##SnpEffVersion="4.1b (build 2015-02-13), by Pablo Cingolani" ##SnpEffCmd="SnpEff -i vcf -o vcf hg19 C:/Users/oigl/workflow_output/2016.06.30_19-53/file.vcf " ##INFO= ##INFO= ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO 22 17071756 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.*11A>G|||||11| 22 17072035 . C T . . ANN=T|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.1406G>A|p.Gly469Glu|1666/2053|1406/1674|469/557|| 22 17072258 . C A . . ANN=A|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.1183G>T|p.Gly395Cys|1443/2053|1183/1674|395/557|| 22 17072674 . G A . . ANN=A|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.767C>T|p.Pro256Leu|1027/2053|767/1674|256/557|| 22 17072747 . T C . . ANN=C|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.694A>G|p.Met232Val|954/2053|694/1674|232/557|| 22 17072781 . C T . . ANN=T|synonymous_variant|LOW|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.660G>A|p.Pro220Pro|920/2053|660/1674|220/557|| 22 17073043 . C T . . ANN=T|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.398G>A|p.Arg133Gln|658/2053|398/1674|133/557|| 22 17073066 . A G . . ANN=G|synonymous_variant|LOW|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.375T>C|p.Ala125Ala|635/2053|375/1674|125/557|| 22 17073119 . C T . . ANN=T|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.322G>A|p.Val108Met|582/2053|322/1674|108/557|| 22 17073131 . C T . . ANN=T|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.310G>A|p.Gly104Ser|570/2053|310/1674|104/557|| 22 17073134 . C A . . ANN=A|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.307G>T|p.Asp103Tyr|567/2053|307/1674|103/557|| 22 17073145 . T G . . ANN=G|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.296A>C|p.Glu99Ala|556/2053|296/1674|99/557|| 22 17073148 . G A . . ANN=A|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.293C>T|p.Ala98Val|553/2053|293/1674|98/557|| 22 17073150 . C T . . ANN=T|synonymous_variant|LOW|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.291G>A|p.Gln97Gln|551/2053|291/1674|97/557|| 22 17073153 . G C . . ANN=C|synonymous_variant|LOW|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.288C>G|p.Thr96Thr|548/2053|288/1674|96/557|| 22 17073178 . C T . . ANN=T|stop_gained|HIGH|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.263G>A|p.Trp88*|523/2053|263/1674|88/557|| 22 17073198 . C T . . ANN=T|synonymous_variant|LOW|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.243G>A|p.Glu81Glu|503/2053|243/1674|81/557|| 22 17073275 . G A . . ANN=A|missense_variant|MODERATE|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.166C>T|p.Arg56Trp|426/2053|166/1674|56/557|| 22 17073466 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.-26G>A|||||26| 22 17073475 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|CCT8L2|CCT8L2|transcript|NM_014406.4|Coding|1/1|c.-35G>A|||||35| 22 17280774 . T C . . ANN=C|missense_variant|MODERATE|XKR3|XKR3|transcript|NM_175878.3|Coding|3/4|c.476A>G|p.Gln159Arg|574/1681|476/1380|159/459|| 22 17280778 . T C . . ANN=C|missense_variant|MODERATE|XKR3|XKR3|transcript|NM_175878.3|Coding|3/4|c.472A>G|p.Met158Val|570/1681|472/1380|158/459|| 22 17280822 . G A . . ANN=A|missense_variant|MODERATE|XKR3|XKR3|transcript|NM_175878.3|Coding|3/4|c.428C>T|p.Thr143Met|526/1681|428/1380|143/459|| 22 17280882 . C A . . ANN=A|missense_variant|MODERATE|XKR3|XKR3|transcript|NM_175878.3|Coding|3/4|c.368G>T|p.Trp123Leu|466/1681|368/1380|123/459|| 22 17280889 . G A . . ANN=A|missense_variant|MODERATE|XKR3|XKR3|transcript|NM_175878.3|Coding|3/4|c.361C>T|p.His121Tyr|459/1681|361/1380|121/459|| 22 17280941 . T C . . ANN=C|intron_variant|MODIFIER|XKR3|XKR3|transcript|NM_175878.3|Coding|2/3|c.336-27A>G|||||| 22 17288581 . C T . . ANN=T|intron_variant|MODIFIER|XKR3|XKR3|transcript|NM_175878.3|Coding|2/3|c.335+48G>A|||||| 22 17288641 . C A . . ANN=A|missense_variant|MODERATE|XKR3|XKR3|transcript|NM_175878.3|Coding|2/4|c.323G>T|p.Gly108Val|421/1681|323/1380|108/459|| 22 17288849 . A G . . ANN=G|missense_variant|MODERATE|XKR3|XKR3|transcript|NM_175878.3|Coding|2/4|c.115T>C|p.Phe39Leu|213/1681|115/1380|39/459|| 22 17288988 . T C . . ANN=C|intron_variant|MODIFIER|XKR3|XKR3|transcript|NM_175878.3|Coding|1/3|c.-10-15A>G|||||| 22 17444582 . G A . . ANN=A|intron_variant|MODIFIER|GAB4|GAB4|transcript|NM_001037814.1|Coding|9/9|c.1581+33C>T|||||| 22 17444640 . G A . . ANN=A|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|9/10|c.1556C>T|p.Ala519Val|1664/2629|1556/1725|519/574|| 22 17444714 . C T . . ANN=T|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|9/10|c.1482G>A|p.Pro494Pro|1590/2629|1482/1725|494/574|| 22 17444748 . A G . . ANN=G|intron_variant|MODIFIER|GAB4|GAB4|transcript|NM_001037814.1|Coding|8/9|c.1477-29T>C|||||| 22 17445640 . AC A . . ANN=A|intron_variant|MODIFIER|GAB4|GAB4|transcript|NM_001037814.1|Coding|8/9|c.1476+15delG|||||| 22 17445710 . C T . . ANN=T|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|8/10|c.1422G>A|p.Thr474Thr|1530/2629|1422/1725|474/574|| 22 17445711 . G A . . ANN=A|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|8/10|c.1421C>T|p.Thr474Met|1529/2629|1421/1725|474/574|| 22 17445734 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|8/10|c.1398C>T|p.Ser466Ser|1506/2629|1398/1725|466/574|| 22 17446153 . G C . . ANN=C|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|7/10|c.1294C>G|p.Pro432Ala|1402/2629|1294/1725|432/574|| 22 17446157 . G T . . ANN=T|splice_region_variant&synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|7/10|c.1290C>A|p.Ala430Ala|1398/2629|1290/1725|430/574|| 22 17446991 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|6/10|c.1287G>A|p.Lys429Lys|1395/2629|1287/1725|429/574|| 22 17446995 . T C . . ANN=C|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|6/10|c.1283A>G|p.Gln428Arg|1391/2629|1283/1725|428/574|| 22 17447036 . C G . . ANN=G|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|6/10|c.1242G>C|p.Glu414Asp|1350/2629|1242/1725|414/574|| 22 17447138 . C G . . ANN=G|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|6/10|c.1140G>C|p.Gln380His|1248/2629|1140/1725|380/574|| 22 17447173 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|6/10|c.1105C>T|p.Leu369Leu|1213/2629|1105/1725|369/574|| 22 17447184 . C G . . ANN=G|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|6/10|c.1094G>C|p.Gly365Ala|1202/2629|1094/1725|365/574|| 22 17447237 . C G . . ANN=G|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|6/10|c.1041G>C|p.Val347Val|1149/2629|1041/1725|347/574|| 22 17447241 . A G . . ANN=G|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|6/10|c.1037T>C|p.Leu346Pro|1145/2629|1037/1725|346/574|| 22 17449238 . T C . . ANN=C|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|5/10|c.973A>G|p.Asn325Asp|1081/2629|973/1725|325/574|| 22 17449263 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|5/10|c.948C>T|p.Gly316Gly|1056/2629|948/1725|316/574|| 22 17450920 . T C . . ANN=C|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|4/10|c.850A>G|p.Arg284Gly|958/2629|850/1725|284/574|| 22 17450929 . C T . . ANN=T|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|4/10|c.841G>A|p.Ala281Thr|949/2629|841/1725|281/574|| 22 17450952 . A G . . ANN=G|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|4/10|c.818T>C|p.Leu273Pro|926/2629|818/1725|273/574|| 22 17450969 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|4/10|c.801C>T|p.Ile267Ile|909/2629|801/1725|267/574|| 22 17450978 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|4/10|c.792C>T|p.Ser264Ser|900/2629|792/1725|264/574|| 22 17451081 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|4/10|c.689G>A|p.Ser230Asn|797/2629|689/1725|230/574|| 22 17451120 . A T . . ANN=T|intron_variant|MODIFIER|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/9|c.687-37T>A|||||| 22 17451123 . A T . . ANN=T|intron_variant|MODIFIER|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/9|c.687-40T>A|||||| 22 17468815 . G A . . ANN=A|intron_variant|MODIFIER|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/9|c.686+35C>T|||||| 22 17468873 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.663C>T|p.Ala221Ala|771/2629|663/1725|221/574|| 22 17468875 . C T . . ANN=T|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.661G>A|p.Ala221Thr|769/2629|661/1725|221/574|| 22 17468886 . G A . . ANN=A|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.650C>T|p.Ser217Leu|758/2629|650/1725|217/574|| 22 17468901 . G A . . ANN=A|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.635C>T|p.Pro212Leu|743/2629|635/1725|212/574|| 22 17468918 . C A . . ANN=A|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.618G>T|p.Trp206Cys|726/2629|618/1725|206/574|| 22 17468948 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.588C>T|p.Pro196Pro|696/2629|588/1725|196/574|| 22 17469026 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.510C>T|p.His170His|618/2629|510/1725|170/574|| 22 17469049 . C A . . ANN=A|stop_gained|HIGH|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.487G>T|p.Gly163*|595/2629|487/1725|163/574||;LOF=(GAB4|GAB4|1|1.00);NMD=(GAB4|GAB4|1|1.00) 22 17469056 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|3/10|c.480C>T|p.Gly160Gly|588/2629|480/1725|160/574|| 22 17472785 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|2/10|c.456C>T|p.Gly152Gly|564/2629|456/1725|152/574|| 22 17472860 . C T . . ANN=T|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|2/10|c.381G>A|p.Glu127Glu|489/2629|381/1725|127/574|| 22 17472967 . G T . . ANN=T|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|2/10|c.274C>A|p.Arg92Ser|382/2629|274/1725|92/574|| 22 17472983 . G A . . ANN=A|synonymous_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|2/10|c.258C>T|p.Gly86Gly|366/2629|258/1725|86/574|| 22 17473071 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|1/9|c.175-5C>G|||||| 22 17488793 . C T . . ANN=T|intron_variant|MODIFIER|GAB4|GAB4|transcript|NM_001037814.1|Coding|1/9|c.174+38G>A|||||| 22 17488823 . C CG . . ANN=CG|splice_region_variant&intron_variant|LOW|GAB4|GAB4|transcript|NM_001037814.1|Coding|1/9|c.174+7_174+8insC|||||| 22 17488938 . A G . . ANN=G|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|1/10|c.67T>C|p.Ser23Pro|175/2629|67/1725|23/574|| 22 17488995 . G A . . ANN=A|missense_variant|MODERATE|GAB4|GAB4|transcript|NM_001037814.1|Coding|1/10|c.10C>T|p.Pro4Ser|118/2629|10/1725|4/574|| 22 17489005 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|GAB4|GAB4|transcript|NM_001037814.1|Coding|1/10|c.-1C>T|||||1| 22 17565932 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|1/13|c.-50T>C|||||50|,C|5_prime_UTR_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|1/12|c.-50T>C|||||50| 22 17565974 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|1/13|c.-8G>C|||||8|,C|5_prime_UTR_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|1/12|c.-8G>C|||||8| 22 17577965 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|2/13|c.152C>T|p.Thr51Met|285/8608|152/2601|51/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|2/12|c.152C>T|p.Thr51Met|285/8506|152/2499|51/832|| 22 17577994 . GTTC G . . ANN=G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|2/12|c.163+19_163+21delTTC||||||,G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|2/11|c.163+19_163+21delTTC|||||| 22 17578008 . T C . . ANN=C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|2/12|c.163+32T>C||||||,C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|2/11|c.163+32T>C|||||| 22 17578680 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|2/12|c.164-7C>T||||||,T|splice_region_variant&intron_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|2/11|c.164-7C>T|||||| 22 17578788 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|3/13|c.265G>A|p.Asp89Asn|398/8608|265/2601|89/866||,A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|3/12|c.265G>A|p.Asp89Asn|398/8506|265/2499|89/832|| 22 17578842 . G T . . ANN=T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|3/12|c.310+9G>T||||||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|3/11|c.310+9G>T|||||| 22 17579761 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|4/13|c.407G>A|p.Arg136Lys|540/8608|407/2601|136/866||,A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|4/12|c.407G>A|p.Arg136Lys|540/8506|407/2499|136/832|| 22 17579825 . T C . . ANN=C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|4/12|c.423+48T>C||||||,C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|4/11|c.423+48T>C|||||| 22 17581199 . G C . . ANN=C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|4/12|c.424-46G>C||||||,C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|4/11|c.424-46G>C|||||| 22 17581208 . G A . . ANN=A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|4/12|c.424-37G>A||||||,A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|4/11|c.424-37G>A|||||| 22 17581224 . C T . . ANN=T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|4/12|c.424-21C>T||||||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|4/11|c.424-21C>T|||||| 22 17581248 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|5/13|c.427C>T|p.Arg143Cys|560/8608|427/2601|143/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|5/12|c.427C>T|p.Arg143Cys|560/8506|427/2499|143/832|| 22 17581286 . G C . . ANN=C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|5/13|c.465G>C|p.Gln155His|598/8608|465/2601|155/866||,C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|5/12|c.465G>C|p.Gln155His|598/8506|465/2499|155/832|| 22 17582877 . G T . . ANN=T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|5/12|c.551-9G>T||||||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|5/11|c.551-9G>T|||||| 22 17582958 . T C . . ANN=C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|6/12|c.598+25T>C||||||,C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|6/11|c.598+25T>C|||||| 22 17582971 . ACACATG A . . ANN=A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|6/12|c.598+39_598+44delCACATG||||||,A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|6/11|c.598+39_598+44delCACATG|||||| 22 17582986 . C T . . ANN=T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|6/12|c.599-43C>T||||||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|6/11|c.599-43C>T|||||| 22 17582987 . G A . . ANN=A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|6/12|c.599-42G>A||||||,A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|6/11|c.599-42G>A|||||| 22 17583012 . G A . . ANN=A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|6/12|c.599-17G>A||||||,A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|6/11|c.599-17G>A|||||| 22 17583085 . G T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|7/13|c.655G>T|p.Val219Leu|788/8608|655/2601|219/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|7/12|c.655G>T|p.Val219Leu|788/8506|655/2499|219/832|| 22 17583212 . C T . . ANN=T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|7/12|c.762+20C>T||||||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|7/11|c.762+20C>T|||||| 22 17584369 . C T . . ANN=T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|7/12|c.763-15C>T||||||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|7/11|c.763-15C>T|||||| 22 17584386 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|8/13|c.765C>T|p.Pro255Pro|898/8608|765/2601|255/866||,T|splice_region_variant&synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|8/12|c.765C>T|p.Pro255Pro|898/8506|765/2499|255/832|| 22 17584454 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|8/13|c.833G>A|p.Arg278His|966/8608|833/2601|278/866||,A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|8/12|c.833G>A|p.Arg278His|966/8506|833/2499|278/832|| 22 17585624 . C G . . ANN=G|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|9/13|c.855C>G|p.Pro285Pro|988/8608|855/2601|285/866||,G|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|9/12|c.855C>G|p.Pro285Pro|988/8506|855/2499|285/832|| 22 17585642 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|9/13|c.873C>T|p.Leu291Leu|1006/8608|873/2601|291/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|9/12|c.873C>T|p.Leu291Leu|1006/8506|873/2499|291/832|| 22 17585658 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|9/13|c.889C>T|p.His297Tyr|1022/8608|889/2601|297/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|9/12|c.889C>T|p.His297Tyr|1022/8506|889/2499|297/832|| 22 17585668 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|9/13|c.899C>T|p.Thr300Ile|1032/8608|899/2601|300/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|9/12|c.899C>T|p.Thr300Ile|1032/8506|899/2499|300/832|| 22 17585703 . AG A . . ANN=A|splice_region_variant&intron_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|9/12|c.931+4delG||||||,A|splice_region_variant&intron_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|9/11|c.931+4delG|||||| 22 17585739 . A G . . ANN=G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|9/12|c.931+39A>G||||||,G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|9/11|c.931+39A>G|||||| 22 17586471 . C T . . ANN=T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|9/12|c.932-10C>T||||||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|9/11|c.932-10C>T|||||| 22 17586491 . G A,C,T . . ANN=A|splice_region_variant&synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|10/13|c.942G>A|p.Pro314Pro|1075/8608|942/2601|314/866||,C|splice_region_variant&synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|10/13|c.942G>C|p.Pro314Pro|1075/8608|942/2601|314/866||,T|splice_region_variant&synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|10/13|c.942G>T|p.Pro314Pro|1075/8608|942/2601|314/866||,A|splice_region_variant&synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/12|c.942G>A|p.Pro314Pro|1075/8506|942/2499|314/832||,C|splice_region_variant&synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/12|c.942G>C|p.Pro314Pro|1075/8506|942/2499|314/832||,T|splice_region_variant&synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/12|c.942G>T|p.Pro314Pro|1075/8506|942/2499|314/832|| 22 17586513 . G A . . ANN=A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|10/12|c.943+21G>A||||||,A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.943+21G>A|||||| 22 17586714 . CATCA C . . ANN=C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|10/12|c.944-28_944-25delATCA||||||,C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.943+223_943+226delATCA|||||| 22 17586715 . ATCAC A . . ANN=A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|10/12|c.944-27_944-24delTCAC||||||,A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.943+224_943+227delTCAC|||||| 22 17586720 . TCACG T . . ANN=T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|10/12|c.944-22_944-19delCACG||||||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.943+229_943+232delCACG|||||| 22 17586751 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|11/13|c.952C>T|p.Pro318Ser|1085/8608|952/2601|318/866||,T|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.943+259C>T|||||| 22 17586757 . T C . . ANN=C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|11/13|c.958T>C|p.Trp320Arg|1091/8608|958/2601|320/866||,C|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.943+265T>C|||||| 22 17586777 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|11/13|c.978G>A|p.Thr326Thr|1111/8608|978/2601|326/866||,A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.943+285G>A|||||| 22 17586887 . A G . . ANN=G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|11/12|c.1045+43A>G||||||,G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.943+395A>G|||||| 22 17588578 . C G . . ANN=G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|11/12|c.1046-39C>G||||||,G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.944-39C>G|||||| 22 17588588 . C A . . ANN=A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|11/12|c.1046-29C>A||||||,A|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|10/11|c.944-29C>A|||||| 22 17589152 . T G . . ANN=G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|12/12|c.1088-45T>G||||||,G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|11/11|c.986-45T>G|||||| 22 17589158 . C G . . ANN=G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|12/12|c.1088-39C>G||||||,G|intron_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|11/11|c.986-39C>G|||||| 22 17589209 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1100C>T|p.Ala367Val|1233/8608|1100/2601|367/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.998C>T|p.Ala333Val|1131/8506|998/2499|333/832|| 22 17589225 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1116C>T|p.Pro372Pro|1249/8608|1116/2601|372/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1014C>T|p.Pro338Pro|1147/8506|1014/2499|338/832|| 22 17589231 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1122G>A|p.Pro374Pro|1255/8608|1122/2601|374/866||,A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1020G>A|p.Pro340Pro|1153/8506|1020/2499|340/832|| 22 17589246 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1137G>A|p.Lys379Lys|1270/8608|1137/2601|379/866||,A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1035G>A|p.Lys345Lys|1168/8506|1035/2499|345/832|| 22 17589283 . G T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1174G>T|p.Val392Leu|1307/8608|1174/2601|392/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1072G>T|p.Val358Leu|1205/8506|1072/2499|358/832|| 22 17589297 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1188G>A|p.Leu396Leu|1321/8608|1188/2601|396/866||,A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1086G>A|p.Leu362Leu|1219/8506|1086/2499|362/832|| 22 17589341 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1232C>T|p.Ala411Val|1365/8608|1232/2601|411/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1130C>T|p.Ala377Val|1263/8506|1130/2499|377/832|| 22 17589362 . A C . . ANN=C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1253A>C|p.Gln418Pro|1386/8608|1253/2601|418/866||,C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1151A>C|p.Gln384Pro|1284/8506|1151/2499|384/832|| 22 17589412 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1303G>A|p.Glu435Lys|1436/8608|1303/2601|435/866||,A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1201G>A|p.Glu401Lys|1334/8506|1201/2499|401/832|| 22 17589447 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1338G>A|p.Leu446Leu|1471/8608|1338/2601|446/866||,A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1236G>A|p.Leu412Leu|1369/8506|1236/2499|412/832|| 22 17589490 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1381C>T|p.Arg461Trp|1514/8608|1381/2601|461/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1279C>T|p.Arg427Trp|1412/8506|1279/2499|427/832|| 22 17589516 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1407C>T|p.Cys469Cys|1540/8608|1407/2601|469/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1305C>T|p.Cys435Cys|1438/8506|1305/2499|435/832|| 22 17589521 . A G . . ANN=G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1412A>G|p.His471Arg|1545/8608|1412/2601|471/866||,G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1310A>G|p.His437Arg|1443/8506|1310/2499|437/832|| 22 17589567 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1458C>T|p.Ile486Ile|1591/8608|1458/2601|486/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1356C>T|p.Ile452Ile|1489/8506|1356/2499|452/832|| 22 17589639 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1530C>T|p.Asp510Asp|1663/8608|1530/2601|510/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1428C>T|p.Asp476Asp|1561/8506|1428/2499|476/832|| 22 17589753 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1644C>T|p.His548His|1777/8608|1644/2601|548/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1542C>T|p.His514His|1675/8506|1542/2499|514/832|| 22 17589794 . C A . . ANN=A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1685C>A|p.Pro562Gln|1818/8608|1685/2601|562/866||,A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1583C>A|p.Pro528Gln|1716/8506|1583/2499|528/832|| 22 17589798 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1689C>T|p.Gly563Gly|1822/8608|1689/2601|563/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1587C>T|p.Gly529Gly|1720/8506|1587/2499|529/832|| 22 17589856 . G C . . ANN=C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1747G>C|p.Asp583His|1880/8608|1747/2601|583/866||,C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1645G>C|p.Asp549His|1778/8506|1645/2499|549/832|| 22 17589928 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1819G>A|p.Glu607Lys|1952/8608|1819/2601|607/866||,A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1717G>A|p.Glu573Lys|1850/8506|1717/2499|573/832|| 22 17589948 . G C . . ANN=C|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1839G>C|p.Pro613Pro|1972/8608|1839/2601|613/866||,C|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1737G>C|p.Pro579Pro|1870/8506|1737/2499|579/832|| 22 17590006 . C G . . ANN=G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.1897C>G|p.Leu633Val|2030/8608|1897/2601|633/866||,G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1795C>G|p.Leu599Val|1928/8506|1795/2499|599/832|| 22 17590180 . G A . . ANN=A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2071G>A|p.Ala691Thr|2204/8608|2071/2601|691/866||,A|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.1969G>A|p.Ala657Thr|2102/8506|1969/2499|657/832|| 22 17590261 . T G . . ANN=G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2152T>G|p.Phe718Val|2285/8608|2152/2601|718/866||,G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2050T>G|p.Phe684Val|2183/8506|2050/2499|684/832|| 22 17590269 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2160C>T|p.Pro720Pro|2293/8608|2160/2601|720/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2058C>T|p.Pro686Pro|2191/8506|2058/2499|686/832|| 22 17590313 . C T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2204C>T|p.Ala735Val|2337/8608|2204/2601|735/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2102C>T|p.Ala701Val|2235/8506|2102/2499|701/832|| 22 17590399 . G T . . ANN=T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2290G>T|p.Ala764Ser|2423/8608|2290/2601|764/866||,T|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2188G>T|p.Ala730Ser|2321/8506|2188/2499|730/832|| 22 17590404 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2295G>A|p.Gln765Gln|2428/8608|2295/2601|765/866||,A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2193G>A|p.Gln731Gln|2326/8506|2193/2499|731/832|| 22 17590439 . A G . . ANN=G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2330A>G|p.Asp777Gly|2463/8608|2330/2601|777/866||,G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2228A>G|p.Asp743Gly|2361/8506|2228/2499|743/832|| 22 17590490 . A C . . ANN=C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2381A>C|p.Gln794Pro|2514/8608|2381/2601|794/866||,C|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2279A>C|p.Gln760Pro|2412/8506|2279/2499|760/832|| 22 17590498 . A G . . ANN=G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2389A>G|p.Ile797Val|2522/8608|2389/2601|797/866||,G|missense_variant|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2287A>G|p.Ile763Val|2420/8506|2287/2499|763/832|| 22 17590515 . G A . . ANN=A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2406G>A|p.Pro802Pro|2539/8608|2406/2601|802/866||,A|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2304G>A|p.Pro768Pro|2437/8506|2304/2499|768/832|| 22 17590541 . TGGAGGAAGA T . . ANN=|inframe_deletion|MODERATE|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2446_2454delGAAGAGGAG|p.Glu816_Glu818del|2579/8608|2446/2601|816/866||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2344_2352delGAAGAGGAG|p.Glu782_Glu784del|2477/8506|2344/2499|782/832||INFO_REALIGN_3_PRIME 22 17590599 . C T . . ANN=T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.2490C>T|p.Pro830Pro|2623/8608|2490/2601|830/866||,T|synonymous_variant|LOW|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.2388C>T|p.Pro796Pro|2521/8506|2388/2499|796/832|| 22 17590744 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_014339.6|Coding|13/13|c.*34T>C|||||34|,C|3_prime_UTR_variant|MODIFIER|IL17RA|IL17RA|transcript|NM_001289905.1|Coding|12/12|c.*34T>C|||||34| 22 17600282 . C T . . ANN=T|stop_retained_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1736G>A|p.Ter579Ter|1932/5025|1736/1737|579/578||,T|stop_retained_variant|LOW|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.671G>A|p.Ter224Ter|868/3961|671/672|224/223|| 22 17600293 . G A . . ANN=A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1725C>T|p.Ala575Ala|1921/5025|1725/1737|575/578||,A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.660C>T|p.Ala220Ala|857/3961|660/672|220/223|| 22 17600313 . C T . . ANN=T|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1705G>A|p.Val569Ile|1901/5025|1705/1737|569/578||,T|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.640G>A|p.Val214Ile|837/3961|640/672|214/223|| 22 17600393 . G A . . ANN=A|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1625C>T|p.Pro542Leu|1821/5025|1625/1737|542/578||,A|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.560C>T|p.Pro187Leu|757/3961|560/672|187/223|| 22 17600448 . G A . . ANN=A|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1570C>T|p.Arg524Trp|1766/5025|1570/1737|524/578||,A|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.505C>T|p.Arg169Trp|702/3961|505/672|169/223|| 22 17600497 . G A . . ANN=A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1521C>T|p.Leu507Leu|1717/5025|1521/1737|507/578||,A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.456C>T|p.Leu152Leu|653/3961|456/672|152/223|| 22 17600672 . G A . . ANN=A|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1346C>T|p.Ala449Val|1542/5025|1346/1737|449/578||,A|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.281C>T|p.Ala94Val|478/3961|281/672|94/223|| 22 17600689 . G A . . ANN=A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1329C>T|p.Leu443Leu|1525/5025|1329/1737|443/578||,A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.264C>T|p.Leu88Leu|461/3961|264/672|88/223|| 22 17600857 . G A . . ANN=A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1161C>T|p.Pro387Pro|1357/5025|1161/1737|387/578||,A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.96C>T|p.Pro32Pro|293/3961|96/672|32/223|| 22 17600890 . G A . . ANN=A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1128C>T|p.Pro376Pro|1324/5025|1128/1737|376/578||,A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.63C>T|p.Pro21Pro|260/3961|63/672|21/223|| 22 17600895 . C T . . ANN=T|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1123G>A|p.Ala375Thr|1319/5025|1123/1737|375/578||,T|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.58G>A|p.Ala20Thr|255/3961|58/672|20/223|| 22 17600977 . G A . . ANN=A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.1041C>T|p.Phe347Phe|1237/5025|1041/1737|347/578||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.-25C>T||||||,A|5_prime_UTR_variant|MODIFIER|CECR6|CECR6|transcript|NM_001163079.1|Coding|2/2|c.-25C>T|||||25| 22 17601199 . G A . . ANN=A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.819C>T|p.Pro273Pro|1015/5025|819/1737|273/578||,A|intron_variant|MODIFIER|CECR6|CECR6|transcript|NM_001163079.1|Coding|1/1|c.-81-166C>T|||||| 22 17601271 . G A . . ANN=A|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.747C>T|p.Ser249Ser|943/5025|747/1737|249/578||,A|intron_variant|MODIFIER|CECR6|CECR6|transcript|NM_001163079.1|Coding|1/1|c.-81-238C>T|||||| 22 17601299 . CCCA C . . ANN=C|disruptive_inframe_deletion|MODERATE|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.716_718delTGG|p.Val239del|914/5025|716/1737|239/578||,C|intron_variant|MODIFIER|CECR6|CECR6|transcript|NM_001163079.1|Coding|1/1|c.-81-269_-81-267delTGG|||||| 22 17601438 . G T . . ANN=T|missense_variant|MODERATE|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.580C>A|p.Pro194Thr|776/5025|580/1737|194/578||,T|intron_variant|MODIFIER|CECR6|CECR6|transcript|NM_001163079.1|Coding|1/1|c.-81-405C>A|||||| 22 17601466 . T C . . ANN=C|synonymous_variant|LOW|CECR6|CECR6|transcript|NM_031890.3|Coding|1/1|c.552A>G|p.Arg184Arg|748/5025|552/1737|184/578||,C|intron_variant|MODIFIER|CECR6|CECR6|transcript|NM_001163079.1|Coding|1/1|c.-81-433A>G|||||| 22 17618882 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|8/8|c.*29G>A|||||29|,T|3_prime_UTR_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|8/8|c.*29G>A|||||29| 22 17618937 . G A . . ANN=A|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|8/8|c.1246C>T|p.Arg416Cys|1274/1801|1246/1272|416/423||,A|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_017829.5|Coding|8/8|c.1156C>T|p.Arg386Cys|1199/1726|1156/1182|386/393|| 22 17619076 . C G . . ANN=G|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|8/8|c.1107G>C|p.Arg369Ser|1135/1801|1107/1272|369/423||,G|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_017829.5|Coding|8/8|c.1017G>C|p.Arg339Ser|1060/1726|1017/1182|339/393|| 22 17619130 . T C . . ANN=C|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_033070.2|Coding|8/8|c.1053A>G|p.Ser351Ser|1081/1801|1053/1272|351/423||,C|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_017829.5|Coding|8/8|c.963A>G|p.Ser321Ser|1006/1726|963/1182|321/393|| 22 17619281 . G A . . ANN=A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|7/7|c.936-34C>T||||||,A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|7/7|c.846-34C>T|||||| 22 17619282 . G A . . ANN=A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|7/7|c.936-35C>T||||||,A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|7/7|c.846-35C>T|||||| 22 17619292 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|7/7|c.936-45G>A||||||,T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|7/7|c.846-45G>A|||||| 22 17619393 . A G . . ANN=G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|7/7|c.935+47T>C||||||,G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|7/7|c.845+47T>C|||||| 22 17619407 . T C . . ANN=C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|7/7|c.935+33A>G||||||,C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|7/7|c.845+33A>G|||||| 22 17619428 . A G . . ANN=G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|7/7|c.935+12T>C||||||,G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|7/7|c.845+12T>C|||||| 22 17619661 . T G . . ANN=G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|6/7|c.747-33A>C||||||,G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|6/7|c.657-33A>C|||||| 22 17622001 . C T . . ANN=T|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|6/8|c.694G>A|p.Val232Ile|722/1801|694/1272|232/423||,T|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_017829.5|Coding|6/8|c.604G>A|p.Val202Ile|647/1726|604/1182|202/393|| 22 17622065 . A G . . ANN=G|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_033070.2|Coding|6/8|c.630T>C|p.Asp210Asp|658/1801|630/1272|210/423||,G|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_017829.5|Coding|6/8|c.540T>C|p.Asp180Asp|583/1726|540/1182|180/393|| 22 17622089 . C A . . ANN=A|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|6/8|c.606G>T|p.Glu202Asp|634/1801|606/1272|202/423||,A|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_017829.5|Coding|6/8|c.516G>T|p.Glu172Asp|559/1726|516/1182|172/393|| 22 17622140 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|5/7|c.572-17G>A||||||,T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|5/7|c.482-17G>A|||||| 22 17622171 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|5/7|c.572-48G>A||||||,T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|5/7|c.482-48G>A|||||| 22 17623945 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|5/7|c.571+43G>A||||||,T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|5/7|c.481+43G>A|||||| 22 17624013 . C T . . ANN=T|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_033070.2|Coding|5/8|c.546G>A|p.Pro182Pro|574/1801|546/1272|182/423||,T|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_017829.5|Coding|5/8|c.456G>A|p.Pro152Pro|499/1726|456/1182|152/393|| 22 17624041 . A G . . ANN=G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|4/7|c.538-20T>C||||||,G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|4/7|c.448-20T>C|||||| 22 17624063 . T G . . ANN=G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|4/7|c.538-42A>C||||||,G|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|4/7|c.448-42A>C|||||| 22 17625915 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|4/8|c.536C>T|p.Thr179Met|564/1801|536/1272|179/423||,A|missense_variant&splice_region_variant|MODERATE|CECR5|CECR5|transcript|NM_017829.5|Coding|4/8|c.446C>T|p.Thr149Met|489/1726|446/1182|149/393|| 22 17625970 . G A . . ANN=A|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|4/8|c.481C>T|p.Arg161Trp|509/1801|481/1272|161/423||,A|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_017829.5|Coding|4/8|c.391C>T|p.Arg131Trp|434/1726|391/1182|131/393|| 22 17629300 . C A . . ANN=A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|3/7|c.443+38G>T||||||,A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|3/7|c.353+38G>T|||||| 22 17629319 . G A . . ANN=A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|3/7|c.443+19C>T||||||,A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|3/7|c.353+19C>T|||||| 22 17629357 . C G . . ANN=G|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|3/8|c.424G>C|p.Val142Leu|452/1801|424/1272|142/423||,G|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_017829.5|Coding|3/8|c.334G>C|p.Val112Leu|377/1726|334/1182|112/393|| 22 17629383 . C T . . ANN=T|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|3/8|c.398G>A|p.Arg133Gln|426/1801|398/1272|133/423||,T|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_017829.5|Coding|3/8|c.308G>A|p.Arg103Gln|351/1726|308/1182|103/393|| 22 17630389 . G C . . ANN=C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|2/7|c.330+43C>G||||||,C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|2/7|c.240+43C>G|||||| 22 17630393 . C T . . ANN=T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|2/7|c.330+39G>A||||||,T|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|2/7|c.240+39G>A|||||| 22 17630401 . T C . . ANN=C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|2/7|c.330+31A>G||||||,C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|2/7|c.240+31A>G|||||| 22 17630486 . C A . . ANN=A|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_033070.2|Coding|2/8|c.276G>T|p.Gly92Gly|304/1801|276/1272|92/423||,A|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_017829.5|Coding|2/8|c.186G>T|p.Gly62Gly|229/1726|186/1182|62/393|| 22 17630540 . C T . . ANN=T|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_033070.2|Coding|2/8|c.222G>A|p.Leu74Leu|250/1801|222/1272|74/423||,T|synonymous_variant|LOW|CECR5|CECR5|transcript|NM_017829.5|Coding|2/8|c.132G>A|p.Leu44Leu|175/1726|132/1182|44/393|| 22 17630647 . G A . . ANN=A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|1/7|c.127-12C>T||||||,A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|1/7|c.37-12C>T|||||| 22 17630667 . T C . . ANN=C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_033070.2|Coding|1/7|c.127-32A>G||||||,C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|1/7|c.37-32A>G|||||| 22 17640045 . G A . . ANN=A|missense_variant|MODERATE|CECR5|CECR5|transcript|NM_033070.2|Coding|1/8|c.97C>T|p.Arg33Cys|125/1801|97/1272|33/423||,A|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|1/7|c.36+6054C>T|||||| 22 17640189 . G C . . ANN=C|intron_variant|MODIFIER|CECR5|CECR5|transcript|NM_017829.5|Coding|1/7|c.36+5910C>G|||||| 22 17646132 . C A . . ANN=A|start_lost|HIGH|CECR5|CECR5|transcript|NM_017829.5|Coding|1/8|c.3G>T|p.Met1?|46/1726|3/1182|1/393||,A|intron_variant|MODIFIER|CECR5-AS1|CECR5-AS1|transcript|NR_024483.1|Noncoding|1/1|n.450-27C>A||||||,A|intron_variant|MODIFIER|CECR5-AS1|CECR5-AS1|transcript|NR_024482.1|Noncoding|1/1|n.164-27C>A||||||;LOF=(CECR5|CECR5|2|0.50) 22 17662444 . C G . . ANN=G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|10/10|c.1465G>C|p.Glu489Gln|1741/4505|1465/1536|489/511||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_177405.2|Coding|7/7|c.742G>C|p.Glu248Gln|947/3711|742/813|248/270||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|10/10|c.1465G>C|p.Glu489Gln|1708/4472|1465/1536|489/511||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|10/10|c.1339G>C|p.Glu447Gln|1616/4380|1339/1410|447/469||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|9/9|c.1105G>C|p.Glu369Gln|1373/4137|1105/1176|369/391||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|10/10|c.1339G>C|p.Glu447Gln|1514/4278|1339/1410|447/469|| 22 17662679 . C T . . ANN=T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|9/9|c.1442+31G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|6/6|c.719+31G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|9/9|c.1442+31G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|9/9|c.1316+31G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|8/8|c.1082+31G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|9/9|c.1316+31G>A|||||| 22 17662699 . A G . . ANN=G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|9/9|c.1442+11T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|6/6|c.719+11T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|9/9|c.1442+11T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|9/9|c.1316+11T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|8/8|c.1082+11T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|9/9|c.1316+11T>C|||||| 22 17662767 . A G . . ANN=G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|9/10|c.1385T>C|p.Ile462Thr|1661/4505|1385/1536|462/511||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_177405.2|Coding|6/7|c.662T>C|p.Ile221Thr|867/3711|662/813|221/270||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|9/10|c.1385T>C|p.Ile462Thr|1628/4472|1385/1536|462/511||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|9/10|c.1259T>C|p.Ile420Thr|1536/4380|1259/1410|420/469||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|8/9|c.1025T>C|p.Ile342Thr|1293/4137|1025/1176|342/391||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|9/10|c.1259T>C|p.Ile420Thr|1434/4278|1259/1410|420/469|| 22 17662793 . A G . . ANN=G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|9/10|c.1359T>C|p.Tyr453Tyr|1635/4505|1359/1536|453/511||,G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_177405.2|Coding|6/7|c.636T>C|p.Tyr212Tyr|841/3711|636/813|212/270||,G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|9/10|c.1359T>C|p.Tyr453Tyr|1602/4472|1359/1536|453/511||,G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|9/10|c.1233T>C|p.Tyr411Tyr|1510/4380|1233/1410|411/469||,G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|8/9|c.999T>C|p.Tyr333Tyr|1267/4137|999/1176|333/391||,G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|9/10|c.1233T>C|p.Tyr411Tyr|1408/4278|1233/1410|411/469|| 22 17662917 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|8/9|c.1240-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_177405.2|Coding|5/6|c.517-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|8/9|c.1240-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|8/9|c.1114-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|7/8|c.880-5C>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|8/9|c.1114-5C>G|||||| 22 17663445 . T C . . ANN=C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|8/9|c.1239+49A>G||||||,C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|5/6|c.516+49A>G||||||,C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|8/9|c.1239+49A>G||||||,C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|8/9|c.1113+49A>G||||||,C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|7/8|c.879+49A>G||||||,C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|8/9|c.1113+49A>G|||||| 22 17663666 . ATGGTCTTCCATGGGGGATGGATGGGTC A . . ANN=A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/9|c.1082-42_1082-16delGACCCATCCATCCCCCATGGAAGACCA||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|4/6|c.359-42_359-16delGACCCATCCATCCCCCATGGAAGACCA||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/9|c.1082-42_1082-16delGACCCATCCATCCCCCATGGAAGACCA||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/9|c.956-42_956-16delGACCCATCCATCCCCCATGGAAGACCA||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/8|c.722-42_722-16delGACCCATCCATCCCCCATGGAAGACCA||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/9|c.956-42_956-16delGACCCATCCATCCCCCATGGAAGACCA|||||| 22 17669199 . G A . . ANN=A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/9|c.1081+30C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|4/6|c.358+30C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/9|c.1081+30C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/9|c.955+30C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/8|c.721+30C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/9|c.955+30C>T|||||| 22 17669211 . C T . . ANN=T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/9|c.1081+18G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|4/6|c.358+18G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/9|c.1081+18G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/9|c.955+18G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/8|c.721+18G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/9|c.955+18G>A|||||| 22 17669238 . C T . . ANN=T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/10|c.1072G>A|p.Gly358Arg|1348/4505|1072/1536|358/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_177405.2|Coding|4/7|c.349G>A|p.Gly117Arg|554/3711|349/813|117/270||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/10|c.1072G>A|p.Gly358Arg|1315/4472|1072/1536|358/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/10|c.946G>A|p.Gly316Arg|1223/4380|946/1410|316/469||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/9|c.712G>A|p.Gly238Arg|980/4137|712/1176|238/391||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/10|c.946G>A|p.Gly316Arg|1121/4278|946/1410|316/469|| 22 17669242 . G A . . ANN=A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/10|c.1068C>T|p.His356His|1344/4505|1068/1536|356/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_177405.2|Coding|4/7|c.345C>T|p.His115His|550/3711|345/813|115/270||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/10|c.1068C>T|p.His356His|1311/4472|1068/1536|356/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/10|c.942C>T|p.His314His|1219/4380|942/1410|314/469||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/9|c.708C>T|p.His236His|976/4137|708/1176|236/391||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/10|c.942C>T|p.His314His|1117/4278|942/1410|314/469|| 22 17669245 . G T . . ANN=T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/10|c.1065C>A|p.Phe355Leu|1341/4505|1065/1536|355/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_177405.2|Coding|4/7|c.342C>A|p.Phe114Leu|547/3711|342/813|114/270||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/10|c.1065C>A|p.Phe355Leu|1308/4472|1065/1536|355/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/10|c.939C>A|p.Phe313Leu|1216/4380|939/1410|313/469||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/9|c.705C>A|p.Phe235Leu|973/4137|705/1176|235/391||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/10|c.939C>A|p.Phe313Leu|1114/4278|939/1410|313/469|| 22 17669265 . C T . . ANN=T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/10|c.1045G>A|p.Val349Ile|1321/4505|1045/1536|349/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_177405.2|Coding|4/7|c.322G>A|p.Val108Ile|527/3711|322/813|108/270||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/10|c.1045G>A|p.Val349Ile|1288/4472|1045/1536|349/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/10|c.919G>A|p.Val307Ile|1196/4380|919/1410|307/469||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/9|c.685G>A|p.Val229Ile|953/4137|685/1176|229/391||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/10|c.919G>A|p.Val307Ile|1094/4278|919/1410|307/469|| 22 17669306 . T C . . ANN=C|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/10|c.1004A>G|p.His335Arg|1280/4505|1004/1536|335/511||,C|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_177405.2|Coding|4/7|c.281A>G|p.His94Arg|486/3711|281/813|94/270||,C|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/10|c.1004A>G|p.His335Arg|1247/4472|1004/1536|335/511||,C|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/10|c.878A>G|p.His293Arg|1155/4380|878/1410|293/469||,C|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/9|c.644A>G|p.His215Arg|912/4137|644/1176|215/391||,C|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/10|c.878A>G|p.His293Arg|1053/4278|878/1410|293/469|| 22 17669335 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|7/10|c.975G>A|p.Val325Val|1251/4505|975/1536|325/511||,T|splice_region_variant&synonymous_variant|LOW|CECR1|CECR1|transcript|NM_177405.2|Coding|4/7|c.252G>A|p.Val84Val|457/3711|252/813|84/270||,T|splice_region_variant&synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|7/10|c.975G>A|p.Val325Val|1218/4472|975/1536|325/511||,T|splice_region_variant&synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|7/10|c.849G>A|p.Val283Val|1126/4380|849/1410|283/469||,T|splice_region_variant&synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|6/9|c.615G>A|p.Val205Val|883/4137|615/1176|205/391||,T|splice_region_variant&synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|7/10|c.849G>A|p.Val283Val|1024/4278|849/1410|283/469|| 22 17669375 . C T . . ANN=T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|6/9|c.973-38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|3/6|c.250-38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|6/9|c.973-38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|6/9|c.847-38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|5/8|c.613-38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|6/9|c.847-38G>A|||||| 22 17670786 . G A . . ANN=A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|6/9|c.972+46C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|3/6|c.249+46C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|6/9|c.972+46C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|6/9|c.846+46C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|5/8|c.612+46C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|6/9|c.846+46C>T|||||| 22 17670794 . C T . . ANN=T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|6/9|c.972+38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|3/6|c.249+38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|6/9|c.972+38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|6/9|c.846+38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|5/8|c.612+38G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|6/9|c.846+38G>A|||||| 22 17670807 . C T . . ANN=T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|6/9|c.972+25G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|3/6|c.249+25G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|6/9|c.972+25G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|6/9|c.846+25G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|5/8|c.612+25G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|6/9|c.846+25G>A|||||| 22 17670854 . G A . . ANN=A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|6/10|c.950C>T|p.Thr317Met|1226/4505|950/1536|317/511||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_177405.2|Coding|3/7|c.227C>T|p.Thr76Met|432/3711|227/813|76/270||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|6/10|c.950C>T|p.Thr317Met|1193/4472|950/1536|317/511||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|6/10|c.824C>T|p.Thr275Met|1101/4380|824/1410|275/469||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|5/9|c.590C>T|p.Thr197Met|858/4137|590/1176|197/391||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|6/10|c.824C>T|p.Thr275Met|999/4278|824/1410|275/469|| 22 17670877 . C T . . ANN=T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|6/10|c.927G>A|p.Met309Ile|1203/4505|927/1536|309/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_177405.2|Coding|3/7|c.204G>A|p.Met68Ile|409/3711|204/813|68/270||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|6/10|c.927G>A|p.Met309Ile|1170/4472|927/1536|309/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|6/10|c.801G>A|p.Met267Ile|1078/4380|801/1410|267/469||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|5/9|c.567G>A|p.Met189Ile|835/4137|567/1176|189/391||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|6/10|c.801G>A|p.Met267Ile|976/4278|801/1410|267/469|| 22 17670945 . A G . . ANN=G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|5/9|c.882-23T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|2/6|c.159-23T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|5/9|c.882-23T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|5/9|c.756-23T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|4/8|c.522-23T>C||||||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|5/9|c.756-23T>C|||||| 22 17672671 . G A . . ANN=A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|5/10|c.783C>T|p.Asp261Asp|1059/4505|783/1536|261/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_177405.2|Coding|2/7|c.60C>T|p.Asp20Asp|265/3711|60/813|20/270||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|5/10|c.783C>T|p.Asp261Asp|1026/4472|783/1536|261/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|5/10|c.657C>T|p.Asp219Asp|934/4380|657/1410|219/469||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|4/9|c.423C>T|p.Asp141Asp|691/4137|423/1176|141/391||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|5/10|c.657C>T|p.Asp219Asp|832/4278|657/1410|219/469|| 22 17680392 . C T . . ANN=T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|4/9|c.753+4061G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_177405.2|Coding|1/6|c.30+47G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|4/9|c.753+4061G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|4/9|c.627+4061G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|3/8|c.393+4061G>A||||||,T|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|4/9|c.627+4061G>A|||||| 22 17684498 . G A . . ANN=A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|4/10|c.708C>T|p.Tyr236Tyr|984/4505|708/1536|236/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|4/10|c.708C>T|p.Tyr236Tyr|951/4472|708/1536|236/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|4/10|c.582C>T|p.Tyr194Tyr|859/4380|582/1410|194/469||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|3/9|c.348C>T|p.Tyr116Tyr|616/4137|348/1176|116/391||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|4/10|c.582C>T|p.Tyr194Tyr|757/4278|582/1410|194/469|| 22 17684517 . C T . . ANN=T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|4/10|c.689G>A|p.Arg230Gln|965/4505|689/1536|230/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|4/10|c.689G>A|p.Arg230Gln|932/4472|689/1536|230/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|4/10|c.563G>A|p.Arg188Gln|840/4380|563/1410|188/469||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|3/9|c.329G>A|p.Arg110Gln|597/4137|329/1176|110/391||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|4/10|c.563G>A|p.Arg188Gln|738/4278|563/1410|188/469|| 22 17684546 . G A . . ANN=A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|4/10|c.660C>T|p.Tyr220Tyr|936/4505|660/1536|220/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|4/10|c.660C>T|p.Tyr220Tyr|903/4472|660/1536|220/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|4/10|c.534C>T|p.Tyr178Tyr|811/4380|534/1410|178/469||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|3/9|c.300C>T|p.Tyr100Tyr|568/4137|300/1176|100/391||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|4/10|c.534C>T|p.Tyr178Tyr|709/4278|534/1410|178/469|| 22 17684619 . A G . . ANN=G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|4/10|c.587T>C|p.Ile196Thr|863/4505|587/1536|196/511||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|4/10|c.587T>C|p.Ile196Thr|830/4472|587/1536|196/511||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|4/10|c.461T>C|p.Ile154Thr|738/4380|461/1410|154/469||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|3/9|c.227T>C|p.Ile76Thr|495/4137|227/1176|76/391||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|4/10|c.461T>C|p.Ile154Thr|636/4278|461/1410|154/469|| 22 17684628 . G T . . ANN=T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|4/10|c.578C>A|p.Pro193Gln|854/4505|578/1536|193/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|4/10|c.578C>A|p.Pro193Gln|821/4472|578/1536|193/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|4/10|c.452C>A|p.Pro151Gln|729/4380|452/1410|151/469||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|3/9|c.218C>A|p.Pro73Gln|486/4137|218/1176|73/391||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|4/10|c.452C>A|p.Pro151Gln|627/4278|452/1410|151/469|| 22 17687954 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|3/9|c.542+7A>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|3/9|c.542+7A>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|3/9|c.416+7A>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|2/8|c.182+7A>G||||||,C|splice_region_variant&intron_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|3/9|c.416+7A>G|||||| 22 17687992 . G A . . ANN=A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|3/10|c.511C>T|p.Arg171Trp|787/4505|511/1536|171/511||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|3/10|c.511C>T|p.Arg171Trp|754/4472|511/1536|171/511||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|3/10|c.385C>T|p.Arg129Trp|662/4380|385/1410|129/469||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|2/9|c.151C>T|p.Arg51Trp|419/4137|151/1176|51/391||,A|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|3/10|c.385C>T|p.Arg129Trp|560/4278|385/1410|129/469|| 22 17687997 . C T . . ANN=T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|3/10|c.506G>A|p.Arg169Gln|782/4505|506/1536|169/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|3/10|c.506G>A|p.Arg169Gln|749/4472|506/1536|169/511||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|3/10|c.380G>A|p.Arg127Gln|657/4380|380/1410|127/469||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282229.1|Coding|2/9|c.146G>A|p.Arg49Gln|414/4137|146/1176|49/391||,T|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|3/10|c.380G>A|p.Arg127Gln|555/4278|380/1410|127/469|| 22 17688077 . C A . . ANN=A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|3/10|c.426G>T|p.Gly142Gly|702/4505|426/1536|142/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|3/10|c.426G>T|p.Gly142Gly|669/4472|426/1536|142/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|3/10|c.300G>T|p.Gly100Gly|577/4380|300/1410|100/469||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282229.1|Coding|2/9|c.66G>T|p.Gly22Gly|334/4137|66/1176|22/391||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|3/10|c.300G>T|p.Gly100Gly|475/4278|300/1410|100/469|| 22 17688141 . A G . . ANN=G|start_lost|HIGH|CECR1|CECR1|transcript|NM_001282229.1|Coding|2/9|c.2T>C|p.Met1?|270/4137|2/1176|1/391||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282225.1|Coding|3/10|c.362T>C|p.Met121Thr|638/4505|362/1536|121/511||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282226.1|Coding|3/10|c.362T>C|p.Met121Thr|605/4472|362/1536|121/511||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282228.1|Coding|3/10|c.236T>C|p.Met79Thr|513/4380|236/1410|79/469||,G|missense_variant|MODERATE|CECR1|CECR1|transcript|NM_001282227.1|Coding|3/10|c.236T>C|p.Met79Thr|411/4278|236/1410|79/469||;LOF=(CECR1|CECR1|6|0.17) 22 17688213 . G A . . ANN=A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/9|c.323-33C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|2/9|c.323-33C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|2/9|c.197-33C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|1/8|c.-38-33C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|2/9|c.197-33C>T|||||| 22 17688215 . G A . . ANN=A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/9|c.323-35C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|2/9|c.323-35C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|2/9|c.197-35C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|1/8|c.-38-35C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|2/9|c.197-35C>T|||||| 22 17690409 . G A . . ANN=A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/10|c.159C>T|p.Asn53Asn|435/4505|159/1536|53/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|2/10|c.159C>T|p.Asn53Asn|402/4472|159/1536|53/511||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|2/10|c.33C>T|p.Asn11Asn|310/4380|33/1410|11/469||,A|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|2/10|c.33C>T|p.Asn11Asn|208/4278|33/1410|11/469||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|1/8|c.-38-2229C>T|||||| 22 17690430 . C G . . ANN=G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/10|c.138G>C|p.Leu46Leu|414/4505|138/1536|46/511||,G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282226.1|Coding|2/10|c.138G>C|p.Leu46Leu|381/4472|138/1536|46/511||,G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282228.1|Coding|2/10|c.12G>C|p.Leu4Leu|289/4380|12/1410|4/469||,G|synonymous_variant|LOW|CECR1|CECR1|transcript|NM_001282227.1|Coding|2/10|c.12G>C|p.Leu4Leu|187/4278|12/1410|4/469||,G|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|1/8|c.-38-2250G>C|||||| 22 17690574 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/10|c.-7C>G|||||7|,C|5_prime_UTR_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|2/10|c.-7C>G|||||7|,C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|1/9|c.-47-86C>G||||||,C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|1/8|c.-38-2394C>G||||||,C|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|1/9|c.-47-86C>G|||||| 22 17690609 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/10|c.-42G>T||||||,A|5_prime_UTR_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/10|c.-42G>T|||||42|,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|1/9|c.-13-29G>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|1/9|c.-47-121G>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|1/8|c.-38-2429G>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|1/9|c.-47-121G>T|||||| 22 17690610 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/10|c.-43C>T||||||,A|5_prime_UTR_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282225.1|Coding|2/10|c.-43C>T|||||43|,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282226.1|Coding|1/9|c.-13-30C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282228.1|Coding|1/9|c.-47-122C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282229.1|Coding|1/8|c.-38-2430C>T||||||,A|intron_variant|MODIFIER|CECR1|CECR1|transcript|NM_001282227.1|Coding|1/9|c.-47-122C>T|||||| 22 18062738 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|3/10|c.20+8C>G|||||| 22 18062777 . G A . . ANN=A|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|3/10|c.20+47G>A|||||| 22 18063849 . G A . . ANN=A|missense_variant|MODERATE|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|4/11|c.67G>A|p.Val23Met|561/2087|67/948|23/315||,A|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|3/3|c.489+251C>T|||||| 22 18064097 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|3/3|c.489+3A>G||||||,C|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|4/10|c.144-27T>C|||||| 22 18065279 . C G . . ANN=G|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|5/10|c.200-50C>G||||||,G|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.275-965G>C|||||| 22 18065309 . A G . . ANN=G|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|5/10|c.200-20A>G||||||,G|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.275-995T>C|||||| 22 18065342 . C T . . ANN=T|synonymous_variant|LOW|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|6/11|c.213C>T|p.Asn71Asn|707/2087|213/948|71/315||,T|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.275-1028G>A|||||| 22 18065345 . C A . . ANN=A|synonymous_variant|LOW|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|6/11|c.216C>A|p.Leu72Leu|710/2087|216/948|72/315||,A|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.275-1031G>T|||||| 22 18065385 . A C . . ANN=C|missense_variant|MODERATE|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|6/11|c.256A>C|p.Asn86His|750/2087|256/948|86/315||,C|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.275-1071T>G|||||| 22 18065388 . G A . . ANN=A|missense_variant|MODERATE|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|6/11|c.259G>A|p.Asp87Asn|753/2087|259/948|87/315||,A|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.275-1074C>T|||||| 22 18066150 . C A . . ANN=A|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|6/10|c.291-32C>A||||||,A|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.275-1836G>T|||||| 22 18066269 . C T . . ANN=T|synonymous_variant|LOW|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|7/11|c.378C>T|p.Leu126Leu|872/2087|378/948|126/315||,T|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.274+1762G>A|||||| 22 18066342 . G C . . ANN=C|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|7/10|c.409+42G>C||||||,C|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|2/3|c.274+1689C>G|||||| 22 18069895 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|7/10|c.410-7C>T||||||,T|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/3|c.152+738G>A|||||| 22 18069904 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|8/11|c.412G>A|p.Val138Ile|906/2087|412/948|138/315||,A|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/3|c.152+729C>T|||||| 22 18070015 . C T . . ANN=T|missense_variant|MODERATE|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|8/11|c.523C>T|p.Arg175Cys|1017/2087|523/948|175/315||,T|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/3|c.152+618G>A|||||| 22 18070022 . A G . . ANN=G|missense_variant|MODERATE|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|8/11|c.530A>G|p.Gln177Arg|1024/2087|530/948|177/315||,G|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/3|c.152+611T>C|||||| 22 18070103 . C T . . ANN=T|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|8/10|c.575+36C>T||||||,T|intron_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/3|c.152+530G>A|||||| 22 18070743 . C T . . ANN=T|synonymous_variant|LOW|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|9/11|c.628C>T|p.Leu210Leu|1122/2087|628/948|210/315||,T|synonymous_variant|LOW|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/4|c.42G>A|p.Gln14Gln|1216/1838|42/507|14/168|| 22 18070748 . G A . . ANN=A|missense_variant|MODERATE|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/4|c.37C>T|p.Pro13Ser|1211/1838|37/507|13/168||,A|synonymous_variant|LOW|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|9/11|c.633G>A|p.Gly211Gly|1127/2087|633/948|211/315|| 22 18070763 . C T . . ANN=T|missense_variant|MODERATE|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/4|c.22G>A|p.Gly8Ser|1196/1838|22/507|8/168||,T|synonymous_variant|LOW|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|9/11|c.648C>T|p.Ala216Ala|1142/2087|648/948|216/315|| 22 18070872 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|LOC101929372|LOC101929372|transcript|NM_001288707.1|Coding|1/4|c.-88G>A|||||88|,T|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|9/10|c.730+27C>T|||||| 22 18072311 . G GAT . . ANN=GAT|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|9/10|c.731-45_731-44insAT|||||| 22 18072317 . A C . . ANN=C|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|9/10|c.731-39A>C|||||| 22 18072333 . A ACTT . . ANN=ACTT|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|9/10|c.731-23_731-22insCTT|||||| 22 18072346 . C T . . ANN=T|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|9/10|c.731-10C>T|||||| 22 18072464 . G T . . ANN=T|intron_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|10/10|c.806+33G>T|||||| 22 18072986 . T TA . . ANN=A|frameshift_variant|HIGH|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|11/11|c.935dupA|p.Cys313fs|1430/2087|936/948|312/315||INFO_REALIGN_3_PRIME 22 18073013 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|11/11|c.*11A>C|||||11| 22 18073027 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|11/11|c.*25C>A|||||25| 22 18073034 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|11/11|c.*32C>T|||||32| 22 18073035 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|11/11|c.*33G>A|||||33| 22 18073043 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|SLC25A18|SLC25A18|transcript|NM_031481.1|Coding|11/11|c.*41T>G|||||41| 22 18075417 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|9/9|c.*23C>T|||||23|,A|3_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|8/8|c.*23C>T|||||23|,A|3_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|8/8|c.*23C>T|||||23| 22 18075532 . A G . . ANN=G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|8/8|c.619-30T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|7/7|c.553-30T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|7/7|c.529-30T>C|||||| 22 18077280 . T C . . ANN=C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|8/8|c.618+15A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|7/7|c.552+15A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|7/7|c.528+15A>G|||||| 22 18077334 . G A . . ANN=A|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|8/9|c.579C>T|p.Ser193Ser|766/1405|579/681|193/226||,A|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|7/8|c.513C>T|p.Ser171Ser|700/1339|513/615|171/204||,A|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|7/8|c.489C>T|p.Ser163Ser|676/1315|489/591|163/196|| 22 18077386 . CA C . . ANN=C|splice_region_variant&intron_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|7/8|c.531-5delT||||||,C|splice_region_variant&intron_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|6/7|c.465-5delT||||||,C|splice_region_variant&intron_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|6/7|c.441-5delT|||||| 22 18080930 . G A . . ANN=A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|7/8|c.530+30C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|6/7|c.464+30C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|6/7|c.440+30C>T|||||| 22 18080962 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|7/9|c.528C>T|p.Asp176Asp|715/1405|528/681|176/226||,A|splice_region_variant&synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|6/8|c.462C>T|p.Asp154Asp|649/1339|462/615|154/204||,A|splice_region_variant&synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|6/8|c.438C>T|p.Asp146Asp|625/1315|438/591|146/196|| 22 18081046 . C G . . ANN=G|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|7/9|c.444G>C|p.Val148Val|631/1405|444/681|148/226||,G|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|6/8|c.378G>C|p.Val126Val|565/1339|378/615|126/204||,G|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|6/8|c.354G>C|p.Val118Val|541/1315|354/591|118/196|| 22 18081074 . TGA T . . ANN=T|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|6/8|c.436-22_436-21delTC||||||,T|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|5/7|c.370-22_370-21delTC||||||,T|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|5/7|c.346-22_346-21delTC|||||| 22 18081090 . G GAAATATGAAGC . . ANN=GAAATATGAAGC|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|6/8|c.436-37_436-36insGCTTCATATTT||||||,GAAATATGAAGC|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|5/7|c.370-37_370-36insGCTTCATATTT||||||,GAAATATGAAGC|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|5/7|c.346-37_346-36insGCTTCATATTT|||||| 22 18081093 . C A . . ANN=A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|6/8|c.436-39G>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|5/7|c.370-39G>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|5/7|c.346-39G>T|||||| 22 18081096 . T C . . ANN=C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|6/8|c.436-42A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|5/7|c.370-42A>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|5/7|c.346-42A>G|||||| 22 18081099 . A G . . ANN=G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|6/8|c.436-45T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|5/7|c.370-45T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|5/7|c.346-45T>C|||||| 22 18082784 . G A . . ANN=A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|6/8|c.435+9C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|5/7|c.369+9C>T||||||,A|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|5/7|c.345+9C>T|||||| 22 18082836 . C T . . ANN=T|missense_variant|MODERATE|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|6/9|c.392G>A|p.Arg131Gln|579/1405|392/681|131/226||,T|missense_variant|MODERATE|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|5/8|c.326G>A|p.Arg109Gln|513/1339|326/615|109/204||,T|missense_variant|MODERATE|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|5/8|c.302G>A|p.Arg101Gln|489/1315|302/591|101/196|| 22 18082872 . TA T . . ANN=T|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|5/8|c.367-12delT||||||,T|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|4/7|c.301-12delT||||||,T|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|4/7|c.277-12delT|||||| 22 18082898 . A C . . ANN=C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|5/8|c.367-37T>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|4/7|c.301-37T>G||||||,C|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|4/7|c.277-37T>G|||||| 22 18083979 . A G . . ANN=G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|4/8|c.277-32T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|3/7|c.211-32T>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|4/7|c.277-1118T>C|||||| 22 18095609 . T C . . ANN=C|missense_variant|MODERATE|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|4/9|c.245A>G|p.Lys82Arg|432/1405|245/681|82/226||,C|missense_variant|MODERATE|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|3/8|c.179A>G|p.Lys60Arg|366/1339|179/615|60/204||,C|missense_variant|MODERATE|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|4/8|c.245A>G|p.Lys82Arg|432/1315|245/591|82/196|| 22 18095617 . C T . . ANN=T|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|4/9|c.237G>A|p.Ala79Ala|424/1405|237/681|79/226||,T|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|3/8|c.171G>A|p.Ala57Ala|358/1339|171/615|57/204||,T|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|4/8|c.237G>A|p.Ala79Ala|424/1315|237/591|79/196|| 22 18095957 . T G . . ANN=G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|3/8|c.209+20A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|2/7|c.143+20A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|3/7|c.209+20A>C|||||| 22 18095994 . A T . . ANN=T|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|3/9|c.192T>A|p.Ile64Ile|379/1405|192/681|64/226||,T|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|2/8|c.126T>A|p.Ile42Ile|313/1339|126/615|42/204||,T|synonymous_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|3/8|c.192T>A|p.Ile64Ile|379/1315|192/591|64/196|| 22 18102311 . T G . . ANN=G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|1/8|c.34-19A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|1/7|c.34-6225A>C||||||,G|intron_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|1/7|c.34-19A>C|||||| 22 18111431 . T C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|1/9|c.-30A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|1/8|c.-30A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|1/8|c.-30A>G||||||,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|1/9|c.-30A>G|||||30|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|1/8|c.-30A>G|||||30|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|1/8|c.-30A>G|||||30| 22 18111436 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|1/9|c.-35A>G|||||35|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|1/8|c.-35A>G|||||35|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|1/8|c.-35A>G|||||35| 22 18111441 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001696.3|Coding|1/9|c.-40A>G|||||40|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039366.1|Coding|1/8|c.-40A>G|||||40|,C|5_prime_UTR_variant|MODIFIER|ATP6V1E1|ATP6V1E1|transcript|NM_001039367.1|Coding|1/8|c.-40A>G|||||40| 22 18138441 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/4|c.-37A>G|||||37|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|2/6|c.-366A>G|||||46598|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|2/6|c.-453A>G|||||46598|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|2/5|c.-37A>G|||||37|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|2/5|c.-37A>G|||||37|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|2/4|c.-37A>G|||||37|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|2/7|c.-37A>G|||||37|,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|1/5|c.193+16789A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|1/4|c.193+16789A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|1/4|c.-209+16789A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|1/5|n.14A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|1/5|n.14A>G|||||| 22 18165995 . T G . . ANN=G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|2/6|c.209T>G|p.Ile70Arg|319/4961|209/1530|70/509||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|2/5|c.209T>G|p.Ile70Arg|319/4817|209/1386|70/461||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|3/5|c.137T>G|p.Ile46Arg|490/4905|137/387|46/128||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|3/5|c.137T>G|p.Ile46Arg|490/4918|137/516|46/171||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/4|c.137T>G|p.Ile46Arg|490/4761|137/243|46/80||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|3/7|c.137T>G|p.Ile46Arg|490/5132|137/1458|46/485||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|3/6|c.-193T>G|||||19044|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|2/5|c.-193T>G|||||19044|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|3/6|c.-280T>G|||||19044|,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/3|c.122-19014T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|3/5|n.302T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|2/5|n.187T>G|||||| 22 18166021 . A G . . ANN=G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|2/6|c.235A>G|p.Ile79Val|345/4961|235/1530|79/509||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|2/5|c.235A>G|p.Ile79Val|345/4817|235/1386|79/461||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|3/5|c.163A>G|p.Ile55Val|516/4905|163/387|55/128||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|3/5|c.163A>G|p.Ile55Val|516/4918|163/516|55/171||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/4|c.163A>G|p.Ile55Val|516/4761|163/243|55/80||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|3/7|c.163A>G|p.Ile55Val|516/5132|163/1458|55/485||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|3/6|c.-167A>G|||||19018|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|2/5|c.-167A>G|||||19018|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|3/6|c.-254A>G|||||19018|,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/3|c.122-18988A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|3/5|n.328A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|2/5|n.213A>G|||||| 22 18171776 . G A . . ANN=A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|3/6|c.326G>A|p.Arg109His|436/4961|326/1530|109/509||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|3/5|c.326G>A|p.Arg109His|436/4817|326/1386|109/461||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/5|c.254G>A|p.Arg85His|607/4918|254/516|85/171||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|4/7|c.254G>A|p.Arg85His|607/5132|254/1458|85/485||,A|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|4/6|c.-163G>A|||||13263|,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/3|c.122-13233G>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|3/5|c.-101+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|2/4|c.-101+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|3/4|c.229+5689G>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+5689G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/5|n.419G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/5|n.402G>A|||||| 22 18171840 . T C . . ANN=C|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|3/6|c.390T>C|p.His130His|500/4961|390/1530|130/509||,C|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|3/5|c.390T>C|p.His130His|500/4817|390/1386|130/461||,C|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/5|c.318T>C|p.His106His|671/4918|318/516|106/171||,C|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|4/7|c.318T>C|p.His106His|671/5132|318/1458|106/485||,C|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|4/6|c.-99T>C|||||13199|,C|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/3|c.122-13169T>C||||||,C|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|3/5|c.-101+5753T>C||||||,C|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|2/4|c.-101+5753T>C||||||,C|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|3/4|c.229+5753T>C||||||,C|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+5753T>C||||||,C|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/5|n.483T>C||||||,C|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/5|n.466T>C|||||| 22 18171842 . T G . . ANN=G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|3/6|c.392T>G|p.Leu131Arg|502/4961|392/1530|131/509||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|3/5|c.392T>G|p.Leu131Arg|502/4817|392/1386|131/461||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/5|c.320T>G|p.Leu107Arg|673/4918|320/516|107/171||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|4/7|c.320T>G|p.Leu107Arg|673/5132|320/1458|107/485||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|4/6|c.-97T>G|||||13197|,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/3|c.122-13167T>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|3/5|c.-101+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|2/4|c.-101+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|3/4|c.229+5755T>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+5755T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/5|n.485T>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/5|n.468T>G|||||| 22 18178859 . C T . . ANN=T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|3/5|c.459-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|3/4|c.459-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/3|c.122-6150C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|3/5|c.-100-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|2/4|c.-100-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|4/5|c.-30-6150C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|3/4|c.230-6150C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/4|c.386+6951C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+12772C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|4/6|c.387-48C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/4|n.551+6951C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/4|n.534+6951C>T|||||| 22 18178908 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|4/6|c.460C>G|p.Pro154Ala|570/4961|460/1530|154/509||,G|missense_variant&splice_region_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|4/5|c.460C>G|p.Pro154Ala|570/4817|460/1386|154/461||,G|missense_variant&splice_region_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|5/7|c.388C>G|p.Pro130Ala|741/5132|388/1458|130/485||,G|splice_region_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|4/6|c.-99C>G||||||,G|splice_region_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|3/5|c.-99C>G||||||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|4/6|c.-99C>G|||||6131|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|3/5|c.-99C>G|||||6131|,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/3|c.122-6101C>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|4/5|c.-30-6101C>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|3/4|c.230-6101C>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/4|c.386+7000C>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+12821C>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/4|n.551+7000C>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/4|n.534+7000C>G|||||| 22 18178981 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|4/5|c.528+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|4/4|c.528+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|4/5|c.-31+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|3/4|c.-31+5C>T||||||,T|splice_region_variant&intron_variant|LOW|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|5/6|c.456+5C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|2/3|c.122-6028C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|4/5|c.-30-6028C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|3/4|c.230-6028C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/4|c.386+7073C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+12894C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/4|n.551+7073C>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/4|n.534+7073C>T|||||| 22 18185038 . A G . . ANN=G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|3/4|c.151A>G|p.Asn51Asp|504/4797|151/279|51/92||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|4/5|c.259A>G|p.Asn87Asp|612/4905|259/387|87/128||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|5/6|c.558A>G|p.Gln186Gln|668/4961|558/1530|186/509||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|6/7|c.486A>G|p.Gln162Gln|839/5132|486/1458|162/485||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|5/6|c.-1A>G|||||1|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|4/5|c.-1A>G|||||1|,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|5/6|c.-1A>G|||||1|,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|4/4|c.528+6062A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/4|c.386+13130A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+18951A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/4|n.551+13130A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/4|n.534+13130A>G|||||| 22 18185118 . A G . . ANN=G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|5/6|c.638A>G|p.Tyr213Cys|748/4961|638/1530|213/509||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|5/6|c.80A>G|p.Tyr27Cys|762/4975|80/972|27/323||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|4/5|c.80A>G|p.Tyr27Cys|591/4804|80/972|27/323||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|5/6|c.80A>G|p.Tyr27Cys|849/5062|80/972|27/323||,G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|6/7|c.566A>G|p.Tyr189Cys|919/5132|566/1458|189/485||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|3/4|c.231A>G|p.Leu77Leu|584/4797|231/279|77/92||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|4/5|c.339A>G|p.Leu113Leu|692/4905|339/387|113/128||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|4/4|c.528+6142A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/4|c.386+13210A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+19031A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/4|n.551+13210A>G||||||,G|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/4|n.534+13210A>G|||||| 22 18185123 . G T . . ANN=T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|5/6|c.643G>T|p.Ala215Ser|753/4961|643/1530|215/509||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|3/4|c.236G>T|p.Gly79Val|589/4797|236/279|79/92||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|5/6|c.85G>T|p.Ala29Ser|767/4975|85/972|29/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|4/5|c.85G>T|p.Ala29Ser|596/4804|85/972|29/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|5/6|c.85G>T|p.Ala29Ser|854/5062|85/972|29/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|4/5|c.344G>T|p.Gly115Val|697/4905|344/387|115/128||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|6/7|c.571G>T|p.Ala191Ser|924/5132|571/1458|191/485||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|4/4|c.528+6147G>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/4|c.386+13215G>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+19036G>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/4|n.551+13215G>T||||||,T|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/4|n.534+13215G>T|||||| 22 18185166 . T A . . ANN=A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|5/5|c.672+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|4/4|c.528+6190T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|3/3|c.265+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|5/5|c.114+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|4/4|c.114+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|5/5|c.114+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|4/4|c.373+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|4/4|c.386+13258T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|3/3|c.229+19079T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|6/6|c.600+14T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|4/4|n.551+13258T>A||||||,A|intron_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|4/4|n.534+13258T>A|||||| 22 18209496 . A G . . ANN=G|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.440A>G|p.Gln147Arg|793/4918|440/516|147/171||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.726A>G|p.Ala242Ala|836/4961|726/1530|242/509||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.582A>G|p.Ala194Ala|692/4817|582/1386|194/461||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.168A>G|p.Ala56Ala|850/4975|168/972|56/323||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.168A>G|p.Ala56Ala|679/4804|168/972|56/323||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.168A>G|p.Ala56Ala|937/5062|168/972|56/323||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.654A>G|p.Ala218Ala|1007/5132|654/1458|218/485||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.-187A>G|||||187|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*40A>G|||||40|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*40A>G|||||40|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*40A>G|||||40|,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.605A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.588A>G|||||| 22 18209524 . C T . . ANN=T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.754C>T|p.Pro252Ser|864/4961|754/1530|252/509||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.610C>T|p.Pro204Ser|720/4817|610/1386|204/461||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.196C>T|p.Pro66Ser|878/4975|196/972|66/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.196C>T|p.Pro66Ser|707/4804|196/972|66/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.196C>T|p.Pro66Ser|965/5062|196/972|66/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.682C>T|p.Pro228Ser|1035/5132|682/1458|228/485||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.468C>T|p.Cys156Cys|821/4918|468/516|156/171||,T|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.-159C>T|||||159|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*68C>T|||||68|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*68C>T|||||68|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*68C>T|||||68|,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.633C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.616C>T|||||| 22 18209599 . C T . . ANN=T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.829C>T|p.Pro277Ser|939/4961|829/1530|277/509||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.685C>T|p.Pro229Ser|795/4817|685/1386|229/461||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.271C>T|p.Pro91Ser|953/4975|271/972|91/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.271C>T|p.Pro91Ser|782/4804|271/972|91/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.271C>T|p.Pro91Ser|1040/5062|271/972|91/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.757C>T|p.Pro253Ser|1110/5132|757/1458|253/485||,T|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.-84C>T|||||84|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*143C>T|||||143|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*143C>T|||||143|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*27C>T|||||27|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*143C>T|||||143|,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.708C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.691C>T|||||| 22 18209613 . A G . . ANN=G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.843A>G|p.Ser281Ser|953/4961|843/1530|281/509||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.699A>G|p.Ser233Ser|809/4817|699/1386|233/461||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.285A>G|p.Ser95Ser|967/4975|285/972|95/323||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.285A>G|p.Ser95Ser|796/4804|285/972|95/323||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.285A>G|p.Ser95Ser|1054/5062|285/972|95/323||,G|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.771A>G|p.Ser257Ser|1124/5132|771/1458|257/485||,G|5_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.-70A>G|||||70|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*157A>G|||||157|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*157A>G|||||157|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*41A>G|||||41|,G|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*157A>G|||||157|,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.722A>G||||||,G|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.705A>G|||||| 22 18209718 . C T . . ANN=T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.948C>T|p.Asn316Asn|1058/4961|948/1530|316/509||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.804C>T|p.Asn268Asn|914/4817|804/1386|268/461||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.390C>T|p.Asn130Asn|1072/4975|390/972|130/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.390C>T|p.Asn130Asn|901/4804|390/972|130/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.390C>T|p.Asn130Asn|1159/5062|390/972|130/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.876C>T|p.Asn292Asn|1229/5132|876/1458|292/485||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.36C>T|p.Asn12Asn|444/4347|36/618|12/205||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*262C>T|||||262|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*262C>T|||||262|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*146C>T|||||146|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*262C>T|||||262|,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.827C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.810C>T|||||| 22 18209719 . G A . . ANN=A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.949G>A|p.Gly317Arg|1059/4961|949/1530|317/509||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.805G>A|p.Gly269Arg|915/4817|805/1386|269/461||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.391G>A|p.Gly131Arg|1073/4975|391/972|131/323||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.391G>A|p.Gly131Arg|902/4804|391/972|131/323||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.391G>A|p.Gly131Arg|1160/5062|391/972|131/323||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.877G>A|p.Gly293Arg|1230/5132|877/1458|293/485||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.37G>A|p.Gly13Arg|445/4347|37/618|13/205||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*263G>A|||||263|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*263G>A|||||263|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*147G>A|||||147|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*263G>A|||||263|,A|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.828G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.811G>A|||||| 22 18209769 . C T . . ANN=T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.999C>T|p.His333His|1109/4961|999/1530|333/509||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.855C>T|p.His285His|965/4817|855/1386|285/461||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.441C>T|p.His147His|1123/4975|441/972|147/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.441C>T|p.His147His|952/4804|441/972|147/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.441C>T|p.His147His|1210/5062|441/972|147/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.927C>T|p.His309His|1280/5132|927/1458|309/485||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.87C>T|p.His29His|495/4347|87/618|29/205||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*313C>T|||||313|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*313C>T|||||313|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*197C>T|||||197|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*313C>T|||||313|,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.878C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.861C>T|||||| 22 18209920 . C T . . ANN=T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.1150C>T|p.Pro384Ser|1260/4961|1150/1530|384/509||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.1006C>T|p.Pro336Ser|1116/4817|1006/1386|336/461||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.592C>T|p.Pro198Ser|1274/4975|592/972|198/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.592C>T|p.Pro198Ser|1103/4804|592/972|198/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.592C>T|p.Pro198Ser|1361/5062|592/972|198/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.1078C>T|p.Pro360Ser|1431/5132|1078/1458|360/485||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.238C>T|p.Pro80Ser|646/4347|238/618|80/205||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*464C>T|||||464|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*464C>T|||||464|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*348C>T|||||348|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*464C>T|||||464|,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.1029C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.1012C>T|||||| 22 18209989 . G A . . ANN=A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.1219G>A|p.Glu407Lys|1329/4961|1219/1530|407/509||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.1075G>A|p.Glu359Lys|1185/4817|1075/1386|359/461||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.661G>A|p.Glu221Lys|1343/4975|661/972|221/323||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.661G>A|p.Glu221Lys|1172/4804|661/972|221/323||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.661G>A|p.Glu221Lys|1430/5062|661/972|221/323||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.1147G>A|p.Glu383Lys|1500/5132|1147/1458|383/485||,A|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.307G>A|p.Glu103Lys|715/4347|307/618|103/205||,A|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*533G>A|||||533|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*533G>A|||||533|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*417G>A|||||417|,A|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*533G>A|||||533|,A|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.1098G>A||||||,A|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.1081G>A|||||| 22 18210130 . GAGA G . . ANN=|inframe_deletion|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.1366_1368delAAG|p.Lys456del|1476/4961|1366/1530|456/509||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.1222_1224delAAG|p.Lys408del|1332/4817|1222/1386|408/461||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.808_810delAAG|p.Lys270del|1490/4975|808/972|270/323||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.808_810delAAG|p.Lys270del|1319/4804|808/972|270/323||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.808_810delAAG|p.Lys270del|1577/5062|808/972|270/323||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.1294_1296delAAG|p.Lys432del|1647/5132|1294/1458|432/485||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.454_456delAAG|p.Lys152del|862/4347|454/618|152/205||INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*680_*682delAAG|||||680|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*680_*682delAAG|||||680|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*564_*566delAAG|||||564|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*680_*682delAAG|||||680|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.1245_1247delAAG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.1228_1230delAAG||||||INFO_REALIGN_3_PRIME 22 18210177 . C T . . ANN=T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.1407C>T|p.Pro469Pro|1517/4961|1407/1530|469/509||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.1263C>T|p.Pro421Pro|1373/4817|1263/1386|421/461||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.849C>T|p.Pro283Pro|1531/4975|849/972|283/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.849C>T|p.Pro283Pro|1360/4804|849/972|283/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.849C>T|p.Pro283Pro|1618/5062|849/972|283/323||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.1335C>T|p.Pro445Pro|1688/5132|1335/1458|445/485||,T|synonymous_variant|LOW|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.495C>T|p.Pro165Pro|903/4347|495/618|165/205||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*721C>T|||||721|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*721C>T|||||721|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*605C>T|||||605|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*721C>T|||||721|,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.1286C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.1269C>T|||||| 22 18210242 . C T . . ANN=T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270726.1|Coding|6/6|c.1472C>T|p.Ala491Val|1582/4961|1472/1530|491/509||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270727.1|Coding|5/5|c.1328C>T|p.Ala443Val|1438/4817|1328/1386|443/461||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270729.1|Coding|6/6|c.914C>T|p.Ala305Val|1596/4975|914/972|305/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270730.1|Coding|5/5|c.914C>T|p.Ala305Val|1425/4804|914/972|305/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270731.1|Coding|6/6|c.914C>T|p.Ala305Val|1683/5062|914/972|305/323||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_015367.3|Coding|7/7|c.1400C>T|p.Ala467Val|1753/5132|1400/1458|467/485||,T|missense_variant|MODERATE|BCL2L13|BCL2L13|transcript|NM_001270733.1|Coding|2/2|c.560C>T|p.Ala187Val|968/4347|560/618|187/205||,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270728.1|Coding|4/4|c.*786C>T|||||786|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270732.1|Coding|5/5|c.*786C>T|||||786|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270734.1|Coding|5/5|c.*670C>T|||||670|,T|3_prime_UTR_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NM_001270735.1|Coding|4/4|c.*786C>T|||||786|,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073068.1|Noncoding|5/5|n.1351C>T||||||,T|non_coding_exon_variant|MODIFIER|BCL2L13|BCL2L13|transcript|NR_073069.1|Noncoding|5/5|n.1334C>T|||||| 22 18218311 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|6/6|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|4/4|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|6/6|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|5/5|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|4/4|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|5/5|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|6/6|c.*35C>T|||||35| 22 18218344 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|6/6|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|4/4|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|6/6|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|5/5|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|4/4|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|5/5|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|6/6|c.*2C>T|||||2| 22 18218353 . A G . . ANN=G|missense_variant|MODERATE|BID|BID|transcript|NM_197966.2|Coding|6/6|c.719T>C|p.Met240Thr|1072/2519|719/726|240/241||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001244572.1|Coding|4/4|c.293T>C|p.Met98Thr|791/2238|293/300|98/99||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001196.3|Coding|6/6|c.581T>C|p.Met194Thr|754/2201|581/588|194/195||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001244569.1|Coding|5/5|c.293T>C|p.Met98Thr|543/1990|293/300|98/99||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001244570.1|Coding|4/4|c.293T>C|p.Met98Thr|473/1920|293/300|98/99||,G|missense_variant|MODERATE|BID|BID|transcript|NM_197967.2|Coding|5/5|c.293T>C|p.Met98Thr|684/2131|293/300|98/99||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001244567.1|Coding|6/6|c.581T>C|p.Met194Thr|665/2112|581/588|194/195|| 22 18220746 . G A . . ANN=A|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|5/5|c.714+37C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|3/3|c.288+37C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|5/5|c.576+37C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|4/4|c.288+37C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|3/3|c.288+37C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|4/4|c.288+37C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|5/5|c.576+37C>T|||||| 22 18220774 . G C . . ANN=C|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|5/5|c.714+9C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|3/3|c.288+9C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|5/5|c.576+9C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|4/4|c.288+9C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|3/3|c.288+9C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|4/4|c.288+9C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|5/5|c.576+9C>G|||||| 22 18220811 . C T . . ANN=T|missense_variant|MODERATE|BID|BID|transcript|NM_197966.2|Coding|5/6|c.686G>A|p.Arg229His|1039/2519|686/726|229/241||,T|missense_variant|MODERATE|BID|BID|transcript|NM_001244572.1|Coding|3/4|c.260G>A|p.Arg87His|758/2238|260/300|87/99||,T|missense_variant|MODERATE|BID|BID|transcript|NM_001196.3|Coding|5/6|c.548G>A|p.Arg183His|721/2201|548/588|183/195||,T|missense_variant|MODERATE|BID|BID|transcript|NM_001244569.1|Coding|4/5|c.260G>A|p.Arg87His|510/1990|260/300|87/99||,T|missense_variant|MODERATE|BID|BID|transcript|NM_001244570.1|Coding|3/4|c.260G>A|p.Arg87His|440/1920|260/300|87/99||,T|missense_variant|MODERATE|BID|BID|transcript|NM_197967.2|Coding|4/5|c.260G>A|p.Arg87His|651/2131|260/300|87/99||,T|missense_variant|MODERATE|BID|BID|transcript|NM_001244567.1|Coding|5/6|c.548G>A|p.Arg183His|632/2112|548/588|183/195|| 22 18220831 . A G . . ANN=G|synonymous_variant|LOW|BID|BID|transcript|NM_197966.2|Coding|5/6|c.666T>C|p.Asn222Asn|1019/2519|666/726|222/241||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001244572.1|Coding|3/4|c.240T>C|p.Asn80Asn|738/2238|240/300|80/99||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001196.3|Coding|5/6|c.528T>C|p.Asn176Asn|701/2201|528/588|176/195||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001244569.1|Coding|4/5|c.240T>C|p.Asn80Asn|490/1990|240/300|80/99||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001244570.1|Coding|3/4|c.240T>C|p.Asn80Asn|420/1920|240/300|80/99||,G|synonymous_variant|LOW|BID|BID|transcript|NM_197967.2|Coding|4/5|c.240T>C|p.Asn80Asn|631/2131|240/300|80/99||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001244567.1|Coding|5/6|c.528T>C|p.Asn176Asn|612/2112|528/588|176/195|| 22 18220857 . G A . . ANN=A|missense_variant|MODERATE|BID|BID|transcript|NM_197966.2|Coding|5/6|c.640C>T|p.Arg214Cys|993/2519|640/726|214/241||,A|missense_variant|MODERATE|BID|BID|transcript|NM_001244572.1|Coding|3/4|c.214C>T|p.Arg72Cys|712/2238|214/300|72/99||,A|missense_variant|MODERATE|BID|BID|transcript|NM_001196.3|Coding|5/6|c.502C>T|p.Arg168Cys|675/2201|502/588|168/195||,A|missense_variant|MODERATE|BID|BID|transcript|NM_001244569.1|Coding|4/5|c.214C>T|p.Arg72Cys|464/1990|214/300|72/99||,A|missense_variant|MODERATE|BID|BID|transcript|NM_001244570.1|Coding|3/4|c.214C>T|p.Arg72Cys|394/1920|214/300|72/99||,A|missense_variant|MODERATE|BID|BID|transcript|NM_197967.2|Coding|4/5|c.214C>T|p.Arg72Cys|605/2131|214/300|72/99||,A|missense_variant|MODERATE|BID|BID|transcript|NM_001244567.1|Coding|5/6|c.502C>T|p.Arg168Cys|586/2112|502/588|168/195|| 22 18220916 . A G . . ANN=G|missense_variant|MODERATE|BID|BID|transcript|NM_197966.2|Coding|5/6|c.581T>C|p.Met194Thr|934/2519|581/726|194/241||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001244572.1|Coding|3/4|c.155T>C|p.Met52Thr|653/2238|155/300|52/99||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001196.3|Coding|5/6|c.443T>C|p.Met148Thr|616/2201|443/588|148/195||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001244569.1|Coding|4/5|c.155T>C|p.Met52Thr|405/1990|155/300|52/99||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001244570.1|Coding|3/4|c.155T>C|p.Met52Thr|335/1920|155/300|52/99||,G|missense_variant|MODERATE|BID|BID|transcript|NM_197967.2|Coding|4/5|c.155T>C|p.Met52Thr|546/2131|155/300|52/99||,G|missense_variant|MODERATE|BID|BID|transcript|NM_001244567.1|Coding|5/6|c.443T>C|p.Met148Thr|527/2112|443/588|148/195|| 22 18222085 . C T . . ANN=T|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|4/5|c.501+30G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|2/3|c.75+30G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|4/5|c.363+30G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|3/4|c.75+30G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|2/3|c.75+30G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|3/4|c.75+30G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|4/5|c.363+30G>A|||||| 22 18222089 . C A . . ANN=A|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|4/5|c.501+26G>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|2/3|c.75+26G>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|4/5|c.363+26G>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|3/4|c.75+26G>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|2/3|c.75+26G>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|3/4|c.75+26G>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|4/5|c.363+26G>T|||||| 22 18222113 . A G . . ANN=G|splice_donor_variant&intron_variant|HIGH|BID|BID|transcript|NM_197966.2|Coding|4/5|c.501+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|BID|transcript|NM_001244572.1|Coding|2/3|c.75+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|BID|transcript|NM_001196.3|Coding|4/5|c.363+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|BID|transcript|NM_001244569.1|Coding|3/4|c.75+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|BID|transcript|NM_001244570.1|Coding|2/3|c.75+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|BID|transcript|NM_197967.2|Coding|3/4|c.75+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|BID|BID|transcript|NM_001244567.1|Coding|4/5|c.363+2T>C||||||;LOF=(BID|BID|7|1.00) 22 18222169 . C T . . ANN=T|synonymous_variant|LOW|BID|BID|transcript|NM_197966.2|Coding|4/6|c.447G>A|p.Pro149Pro|800/2519|447/726|149/241||,T|synonymous_variant|LOW|BID|BID|transcript|NM_001244572.1|Coding|2/4|c.21G>A|p.Pro7Pro|519/2238|21/300|7/99||,T|synonymous_variant|LOW|BID|BID|transcript|NM_001196.3|Coding|4/6|c.309G>A|p.Pro103Pro|482/2201|309/588|103/195||,T|synonymous_variant|LOW|BID|BID|transcript|NM_001244569.1|Coding|3/5|c.21G>A|p.Pro7Pro|271/1990|21/300|7/99||,T|synonymous_variant|LOW|BID|BID|transcript|NM_001244570.1|Coding|2/4|c.21G>A|p.Pro7Pro|201/1920|21/300|7/99||,T|synonymous_variant|LOW|BID|BID|transcript|NM_197967.2|Coding|3/5|c.21G>A|p.Pro7Pro|412/2131|21/300|7/99||,T|synonymous_variant|LOW|BID|BID|transcript|NM_001244567.1|Coding|4/6|c.309G>A|p.Pro103Pro|393/2112|309/588|103/195|| 22 18222199 . G A . . ANN=A|synonymous_variant|LOW|BID|BID|transcript|NM_197966.2|Coding|4/6|c.417C>T|p.Val139Val|770/2519|417/726|139/241||,A|synonymous_variant|LOW|BID|BID|transcript|NM_001196.3|Coding|4/6|c.279C>T|p.Val93Val|452/2201|279/588|93/195||,A|synonymous_variant|LOW|BID|BID|transcript|NM_001244567.1|Coding|4/6|c.279C>T|p.Val93Val|363/2112|279/588|93/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|BID|transcript|NM_001244572.1|Coding|2/4|c.-10C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|BID|transcript|NM_001244569.1|Coding|3/5|c.-10C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|BID|transcript|NM_001244570.1|Coding|2/4|c.-10C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|BID|transcript|NM_197967.2|Coding|3/5|c.-10C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|2/4|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|3/5|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|2/4|c.-10C>T|||||10|,A|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|3/5|c.-10C>T|||||10| 22 18222263 . A G . . ANN=G|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|3/5|c.362-9T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-9T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|3/5|c.224-9T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-9T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-9T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/4|c.-65-9T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|3/5|c.224-9T>C|||||| 22 18226521 . C T . . ANN=T|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|3/5|c.361+48G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4267G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|3/5|c.223+48G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4267G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4267G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/4|c.-66+48G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|3/5|c.223+48G>A|||||| 22 18226528 . G A . . ANN=A|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|3/5|c.361+41C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4274C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|3/5|c.223+41C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4274C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4274C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/4|c.-66+41C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|3/5|c.223+41C>T|||||| 22 18226590 . G A . . ANN=A|missense_variant|MODERATE|BID|BID|transcript|NM_197966.2|Coding|3/6|c.340C>T|p.Arg114Cys|693/2519|340/726|114/241||,A|missense_variant|MODERATE|BID|BID|transcript|NM_001196.3|Coding|3/6|c.202C>T|p.Arg68Cys|375/2201|202/588|68/195||,A|missense_variant|MODERATE|BID|BID|transcript|NM_001244567.1|Coding|3/6|c.202C>T|p.Arg68Cys|286/2112|202/588|68/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-87C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-87C>T|||||4401|,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4336C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4336C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4336C>T|||||| 22 18226612 . A G . . ANN=G|synonymous_variant|LOW|BID|BID|transcript|NM_197966.2|Coding|3/6|c.318T>C|p.Asp106Asp|671/2519|318/726|106/241||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001196.3|Coding|3/6|c.180T>C|p.Asp60Asp|353/2201|180/588|60/195||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001244567.1|Coding|3/6|c.180T>C|p.Asp60Asp|264/2112|180/588|60/195||,G|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-109T>C|||||4423|,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4358T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4358T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4358T>C|||||| 22 18226666 . G A . . ANN=A|synonymous_variant|LOW|BID|BID|transcript|NM_197966.2|Coding|3/6|c.264C>T|p.His88His|617/2519|264/726|88/241||,A|synonymous_variant|LOW|BID|BID|transcript|NM_001196.3|Coding|3/6|c.126C>T|p.His42His|299/2201|126/588|42/195||,A|synonymous_variant|LOW|BID|BID|transcript|NM_001244567.1|Coding|3/6|c.126C>T|p.His42His|210/2112|126/588|42/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-163C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-163C>T|||||4477|,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4412C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4412C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4412C>T|||||| 22 18226689 . T C . . ANN=C|missense_variant|MODERATE|BID|BID|transcript|NM_197966.2|Coding|3/6|c.241A>G|p.Arg81Gly|594/2519|241/726|81/241||,C|missense_variant|MODERATE|BID|BID|transcript|NM_001196.3|Coding|3/6|c.103A>G|p.Arg35Gly|276/2201|103/588|35/195||,C|missense_variant|MODERATE|BID|BID|transcript|NM_001244567.1|Coding|3/6|c.103A>G|p.Arg35Gly|187/2112|103/588|35/195||,C|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-186A>G|||||4500|,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4435A>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4435A>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4435A>G|||||| 22 18226708 . A G . . ANN=G|synonymous_variant|LOW|BID|BID|transcript|NM_197966.2|Coding|3/6|c.222T>C|p.Cys74Cys|575/2519|222/726|74/241||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001196.3|Coding|3/6|c.84T>C|p.Cys28Cys|257/2201|84/588|28/195||,G|synonymous_variant|LOW|BID|BID|transcript|NM_001244567.1|Coding|3/6|c.84T>C|p.Cys28Cys|168/2112|84/588|28/195||,G|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-205T>C|||||4519|,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4454T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4454T>C||||||,G|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4454T>C|||||| 22 18226764 . T C . . ANN=C|missense_variant|MODERATE|BID|BID|transcript|NM_197966.2|Coding|3/6|c.166A>G|p.Ser56Gly|519/2519|166/726|56/241||,C|missense_variant|MODERATE|BID|BID|transcript|NM_001196.3|Coding|3/6|c.28A>G|p.Ser10Gly|201/2201|28/588|10/195||,C|missense_variant|MODERATE|BID|BID|transcript|NM_001244567.1|Coding|3/6|c.28A>G|p.Ser10Gly|112/2112|28/588|10/195||,C|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-261A>G|||||4575|,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4510A>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4510A>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4510A>G|||||| 22 18226771 . G A . . ANN=A|synonymous_variant|LOW|BID|BID|transcript|NM_197966.2|Coding|3/6|c.159C>T|p.Asn53Asn|512/2519|159/726|53/241||,A|synonymous_variant|LOW|BID|BID|transcript|NM_001196.3|Coding|3/6|c.21C>T|p.Asn7Asn|194/2201|21/588|7/195||,A|synonymous_variant|LOW|BID|BID|transcript|NM_001244567.1|Coding|3/6|c.21C>T|p.Asn7Asn|105/2112|21/588|7/195||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-268C>T||||||,A|5_prime_UTR_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|2/5|c.-268C>T|||||4582|,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4517C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4517C>T||||||,A|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4517C>T|||||| 22 18226792 . G C . . ANN=C|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|2/5|c.151-13C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-4538C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|2/5|c.13-13C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-65-4538C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-4538C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|1/4|c.-276-13C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|2/5|c.13-13C>G|||||| 22 18232837 . C T . . ANN=T|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|2/5|c.150+34G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-10583G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|2/5|c.12+34G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|2/4|c.-66+34G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-10583G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|1/4|c.-276-6058G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|2/5|c.12+34G>A|||||| 22 18232954 . C T . . ANN=T|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|1/5|c.81-14G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-10700G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|1/5|c.-58-14G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|1/4|c.-135-14G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-10700G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|1/4|c.-276-6175G>A||||||,T|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|1/5|c.-58-14G>A|||||| 22 18232966 . G C . . ANN=C|intron_variant|MODIFIER|BID|BID|transcript|NM_197966.2|Coding|1/5|c.81-26C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244572.1|Coding|1/3|c.-65-10712C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001196.3|Coding|1/5|c.-58-26C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244569.1|Coding|1/4|c.-135-26C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244570.1|Coding|1/3|c.-65-10712C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_197967.2|Coding|1/4|c.-276-6187C>G||||||,C|intron_variant|MODIFIER|BID|BID|transcript|NM_001244567.1|Coding|1/5|c.-58-26C>G|||||| 22 18273463 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|32/32|c.*35C>T|||||35| 22 18273475 . A T . . ANN=T|3_prime_UTR_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|32/32|c.*23T>A|||||23| 22 18273560 . C G . . ANN=G|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|32/32|c.5947G>C|p.Glu1983Gln|6300/9444|5947/6009|1983/2002|| 22 18273641 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|32/32|c.5866A>G|p.Ile1956Val|6219/9444|5866/6009|1956/2002|| 22 18273696 . A G . . ANN=G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|31/31|c.5825-14T>C|||||| 22 18273697 . A C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|31/31|c.5825-15T>G|||||| 22 18273976 . C A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|30/32|c.5742G>T|p.Leu1914Leu|6095/9444|5742/6009|1914/2002|| 22 18273978 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|30/32|c.5740C>T|p.Leu1914Leu|6093/9444|5740/6009|1914/2002|| 22 18274009 . C G . . ANN=G|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|30/32|c.5709G>C|p.Glu1903Asp|6062/9444|5709/6009|1903/2002|| 22 18274071 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|29/31|c.5651-4G>A|||||| 22 18274089 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|29/31|c.5651-22G>A|||||| 22 18274092 . G C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|29/31|c.5651-25C>G|||||| 22 18291566 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|29/31|c.5650+44C>T|||||| 22 18293422 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|28/31|c.5556+47G>A|||||| 22 18293502 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|28/32|c.5523G>A|p.Lys1841Lys|5876/9444|5523/6009|1841/2002|| 22 18293533 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|28/32|c.5492G>A|p.Arg1831His|5845/9444|5492/6009|1831/2002|| 22 18293565 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|28/32|c.5460G>A|p.Thr1820Thr|5813/9444|5460/6009|1820/2002|| 22 18293574 . T C . . ANN=C|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|28/32|c.5451A>G|p.Arg1817Arg|5804/9444|5451/6009|1817/2002|| 22 18293618 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|27/31|c.5446-39C>T|||||| 22 18299495 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|27/32|c.5406C>T|p.Asp1802Asp|5759/9444|5406/6009|1802/2002|| 22 18300031 . G T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/31|c.5350+46C>A|||||| 22 18300040 . C A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/31|c.5350+37G>T|||||| 22 18300070 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/31|c.5350+7C>T|||||| 22 18300089 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5338G>A|p.Val1780Ile|5691/9444|5338/6009|1780/2002|| 22 18300171 . C A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5256G>T|p.Lys1752Asn|5609/9444|5256/6009|1752/2002|| 22 18300200 . C A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5227G>T|p.Val1743Phe|5580/9444|5227/6009|1743/2002|| 22 18300201 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5226C>T|p.Ser1742Ser|5579/9444|5226/6009|1742/2002|| 22 18300240 . T C . . ANN=C|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5187A>G|p.Leu1729Leu|5540/9444|5187/6009|1729/2002|| 22 18300264 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5163G>A|p.Pro1721Pro|5516/9444|5163/6009|1721/2002|| 22 18300277 . T A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5150A>T|p.Glu1717Val|5503/9444|5150/6009|1717/2002|| 22 18300311 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5116C>T|p.Arg1706Cys|5469/9444|5116/6009|1706/2002|| 22 18300348 . A G . . ANN=G|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5079T>C|p.Ser1693Ser|5432/9444|5079/6009|1693/2002|| 22 18300420 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.5007C>T|p.Ser1669Ser|5360/9444|5007/6009|1669/2002|| 22 18300470 . G T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4957C>A|p.Pro1653Thr|5310/9444|4957/6009|1653/2002|| 22 18300491 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4936C>T|p.Arg1646Trp|5289/9444|4936/6009|1646/2002|| 22 18300594 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4833C>T|p.Asp1611Asp|5186/9444|4833/6009|1611/2002|| 22 18300610 . C A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4817G>T|p.Ser1606Ile|5170/9444|4817/6009|1606/2002|| 22 18300637 . A T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4790T>A|p.Met1597Lys|5143/9444|4790/6009|1597/2002|| 22 18300641 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4786C>T|p.Arg1596Cys|5139/9444|4786/6009|1596/2002|| 22 18300705 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4722G>A|p.Thr1574Thr|5075/9444|4722/6009|1574/2002|| 22 18300724 . A G . . ANN=G|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4703T>C|p.Leu1568Pro|5056/9444|4703/6009|1568/2002|| 22 18300775 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4652C>T|p.Pro1551Leu|5005/9444|4652/6009|1551/2002|| 22 18300793 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4634C>T|p.Thr1545Met|4987/9444|4634/6009|1545/2002|| 22 18300844 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4583A>G|p.Asp1528Gly|4936/9444|4583/6009|1528/2002|| 22 18300879 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4548C>T|p.Ser1516Ser|4901/9444|4548/6009|1516/2002|| 22 18300940 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4487G>A|p.Arg1496Gln|4840/9444|4487/6009|1496/2002|| 22 18300954 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4473C>T|p.Pro1491Pro|4826/9444|4473/6009|1491/2002|| 22 18301084 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4343C>T|p.Ser1448Leu|4696/9444|4343/6009|1448/2002|| 22 18301137 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4290G>A|p.Leu1430Leu|4643/9444|4290/6009|1430/2002|| 22 18301172 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4255C>T|p.Arg1419Cys|4608/9444|4255/6009|1419/2002|| 22 18301186 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4241G>A|p.Ser1414Asn|4594/9444|4241/6009|1414/2002|| 22 18301190 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4237C>T|p.Arg1413Cys|4590/9444|4237/6009|1413/2002|| 22 18301238 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4189G>A|p.Glu1397Lys|4542/9444|4189/6009|1397/2002|| 22 18301272 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4155C>T|p.Ile1385Ile|4508/9444|4155/6009|1385/2002|| 22 18301314 . G T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.4113C>A|p.Ser1371Ser|4466/9444|4113/6009|1371/2002|| 22 18301508 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.3919A>G|p.Arg1307Gly|4272/9444|3919/6009|1307/2002|| 22 18301569 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.3858G>A|p.Pro1286Pro|4211/9444|3858/6009|1286/2002|| 22 18301570 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.3857C>T|p.Pro1286Leu|4210/9444|3857/6009|1286/2002|| 22 18301600 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.3827C>T|p.Thr1276Ile|4180/9444|3827/6009|1276/2002|| 22 18301666 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.3761C>T|p.Pro1254Leu|4114/9444|3761/6009|1254/2002|| 22 18301674 . G T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.3753C>A|p.Ser1251Ser|4106/9444|3753/6009|1251/2002|| 22 18301685 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.3742G>A|p.Val1248Met|4095/9444|3742/6009|1248/2002|| 22 18301693 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|26/32|c.3734A>G|p.Gln1245Arg|4087/9444|3734/6009|1245/2002|| 22 18301942 . C CG . . ANN=CG|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|25/31|c.3532-48_3532-47insC|||||| 22 18301943 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|25/31|c.3532-48C>T|||||| 22 18304176 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|25/31|c.3531+17C>T|||||| 22 18304751 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|24/31|c.3448+45G>A|||||| 22 18304753 . T C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|24/31|c.3448+43A>G|||||| 22 18304784 . A C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|24/31|c.3448+12T>G|||||| 22 18304804 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|24/32|c.3440A>G|p.Gln1147Arg|3793/9444|3440/6009|1147/2002|| 22 18304814 . G C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|24/32|c.3430C>G|p.Pro1144Ala|3783/9444|3430/6009|1144/2002|| 22 18304821 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|24/32|c.3423C>T|p.Pro1141Pro|3776/9444|3423/6009|1141/2002|| 22 18304891 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|24/32|c.3353G>A|p.Arg1118His|3706/9444|3353/6009|1118/2002|| 22 18304914 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|24/32|c.3330G>A|p.Pro1110Pro|3683/9444|3330/6009|1110/2002|| 22 18304945 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|23/31|c.3308-9C>T|||||| 22 18304978 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|23/31|c.3308-42C>T|||||| 22 18305684 . C A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|23/31|c.3307+29G>T|||||| 22 18305777 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|23/32|c.3243C>T|p.Ala1081Ala|3596/9444|3243/6009|1081/2002|| 22 18305797 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|23/32|c.3223G>A|p.Asp1075Asn|3576/9444|3223/6009|1075/2002|| 22 18310363 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|22/31|c.3193+47G>A|||||| 22 18310367 . T C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|22/31|c.3193+43A>G|||||| 22 18310424 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|22/32|c.3179C>T|p.Ser1060Phe|3532/9444|3179/6009|1060/2002|| 22 18310439 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|22/32|c.3164C>T|p.Ala1055Val|3517/9444|3164/6009|1055/2002|| 22 18314678 . TTCC T,TTCCTCC . . ANN=TTCCTCC|inframe_insertion|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|21/32|c.2991_2993dupGGA|p.Glu998dup|3346/9444|2993/6009|998/2002||,T|disruptive_inframe_deletion|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|21/32|c.2994_2996delGGA|p.Glu999del|3349/9444|2994/6009|998/2002|| 22 18314735 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|21/32|c.2940G>A|p.Glu980Glu|3293/9444|2940/6009|980/2002|| 22 18314810 . T C . . ANN=C|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|21/32|c.2865A>G|p.Pro955Pro|3218/9444|2865/6009|955/2002|| 22 18314815 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|21/32|c.2860C>T|p.Pro954Ser|3213/9444|2860/6009|954/2002|| 22 18324564 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|20/31|c.2801+24G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|19/19|c.2801+24G>A|||||| 22 18324571 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|20/31|c.2801+17G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|19/19|c.2801+17G>A|||||| 22 18324626 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|20/32|c.2763C>T|p.Ser921Ser|3116/9444|2763/6009|921/2002||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|19/20|c.2763C>T|p.Ser921Ser|2837/3090|2763/2901|921/966|| 22 18347474 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|22/22|c.3168G>A|p.Ser1056Ser|3242/7795|3168/3222|1056/1073||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|19/31|c.2605+191G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|18/19|c.2605+191G>A|||||| 22 18347642 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|22/22|c.3000C>T|p.Gly1000Gly|3074/7795|3000/3222|1000/1073||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|19/31|c.2605+23C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|18/19|c.2605+23C>T|||||| 22 18347687 . G C . . ANN=C|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|19/32|c.2583C>G|p.Ala861Ala|2936/9444|2583/6009|861/2002||,C|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|18/20|c.2583C>G|p.Ala861Ala|2657/3090|2583/2901|861/966||,C|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|22/22|c.2955C>G|p.Ala985Ala|3029/7795|2955/3222|985/1073|| 22 18347695 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|19/32|c.2575G>A|p.Ala859Thr|2928/9444|2575/6009|859/2002||,T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|18/20|c.2575G>A|p.Ala859Thr|2649/3090|2575/2901|859/966||,T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|22/22|c.2947G>A|p.Ala983Thr|3021/7795|2947/3222|983/1073|| 22 18347707 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|19/32|c.2563G>A|p.Gly855Arg|2916/9444|2563/6009|855/2002||,T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|18/20|c.2563G>A|p.Gly855Arg|2637/3090|2563/2901|855/966||,T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|22/22|c.2935G>A|p.Gly979Arg|3009/7795|2935/3222|979/1073|| 22 18347708 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|19/32|c.2562C>T|p.Asn854Asn|2915/9444|2562/6009|854/2002||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|18/20|c.2562C>T|p.Asn854Asn|2636/3090|2562/2901|854/966||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|22/22|c.2934C>T|p.Asn978Asn|3008/7795|2934/3222|978/1073|| 22 18347784 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|18/31|c.2518-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|17/19|c.2518-32G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|21/21|c.2890-32G>A|||||| 22 18348650 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|18/31|c.2517+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|17/19|c.2517+40G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|21/21|c.2889+40G>A|||||| 22 18348823 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|17/31|c.2429-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|16/19|c.2429-45C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|20/21|c.2801-45C>T|||||| 22 18354582 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|17/31|c.2428+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|16/19|c.2428+21G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|20/21|c.2800+21G>A|||||| 22 18354637 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|17/32|c.2394G>A|p.Leu798Leu|2747/9444|2394/6009|798/2002||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|16/20|c.2394G>A|p.Leu798Leu|2468/3090|2394/2901|798/966||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|20/22|c.2766G>A|p.Leu922Leu|2840/7795|2766/3222|922/1073|| 22 18354766 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|17/32|c.2265G>A|p.Pro755Pro|2618/9444|2265/6009|755/2002||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|16/20|c.2265G>A|p.Pro755Pro|2339/3090|2265/2901|755/966||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|20/22|c.2637G>A|p.Pro879Pro|2711/7795|2637/3222|879/1073|| 22 18354783 . T G . . ANN=G|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|17/32|c.2248A>C|p.Met750Leu|2601/9444|2248/6009|750/2002||,G|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|16/20|c.2248A>C|p.Met750Leu|2322/3090|2248/2901|750/966||,G|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|20/22|c.2620A>C|p.Met874Leu|2694/7795|2620/3222|874/1073|| 22 18354804 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2242-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2242-15C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|19/21|c.2614-15C>T|||||| 22 18355492 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2242-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2242-703C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|19/21|c.2613+21C>T|||||| 22 18355576 . C A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|19/22|c.2550G>T|p.Glu850Asp|2624/7795|2550/3222|850/1073||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2242-787G>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2242-787G>T|||||| 22 18355626 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|18/21|c.2506-6C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2242-837C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2242-837C>T|||||| 22 18358301 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|18/22|c.2417G>A|p.Arg806His|2491/7795|2417/3222|806/1073||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2242-3512G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2242-3512G>A|||||| 22 18358348 . A G . . ANN=G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2242-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2242-3559T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|17/21|c.2398-28T>C|||||| 22 18362064 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+6580C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+6580C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|17/21|c.2397+48C>T|||||| 22 18362093 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+6551G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+6551G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|17/21|c.2397+19G>A|||||| 22 18362122 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|17/22|c.2387A>G|p.His796Arg|2461/7795|2387/3222|796/1073||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+6522A>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+6522A>G|||||| 22 18362128 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|17/22|c.2381G>A|p.Ser794Asn|2455/7795|2381/3222|794/1073||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+6516G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+6516G>A|||||| 22 18362142 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|17/22|c.2367C>T|p.Asn789Asn|2441/7795|2367/3222|789/1073||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+6502C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+6502C>T|||||| 22 18362200 . A C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+6444T>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+6444T>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|16/21|c.2341-32T>G|||||| 22 18363935 . C CA . . ANN=CA|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+4708_2241+4709insT||||||,CA|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+4708_2241+4709insT||||||,CA|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|16/21|c.2340+35_2340+36insT|||||| 22 18363980 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|16/22|c.2331C>T|p.Gly777Gly|2405/7795|2331/3222|777/1073||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+4664C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+4664C>T|||||| 22 18368614 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+30G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|15/21|c.2241+30G>A|||||| 22 18368615 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/31|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/19|c.2241+29C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|15/21|c.2241+29C>T|||||| 22 18368793 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/32|c.2092G>A|p.Gly698Arg|2445/9444|2092/6009|698/2002||,T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/20|c.2092G>A|p.Gly698Arg|2166/3090|2092/2901|698/966||,T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|15/22|c.2092G>A|p.Gly698Arg|2166/7795|2092/3222|698/1073|| 22 18368805 . G A . . ANN=A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|16/32|c.2080C>T|p.Arg694Trp|2433/9444|2080/6009|694/2002||,A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|15/20|c.2080C>T|p.Arg694Trp|2154/3090|2080/2901|694/966||,A|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|15/22|c.2080C>T|p.Arg694Trp|2154/7795|2080/3222|694/1073|| 22 18369892 . C T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|15/31|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|14/19|c.2067+44G>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|14/21|c.2067+44G>A|||||| 22 18369916 . A G . . ANN=G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|15/31|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|14/19|c.2067+20T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|14/21|c.2067+20T>C|||||| 22 18369986 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|15/32|c.2017A>G|p.Lys673Glu|2370/9444|2017/6009|673/2002||,C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|14/20|c.2017A>G|p.Lys673Glu|2091/3090|2017/2901|673/966||,C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|14/22|c.2017A>G|p.Lys673Glu|2091/7795|2017/3222|673/1073|| 22 18370066 . C A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|14/31|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|13/19|c.2004+23G>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|13/21|c.2004+23G>T|||||| 22 18370182 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|14/32|c.1911C>T|p.Ala637Ala|2264/9444|1911/6009|637/2002||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|13/20|c.1911C>T|p.Ala637Ala|1985/3090|1911/2901|637/966||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|13/22|c.1911C>T|p.Ala637Ala|1985/7795|1911/3222|637/1073|| 22 18371819 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|13/32|c.1872G>A|p.Lys624Lys|2225/9444|1872/6009|624/2002||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|12/20|c.1872G>A|p.Lys624Lys|1946/3090|1872/2901|624/966||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|12/22|c.1872G>A|p.Lys624Lys|1946/7795|1872/3222|624/1073|| 22 18371961 . T C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|13/32|c.1730A>G|p.Lys577Arg|2083/9444|1730/6009|577/2002||,C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|12/20|c.1730A>G|p.Lys577Arg|1804/3090|1730/2901|577/966||,C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|12/22|c.1730A>G|p.Lys577Arg|1804/7795|1730/3222|577/1073|| 22 18372020 . A G . . ANN=G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|12/31|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|11/19|c.1695-24T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|11/21|c.1695-24T>C|||||| 22 18374328 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|12/32|c.1617C>T|p.Asn539Asn|1970/9444|1617/6009|539/2002||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|11/20|c.1617C>T|p.Asn539Asn|1691/3090|1617/2901|539/966||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|11/22|c.1617C>T|p.Asn539Asn|1691/7795|1617/3222|539/1073|| 22 18376646 . C T . . ANN=T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|11/32|c.1474G>A|p.Glu492Lys|1827/9444|1474/6009|492/2002||,T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|10/20|c.1474G>A|p.Glu492Lys|1548/3090|1474/2901|492/966||,T|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|10/22|c.1474G>A|p.Glu492Lys|1548/7795|1474/3222|492/1073|| 22 18378002 . T C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|10/31|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|9/19|c.1449+48A>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|9/21|c.1449+48A>G|||||| 22 18378113 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|10/32|c.1386G>A|p.Gln462Gln|1739/9444|1386/6009|462/2002||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|9/20|c.1386G>A|p.Gln462Gln|1460/3090|1386/2901|462/966||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|9/22|c.1386G>A|p.Gln462Gln|1460/7795|1386/3222|462/1073|| 22 18378204 . A G . . ANN=G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|9/31|c.1323-28T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|8/19|c.1323-28T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|8/21|c.1323-28T>C|||||| 22 18379160 . T A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|8/31|c.1207-33A>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|7/19|c.1207-33A>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|7/21|c.1207-33A>T|||||| 22 18379453 . G C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|8/31|c.1206+37C>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|7/19|c.1206+37C>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|7/21|c.1206+37C>G|||||| 22 18379535 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|8/32|c.1161C>T|p.Asn387Asn|1514/9444|1161/6009|387/2002||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|7/20|c.1161C>T|p.Asn387Asn|1235/3090|1161/2901|387/966||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|7/22|c.1161C>T|p.Asn387Asn|1235/7795|1161/3222|387/1073|| 22 18379640 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|8/32|c.1056G>A|p.Pro352Pro|1409/9444|1056/6009|352/2002||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|7/20|c.1056G>A|p.Pro352Pro|1130/3090|1056/2901|352/966||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|7/22|c.1056G>A|p.Pro352Pro|1130/7795|1056/3222|352/1073|| 22 18379655 . G A . . ANN=A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|8/32|c.1041C>T|p.Thr347Thr|1394/9444|1041/6009|347/2002||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|7/20|c.1041C>T|p.Thr347Thr|1115/3090|1041/2901|347/966||,A|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|7/22|c.1041C>T|p.Thr347Thr|1115/7795|1041/3222|347/1073|| 22 18379670 . C T . . ANN=T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|8/32|c.1026G>A|p.Ala342Ala|1379/9444|1026/6009|342/2002||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|7/20|c.1026G>A|p.Ala342Ala|1100/3090|1026/2901|342/966||,T|synonymous_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|7/22|c.1026G>A|p.Ala342Ala|1100/7795|1026/3222|342/1073|| 22 18379796 . A G . . ANN=G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|7/31|c.949-49T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|6/19|c.949-49T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|6/21|c.949-49T>C|||||| 22 18382168 . T A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|7/31|c.948+46A>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|6/19|c.948+46A>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|6/21|c.948+46A>T|||||| 22 18382342 . G T . . ANN=T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|6/31|c.848-28C>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|5/19|c.848-28C>A||||||,T|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|5/21|c.848-28C>A|||||| 22 18384625 . G A . . ANN=A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|5/31|c.691+19C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|4/19|c.691+19C>T||||||,A|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|4/21|c.691+19C>T|||||| 22 18385387 . T C . . ANN=C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|4/31|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|3/19|c.589+10A>G||||||,C|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|3/21|c.589+10A>G|||||| 22 18387609 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|2/31|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|1/19|c.265-4T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|1/21|c.265-4T>G|||||| 22 18387612 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_015241.2|Coding|2/31|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|1/19|c.265-7T>G||||||,C|splice_region_variant&intron_variant|LOW|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|1/21|c.265-7T>G|||||| 22 18389268 . A G . . ANN=G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|2/31|c.264+47T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|1/19|c.264+47T>C||||||,G|intron_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|1/21|c.264+47T>C|||||| 22 18389316 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|2/32|c.263A>G|p.Lys88Arg|616/9444|263/6009|88/2002||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|1/20|c.263A>G|p.Lys88Arg|337/3090|263/2901|88/966||,C|missense_variant&splice_region_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|1/22|c.263A>G|p.Lys88Arg|337/7795|263/3222|88/1073|| 22 18389548 . G C . . ANN=C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_015241.2|Coding|2/32|c.31C>G|p.Pro11Ala|384/9444|31/6009|11/2002||,C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|1/20|c.31C>G|p.Pro11Ala|105/3090|31/2901|11/966||,C|missense_variant|MODERATE|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|1/22|c.31C>G|p.Pro11Ala|105/7795|31/3222|11/1073|| 22 18389616 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_015241.2|Coding|2/32|c.-38C>A|||||38|,T|5_prime_UTR_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001122731.2|Coding|1/20|c.-38C>A|||||38|,T|5_prime_UTR_variant|MODIFIER|MICAL3|MICAL3|transcript|NM_001136004.3|Coding|1/22|c.-38C>A|||||38| 22 18561175 . C T . . ANN=T|synonymous_variant|LOW|PEX26|PEX26|transcript|NM_001127649.2|Coding|1/5|c.33C>T|p.Pro11Pro|416/4257|33/918|11/305||,T|synonymous_variant|LOW|PEX26|PEX26|transcript|NM_001199319.1|Coding|2/5|c.33C>T|p.Pro11Pro|242/3936|33/771|11/256||,T|synonymous_variant|LOW|PEX26|PEX26|transcript|NM_017929.5|Coding|2/6|c.33C>T|p.Pro11Pro|242/4083|33/918|11/305|| 22 18561272 . C T . . ANN=T|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001127649.2|Coding|1/5|c.130C>T|p.Leu44Phe|513/4257|130/918|44/305||,T|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001199319.1|Coding|2/5|c.130C>T|p.Leu44Phe|339/3936|130/771|44/256||,T|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_017929.5|Coding|2/6|c.130C>T|p.Leu44Phe|339/4083|130/918|44/305|| 22 18562595 . T G . . ANN=G|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001127649.2|Coding|1/4|c.231-45T>G||||||,G|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|2/4|c.231-45T>G||||||,G|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_017929.5|Coding|2/5|c.231-45T>G|||||| 22 18562734 . T C . . ANN=C|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001127649.2|Coding|2/5|c.325T>C|p.Tyr109His|708/4257|325/918|109/305||,C|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001199319.1|Coding|3/5|c.325T>C|p.Tyr109His|534/3936|325/771|109/256||,C|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_017929.5|Coding|3/6|c.325T>C|p.Tyr109His|534/4083|325/918|109/305|| 22 18562801 . C G . . ANN=G|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001127649.2|Coding|2/4|c.371+21C>G||||||,G|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|3/4|c.371+21C>G||||||,G|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_017929.5|Coding|3/5|c.371+21C>G|||||| 22 18562822 . A C . . ANN=C|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001127649.2|Coding|2/4|c.371+42A>C||||||,C|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|3/4|c.371+42A>C||||||,C|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_017929.5|Coding|3/5|c.371+42A>C|||||| 22 18566181 . T C . . ANN=C|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001127649.2|Coding|2/4|c.372-22T>C||||||,C|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|3/4|c.372-22T>C||||||,C|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_017929.5|Coding|3/5|c.372-22T>C|||||| 22 18566240 . G C . . ANN=C|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001127649.2|Coding|3/5|c.409G>C|p.Val137Leu|792/4257|409/918|137/305||,C|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001199319.1|Coding|4/5|c.409G>C|p.Val137Leu|618/3936|409/771|137/256||,C|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_017929.5|Coding|4/6|c.409G>C|p.Val137Leu|618/4083|409/918|137/305|| 22 18566288 . C G . . ANN=G|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001127649.2|Coding|3/5|c.457C>G|p.Leu153Val|840/4257|457/918|153/305||,G|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001199319.1|Coding|4/5|c.457C>G|p.Leu153Val|666/3936|457/771|153/256||,G|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_017929.5|Coding|4/6|c.457C>G|p.Leu153Val|666/4083|457/918|153/305|| 22 18566332 . G A . . ANN=A|synonymous_variant|LOW|PEX26|PEX26|transcript|NM_001127649.2|Coding|3/5|c.501G>A|p.Val167Val|884/4257|501/918|167/305||,A|synonymous_variant|LOW|PEX26|PEX26|transcript|NM_001199319.1|Coding|4/5|c.501G>A|p.Val167Val|710/3936|501/771|167/256||,A|synonymous_variant|LOW|PEX26|PEX26|transcript|NM_017929.5|Coding|4/6|c.501G>A|p.Val167Val|710/4083|501/918|167/305|| 22 18567938 . C T . . ANN=T|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001127649.2|Coding|4/5|c.728C>T|p.Ala243Val|1111/4257|728/918|243/305||,T|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_017929.5|Coding|5/6|c.728C>T|p.Ala243Val|937/4083|728/918|243/305||,T|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|4/4|c.667+1440C>T|||||| 22 18570725 . C T . . ANN=T|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001127649.2|Coding|4/4|c.815-13C>T||||||,T|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|4/4|c.668-13C>T||||||,T|intron_variant|MODIFIER|PEX26|PEX26|transcript|NM_017929.5|Coding|5/5|c.815-13C>T|||||| 22 18570774 . C T . . ANN=T|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001127649.2|Coding|5/5|c.851C>T|p.Ala284Val|1234/4257|851/918|284/305||,T|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001199319.1|Coding|5/5|c.704C>T|p.Ala235Val|913/3936|704/771|235/256||,T|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_017929.5|Coding|6/6|c.851C>T|p.Ala284Val|1060/4083|851/918|284/305|| 22 18570834 . G A . . ANN=A|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001127649.2|Coding|5/5|c.911G>A|p.Arg304His|1294/4257|911/918|304/305||,A|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_001199319.1|Coding|5/5|c.764G>A|p.Arg255His|973/3936|764/771|255/256||,A|missense_variant|MODERATE|PEX26|PEX26|transcript|NM_017929.5|Coding|6/6|c.911G>A|p.Arg304His|1120/4083|911/918|304/305|| 22 18570842 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_001127649.2|Coding|5/5|c.*1G>A|||||1|,A|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|5/5|c.*1G>A|||||1|,A|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_017929.5|Coding|6/6|c.*1G>A|||||1| 22 18570851 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_001127649.2|Coding|5/5|c.*10C>T|||||10|,T|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|5/5|c.*10C>T|||||10|,T|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_017929.5|Coding|6/6|c.*10C>T|||||10| 22 18570877 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_001127649.2|Coding|5/5|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_001199319.1|Coding|5/5|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|PEX26|PEX26|transcript|NM_017929.5|Coding|6/6|c.*36G>A|||||36| 22 18593682 . G A . . ANN=A|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|1/4|c.3+48G>A||||||,A|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|1/4|c.-196+77G>A|||||| 22 18604207 . C A . . ANN=A|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|1/4|c.4-39C>A||||||,A|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|1/4|c.-195-39C>A|||||| 22 18604238 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|1/4|c.4-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|1/4|c.-195-8C>T|||||| 22 18604298 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|2/5|c.56C>T|p.Ala19Val|235/2124|56/1350|19/449||,T|5_prime_UTR_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|2/5|c.-143C>T|||||143| 22 18604404 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|2/5|c.162C>T|p.Ser54Ser|341/2124|162/1350|54/449||,T|5_prime_UTR_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|2/5|c.-37C>T|||||37| 22 18604513 . T C . . ANN=C|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|2/4|c.226+45T>C||||||,C|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|2/4|c.28+45T>C|||||| 22 18606946 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/5|c.250C>T|p.Arg84Cys|429/2124|250/1350|84/449||,T|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/5|c.52C>T|p.Arg18Cys|400/2095|52/1152|18/383|| 22 18606947 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/5|c.251G>A|p.Arg84His|430/2124|251/1350|84/449||,A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/5|c.53G>A|p.Arg18His|401/2095|53/1152|18/383|| 22 18606978 . A G . . ANN=G|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/5|c.282A>G|p.Thr94Thr|461/2124|282/1350|94/449||,G|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/5|c.84A>G|p.Thr28Thr|432/2095|84/1152|28/383|| 22 18607020 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/5|c.324C>T|p.Tyr108Tyr|503/2124|324/1350|108/449||,T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/5|c.126C>T|p.Tyr42Tyr|474/2095|126/1152|42/383|| 22 18607090 . GGGA G . . ANN=G|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/4|c.375+20_375+22delGGA||||||,G|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/4|c.177+20_177+22delGGA|||||| 22 18607094 . C T . . ANN=T|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/4|c.375+23C>T||||||,T|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/4|c.177+23C>T|||||| 22 18607120 . G T . . ANN=T|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/4|c.375+49G>T||||||,T|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/4|c.177+49G>T|||||| 22 18609080 . A G . . ANN=G|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/4|c.376-41A>G||||||,G|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/4|c.178-41A>G|||||| 22 18609087 . T C . . ANN=C|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|3/4|c.376-34T>C||||||,C|intron_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|3/4|c.178-34T>C|||||| 22 18609128 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.383C>T|p.Ala128Val|562/2124|383/1350|128/449||,T|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.185C>T|p.Ala62Val|533/2095|185/1152|62/383|| 22 18609290 . T C . . ANN=C|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.545T>C|p.Val182Ala|724/2124|545/1350|182/449||,C|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.347T>C|p.Val116Ala|695/2095|347/1152|116/383|| 22 18609411 . T A . . ANN=A|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.666T>A|p.Pro222Pro|845/2124|666/1350|222/449||,A|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.468T>A|p.Pro156Pro|816/2095|468/1152|156/383|| 22 18609481 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.736G>A|p.Gly246Arg|915/2124|736/1350|246/449||,A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.538G>A|p.Gly180Arg|886/2095|538/1152|180/383|| 22 18609493 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.748G>A|p.Val250Met|927/2124|748/1350|250/449||,A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.550G>A|p.Val184Met|898/2095|550/1152|184/383|| 22 18609549 . G A . . ANN=A|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.804G>A|p.Pro268Pro|983/2124|804/1350|268/449||,A|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.606G>A|p.Pro202Pro|954/2095|606/1152|202/383|| 22 18609561 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.816C>T|p.Tyr272Tyr|995/2124|816/1350|272/449||,T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.618C>T|p.Tyr206Tyr|966/2095|618/1152|206/383|| 22 18609564 . G A . . ANN=A|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.819G>A|p.Ala273Ala|998/2124|819/1350|273/449||,A|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.621G>A|p.Ala207Ala|969/2095|621/1152|207/383|| 22 18609579 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.834C>T|p.Ala278Ala|1013/2124|834/1350|278/449||,T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.636C>T|p.Ala212Ala|984/2095|636/1152|212/383|| 22 18609642 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.897C>T|p.Asn299Asn|1076/2124|897/1350|299/449||,T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.699C>T|p.Asn233Asn|1047/2095|699/1152|233/383|| 22 18609647 . A G . . ANN=G|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.902A>G|p.Gln301Arg|1081/2124|902/1350|301/449||,G|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.704A>G|p.Gln235Arg|1052/2095|704/1152|235/383|| 22 18609661 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.916G>A|p.Asp306Asn|1095/2124|916/1350|306/449||,A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.718G>A|p.Asp240Asn|1066/2095|718/1152|240/383|| 22 18609693 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.948C>T|p.Cys316Cys|1127/2124|948/1350|316/449||,T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.750C>T|p.Cys250Cys|1098/2095|750/1152|250/383|| 22 18609703 . C T . . ANN=T|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.958C>T|p.Arg320Trp|1137/2124|958/1350|320/449||,T|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.760C>T|p.Arg254Trp|1108/2095|760/1152|254/383|| 22 18609712 . G A . . ANN=A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/5|c.967G>A|p.Val323Met|1146/2124|967/1350|323/449||,A|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/5|c.769G>A|p.Val257Met|1117/2095|769/1152|257/383|| 22 18613603 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|4/4|c.1057-7C>T||||||,T|splice_region_variant&intron_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|4/4|c.859-7C>T|||||| 22 18613682 . A G . . ANN=G|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|5/5|c.1129A>G|p.Met377Val|1308/2124|1129/1350|377/449||,G|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|5/5|c.931A>G|p.Met311Val|1279/2095|931/1152|311/383|| 22 18613726 . C T . . ANN=T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_018943.2|Coding|5/5|c.1173C>T|p.Leu391Leu|1352/2124|1173/1350|391/449||,T|synonymous_variant|LOW|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|5/5|c.975C>T|p.Leu325Leu|1323/2095|975/1152|325/383|| 22 18613770 . A G . . ANN=G|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|5/5|c.1217A>G|p.His406Arg|1396/2124|1217/1350|406/449||,G|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|5/5|c.1019A>G|p.His340Arg|1367/2095|1019/1152|340/383|| 22 18613846 . T G . . ANN=G|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_018943.2|Coding|5/5|c.1293T>G|p.Asp431Glu|1472/2124|1293/1350|431/449||,G|missense_variant|MODERATE|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|5/5|c.1095T>G|p.Asp365Glu|1443/2095|1095/1152|365/383|| 22 18613916 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|5/5|c.*13C>T|||||13|,T|3_prime_UTR_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|5/5|c.*13C>T|||||13| 22 18613921 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_018943.2|Coding|5/5|c.*18G>A|||||18|,A|3_prime_UTR_variant|MODIFIER|TUBA8|TUBA8|transcript|NM_001193414.1|Coding|5/5|c.*18G>A|||||18| 22 18640397 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|USP18|USP18|transcript|NM_017414.3|Coding|2/11|c.-34C>G|||||34| 22 18640527 . G A . . ANN=A|missense_variant|MODERATE|USP18|USP18|transcript|NM_017414.3|Coding|2/11|c.97G>A|p.Asp33Asn|435/2035|97/1119|33/372|| 22 18640597 . C A . . ANN=A|intron_variant|MODIFIER|USP18|USP18|transcript|NM_017414.3|Coding|2/10|c.157+10C>A|||||| 22 18642898 . C T . . ANN=T|intron_variant|MODIFIER|USP18|USP18|transcript|NM_017414.3|Coding|2/10|c.158-41C>T|||||| 22 18642909 . C A . . ANN=A|intron_variant|MODIFIER|USP18|USP18|transcript|NM_017414.3|Coding|2/10|c.158-30C>A|||||| 22 18642934 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|USP18|USP18|transcript|NM_017414.3|Coding|2/10|c.158-5T>G|||||| 22 18643059 . G A . . ANN=A|intron_variant|MODIFIER|USP18|USP18|transcript|NM_017414.3|Coding|3/10|c.254+24G>A|||||| 22 18893846 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|1/5|c.-42G>A|||||42| 22 18893902 . G C . . ANN=C|synonymous_variant|LOW|DGCR6|DGCR6|transcript|NM_005675.4|Coding|1/5|c.15G>C|p.Ala5Ala|167/1214|15/663|5/220|| 22 18893995 . C G . . ANN=G|splice_region_variant&synonymous_variant|LOW|DGCR6|DGCR6|transcript|NM_005675.4|Coding|1/5|c.108C>G|p.Pro36Pro|260/1214|108/663|36/220|| 22 18894001 . CGCGGGCGGG C . . ANN=C|splice_region_variant&intron_variant|LOW|DGCR6|DGCR6|transcript|NM_005675.4|Coding|1/4|c.110+5_110+13delGCGGGCGGG|||||| 22 18894009 . G GC . . ANN=GC|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|1/4|c.110+12_110+13insC|||||| 22 18894042 . T C . . ANN=C|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|1/4|c.111-36T>C|||||| 22 18894058 . C G . . ANN=G|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|1/4|c.111-20C>G|||||| 22 18894209 . A AGCGCCT . . ANN=GCGCCT|disruptive_inframe_insertion|MODERATE|DGCR6|DGCR6|transcript|NM_005675.4|Coding|2/5|c.249_254dupGCGCCT|p.Arg84_Leu85dup|407/1214|255/663|85/220||INFO_REALIGN_3_PRIME 22 18897756 . C A,G . . ANN=A|missense_variant|MODERATE|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/5|c.343C>A|p.Leu115Ile|495/1214|343/663|115/220||,G|missense_variant|MODERATE|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/5|c.343C>G|p.Leu115Val|495/1214|343/663|115/220|| 22 18897763 . C T . . ANN=T|missense_variant|MODERATE|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/5|c.350C>T|p.Ala117Val|502/1214|350/663|117/220|| 22 18897796 . C T . . ANN=T|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/4|c.372+11C>T|||||| 22 18897812 . G A . . ANN=A|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/4|c.372+27G>A|||||| 22 18898351 . ATG A . . ANN=A|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/4|c.373-49_373-48delTG|||||| 22 18898378 . C T . . ANN=T|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/4|c.373-23C>T|||||| 22 18898387 . C T . . ANN=T|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/4|c.373-14C>T|||||| 22 18898395 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|DGCR6|DGCR6|transcript|NM_005675.4|Coding|3/4|c.373-6C>T|||||| 22 18898415 . G A . . ANN=A|synonymous_variant|LOW|DGCR6|DGCR6|transcript|NM_005675.4|Coding|4/5|c.387G>A|p.Arg129Arg|539/1214|387/663|129/220|| 22 18898421 . T G . . ANN=G|synonymous_variant|LOW|DGCR6|DGCR6|transcript|NM_005675.4|Coding|4/5|c.393T>G|p.Arg131Arg|545/1214|393/663|131/220|| 22 18898436 . G A . . ANN=A|synonymous_variant|LOW|DGCR6|DGCR6|transcript|NM_005675.4|Coding|4/5|c.408G>A|p.Ala136Ala|560/1214|408/663|136/220|| 22 18898443 . CAGA C . . ANN=|disruptive_inframe_deletion|MODERATE|DGCR6|DGCR6|transcript|NM_005675.4|Coding|4/5|c.419_421delAGA|p.Lys140del|571/1214|419/663|140/220||INFO_REALIGN_3_PRIME 22 18898555 . C T . . ANN=T|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|4/4|c.513+14C>T|||||| 22 18898572 . C T . . ANN=T|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|4/4|c.513+31C>T|||||| 22 18898582 . T G . . ANN=G|intron_variant|MODIFIER|DGCR6|DGCR6|transcript|NM_005675.4|Coding|4/4|c.513+41T>G|||||| 22 18900645 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|15/15|c.*43G>A|||||43|,T|3_prime_UTR_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|14/14|c.*43G>A|||||43| 22 18900669 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|15/15|c.*19T>C|||||19|,G|3_prime_UTR_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|14/14|c.*19T>C|||||19| 22 18900683 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|15/15|c.*5C>T|||||5|,A|3_prime_UTR_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|14/14|c.*5C>T|||||5| 22 18900730 . C T . . ANN=T|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|15/15|c.1761G>A|p.Leu587Leu|1965/2408|1761/1803|587/600||,T|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|14/14|c.1437G>A|p.Leu479Leu|1550/1993|1437/1479|479/492|| 22 18900750 . G A . . ANN=A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|15/15|c.1741C>T|p.Leu581Leu|1945/2408|1741/1803|581/600||,A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|14/14|c.1417C>T|p.Leu473Leu|1530/1993|1417/1479|473/492|| 22 18900868 . G A,C,T . . ANN=A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|15/15|c.1623C>T|p.Ala541Ala|1827/2408|1623/1803|541/600||,C|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|15/15|c.1623C>G|p.Ala541Ala|1827/2408|1623/1803|541/600||,T|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|15/15|c.1623C>A|p.Ala541Ala|1827/2408|1623/1803|541/600||,A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|14/14|c.1299C>T|p.Ala433Ala|1412/1993|1299/1479|433/492||,C|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|14/14|c.1299C>G|p.Ala433Ala|1412/1993|1299/1479|433/492||,T|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|14/14|c.1299C>A|p.Ala433Ala|1412/1993|1299/1479|433/492|| 22 18901004 . C T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|14/15|c.1562G>A|p.Arg521Gln|1766/2408|1562/1803|521/600||,T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|13/14|c.1238G>A|p.Arg413Gln|1351/1993|1238/1479|413/492|| 22 18901006 . G A . . ANN=A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|14/15|c.1560C>T|p.His520His|1764/2408|1560/1803|520/600||,A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|13/14|c.1236C>T|p.His412His|1349/1993|1236/1479|412/492|| 22 18904489 . G A . . ANN=A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|13/15|c.1440C>T|p.Tyr480Tyr|1644/2408|1440/1803|480/600||,A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|12/14|c.1116C>T|p.Tyr372Tyr|1229/1993|1116/1479|372/492|| 22 18905882 . G T . . ANN=T|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|12/15|c.1374C>A|p.Gly458Gly|1578/2408|1374/1803|458/600||,T|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|11/14|c.1050C>A|p.Gly350Gly|1163/1993|1050/1479|350/492|| 22 18905978 . G A . . ANN=A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|12/15|c.1278C>T|p.Asp426Asp|1482/2408|1278/1803|426/600||,A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|11/14|c.954C>T|p.Asp318Asp|1067/1993|954/1479|318/492|| 22 18907124 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|10/14|c.1105-14C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|9/13|c.781-14C>T|||||| 22 18907156 . G C . . ANN=C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|10/14|c.1105-46C>G||||||,C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|9/13|c.781-46C>G|||||| 22 18907160 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|10/14|c.1105-50C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|9/13|c.781-50C>T|||||| 22 18907192 . A C . . ANN=C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|10/14|c.1104+27T>G||||||,C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|9/13|c.780+27T>G|||||| 22 18907207 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|10/14|c.1104+12C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|9/13|c.780+12C>T|||||| 22 18907349 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|9/14|c.1012-38C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|8/13|c.688-38C>T|||||| 22 18907359 . C T . . ANN=T|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|9/14|c.1012-48G>A||||||,T|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|8/13|c.688-48G>A|||||| 22 18908809 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|9/14|c.1011+46C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|8/13|c.687+46C>T|||||| 22 18908875 . A G . . ANN=G|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|9/15|c.991T>C|p.Leu331Leu|1195/2408|991/1803|331/600||,G|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|8/14|c.667T>C|p.Leu223Leu|780/1993|667/1479|223/492|| 22 18908951 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|8/14|c.930-15C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|7/13|c.606-15C>T|||||| 22 18908958 . C G . . ANN=G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|8/14|c.930-22G>C||||||,G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|7/13|c.606-22G>C|||||| 22 18910283 . CA C . . ANN=C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|7/14|c.849+46delT||||||,C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|6/13|c.525+46delT|||||| 22 18910284 . AC A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|7/14|c.849+45delG||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|6/13|c.525+45delG|||||| 22 18910301 . A G . . ANN=G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|7/14|c.849+29T>C||||||,G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|6/13|c.525+29T>C|||||| 22 18910355 . G T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|7/15|c.824C>A|p.Thr275Asn|1028/2408|824/1803|275/600||,T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|6/14|c.500C>A|p.Thr167Asn|613/1993|500/1479|167/492|| 22 18910357 . G A . . ANN=A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|7/15|c.822C>T|p.Asp274Asp|1026/2408|822/1803|274/600||,A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|6/14|c.498C>T|p.Asp166Asp|611/1993|498/1479|166/492|| 22 18910450 . CA C . . ANN=C|splice_region_variant&intron_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|6/14|c.733-5delT||||||,C|splice_region_variant&intron_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|5/13|c.409-5delT|||||| 22 18910479 . C T . . ANN=T|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|6/14|c.733-33G>A||||||,T|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|5/13|c.409-33G>A|||||| 22 18912518 . A C . . ANN=C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|5/14|c.667+46T>G||||||,C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/13|c.343+46T>G|||||| 22 18912531 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|5/14|c.667+33C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/13|c.343+33C>T|||||| 22 18912581 . C T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.650G>A|p.Arg217His|854/2408|650/1803|217/600||,T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.326G>A|p.Arg109His|439/1993|326/1479|109/492|| 22 18912606 . C T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.625G>A|p.Asp209Asn|829/2408|625/1803|209/600||,T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.301G>A|p.Asp101Asn|414/1993|301/1479|101/492|| 22 18912612 . T G . . ANN=G|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.619A>C|p.Lys207Gln|823/2408|619/1803|207/600||,G|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.295A>C|p.Lys99Gln|408/1993|295/1479|99/492|| 22 18912620 . T C . . ANN=C|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.611A>G|p.Asn204Ser|815/2408|611/1803|204/600||,C|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.287A>G|p.Asn96Ser|400/1993|287/1479|96/492|| 22 18912625 . G A . . ANN=A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.606C>T|p.Tyr202Tyr|810/2408|606/1803|202/600||,A|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.282C>T|p.Tyr94Tyr|395/1993|282/1479|94/492|| 22 18912653 . C T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.578G>A|p.Gly193Asp|782/2408|578/1803|193/600||,T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.254G>A|p.Gly85Asp|367/1993|254/1479|85/492|| 22 18912662 . C T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.569G>A|p.Arg190His|773/2408|569/1803|190/600||,T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.245G>A|p.Arg82His|358/1993|245/1479|82/492|| 22 18912677 . C T . . ANN=T|stop_gained|HIGH|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.554G>A|p.Trp185*|758/2408|554/1803|185/600||,T|stop_gained|HIGH|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.230G>A|p.Trp77*|343/1993|230/1479|77/492||;LOF=(PRODH|PRODH|2|1.00);NMD=(PRODH|PRODH|2|1.00) 22 18912678 . A G . . ANN=G|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|5/15|c.553T>C|p.Trp185Arg|757/2408|553/1803|185/600||,G|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|4/14|c.229T>C|p.Trp77Arg|342/1993|229/1479|77/492|| 22 18912761 . C G . . ANN=G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|4/14|c.518-48G>C||||||,G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|3/13|c.194-48G>C|||||| 22 18913156 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|4/14|c.517+45C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|3/13|c.193+45C>T|||||| 22 18913208 . A T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|4/15|c.510T>A|p.Asp170Glu|714/2408|510/1803|170/600||,T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|3/14|c.186T>A|p.Asp62Glu|299/1993|186/1479|62/492|| 22 18913245 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|3/14|c.483-10C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|2/13|c.159-10C>T|||||| 22 18913273 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|3/14|c.483-38C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|2/13|c.159-38C>T|||||| 22 18913277 . C G . . ANN=G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|3/14|c.483-42G>C||||||,G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|2/13|c.159-42G>C|||||| 22 18918464 . T G . . ANN=G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|3/14|c.482+39A>C||||||,G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|2/13|c.158+39A>C|||||| 22 18918593 . C T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|3/15|c.392G>A|p.Arg131Gln|596/2408|392/1803|131/600||,T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_001195226.1|Coding|2/14|c.68G>A|p.Arg23Gln|181/1993|68/1479|23/492|| 22 18918666 . T C . . ANN=C|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|3/15|c.319A>G|p.Lys107Glu|523/2408|319/1803|107/600||,C|5_prime_UTR_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|2/14|c.-6A>G|||||6| 22 18918732 . G A . . ANN=A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|2/14|c.274-21C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|1/13|c.-51-21C>T|||||| 22 18918760 . T C . . ANN=C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_016335.4|Coding|2/14|c.274-49A>G||||||,C|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|1/13|c.-51-49A>G|||||| 22 18923524 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|2/14|c.273+4C>T||||||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|1/13|c.-52+379C>T|||||| 22 18923585 . C G . . ANN=G|synonymous_variant|LOW|PRODH|PRODH|transcript|NM_016335.4|Coding|2/15|c.216G>C|p.Arg72Arg|420/2408|216/1803|72/600||,G|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|1/13|c.-52+318G>C|||||| 22 18923629 . C T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|2/15|c.172G>A|p.Ala58Thr|376/2408|172/1803|58/600||,T|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|1/13|c.-52+274G>A|||||| 22 18923713 . G A . . ANN=A|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|2/15|c.88C>T|p.Pro30Ser|292/2408|88/1803|30/600||,A|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|1/13|c.-52+190C>T|||||| 22 18923745 . G T . . ANN=T|missense_variant|MODERATE|PRODH|PRODH|transcript|NM_016335.4|Coding|2/15|c.56C>A|p.Pro19Gln|260/2408|56/1803|19/600||,T|intron_variant|MODIFIER|PRODH|PRODH|transcript|NM_001195226.1|Coding|1/13|c.-52+158C>A|||||| 22 19026331 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.*47A>G|||||47|,C|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.*47A>G|||||47|,C|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.*47A>G|||||47|,C|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.*47A>G|||||47|,C|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1833A>G|||||| 22 19026332 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.*46T>C|||||46|,G|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.*46T>C|||||46|,G|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.*46T>C|||||46|,G|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.*46T>C|||||46|,G|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1832T>C|||||| 22 19026337 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.*41T>C|||||41|,G|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.*41T>C|||||41|,G|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.*41T>C|||||41|,G|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.*41T>C|||||41|,G|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1827T>C|||||| 22 19026356 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.*22C>T|||||22|,A|3_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.*22C>T|||||22|,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1808C>T|||||| 22 19026413 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.1618C>T|p.Arg540Cys|1866/4484|1618/1653|540/550||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.1495C>T|p.Arg499Cys|1743/4361|1495/1530|499/509||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.1486C>T|p.Arg496Cys|1734/4352|1486/1521|496/506||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.1609C>T|p.Arg537Cys|1857/4475|1609/1644|537/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1751C>T|||||| 22 19026480 . C G . . ANN=G|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.1551G>C|p.Leu517Leu|1799/4484|1551/1653|517/550||,G|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.1428G>C|p.Leu476Leu|1676/4361|1428/1530|476/509||,G|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.1419G>C|p.Leu473Leu|1667/4352|1419/1521|473/506||,G|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.1542G>C|p.Leu514Leu|1790/4475|1542/1644|514/547||,G|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1684G>C|||||| 22 19026500 . CAG C . . ANN=C|frameshift_variant|HIGH|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.1529_1530delCT|p.Ser510fs|1778/4484|1529/1653|510/550||,C|frameshift_variant|HIGH|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.1406_1407delCT|p.Ser469fs|1655/4361|1406/1530|469/509||,C|frameshift_variant|HIGH|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.1397_1398delCT|p.Ser466fs|1646/4352|1397/1521|466/506||,C|frameshift_variant|HIGH|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.1520_1521delCT|p.Ser507fs|1769/4475|1520/1644|507/547||,C|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1662_1663delCT||||||;LOF=(DGCR2|DGCR2|5|0.80) 22 19026531 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.1500G>A|p.Ala500Ala|1748/4484|1500/1653|500/550||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.1377G>A|p.Ala459Ala|1625/4361|1377/1530|459/509||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.1368G>A|p.Ala456Ala|1616/4352|1368/1521|456/506||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.1491G>A|p.Ala497Ala|1739/4475|1491/1644|497/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1633G>A|||||| 22 19026556 . C T . . ANN=T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.1475G>A|p.Arg492His|1723/4484|1475/1653|492/550||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.1352G>A|p.Arg451His|1600/4361|1352/1530|451/509||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.1343G>A|p.Arg448His|1591/4352|1343/1521|448/506||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.1466G>A|p.Arg489His|1714/4475|1466/1644|489/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1608G>A|||||| 22 19026559 . C G . . ANN=G|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.1472G>C|p.Arg491Pro|1720/4484|1472/1653|491/550||,G|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.1349G>C|p.Arg450Pro|1597/4361|1349/1530|450/509||,G|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.1340G>C|p.Arg447Pro|1588/4352|1340/1521|447/506||,G|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.1463G>C|p.Arg488Pro|1711/4475|1463/1644|488/547||,G|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1605G>C|||||| 22 19026613 . A G . . ANN=G|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|10/10|c.1418T>C|p.Val473Ala|1666/4484|1418/1653|473/550||,G|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|9/9|c.1295T>C|p.Val432Ala|1543/4361|1295/1530|432/509||,G|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|9/9|c.1286T>C|p.Val429Ala|1534/4352|1286/1521|429/506||,G|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|10/10|c.1409T>C|p.Val470Ala|1657/4475|1409/1644|470/547||,G|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|9/9|n.1551T>C|||||| 22 19026664 . G T . . ANN=T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/9|c.1397-30C>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/8|c.1274-30C>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/8|c.1265-30C>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/9|c.1388-30C>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/8|n.1530-30C>A|||||| 22 19028521 . C T . . ANN=T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/9|c.1396+50G>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/8|c.1273+50G>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/8|c.1264+50G>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/9|c.1387+50G>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/8|n.1529+50G>A|||||| 22 19028554 . C G . . ANN=G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/9|c.1396+17G>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/8|c.1273+17G>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/8|c.1264+17G>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/9|c.1387+17G>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/8|n.1529+17G>C|||||| 22 19028567 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/9|c.1396+4C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/8|c.1273+4C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/8|c.1264+4C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/9|c.1387+4C>T||||||,A|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/8|n.1529+4C>T|||||| 22 19028643 . C T . . ANN=T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/10|c.1324G>A|p.Gly442Ser|1572/4484|1324/1653|442/550||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/9|c.1201G>A|p.Gly401Ser|1449/4361|1201/1530|401/509||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/9|c.1192G>A|p.Gly398Ser|1440/4352|1192/1521|398/506||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/10|c.1315G>A|p.Gly439Ser|1563/4475|1315/1644|439/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/9|n.1457G>A|||||| 22 19028650 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/10|c.1317G>A|p.Pro439Pro|1565/4484|1317/1653|439/550||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/9|c.1194G>A|p.Pro398Pro|1442/4361|1194/1530|398/509||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/9|c.1185G>A|p.Pro395Pro|1433/4352|1185/1521|395/506||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/10|c.1308G>A|p.Pro436Pro|1556/4475|1308/1644|436/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/9|n.1450G>A|||||| 22 19028665 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/10|c.1302G>A|p.Thr434Thr|1550/4484|1302/1653|434/550||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/9|c.1179G>A|p.Thr393Thr|1427/4361|1179/1530|393/509||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/9|c.1170G>A|p.Thr390Thr|1418/4352|1170/1521|390/506||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/10|c.1293G>A|p.Thr431Thr|1541/4475|1293/1644|431/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/9|n.1435G>A|||||| 22 19028694 . G C . . ANN=C|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/10|c.1273C>G|p.His425Asp|1521/4484|1273/1653|425/550||,C|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/9|c.1150C>G|p.His384Asp|1398/4361|1150/1530|384/509||,C|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/9|c.1141C>G|p.His381Asp|1389/4352|1141/1521|381/506||,C|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/10|c.1264C>G|p.His422Asp|1512/4475|1264/1644|422/547||,C|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/9|n.1406C>G|||||| 22 19028782 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|9/10|c.1185G>A|p.Arg395Arg|1433/4484|1185/1653|395/550||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|8/9|c.1062G>A|p.Arg354Arg|1310/4361|1062/1530|354/509||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|8/9|c.1053G>A|p.Arg351Arg|1301/4352|1053/1521|351/506||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|9/10|c.1176G>A|p.Arg392Arg|1424/4475|1176/1644|392/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|8/9|n.1318G>A|||||| 22 19028816 . T C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|8/9|c.1160-9A>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|7/8|c.1037-9A>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|7/8|c.1028-9A>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|8/9|c.1151-9A>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|7/8|n.1293-9A>G|||||| 22 19028818 . A G . . ANN=G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|8/9|c.1160-11T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|7/8|c.1037-11T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|7/8|c.1028-11T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|8/9|c.1151-11T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|7/8|n.1293-11T>C|||||| 22 19029286 . G C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|8/9|c.1159+34C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|7/8|c.1036+34C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|7/8|c.1027+34C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|8/9|c.1150+34C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|7/8|n.1292+34C>G|||||| 22 19029311 . G A . . ANN=A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|8/9|c.1159+9C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|7/8|c.1036+9C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|7/8|c.1027+9C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|8/9|c.1150+9C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|7/8|n.1292+9C>T|||||| 22 19029353 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|8/10|c.1126C>T|p.Arg376Trp|1374/4484|1126/1653|376/550||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|7/9|c.1003C>T|p.Arg335Trp|1251/4361|1003/1530|335/509||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|7/9|c.994C>T|p.Arg332Trp|1242/4352|994/1521|332/506||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|8/10|c.1117C>T|p.Arg373Trp|1365/4475|1117/1644|373/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|7/9|n.1259C>T|||||| 22 19029359 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|8/10|c.1120C>T|p.Arg374Trp|1368/4484|1120/1653|374/550||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|7/9|c.997C>T|p.Arg333Trp|1245/4361|997/1530|333/509||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|7/9|c.988C>T|p.Arg330Trp|1236/4352|988/1521|330/506||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|8/10|c.1111C>T|p.Arg371Trp|1359/4475|1111/1644|371/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|7/9|n.1253C>T|||||| 22 19029365 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|8/10|c.1114C>T|p.Arg372Cys|1362/4484|1114/1653|372/550||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|7/9|c.991C>T|p.Arg331Cys|1239/4361|991/1530|331/509||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|7/9|c.982C>T|p.Arg328Cys|1230/4352|982/1521|328/506||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|8/10|c.1105C>T|p.Arg369Cys|1353/4475|1105/1644|369/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|7/9|n.1247C>T|||||| 22 19029498 . G C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|7/9|c.1007-26C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|6/8|c.884-26C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|6/8|c.875-26C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|7/9|c.998-26C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|6/8|n.1140-26C>G|||||| 22 19036154 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|7/10|c.805C>G|p.Gln269Glu|1053/4484|805/1653|269/550||,C|missense_variant&splice_region_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|6/9|c.682C>G|p.Gln228Glu|930/4361|682/1530|228/509||,C|missense_variant&splice_region_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|6/9|c.673C>G|p.Gln225Glu|921/4352|673/1521|225/506||,C|missense_variant&splice_region_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|7/10|c.796C>G|p.Gln266Glu|1044/4475|796/1644|266/547||,C|splice_region_variant&non_coding_exon_variant|LOW|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|6/9|n.938C>G|||||| 22 19036161 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|6/9|c.803-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|5/8|c.680-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|5/8|c.671-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|6/9|c.794-5T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|5/8|n.936-5T>C|||||| 22 19036172 . A G . . ANN=G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|6/9|c.803-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|5/8|c.680-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|5/8|c.671-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|6/9|c.794-16T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|5/8|n.936-16T>C|||||| 22 19044623 . A C . . ANN=C|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|6/10|c.678T>G|p.Ser226Ser|926/4484|678/1653|226/550||,C|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|5/9|c.555T>G|p.Ser185Ser|803/4361|555/1530|185/509||,C|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|5/9|c.546T>G|p.Ser182Ser|794/4352|546/1521|182/506||,C|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|6/10|c.669T>G|p.Ser223Ser|917/4475|669/1644|223/547||,C|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|5/9|n.811T>G|||||| 22 19044632 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|6/10|c.669G>A|p.Ser223Ser|917/4484|669/1653|223/550||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|5/9|c.546G>A|p.Ser182Ser|794/4361|546/1530|182/509||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|5/9|c.537G>A|p.Ser179Ser|785/4352|537/1521|179/506||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|6/10|c.660G>A|p.Ser220Ser|908/4475|660/1644|220/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|5/9|n.802G>A|||||| 22 19044688 . C A . . ANN=A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|5/9|c.626-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|4/8|c.503-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|4/8|c.494-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|5/9|c.617-13G>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|4/8|n.759-13G>T|||||| 22 19050698 . A C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|5/9|c.625+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|4/8|c.502+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|4/8|c.493+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|5/9|c.616+17T>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|4/8|n.758+17T>G|||||| 22 19050704 . G C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|5/9|c.625+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|4/8|c.502+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|4/8|c.493+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|5/9|c.616+11C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|4/8|n.758+11C>G|||||| 22 19050750 . C T . . ANN=T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|5/10|c.590G>A|p.Arg197His|838/4484|590/1653|197/550||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|4/9|c.467G>A|p.Arg156His|715/4361|467/1530|156/509||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|4/9|c.458G>A|p.Arg153His|706/4352|458/1521|153/506||,T|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|5/10|c.581G>A|p.Arg194His|829/4475|581/1644|194/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|4/9|n.723G>A|||||| 22 19050799 . GCACAGAGA G . . ANN=G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|4/9|c.549-16_549-9delTCTCTGTG||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|3/8|c.426-16_426-9delTCTCTGTG||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|3/8|c.417-16_417-9delTCTCTGTG||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|4/9|c.540-16_540-9delTCTCTGTG||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/8|n.682-16_682-9delTCTCTGTG|||||| 22 19050800 . CACAGAG C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|4/9|c.549-15_549-10delCTCTGT||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|3/8|c.426-15_426-10delCTCTGT||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|3/8|c.417-15_417-10delCTCTGT||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|4/9|c.540-15_540-10delCTCTGT||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/8|n.682-15_682-10delCTCTGT|||||| 22 19050827 . G A . . ANN=A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|4/9|c.549-36C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|3/8|c.426-36C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|3/8|c.417-36C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|4/9|c.540-36C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/8|n.682-36C>T|||||| 22 19050831 . G A . . ANN=A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|4/9|c.549-40C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|3/8|c.426-40C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|3/8|c.417-40C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|4/9|c.540-40C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/8|n.682-40C>T|||||| 22 19052348 . A G . . ANN=G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|4/9|c.548+13T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|3/8|c.425+13T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|3/8|c.416+13T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|4/9|c.539+13T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/8|n.681+13T>C|||||| 22 19052424 . C A . . ANN=A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|4/10|c.485G>T|p.Arg162Leu|733/4484|485/1653|162/550||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|3/9|c.362G>T|p.Arg121Leu|610/4361|362/1530|121/509||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|3/9|c.353G>T|p.Arg118Leu|601/4352|353/1521|118/506||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|4/10|c.476G>T|p.Arg159Leu|724/4475|476/1644|159/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/9|n.618G>T|||||| 22 19052486 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|4/10|c.423C>T|p.Ala141Ala|671/4484|423/1653|141/550||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|3/9|c.300C>T|p.Ala100Ala|548/4361|300/1530|100/509||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|3/9|c.291C>T|p.Ala97Ala|539/4352|291/1521|97/506||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|4/10|c.414C>T|p.Ala138Ala|662/4475|414/1644|138/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/9|n.556C>T|||||| 22 19052507 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|4/10|c.402C>T|p.Ser134Ser|650/4484|402/1653|134/550||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|3/9|c.279C>T|p.Ser93Ser|527/4361|279/1530|93/509||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|3/9|c.270C>T|p.Ser90Ser|518/4352|270/1521|90/506||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|4/10|c.393C>T|p.Ser131Ser|641/4475|393/1644|131/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/9|n.535C>T|||||| 22 19052583 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/9|c.329-3T>C||||||,G|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/8|c.206-3T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/8|c.206-12T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/9|c.329-12T>C||||||,G|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|3/9|n.459T>C|||||| 22 19052591 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|2/8|n.454-3C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/9|c.329-11C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/8|c.206-11C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/8|c.206-20C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/9|c.329-20C>G|||||| 22 19052622 . G C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/9|c.329-42C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/8|c.206-42C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/8|c.206-51C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/9|c.329-51C>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|2/8|n.454-34C>G|||||| 22 19055595 . G A . . ANN=A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/9|c.328+18C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/8|c.205+18C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/8|c.205+18C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/9|c.328+18C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|2/8|n.453+18C>T|||||| 22 19055622 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/10|c.319C>T|p.Arg107Cys|567/4484|319/1653|107/550||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/9|c.196C>T|p.Arg66Cys|444/4361|196/1530|66/509||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/9|c.196C>T|p.Arg66Cys|444/4352|196/1521|66/506||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/10|c.319C>T|p.Arg107Cys|567/4475|319/1644|107/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|2/9|n.444C>T|||||| 22 19055647 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/10|c.294C>T|p.His98His|542/4484|294/1653|98/550||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/9|c.171C>T|p.His57His|419/4361|171/1530|57/509||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/9|c.171C>T|p.His57His|419/4352|171/1521|57/506||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/10|c.294C>T|p.His98His|542/4475|294/1644|98/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|2/9|n.419C>T|||||| 22 19055656 . C T . . ANN=T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/10|c.285G>A|p.Ser95Ser|533/4484|285/1653|95/550||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/9|c.162G>A|p.Ser54Ser|410/4361|162/1530|54/509||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/9|c.162G>A|p.Ser54Ser|410/4352|162/1521|54/506||,T|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/10|c.285G>A|p.Ser95Ser|533/4475|285/1644|95/547||,T|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|2/9|n.410G>A|||||| 22 19055679 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/10|c.262C>T|p.Arg88Trp|510/4484|262/1653|88/550||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/9|c.139C>T|p.Arg47Trp|387/4361|139/1530|47/509||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/9|c.139C>T|p.Arg47Trp|387/4352|139/1521|47/506||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/10|c.262C>T|p.Arg88Trp|510/4475|262/1644|88/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|2/9|n.387C>T|||||| 22 19055688 . G A . . ANN=A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_005137.2|Coding|3/10|c.253C>T|p.Arg85Trp|501/4484|253/1653|85/550||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|2/9|c.130C>T|p.Arg44Trp|378/4361|130/1530|44/509||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|2/9|c.130C>T|p.Arg44Trp|378/4352|130/1521|44/506||,A|missense_variant|MODERATE|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|3/10|c.253C>T|p.Arg85Trp|501/4475|253/1644|85/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|2/9|n.378C>T|||||| 22 19076835 . A G . . ANN=G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|2/9|c.202+46T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/8|c.80-21097T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/8|c.80-21097T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|2/9|c.202+46T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/8|n.328-21097T>C|||||| 22 19076866 . A G . . ANN=G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|2/9|c.202+15T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/8|c.80-21128T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/8|c.80-21128T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|2/9|c.202+15T>C||||||,G|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/8|n.328-21128T>C|||||| 22 19076900 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|2/10|c.183C>T|p.Ser61Ser|431/4484|183/1653|61/550||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|2/10|c.183C>T|p.Ser61Ser|431/4475|183/1644|61/547||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/8|c.80-21162C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/8|c.80-21162C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/8|n.328-21162C>T|||||| 22 19077030 . T C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/9|c.80-27A>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/8|c.80-21292A>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/8|c.80-21292A>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/9|c.80-27A>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/8|n.328-21292A>G|||||| 22 19077038 . G A . . ANN=A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/9|c.80-35C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/8|c.80-21300C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/8|c.80-21300C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/9|c.80-35C>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/8|n.328-21300C>T|||||| 22 19077049 . C T . . ANN=T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/9|c.80-46G>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/8|c.80-21311G>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/8|c.80-21311G>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/9|c.80-46G>A||||||,T|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/8|n.328-21311G>A|||||| 22 19109597 . C A . . ANN=A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/9|c.79+44G>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/8|c.79+44G>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/8|c.79+44G>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/9|c.79+44G>T||||||,A|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/8|n.327+44G>T|||||| 22 19109609 . A C . . ANN=C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/9|c.79+32T>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/8|c.79+32T>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/8|c.79+32T>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/9|c.79+32T>G||||||,C|intron_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/8|n.327+32T>G|||||| 22 19109689 . G A . . ANN=A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/10|c.31C>T|p.Leu11Leu|279/4484|31/1653|11/550||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/9|c.31C>T|p.Leu11Leu|279/4361|31/1530|11/509||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/9|c.31C>T|p.Leu11Leu|279/4352|31/1521|11/506||,A|synonymous_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/10|c.31C>T|p.Leu11Leu|279/4475|31/1644|11/547||,A|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/9|n.279C>T|||||| 22 19109747 . G GGCTGCGTGACCCC . . ANN=GGCTGCGTGACCCC|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/10|c.-29_-28insGGGGTCACGCAGC|||||29|,GGCTGCGTGACCCC|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/9|c.-29_-28insGGGGTCACGCAGC|||||29|,GGCTGCGTGACCCC|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/9|c.-29_-28insGGGGTCACGCAGC|||||29|,GGCTGCGTGACCCC|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/10|c.-29_-28insGGGGTCACGCAGC|||||29|,GGCTGCGTGACCCC|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/9|n.220_221insGGGGTCACGCAGC|||||| 22 19109752 . G C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/10|c.-33C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/9|c.-33C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/9|c.-33C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/10|c.-33C>G||||||,C|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/10|c.-33C>G|||||33|,C|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/9|c.-33C>G|||||33|,C|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/9|c.-33C>G|||||33|,C|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/10|c.-33C>G|||||33|,C|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/9|n.216C>G|||||| 22 19109753 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/10|c.-34T>C|||||34|,G|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/9|c.-34T>C|||||34|,G|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/9|c.-34T>C|||||34|,G|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/10|c.-34T>C|||||34|,G|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/9|n.215T>C|||||| 22 19109764 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_005137.2|Coding|1/10|c.-45T>C|||||45|,G|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173533.1|Coding|1/9|c.-45T>C|||||45|,G|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001173534.1|Coding|1/9|c.-45T>C|||||45|,G|5_prime_UTR_variant|MODIFIER|DGCR2|DGCR2|transcript|NM_001184781.1|Coding|1/10|c.-45T>C|||||45|,G|non_coding_exon_variant|MODIFIER|DGCR2|DGCR2|transcript|NR_033674.1|Noncoding|1/9|n.204T>C|||||| 22 19118901 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.-12G>A|||||12|,A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2808C>T|||||2808| 22 19118918 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.6C>T|p.Asp2Asp|598/1816|6/1077|2/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2791G>A|||||2791| 22 19118973 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.61G>A|p.Gly21Ser|653/1816|61/1077|21/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2736C>T|||||2736| 22 19118992 . A G . . ANN=G|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.80A>G|p.Lys27Arg|672/1816|80/1077|27/358||,G|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2717T>C|||||2717| 22 19119136 . CTT C . . ANN=C|frameshift_variant|HIGH|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.225_226delTT|p.Thr75fs|817/1816|225/1077|75/358||,C|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2571_*2572delAA|||||2571|;LOF=(TSSK2|TSSK2|1|1.00) 22 19119161 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.249C>T|p.Asp83Asp|841/1816|249/1077|83/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2548G>A|||||2548| 22 19119162 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.250G>A|p.Gly84Arg|842/1816|250/1077|84/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2547C>T|||||2547| 22 19119252 . C T . . ANN=T|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.340C>T|p.Arg114Cys|932/1816|340/1077|114/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2457G>A|||||2457| 22 19119265 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.353G>A|p.Arg118Gln|945/1816|353/1077|118/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2444C>T|||||2444| 22 19119490 . A C . . ANN=C|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.578A>C|p.Gln193Pro|1170/1816|578/1077|193/358||,C|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2219T>G|||||2219| 22 19119502 . A G . . ANN=G|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.590A>G|p.Tyr197Cys|1182/1816|590/1077|197/358||,G|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2207T>C|||||2207| 22 19119522 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.610G>A|p.Val204Met|1202/1816|610/1077|204/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2187C>T|||||2187| 22 19119545 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.633C>T|p.Cys211Cys|1225/1816|633/1077|211/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2164G>A|||||2164| 22 19119549 . T C . . ANN=C|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.637T>C|p.Ser213Pro|1229/1816|637/1077|213/358||,C|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2160A>G|||||2160| 22 19119580 . A G . . ANN=G|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.668A>G|p.Lys223Arg|1260/1816|668/1077|223/358||,G|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2129T>C|||||2129| 22 19119589 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.677G>A|p.Arg226His|1269/1816|677/1077|226/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2120C>T|||||2120| 22 19119686 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.774C>T|p.Ser258Ser|1366/1816|774/1077|258/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*2023G>A|||||2023| 22 19119721 . C T . . ANN=T|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.809C>T|p.Ser270Leu|1401/1816|809/1077|270/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*1988G>A|||||1988| 22 19119751 . C T . . ANN=T|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.839C>T|p.Thr280Met|1431/1816|839/1077|280/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*1958G>A|||||1958| 22 19119825 . T C . . ANN=C|synonymous_variant|LOW|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.913T>C|p.Leu305Leu|1505/1816|913/1077|305/358||,C|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*1884A>G|||||1884| 22 19119833 . C T . . ANN=T|synonymous_variant|LOW|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.921C>T|p.Pro307Pro|1513/1816|921/1077|307/358||,T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*1876G>A|||||1876| 22 19119938 . G A . . ANN=A|synonymous_variant|LOW|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.1026G>A|p.Arg342Arg|1618/1816|1026/1077|342/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*1771C>T|||||1771| 22 19119960 . G A . . ANN=A|missense_variant|MODERATE|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.1048G>A|p.Gly350Arg|1640/1816|1048/1077|350/358||,A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*1749C>T|||||1749| 22 19120005 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*1704C>T|||||1704|,A|3_prime_UTR_variant|MODIFIER|TSSK2|TSSK2|transcript|NM_053006.4|Coding|1/1|c.*16G>A|||||16| 22 19121681 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.*28G>A|||||28| 22 19121721 . C T . . ANN=T|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.1419G>A|p.Ser473Ser|1456/5385|1419/1431|473/476|| 22 19121722 . G C . . ANN=C|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.1418C>G|p.Ser473Trp|1455/5385|1418/1431|473/476|| 22 19121872 . G A . . ANN=A|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|10/10|c.1268C>T|p.Ala423Val|1305/5385|1268/1431|423/476|| 22 19122016 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|9/9|c.1152-28G>A|||||| 22 19122035 . A C . . ANN=C|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|9/9|c.1152-47T>G|||||| 22 19122562 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|9/9|c.1151+11G>A|||||| 22 19122632 . A T . . ANN=T|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|9/10|c.1092T>A|p.Ala364Ala|1129/5385|1092/1431|364/476|| 22 19122665 . C T . . ANN=T|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|9/10|c.1059G>A|p.Glu353Glu|1096/5385|1059/1431|353/476|| 22 19122691 . AC A . . ANN=A|splice_region_variant&intron_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|8/9|c.1036-4delG|||||| 22 19122718 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|8/9|c.1036-30G>A|||||| 22 19124820 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|8/9|c.1035+16G>A|||||| 22 19124822 . T A . . ANN=A|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|8/9|c.1035+14A>T|||||| 22 19124865 . C T . . ANN=T|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|8/10|c.1006G>A|p.Val336Met|1043/5385|1006/1431|336/476|| 22 19124866 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|8/10|c.1005C>T|p.Tyr335Tyr|1042/5385|1005/1431|335/476|| 22 19124902 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|8/10|c.969C>T|p.Asn323Asn|1006/5385|969/1431|323/476|| 22 19124938 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|8/10|c.933C>T|p.Asn311Asn|970/5385|933/1431|311/476|| 22 19125772 . C T . . ANN=T|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|7/10|c.881G>A|p.Arg294Gln|918/5385|881/1431|294/476|| 22 19126623 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|6/9|c.822+49G>A|||||| 22 19126631 . T C . . ANN=C|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|6/9|c.822+41A>G|||||| 22 19126794 . C T . . ANN=T|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|6/10|c.700G>A|p.Glu234Lys|737/5385|700/1431|234/476|| 22 19126814 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|5/9|c.689-9G>A|||||| 22 19127101 . T C . . ANN=C|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|5/9|c.688+24A>G|||||| 22 19127119 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|5/9|c.688+6T>C|||||| 22 19127222 . T A . . ANN=A|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|5/10|c.591A>T|p.Glu197Asp|628/5385|591/1431|197/476|| 22 19127318 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|4/9|c.570+50G>A|||||| 22 19127342 . T A . . ANN=A|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|4/9|c.570+26A>T|||||| 22 19127404 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|4/10|c.534C>T|p.His178His|571/5385|534/1431|178/476|| 22 19127488 . G A . . ANN=A|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|4/10|c.450C>T|p.Val150Val|487/5385|450/1431|150/476|| 22 19130004 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|3/9|c.400+47G>A|||||| 22 19130064 . T C . . ANN=C|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|3/10|c.387A>G|p.Arg129Arg|424/5385|387/1431|129/476|| 22 19130247 . G A . . ANN=A|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|2/10|c.296C>T|p.Pro99Leu|333/5385|296/1431|99/476|| 22 19130345 . C T . . ANN=T|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|2/10|c.198G>A|p.Lys66Lys|235/5385|198/1431|66/476|| 22 19130445 . C T . . ANN=T|intron_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|1/9|c.136-38G>A|||||| 22 19132011 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|1/9|c.135+8C>T|||||| 22 19132061 . C T . . ANN=T|synonymous_variant|LOW|DGCR14|DGCR14|transcript|NM_022719.2|Coding|1/10|c.93G>A|p.Ala31Ala|130/5385|93/1431|31/476|| 22 19132062 . G A . . ANN=A|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|1/10|c.92C>T|p.Ala31Val|129/5385|92/1431|31/476|| 22 19132135 . A C . . ANN=C|missense_variant|MODERATE|DGCR14|DGCR14|transcript|NM_022719.2|Coding|1/10|c.19T>G|p.Ser7Ala|56/5385|19/1431|7/476|| 22 19132155 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|1/10|c.-2C>G|||||2| 22 19132160 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|DGCR14|DGCR14|transcript|NM_022719.2|Coding|1/10|c.-7G>T|||||7| 22 19132196 . G A . . ANN=A|intergenic_region|MODIFIER|DGCR14-GSC2|DGCR14-GSC2|intergenic_region|DGCR14-GSC2||||||||| 22 19136508 . C G . . ANN=G|missense_variant|MODERATE|GSC2|GSC2|transcript|NM_005315.1|Coding|3/3|c.614G>C|p.Cys205Ser|614/618|614/618|205/205|| 22 19136565 . C T . . ANN=T|missense_variant|MODERATE|GSC2|GSC2|transcript|NM_005315.1|Coding|3/3|c.557G>A|p.Arg186His|557/618|557/618|186/205|| 22 19136585 . G A . . ANN=A|synonymous_variant|LOW|GSC2|GSC2|transcript|NM_005315.1|Coding|3/3|c.537C>T|p.Ala179Ala|537/618|537/618|179/205|| 22 19136621 . G T . . ANN=T|intron_variant|MODIFIER|GSC2|GSC2|transcript|NM_005315.1|Coding|2/2|c.514-13C>A|||||| 22 19136631 . G A . . ANN=A|intron_variant|MODIFIER|GSC2|GSC2|transcript|NM_005315.1|Coding|2/2|c.514-23C>T|||||| 22 19137141 . G A . . ANN=A|intron_variant|MODIFIER|GSC2|GSC2|transcript|NM_005315.1|Coding|2/2|c.513+35C>T|||||| 22 19137290 . G A . . ANN=A|synonymous_variant|LOW|GSC2|GSC2|transcript|NM_005315.1|Coding|2/3|c.399C>T|p.Phe133Phe|399/618|399/618|133/205|| 22 19163606 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|8/8|c.*37G>A|||||37|,T|3_prime_UTR_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|9/9|c.*37G>A|||||37|,T|3_prime_UTR_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|9/9|c.*37G>A|||||37|,T|non_coding_exon_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|8/8|n.1024G>A|||||| 22 19163685 . A G . . ANN=G|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|8/8|c.915T>C|p.Asp305Asp|1065/1662|915/957|305/318||,G|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|9/9|c.585T>C|p.Asp195Asp|919/1516|585/627|195/208||,G|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|9/9|c.894T>C|p.Asp298Asp|1084/1681|894/936|298/311||,G|non_coding_exon_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|8/8|n.945T>C|||||| 22 19163776 . G A . . ANN=A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|7/7|c.843-19C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|8/8|c.513-19C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|8/8|c.822-19C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|7/7|n.873-19C>T|||||| 22 19163941 . G T . . ANN=T|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|7/8|c.835C>A|p.Leu279Ile|985/1662|835/957|279/318||,T|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|8/9|c.505C>A|p.Leu169Ile|839/1516|505/627|169/208||,T|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|8/9|c.814C>A|p.Leu272Ile|1004/1681|814/936|272/311||,T|non_coding_exon_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|7/8|n.865C>A|||||| 22 19163968 . C T . . ANN=T|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|7/8|c.808G>A|p.Gly270Ser|958/1662|808/957|270/318||,T|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|8/9|c.478G>A|p.Gly160Ser|812/1516|478/627|160/208||,T|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|8/9|c.787G>A|p.Gly263Ser|977/1681|787/936|263/311||,T|non_coding_exon_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|7/8|n.838G>A|||||| 22 19164152 . A G . . ANN=G|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|6/8|c.707T>C|p.Ile236Thr|857/1662|707/957|236/318||,G|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|7/9|c.377T>C|p.Ile126Thr|711/1516|377/627|126/208||,G|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|7/9|c.686T>C|p.Ile229Thr|876/1681|686/936|229/311||,G|non_coding_exon_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|6/8|n.737T>C|||||| 22 19164312 . G A . . ANN=A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|5/7|c.652+47C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|6/8|c.322+47C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|6/8|c.631+47C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|5/7|n.682+47C>T|||||| 22 19164401 . T C . . ANN=C|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|5/8|c.610A>G|p.Ile204Val|760/1662|610/957|204/318||,C|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|6/9|c.280A>G|p.Ile94Val|614/1516|280/627|94/208||,C|missense_variant|MODERATE|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|6/9|c.589A>G|p.Ile197Val|779/1681|589/936|197/311||,C|non_coding_exon_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|5/8|n.640A>G|||||| 22 19164504 . G A . . ANN=A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|4/7|c.548-41C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|5/8|c.218-41C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|5/8|c.527-41C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|4/7|n.578-41C>T|||||| 22 19164509 . C A . . ANN=A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|4/7|c.548-46G>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|5/8|c.218-46G>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|5/8|c.527-46G>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|4/7|n.578-46G>T|||||| 22 19164688 . T G . . ANN=G|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|4/8|c.492A>C|p.Pro164Pro|642/1662|492/957|164/318||,G|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|5/9|c.162A>C|p.Pro54Pro|496/1516|162/627|54/208||,G|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|5/9|c.471A>C|p.Pro157Pro|661/1681|471/936|157/311||,G|non_coding_exon_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|4/8|n.522A>C|||||| 22 19165216 . G A . . ANN=A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|3/7|c.462+24C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|4/8|c.132+24C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|4/8|c.441+24C>T||||||,A|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|3/7|n.492+239C>T|||||| 22 19165264 . G C . . ANN=C|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|3/8|c.438C>G|p.Val146Val|588/1662|438/957|146/318||,C|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|4/9|c.108C>G|p.Val36Val|442/1516|108/627|36/208||,C|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|4/9|c.417C>G|p.Val139Val|607/1681|417/936|139/311||,C|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|3/7|n.492+191C>G|||||| 22 19165478 . A G . . ANN=G|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|2/8|c.300T>C|p.Gly100Gly|450/1662|300/957|100/318||,G|synonymous_variant|LOW|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|3/9|c.279T>C|p.Gly93Gly|469/1681|279/936|93/311||,G|5_prime_UTR_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|3/9|c.-31T>C|||||107|,G|non_coding_exon_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|3/8|n.469T>C|||||| 22 19165629 . G T . . ANN=T|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001256534.1|Coding|1/7|c.223+17C>A||||||,T|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_001287387.1|Coding|2/8|c.-108+17C>A||||||,T|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NM_005984.4|Coding|2/8|c.202+17C>A||||||,T|intron_variant|MODIFIER|SLC25A1|SLC25A1|transcript|NR_046298.2|Noncoding|2/7|n.392+17C>A|||||| 22 19167741 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|32/33|c.4914G>A|p.Gly1638Gly|4989/5514|4914/4923|1638/1640||,T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|31/32|c.4743G>A|p.Gly1581Gly|4818/5343|4743/4752|1581/1583|| 22 19167798 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|31/32|c.4904-47C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|30/31|c.4733-47C>T|||||| 22 19167801 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|31/32|c.4904-50G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|30/31|c.4733-50G>A|||||| 22 19168288 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|31/33|c.4859G>A|p.Arg1620His|4934/5514|4859/4923|1620/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|30/32|c.4688G>A|p.Arg1563His|4763/5343|4688/4752|1563/1583|| 22 19168289 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|31/33|c.4858C>T|p.Arg1620Cys|4933/5514|4858/4923|1620/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|30/32|c.4687C>T|p.Arg1563Cys|4762/5343|4687/4752|1563/1583|| 22 19168347 . C A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/32|c.4828-28G>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/31|c.4657-28G>T|||||| 22 19168355 . A C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/32|c.4828-36T>G||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/31|c.4657-36T>G|||||| 22 19170888 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/32|c.4827+15G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/31|c.4656+15G>A|||||| 22 19170889 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/32|c.4827+14C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/31|c.4656+14C>T|||||| 22 19170956 . C A,G,T . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/33|c.4774G>T|p.Val1592Leu|4849/5514|4774/4923|1592/1640||,G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/33|c.4774G>C|p.Val1592Leu|4849/5514|4774/4923|1592/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/33|c.4774G>A|p.Val1592Met|4849/5514|4774/4923|1592/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/32|c.4603G>T|p.Val1535Leu|4678/5343|4603/4752|1535/1583||,G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/32|c.4603G>C|p.Val1535Leu|4678/5343|4603/4752|1535/1583||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/32|c.4603G>A|p.Val1535Met|4678/5343|4603/4752|1535/1583|| 22 19170999 . AAGCAGGTCAT A . . ANN=A|frameshift_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/33|c.4721_4730delATGACCTGCT|p.Tyr1574fs|4805/5514|4721/4923|1574/1640||,A|frameshift_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/32|c.4550_4559delATGACCTGCT|p.Tyr1517fs|4634/5343|4550/4752|1517/1583|| 22 19171053 . C G . . ANN=G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/33|c.4677G>C|p.Glu1559Asp|4752/5514|4677/4923|1559/1640||,G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/32|c.4506G>C|p.Glu1502Asp|4581/5343|4506/4752|1502/1583|| 22 19171074 . C CT . . ANN=CT|frameshift_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/33|c.4655dupA|p.Leu1553fs|4730/5514|4655/4923|1552/1640||,CT|frameshift_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/32|c.4484dupA|p.Leu1496fs|4559/5343|4484/4752|1495/1583||;LOF=(CLTCL1|CLTCL1|2|1.00) 22 19171083 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|30/33|c.4647G>A|p.Leu1549Leu|4722/5514|4647/4923|1549/1640||,T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|29/32|c.4476G>A|p.Leu1492Leu|4551/5343|4476/4752|1492/1583|| 22 19175095 . A C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|29/33|c.4580T>G|p.Leu1527Arg|4655/5514|4580/4923|1527/1640||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|28/31|c.4434+398T>G|||||| 22 19175133 . C A . . ANN=A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|29/33|c.4542G>T|p.Leu1514Leu|4617/5514|4542/4923|1514/1640||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|28/31|c.4434+360G>T|||||| 22 19175265 . G C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|28/32|c.4435-25C>G||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|28/31|c.4434+228C>G|||||| 22 19175623 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|27/32|c.4324-20C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|27/31|c.4324-20C>T|||||| 22 19178854 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|27/33|c.4285C>T|p.Arg1429Trp|4360/5514|4285/4923|1429/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|27/32|c.4285C>T|p.Arg1429Trp|4360/5343|4285/4752|1429/1583|| 22 19183727 . T TAGGG . . ANN=TAGGG|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|26/32|c.4191+49_4191+50insCCCT||||||,TAGGG|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|26/31|c.4191+49_4191+50insCCCT|||||| 22 19183787 . A G . . ANN=G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|26/33|c.4181T>C|p.Ile1394Thr|4256/5514|4181/4923|1394/1640||,G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|26/32|c.4181T>C|p.Ile1394Thr|4256/5343|4181/4752|1394/1583|| 22 19183884 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|26/33|c.4084G>A|p.Val1362Met|4159/5514|4084/4923|1362/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|26/32|c.4084G>A|p.Val1362Met|4159/5343|4084/4752|1362/1583|| 22 19183948 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|25/32|c.4042-22C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|25/31|c.4042-22C>T|||||| 22 19183995 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|25/32|c.4041+5C>T||||||,A|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|25/31|c.4041+5C>T|||||| 22 19184095 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|25/33|c.3946A>G|p.Met1316Val|4021/5514|3946/4923|1316/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|25/32|c.3946A>G|p.Met1316Val|4021/5343|3946/4752|1316/1583|| 22 19184126 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|25/33|c.3915G>A|p.Ala1305Ala|3990/5514|3915/4923|1305/1640||,T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|25/32|c.3915G>A|p.Ala1305Ala|3990/5343|3915/4752|1305/1583|| 22 19184146 . G C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|25/33|c.3895C>G|p.Leu1299Val|3970/5514|3895/4923|1299/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|25/32|c.3895C>G|p.Leu1299Val|3970/5343|3895/4752|1299/1583|| 22 19184171 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|24/32|c.3874-4C>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|24/31|c.3874-4C>G|||||| 22 19187375 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|23/32|c.3766-23C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|23/31|c.3766-23C>T|||||| 22 19188876 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|23/33|c.3729C>T|p.Asn1243Asn|3804/5514|3729/4923|1243/1640||,A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|23/32|c.3729C>T|p.Asn1243Asn|3804/5343|3729/4752|1243/1583|| 22 19188971 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|23/33|c.3634G>A|p.Glu1212Lys|3709/5514|3634/4923|1212/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|23/32|c.3634G>A|p.Glu1212Lys|3709/5343|3634/4752|1212/1583|| 22 19189001 . C CA . . ANN=CA|frameshift_variant&splice_region_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|23/33|c.3603dupT|p.Gly1202fs|3678/5514|3603/4923|1201/1640||,CA|frameshift_variant&splice_region_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|23/32|c.3603dupT|p.Gly1202fs|3678/5343|3603/4752|1201/1583||;LOF=(CLTCL1|CLTCL1|2|1.00) 22 19189003 . A AC . . ANN=AC|splice_acceptor_variant&intron_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|22/32|c.3602-1_3602insG||||||,AC|splice_acceptor_variant&intron_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|22/31|c.3602-1_3602insG||||||;LOF=(CLTCL1|CLTCL1|2|1.00) 22 19189027 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|22/32|c.3602-24G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|22/31|c.3602-24G>A|||||| 22 19189034 . ACT A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|22/32|c.3602-33_3602-32delAG||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|22/31|c.3602-33_3602-32delAG|||||| 22 19195680 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|22/33|c.3584A>G|p.Asn1195Ser|3659/5514|3584/4923|1195/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|22/32|c.3584A>G|p.Asn1195Ser|3659/5343|3584/4752|1195/1583|| 22 19195771 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|22/33|c.3493C>T|p.Arg1165Cys|3568/5514|3493/4923|1165/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|22/32|c.3493C>T|p.Arg1165Cys|3568/5343|3493/4752|1165/1583|| 22 19196449 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|21/33|c.3425A>G|p.Gln1142Arg|3500/5514|3425/4923|1142/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|21/32|c.3425A>G|p.Gln1142Arg|3500/5343|3425/4752|1142/1583|| 22 19196491 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|21/33|c.3383A>G|p.Tyr1128Cys|3458/5514|3383/4923|1128/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|21/32|c.3383A>G|p.Tyr1128Cys|3458/5343|3383/4752|1128/1583|| 22 19196502 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|21/33|c.3372C>T|p.Ala1124Ala|3447/5514|3372/4923|1124/1640||,A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|21/32|c.3372C>T|p.Ala1124Ala|3447/5343|3372/4752|1124/1583|| 22 19196615 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|21/33|c.3259G>A|p.Glu1087Lys|3334/5514|3259/4923|1087/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|21/32|c.3259G>A|p.Glu1087Lys|3334/5343|3259/4752|1087/1583|| 22 19196673 . C CA . . ANN=CA|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|20/32|c.3250-50_3250-49insT||||||,CA|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|20/31|c.3250-50_3250-49insT|||||| 22 19197819 . T TAC . . ANN=TAC|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|20/32|c.3249+16_3249+17insGT||||||,TAC|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|20/31|c.3249+16_3249+17insGT|||||| 22 19197896 . T C . . ANN=C|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|20/33|c.3189A>G|p.Ala1063Ala|3264/5514|3189/4923|1063/1640||,C|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|20/32|c.3189A>G|p.Ala1063Ala|3264/5343|3189/4752|1063/1583|| 22 19197948 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|20/33|c.3137G>A|p.Arg1046His|3212/5514|3137/4923|1046/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|20/32|c.3137G>A|p.Arg1046His|3212/5343|3137/4752|1046/1583|| 22 19197949 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|20/33|c.3136C>T|p.Arg1046Cys|3211/5514|3136/4923|1046/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|20/32|c.3136C>T|p.Arg1046Cys|3211/5343|3136/4752|1046/1583|| 22 19197988 . T A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|20/33|c.3097A>T|p.Ile1033Phe|3172/5514|3097/4923|1033/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|20/32|c.3097A>T|p.Ile1033Phe|3172/5343|3097/4752|1033/1583|| 22 19198017 . T A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|20/33|c.3068A>T|p.Asn1023Ile|3143/5514|3068/4923|1023/1640||,A|missense_variant&splice_region_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|20/32|c.3068A>T|p.Asn1023Ile|3143/5343|3068/4752|1023/1583|| 22 19198044 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|19/32|c.3066-25C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|19/31|c.3066-25C>T|||||| 22 19203577 . T A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|19/32|c.3065+44A>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|19/31|c.3065+44A>T|||||| 22 19203603 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|19/32|c.3065+18G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|19/31|c.3065+18G>A|||||| 22 19203606 . CT C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|19/32|c.3065+14delA||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|19/31|c.3065+14delA|||||| 22 19203625 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|19/33|c.3061C>T|p.His1021Tyr|3136/5514|3061/4923|1021/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|19/32|c.3061C>T|p.His1021Tyr|3136/5343|3061/4752|1021/1583|| 22 19203629 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|19/33|c.3057C>T|p.Ser1019Ser|3132/5514|3057/4923|1019/1640||,A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|19/32|c.3057C>T|p.Ser1019Ser|3132/5343|3057/4752|1019/1583|| 22 19203682 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|19/33|c.3004A>G|p.Asn1002Asp|3079/5514|3004/4923|1002/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|19/32|c.3004A>G|p.Asn1002Asp|3079/5343|3004/4752|1002/1583|| 22 19203725 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|19/33|c.2961G>A|p.Glu987Glu|3036/5514|2961/4923|987/1640||,T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|19/32|c.2961G>A|p.Glu987Glu|3036/5343|2961/4752|987/1583|| 22 19207346 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|18/32|c.2919+48G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|18/31|c.2919+48G>A|||||| 22 19207350 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|18/32|c.2919+44G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|18/31|c.2919+44G>A|||||| 22 19207377 . C A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|18/32|c.2919+17G>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|18/31|c.2919+17G>T|||||| 22 19207411 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|18/33|c.2902A>G|p.Arg968Gly|2977/5514|2902/4923|968/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|18/32|c.2902A>G|p.Arg968Gly|2977/5343|2902/4752|968/1583|| 22 19207455 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|18/33|c.2858C>T|p.Pro953Leu|2933/5514|2858/4923|953/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|18/32|c.2858C>T|p.Pro953Leu|2933/5343|2858/4752|953/1583|| 22 19207479 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|18/33|c.2834G>A|p.Arg945His|2909/5514|2834/4923|945/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|18/32|c.2834G>A|p.Arg945His|2909/5343|2834/4752|945/1583|| 22 19207491 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|18/33|c.2822A>G|p.Lys941Arg|2897/5514|2822/4923|941/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|18/32|c.2822A>G|p.Lys941Arg|2897/5343|2822/4752|941/1583|| 22 19207533 . CAT C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|17/32|c.2797-19_2797-18delAT||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|17/31|c.2797-19_2797-18delAT|||||| 22 19209073 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|17/33|c.2623A>G|p.Thr875Ala|2698/5514|2623/4923|875/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|17/32|c.2623A>G|p.Thr875Ala|2698/5343|2623/4752|875/1583|| 22 19209167 . A G . . ANN=G|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|16/32|c.2562-33T>C||||||,G|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|16/31|c.2562-33T>C|||||| 22 19209458 . A C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|16/32|c.2561+16T>G||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|16/31|c.2561+16T>G|||||| 22 19209603 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|16/33|c.2432G>A|p.Arg811Gln|2507/5514|2432/4923|811/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|16/32|c.2432G>A|p.Arg811Gln|2507/5343|2432/4752|811/1583|| 22 19210178 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|15/32|c.2418+29G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|15/31|c.2418+29G>A|||||| 22 19211535 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|14/33|c.2171A>G|p.Asp724Gly|2246/5514|2171/4923|724/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|14/32|c.2171A>G|p.Asp724Gly|2246/5343|2171/4752|724/1583|| 22 19211616 . C A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|13/32|c.2129-39G>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|13/31|c.2129-39G>T|||||| 22 19212947 . T C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|13/32|c.2128+29A>G||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|13/31|c.2128+29A>G|||||| 22 19212959 . G C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|13/32|c.2128+17C>G||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|13/31|c.2128+17C>G|||||| 22 19212968 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|13/32|c.2128+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|13/31|c.2128+8A>G|||||| 22 19212999 . A T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|13/33|c.2105T>A|p.Phe702Tyr|2180/5514|2105/4923|702/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|13/32|c.2105T>A|p.Phe702Tyr|2180/5343|2105/4752|702/1583|| 22 19213033 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|13/33|c.2071G>A|p.Glu691Lys|2146/5514|2071/4923|691/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|13/32|c.2071G>A|p.Glu691Lys|2146/5343|2071/4752|691/1583|| 22 19213145 . ATTGAC A . . ANN=A|frameshift_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|13/33|c.1954_1958delGTCAA|p.Val652fs|2033/5514|1954/4923|652/1640||,A|frameshift_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|13/32|c.1954_1958delGTCAA|p.Val652fs|2033/5343|1954/4752|652/1583||;LOF=(CLTCL1|CLTCL1|2|1.00) 22 19213744 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|12/33|c.1945G>A|p.Glu649Lys|2020/5514|1945/4923|649/1640||,T|missense_variant&splice_region_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|12/32|c.1945G>A|p.Glu649Lys|2020/5343|1945/4752|649/1583|| 22 19213820 . C A . . ANN=A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|12/33|c.1869G>T|p.Leu623Leu|1944/5514|1869/4923|623/1640||,A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|12/32|c.1869G>T|p.Leu623Leu|1944/5343|1869/4752|623/1583|| 22 19217422 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|11/33|c.1721G>A|p.Arg574His|1796/5514|1721/4923|574/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|11/32|c.1721G>A|p.Arg574His|1796/5343|1721/4752|574/1583|| 22 19219980 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|10/32|c.1644+19G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|10/31|c.1644+19G>A|||||| 22 19219991 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|10/32|c.1644+8T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|10/31|c.1644+8T>C|||||| 22 19219992 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|10/32|c.1644+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|10/31|c.1644+7G>A|||||| 22 19220065 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|10/33|c.1578G>A|p.Pro526Pro|1653/5514|1578/4923|526/1640||,T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|10/32|c.1578G>A|p.Pro526Pro|1653/5343|1578/4752|526/1583|| 22 19220648 . G T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|9/32|c.1521+41C>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|9/31|c.1521+41C>A|||||| 22 19220667 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|9/32|c.1521+22G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|9/31|c.1521+22G>A|||||| 22 19220768 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|9/33|c.1442G>A|p.Arg481Gln|1517/5514|1442/4923|481/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|9/32|c.1442G>A|p.Arg481Gln|1517/5343|1442/4752|481/1583|| 22 19220775 . A C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|9/33|c.1435T>G|p.Tyr479Asp|1510/5514|1435/4923|479/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|9/32|c.1435T>G|p.Tyr479Asp|1510/5343|1435/4752|479/1583|| 22 19220908 . C G . . ANN=G|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|8/32|c.1368+37G>C||||||,G|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|8/31|c.1368+37G>C|||||| 22 19220914 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|8/32|c.1368+31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|8/31|c.1368+31C>T|||||| 22 19220971 . G T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|8/33|c.1342C>A|p.Leu448Ile|1417/5514|1342/4923|448/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|8/32|c.1342C>A|p.Leu448Ile|1417/5343|1342/4752|448/1583|| 22 19221123 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|8/33|c.1190C>T|p.Thr397Met|1265/5514|1190/4923|397/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|8/32|c.1190C>T|p.Thr397Met|1265/5343|1190/4752|397/1583|| 22 19221135 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|8/33|c.1178G>A|p.Arg393His|1253/5514|1178/4923|393/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|8/32|c.1178G>A|p.Arg393His|1253/5343|1178/4752|393/1583|| 22 19221179 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|7/32|c.1168-34C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|7/31|c.1168-34C>T|||||| 22 19222138 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|7/33|c.1061G>A|p.Arg354His|1136/5514|1061/4923|354/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|7/32|c.1061G>A|p.Arg354His|1136/5343|1061/4752|354/1583|| 22 19222143 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|7/33|c.1056C>T|p.Ala352Ala|1131/5514|1056/4923|352/1640||,A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|7/32|c.1056C>T|p.Ala352Ala|1131/5343|1056/4752|352/1583|| 22 19222154 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|7/33|c.1045C>T|p.Leu349Leu|1120/5514|1045/4923|349/1640||,A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|7/32|c.1045C>T|p.Leu349Leu|1120/5343|1045/4752|349/1583|| 22 19222234 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|6/32|c.970-5T>C||||||,G|splice_region_variant&intron_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|6/31|c.970-5T>C|||||| 22 19222239 . CACA C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|6/32|c.970-13_970-11delTGT||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|6/31|c.970-13_970-11delTGT|||||| 22 19222259 . C T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|6/32|c.970-30G>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|6/31|c.970-30G>A|||||| 22 19222260 . G A . . ANN=A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|6/32|c.970-31C>T||||||,A|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|6/31|c.970-31C>T|||||| 22 19223229 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|6/33|c.959A>G|p.Lys320Arg|1034/5514|959/4923|320/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|6/32|c.959A>G|p.Lys320Arg|1034/5343|959/4752|320/1583|| 22 19223261 . G A . . ANN=A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|6/33|c.927C>T|p.His309His|1002/5514|927/4923|309/1640||,A|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|6/32|c.927C>T|p.His309His|1002/5343|927/4752|309/1583|| 22 19223332 . C G . . ANN=G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|6/33|c.856G>C|p.Asp286His|931/5514|856/4923|286/1640||,G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|6/32|c.856G>C|p.Asp286His|931/5343|856/4752|286/1583|| 22 19223352 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|6/33|c.836A>G|p.Tyr279Cys|911/5514|836/4923|279/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|6/32|c.836A>G|p.Tyr279Cys|911/5343|836/4752|279/1583|| 22 19226767 . T C . . ANN=C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|5/32|c.795+31A>G||||||,C|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|5/31|c.795+31A>G|||||| 22 19226874 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|5/33|c.719A>G|p.Asn240Ser|794/5514|719/4923|240/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|5/32|c.719A>G|p.Asn240Ser|794/5343|719/4752|240/1583|| 22 19226958 . G T . . ANN=T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|4/32|c.682-47C>A||||||,T|intron_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|4/31|c.682-47C>A|||||| 22 19230365 . T C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|4/33|c.614A>G|p.Lys205Arg|689/5514|614/4923|205/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|4/32|c.614A>G|p.Lys205Arg|689/5343|614/4752|205/1583|| 22 19241488 . C T . . ANN=T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|3/33|c.513G>A|p.Ser171Ser|588/5514|513/4923|171/1640||,T|synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|3/32|c.513G>A|p.Ser171Ser|588/5343|513/4752|171/1583|| 22 19241585 . A C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|3/33|c.416T>G|p.Met139Arg|491/5514|416/4923|139/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|3/32|c.416T>G|p.Met139Arg|491/5343|416/4752|139/1583|| 22 19241631 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|3/33|c.370G>A|p.Glu124Lys|445/5514|370/4923|124/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|3/32|c.370G>A|p.Glu124Lys|445/5343|370/4752|124/1583|| 22 19241688 . C T . . ANN=T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|3/33|c.313G>A|p.Ala105Thr|388/5514|313/4923|105/1640||,T|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|3/32|c.313G>A|p.Ala105Thr|388/5343|313/4752|105/1583|| 22 19263157 . A G . . ANN=G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|2/33|c.239T>C|p.Ile80Thr|314/5514|239/4923|80/1640||,G|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|2/32|c.239T>C|p.Ile80Thr|314/5343|239/4752|80/1583|| 22 19263172 . G C . . ANN=C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|2/33|c.224C>G|p.Pro75Arg|299/5514|224/4923|75/1640||,C|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|2/32|c.224C>G|p.Pro75Arg|299/5343|224/4752|75/1583|| 22 19263214 . G A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|2/33|c.182C>T|p.Pro61Leu|257/5514|182/4923|61/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|2/32|c.182C>T|p.Pro61Leu|257/5343|182/4752|61/1583|| 22 19263266 . C A . . ANN=A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|2/33|c.130G>T|p.Val44Phe|205/5514|130/4923|44/1640||,A|missense_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|2/32|c.130G>T|p.Val44Phe|205/5343|130/4752|44/1583|| 22 19263345 . GT G . . ANN=G|frameshift_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|2/33|c.50delA|p.Asn17fs|125/5514|50/4923|17/1640||,G|frameshift_variant|HIGH|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|2/32|c.50delA|p.Asn17fs|125/5343|50/4752|17/1583|| 22 19263351 . G T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|2/33|c.45C>A|p.Leu15Leu|120/5514|45/4923|15/1640||,T|splice_region_variant&synonymous_variant|LOW|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|2/32|c.45C>A|p.Leu15Leu|120/5343|45/4752|15/1583|| 22 19263352 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|2/33|c.44T>C|p.Leu15Pro|119/5514|44/4923|15/1640||,G|missense_variant&splice_region_variant|MODERATE|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|2/32|c.44T>C|p.Leu15Pro|119/5343|44/4752|15/1583|| 22 19279194 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_007098.3|Coding|1/33|c.-30C>A|||||30|,T|5_prime_UTR_variant|MODIFIER|CLTCL1|CLTCL1|transcript|NM_001835.3|Coding|1/32|c.-30C>A|||||30| 22 19340834 . G C . . ANN=C|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|23/24|c.2848+45C>G|||||| 22 19340907 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|23/25|c.2820C>T|p.Leu940Leu|3040/4013|2820/3054|940/1017|| 22 19340928 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|23/25|c.2799C>T|p.His933His|3019/4013|2799/3054|933/1017|| 22 19341006 . A G . . ANN=G|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|23/25|c.2721T>C|p.Pro907Pro|2941/4013|2721/3054|907/1017|| 22 19341007 . G C . . ANN=C|missense_variant|MODERATE|HIRA|HIRA|transcript|NM_003325.3|Coding|23/25|c.2720C>G|p.Pro907Arg|2940/4013|2720/3054|907/1017|| 22 19341085 . TAC T . . ANN=T|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|22/24|c.2685-45_2685-44delGT|||||| 22 19341548 . C T . . ANN=T|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|22/25|c.2655G>A|p.Pro885Pro|2875/4013|2655/3054|885/1017|| 22 19343718 . C A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|20/24|c.2455+35G>T|||||| 22 19343769 . T C . . ANN=C|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|20/25|c.2439A>G|p.Leu813Leu|2659/4013|2439/3054|813/1017|| 22 19344404 . GC G . . ANN=G|splice_region_variant&intron_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|19/24|c.2396+8delG|||||| 22 19344492 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|19/25|c.2317C>T|p.Leu773Leu|2537/4013|2317/3054|773/1017|| 22 19344524 . G A . . ANN=A|missense_variant|MODERATE|HIRA|HIRA|transcript|NM_003325.3|Coding|19/25|c.2285C>T|p.Thr762Ile|2505/4013|2285/3054|762/1017|| 22 19346834 . C T . . ANN=T|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|18/24|c.2234+25G>A|||||| 22 19346835 . G A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|18/24|c.2234+24C>T|||||| 22 19346897 . C T . . ANN=T|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|18/25|c.2196G>A|p.Thr732Thr|2416/4013|2196/3054|732/1017|| 22 19347033 . G A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|17/24|c.2086-26C>T|||||| 22 19348891 . C A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|16/24|c.1981-27G>T|||||| 22 19348896 . C T . . ANN=T|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|16/24|c.1981-32G>A|||||| 22 19348905 . T G . . ANN=G|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|16/24|c.1981-41A>C|||||| 22 19348906 . A G . . ANN=G|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|16/24|c.1981-42T>C|||||| 22 19349202 . G A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|16/24|c.1980+48C>T|||||| 22 19349298 . C A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|16/25|c.1932G>T|p.Gly644Gly|2152/4013|1932/3054|644/1017|| 22 19349416 . C T . . ANN=T|missense_variant|MODERATE|HIRA|HIRA|transcript|NM_003325.3|Coding|16/25|c.1814G>A|p.Arg605Gln|2034/4013|1814/3054|605/1017|| 22 19349470 . A G . . ANN=G|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|15/24|c.1776-16T>C|||||| 22 19363188 . C T . . ANN=T|missense_variant|MODERATE|HIRA|HIRA|transcript|NM_003325.3|Coding|15/25|c.1741G>A|p.Ala581Thr|1961/4013|1741/3054|581/1017|| 22 19363213 . C G . . ANN=G|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|15/25|c.1716G>C|p.Arg572Arg|1936/4013|1716/3054|572/1017|| 22 19365428 . C A . . ANN=A|missense_variant|MODERATE|HIRA|HIRA|transcript|NM_003325.3|Coding|14/25|c.1577G>T|p.Ser526Ile|1797/4013|1577/3054|526/1017|| 22 19365466 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|14/25|c.1539C>T|p.Gly513Gly|1759/4013|1539/3054|513/1017|| 22 19365526 . G C . . ANN=C|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|14/25|c.1479C>G|p.Leu493Leu|1699/4013|1479/3054|493/1017|| 22 19365538 . C T . . ANN=T|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|14/25|c.1467G>A|p.Ala489Ala|1687/4013|1467/3054|489/1017|| 22 19365597 . CAAGT C . . ANN=C|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|13/24|c.1416-12_1416-9delACTT|||||| 22 19371166 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|13/25|c.1392C>T|p.Leu464Leu|1612/4013|1392/3054|464/1017|| 22 19373016 . C T . . ANN=T|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|12/24|c.1329+28G>A|||||| 22 19373080 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|12/25|c.1293C>T|p.Gly431Gly|1513/4013|1293/3054|431/1017|| 22 19373100 . A T . . ANN=T|missense_variant|MODERATE|HIRA|HIRA|transcript|NM_003325.3|Coding|12/25|c.1273T>A|p.Ser425Thr|1493/4013|1273/3054|425/1017|| 22 19373191 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|12/25|c.1182C>T|p.Ala394Ala|1402/4013|1182/3054|394/1017|| 22 19373296 . A C . . ANN=C|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|11/24|c.1114-37T>G|||||| 22 19375217 . A G . . ANN=G|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|11/24|c.1113+17T>C|||||| 22 19375282 . G C . . ANN=C|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|11/25|c.1065C>G|p.Leu355Leu|1285/4013|1065/3054|355/1017|| 22 19375978 . C T . . ANN=T|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|10/24|c.1007+29G>A|||||| 22 19376062 . G A . . ANN=A|missense_variant|MODERATE|HIRA|HIRA|transcript|NM_003325.3|Coding|10/25|c.952C>T|p.Arg318Trp|1172/4013|952/3054|318/1017|| 22 19376123 . C T . . ANN=T|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|9/24|c.937-46G>A|||||| 22 19376124 . C T . . ANN=T|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|9/24|c.937-47G>A|||||| 22 19379574 . C T . . ANN=T|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|9/24|c.936+50G>A|||||| 22 19379617 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|9/24|c.936+7C>G|||||| 22 19381922 . C T . . ANN=T|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|8/25|c.765G>A|p.Arg255Arg|985/4013|765/3054|255/1017|| 22 19384355 . C T . . ANN=T|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|7/25|c.609G>A|p.Thr203Thr|829/4013|609/3054|203/1017|| 22 19384377 . C T . . ANN=T|missense_variant|MODERATE|HIRA|HIRA|transcript|NM_003325.3|Coding|7/25|c.587G>A|p.Arg196His|807/4013|587/3054|196/1017|| 22 19384439 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|7/25|c.525C>T|p.Gly175Gly|745/4013|525/3054|175/1017|| 22 19385634 . G A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|5/24|c.398-24C>T|||||| 22 19385645 . T C . . ANN=C|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|5/24|c.398-35A>G|||||| 22 19385660 . T C . . ANN=C|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|5/24|c.398-50A>G|||||| 22 19394675 . A G . . ANN=G|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|4/24|c.302+32T>C|||||| 22 19394689 . A G . . ANN=G|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|4/24|c.302+18T>C|||||| 22 19394805 . G GA . . ANN=GA|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|3/24|c.212-9_212-8insT|||||| 22 19394830 . C G . . ANN=G|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|3/24|c.212-33G>C|||||| 22 19398310 . AAAG A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|1/24|c.38-12_38-10delCTT|||||| 22 19398311 . AAG A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|1/24|c.38-12_38-11delCT|||||| 22 19398312 . AG A . . ANN=A|intron_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|1/24|c.38-12delC|||||| 22 19418979 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|1/25|c.21C>T|p.Thr7Thr|241/4013|21/3054|7/1017|| 22 19418991 . G A . . ANN=A|synonymous_variant|LOW|HIRA|HIRA|transcript|NM_003325.3|Coding|1/25|c.9C>T|p.Leu3Leu|229/4013|9/3054|3/1017|| 22 19419005 . G GGCC . . ANN=GGCC|5_prime_UTR_variant|MODIFIER|HIRA|HIRA|transcript|NM_003325.3|Coding|1/25|c.-9_-7dupGGC|||||7| 22 19420029 . G T . . ANN=T|intergenic_region|MODIFIER|HIRA-MRPL40|HIRA-MRPL40|intergenic_region|HIRA-MRPL40||||||||| 22 19420030 . C T . . ANN=T|intergenic_region|MODIFIER|HIRA-MRPL40|HIRA-MRPL40|intergenic_region|HIRA-MRPL40||||||||| 22 19420035 . C T . . ANN=T|intergenic_region|MODIFIER|HIRA-MRPL40|HIRA-MRPL40|intergenic_region|HIRA-MRPL40||||||||| 22 19420098 . A C . . ANN=C|synonymous_variant|LOW|MRPL40|MRPL40|transcript|NM_003776.2|Coding|1/4|c.21A>C|p.Arg7Arg|63/774|21/621|7/206|| 22 19420109 . T C . . ANN=C|missense_variant|MODERATE|MRPL40|MRPL40|transcript|NM_003776.2|Coding|1/4|c.32T>C|p.Leu11Pro|74/774|32/621|11/206|| 22 19420165 . C A . . ANN=A|intron_variant|MODIFIER|MRPL40|MRPL40|transcript|NM_003776.2|Coding|1/3|c.53+35C>A|||||| 22 19420180 . G C . . ANN=C|intron_variant|MODIFIER|MRPL40|MRPL40|transcript|NM_003776.2|Coding|1/3|c.53+50G>C|||||| 22 19420762 . T C . . ANN=C|intron_variant|MODIFIER|MRPL40|MRPL40|transcript|NM_003776.2|Coding|1/3|c.54-26T>C|||||| 22 19420778 . T A . . ANN=A|intron_variant|MODIFIER|MRPL40|MRPL40|transcript|NM_003776.2|Coding|1/3|c.54-10T>A|||||| 22 19423248 . G A . . ANN=A|synonymous_variant|LOW|MRPL40|MRPL40|transcript|NM_003776.2|Coding|4/4|c.384G>A|p.Glu128Glu|426/774|384/621|128/206|| 22 19423249 . C T . . ANN=T|missense_variant|MODERATE|MRPL40|MRPL40|transcript|NM_003776.2|Coding|4/4|c.385C>T|p.Arg129Cys|427/774|385/621|129/206|| 22 19423250 . G A . . ANN=A|missense_variant|MODERATE|MRPL40|MRPL40|transcript|NM_003776.2|Coding|4/4|c.386G>A|p.Arg129His|428/774|386/621|129/206|| 22 19423356 . G T . . ANN=T|synonymous_variant|LOW|MRPL40|MRPL40|transcript|NM_003776.2|Coding|4/4|c.492G>T|p.Arg164Arg|534/774|492/621|164/206|| 22 19438220 . T A . . ANN=A|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_005659.6|Coding|12/12|c.897A>T|p.Ser299Ser|1027/1783|897/924|299/307||,A|3_prime_UTR_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|12/12|c.*43A>T|||||43| 22 19438227 . CCTT C . . ANN=C|disruptive_inframe_deletion|MODERATE|UFD1L|UFD1L|transcript|NM_005659.6|Coding|12/12|c.887_889delAAG|p.Glu296del|1019/1783|887/924|296/307||,C|3_prime_UTR_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|12/12|c.*33_*35delAAG|||||33| 22 19438305 . C G . . ANN=G|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|11/11|c.850-38G>C||||||,G|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|11/11|c.797-38G>C|||||| 22 19442261 . A G . . ANN=G|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|11/11|c.849+11T>C||||||,G|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|11/11|c.796+64T>C|||||| 22 19443158 . C T . . ANN=T|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|10/11|c.767+45G>A||||||,T|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|10/11|c.767+45G>A|||||| 22 19443171 . C T . . ANN=T|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|10/11|c.767+32G>A||||||,T|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|10/11|c.767+32G>A|||||| 22 19443268 . T C . . ANN=C|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_005659.6|Coding|10/12|c.702A>G|p.Arg234Arg|832/1783|702/924|234/307||,C|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|10/12|c.702A>G|p.Arg234Arg|832/1730|702/801|234/266|| 22 19443311 . G C . . ANN=C|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|9/11|c.679-20C>G||||||,C|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|9/11|c.679-20C>G|||||| 22 19444181 . G A . . ANN=A|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|8/11|c.631-24C>T||||||,A|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|8/11|c.631-24C>T|||||| 22 19444195 . G A . . ANN=A|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|8/11|c.631-38C>T||||||,A|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|8/11|c.631-38C>T|||||| 22 19445561 . C T . . ANN=T|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|7/11|c.564+33G>A||||||,T|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|7/11|c.564+33G>A|||||| 22 19445576 . C G . . ANN=G|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|7/11|c.564+18G>C||||||,G|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|7/11|c.564+18G>C|||||| 22 19452712 . G C . . ANN=C|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|6/11|c.495+13C>G||||||,C|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|6/11|c.495+13C>G|||||| 22 19455376 . C T . . ANN=T|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|5/11|c.422+20G>A||||||,T|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|5/11|c.422+20G>A|||||| 22 19455430 . G C . . ANN=C|missense_variant|MODERATE|UFD1L|UFD1L|transcript|NM_005659.6|Coding|5/12|c.388C>G|p.Pro130Ala|518/1783|388/924|130/307||,C|missense_variant|MODERATE|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|5/12|c.388C>G|p.Pro130Ala|518/1730|388/801|130/266|| 22 19455497 . G A . . ANN=A|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_005659.6|Coding|5/12|c.321C>T|p.Gly107Gly|451/1783|321/924|107/307||,A|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|5/12|c.321C>T|p.Gly107Gly|451/1730|321/801|107/266|| 22 19459176 . G C . . ANN=C|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|4/11|c.291+34C>G||||||,C|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|4/11|c.291+34C>G|||||| 22 19462668 . A C . . ANN=C|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_005659.6|Coding|2/11|c.137-45T>G||||||,C|intron_variant|MODIFIER|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|2/11|c.137-45T>G|||||| 22 19463060 . G A . . ANN=A|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_005659.6|Coding|2/12|c.69C>T|p.Tyr23Tyr|199/1783|69/924|23/307||,A|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|2/12|c.69C>T|p.Tyr23Tyr|199/1730|69/801|23/266|| 22 19463108 . G A . . ANN=A|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_005659.6|Coding|2/12|c.21C>T|p.Phe7Phe|151/1783|21/924|7/307||,A|synonymous_variant|LOW|UFD1L|UFD1L|transcript|NM_001035247.2|Coding|2/12|c.21C>T|p.Phe7Phe|151/1730|21/801|7/266|| 22 19467462 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|1/20|c.-30G>T|||||30|,T|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|1/18|c.-30G>T|||||30|,T|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|1/19|c.-30G>T|||||30| 22 19467482 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|1/20|c.-10C>A|||||10|,A|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|1/18|c.-10C>A|||||10|,A|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|1/19|c.-10C>A|||||10| 22 19467489 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|1/20|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|1/18|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|1/19|c.-3G>A|||||3| 22 19467510 . C G . . ANN=G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|1/20|c.19C>G|p.Arg7Gly|162/2073|19/1797|7/598||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|1/18|c.19C>G|p.Arg7Gly|162/1839|19/1563|7/520||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|1/19|c.19C>G|p.Arg7Gly|162/1977|19/1701|7/566|| 22 19467652 . T C . . ANN=C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|1/19|c.52-29T>C||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|1/17|c.52-29T>C||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|1/18|c.52-29T>C|||||| 22 19467717 . C T . . ANN=T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|2/20|c.88C>T|p.Leu30Leu|231/2073|88/1797|30/598||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|2/18|c.88C>T|p.Leu30Leu|231/1839|88/1563|30/520||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|2/19|c.88C>T|p.Leu30Leu|231/1977|88/1701|30/566|| 22 19468514 . T C . . ANN=C|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|3/20|c.150T>C|p.Val50Val|293/2073|150/1797|50/598||,C|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|3/18|c.150T>C|p.Val50Val|293/1839|150/1563|50/520||,C|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|3/19|c.150T>C|p.Val50Val|293/1977|150/1701|50/566|| 22 19470201 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|3/19|c.205-12C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|3/17|c.205-1184C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|3/18|c.205-12C>T|||||| 22 19470249 . G A . . ANN=A|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|4/20|c.241G>A|p.Val81Ile|384/2073|241/1797|81/598||,A|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|4/19|c.241G>A|p.Val81Ile|384/1977|241/1701|81/566||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|3/17|c.205-1136G>A|||||| 22 19470305 . C T . . ANN=T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|4/20|c.297C>T|p.Asp99Asp|440/2073|297/1797|99/598||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|4/19|c.297C>T|p.Asp99Asp|440/1977|297/1701|99/566||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|3/17|c.205-1080C>T|||||| 22 19471407 . A G . . ANN=G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|5/20|c.365A>G|p.Asp122Gly|508/2073|365/1797|122/598||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|4/18|c.227A>G|p.Asp76Gly|370/1839|227/1563|76/520||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|5/19|c.365A>G|p.Asp122Gly|508/1977|365/1701|122/566|| 22 19471506 . A G . . ANN=G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|5/20|c.464A>G|p.Glu155Gly|607/2073|464/1797|155/598||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|4/18|c.326A>G|p.Glu109Gly|469/1839|326/1563|109/520||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|5/19|c.464A>G|p.Glu155Gly|607/1977|464/1701|155/566|| 22 19481883 . C T . . ANN=T|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|6/20|c.520C>T|p.Arg174Trp|663/2073|520/1797|174/598||,T|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|5/18|c.382C>T|p.Arg128Trp|525/1839|382/1563|128/520||,T|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|6/19|c.520C>T|p.Arg174Trp|663/1977|520/1701|174/566|| 22 19483472 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|7/19|c.639-32C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|5/17|c.405-32C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|6/18|c.543-32C>T|||||| 22 19483565 . A T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|8/19|c.687+13A>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|6/17|c.453+13A>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|7/18|c.591+13A>T|||||| 22 19483593 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|8/19|c.687+41C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|6/17|c.453+41C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|7/18|c.591+41C>T|||||| 22 19486597 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|9/19|c.750-27C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|7/17|c.516-27C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|8/18|c.654-27C>T|||||| 22 19486598 . G A . . ANN=A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|9/19|c.750-26G>A||||||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|7/17|c.516-26G>A||||||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|8/18|c.654-26G>A|||||| 22 19486600 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|9/19|c.750-24C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|7/17|c.516-24C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|8/18|c.654-24C>T|||||| 22 19486707 . G T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|10/19|c.800+33G>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|8/17|c.566+33G>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|9/18|c.704+33G>T|||||| 22 19492858 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|10/19|c.801-27C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|8/17|c.567-27C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|9/18|c.705-27C>T|||||| 22 19492894 . C T . . ANN=T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|11/20|c.810C>T|p.Tyr270Tyr|953/2073|810/1797|270/598||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|9/18|c.576C>T|p.Tyr192Tyr|719/1839|576/1563|192/520||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|10/19|c.714C>T|p.Tyr238Tyr|857/1977|714/1701|238/566|| 22 19492948 . C T . . ANN=T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|11/20|c.864C>T|p.Asn288Asn|1007/2073|864/1797|288/598||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|9/18|c.630C>T|p.Asn210Asn|773/1839|630/1563|210/520||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|10/19|c.768C>T|p.Asn256Asn|911/1977|768/1701|256/566|| 22 19492987 . G A . . ANN=A|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|11/20|c.903G>A|p.Arg301Arg|1046/2073|903/1797|301/598||,A|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|9/18|c.669G>A|p.Arg223Arg|812/1839|669/1563|223/520||,A|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|10/19|c.807G>A|p.Arg269Arg|950/1977|807/1701|269/566|| 22 19494978 . C T . . ANN=T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|12/20|c.990C>T|p.Ala330Ala|1133/2073|990/1797|330/598||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|10/18|c.756C>T|p.Ala252Ala|899/1839|756/1563|252/520||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|11/19|c.894C>T|p.Ala298Ala|1037/1977|894/1701|298/566|| 22 19496080 . C G . . ANN=G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|14/20|c.1179C>G|p.Phe393Leu|1322/2073|1179/1797|393/598||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|12/18|c.945C>G|p.Phe315Leu|1088/1839|945/1563|315/520||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|13/19|c.1083C>G|p.Phe361Leu|1226/1977|1083/1701|361/566|| 22 19496119 . C T . . ANN=T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|14/20|c.1218C>T|p.Ser406Ser|1361/2073|1218/1797|406/598||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|12/18|c.984C>T|p.Ser328Ser|1127/1839|984/1563|328/520||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|13/19|c.1122C>T|p.Ser374Ser|1265/1977|1122/1701|374/566|| 22 19496123 . G A . . ANN=A|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|14/20|c.1222G>A|p.Val408Met|1365/2073|1222/1797|408/598||,A|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|12/18|c.988G>A|p.Val330Met|1131/1839|988/1563|330/520||,A|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|13/19|c.1126G>A|p.Val376Met|1269/1977|1126/1701|376/566|| 22 19496238 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|14/19|c.1313+24C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|12/17|c.1079+24C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|13/18|c.1217+24C>T|||||| 22 19502238 . G A . . ANN=A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|14/19|c.1314-34G>A||||||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|12/17|c.1080-34G>A||||||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|13/18|c.1218-34G>A|||||| 22 19502300 . C G . . ANN=G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|15/20|c.1342C>G|p.Leu448Val|1485/2073|1342/1797|448/598||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|13/18|c.1108C>G|p.Leu370Val|1251/1839|1108/1563|370/520||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|14/19|c.1246C>G|p.Leu416Val|1389/1977|1246/1701|416/566|| 22 19502445 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|15/19|c.1452+35C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|13/17|c.1218+35C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|14/18|c.1356+35C>T|||||| 22 19502488 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|16/20|c.1453G>A|p.Gly485Ser|1596/2073|1453/1797|485/598||,A|missense_variant&splice_region_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|14/18|c.1219G>A|p.Gly407Ser|1362/1839|1219/1563|407/520||,A|missense_variant&splice_region_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|15/19|c.1357G>A|p.Gly453Ser|1500/1977|1357/1701|453/566|| 22 19502547 . C T . . ANN=T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|16/20|c.1512C>T|p.His504His|1655/2073|1512/1797|504/598||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|14/18|c.1278C>T|p.His426His|1421/1839|1278/1563|426/520||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|15/19|c.1416C>T|p.His472His|1559/1977|1416/1701|472/566|| 22 19502588 . G C . . ANN=C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|16/19|c.1536+17G>C||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|14/17|c.1302+17G>C||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|15/18|c.1440+17G>C|||||| 22 19504134 . A G . . ANN=G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|17/20|c.1621A>G|p.Ile541Val|1764/2073|1621/1797|541/598||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|15/18|c.1387A>G|p.Ile463Val|1530/1839|1387/1563|463/520||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|16/19|c.1525A>G|p.Ile509Val|1668/1977|1525/1701|509/566|| 22 19504186 . G A . . ANN=A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|17/19|c.1655+18G>A||||||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|15/17|c.1421+18G>A||||||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|16/18|c.1559+18G>A|||||| 22 19504192 . G C . . ANN=C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|17/19|c.1655+24G>C||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|15/17|c.1421+24G>C||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|16/18|c.1559+24G>C|||||| 22 19504204 . CG C . . ANN=C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|17/19|c.1655+37delG||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|15/17|c.1421+37delG||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|16/18|c.1559+37delG|||||| 22 19504298 . T C . . ANN=C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|17/19|c.1656-42T>C||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|15/17|c.1422-42T>C||||||,C|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|16/18|c.1560-42T>C|||||| 22 19504318 . G A . . ANN=A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|17/19|c.1656-22G>A||||||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|15/17|c.1422-22G>A||||||,A|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|16/18|c.1560-22G>A|||||| 22 19504319 . A T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|17/19|c.1656-21A>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|15/17|c.1422-21A>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|16/18|c.1560-21A>T|||||| 22 19504328 . G T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|17/19|c.1656-12G>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|15/17|c.1422-12G>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|16/18|c.1560-12G>T|||||| 22 19504355 . G T . . ANN=T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178010.2|Coding|18/20|c.1671G>T|p.Ala557Ala|1814/2073|1671/1797|557/598||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_001178011.2|Coding|16/18|c.1437G>T|p.Ala479Ala|1580/1839|1437/1563|479/520||,T|synonymous_variant|LOW|CDC45|CDC45|transcript|NM_003504.4|Coding|17/19|c.1575G>T|p.Ala525Ala|1718/1977|1575/1701|525/566|| 22 19504398 . A G . . ANN=G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178010.2|Coding|18/20|c.1714A>G|p.Asn572Asp|1857/2073|1714/1797|572/598||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_001178011.2|Coding|16/18|c.1480A>G|p.Asn494Asp|1623/1839|1480/1563|494/520||,G|missense_variant|MODERATE|CDC45|CDC45|transcript|NM_003504.4|Coding|17/19|c.1618A>G|p.Asn540Asp|1761/1977|1618/1701|540/566|| 22 19506344 . C G . . ANN=G|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|18/19|c.1733-23C>G||||||,G|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|16/17|c.1499-23C>G||||||,G|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|17/18|c.1637-23C>G|||||| 22 19506456 . G T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|19/19|c.*1+24G>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|17/17|c.*1+24G>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|18/18|c.*1+24G>T|||||| 22 19506476 . C T . . ANN=T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178010.2|Coding|19/19|c.*1+44C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_001178011.2|Coding|17/17|c.*1+44C>T||||||,T|intron_variant|MODIFIER|CDC45|CDC45|transcript|NM_003504.4|Coding|18/18|c.*1+44C>T|||||| 22 19511103 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CLDN5|CLDN5|transcript|NM_001130861.1|Coding|1/1|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|CLDN5|CLDN5|transcript|NM_003277.3|Coding|2/2|c.*19G>A|||||19| 22 19511229 . C T . . ANN=T|missense_variant|MODERATE|CLDN5|CLDN5|transcript|NM_001130861.1|Coding|1/1|c.805G>A|p.Gly269Ser|1632/2314|805/912|269/303||,T|missense_variant|MODERATE|CLDN5|CLDN5|transcript|NM_003277.3|Coding|2/2|c.805G>A|p.Gly269Ser|1020/1702|805/912|269/303|| 22 19511476 . G A . . ANN=A|synonymous_variant|LOW|CLDN5|CLDN5|transcript|NM_001130861.1|Coding|1/1|c.558C>T|p.Gly186Gly|1385/2314|558/912|186/303||,A|synonymous_variant|LOW|CLDN5|CLDN5|transcript|NM_003277.3|Coding|2/2|c.558C>T|p.Gly186Gly|773/1702|558/912|186/303|| 22 19511479 . C T . . ANN=T|synonymous_variant|LOW|CLDN5|CLDN5|transcript|NM_001130861.1|Coding|1/1|c.555G>A|p.Ala185Ala|1382/2314|555/912|185/303||,T|synonymous_variant|LOW|CLDN5|CLDN5|transcript|NM_003277.3|Coding|2/2|c.555G>A|p.Ala185Ala|770/1702|555/912|185/303|| 22 19511515 . C T . . ANN=T|synonymous_variant|LOW|CLDN5|CLDN5|transcript|NM_001130861.1|Coding|1/1|c.519G>A|p.Val173Val|1346/2314|519/912|173/303||,T|synonymous_variant|LOW|CLDN5|CLDN5|transcript|NM_003277.3|Coding|2/2|c.519G>A|p.Val173Val|734/1702|519/912|173/303|| 22 19511520 . C T . . ANN=T|missense_variant|MODERATE|CLDN5|CLDN5|transcript|NM_001130861.1|Coding|1/1|c.514G>A|p.Ala172Thr|1341/2314|514/912|172/303||,T|missense_variant|MODERATE|CLDN5|CLDN5|transcript|NM_003277.3|Coding|2/2|c.514G>A|p.Ala172Thr|729/1702|514/912|172/303|| 22 19511539 . C T . . ANN=T|synonymous_variant|LOW|CLDN5|CLDN5|transcript|NM_001130861.1|Coding|1/1|c.495G>A|p.Ala165Ala|1322/2314|495/912|165/303||,T|synonymous_variant|LOW|CLDN5|CLDN5|transcript|NM_003277.3|Coding|2/2|c.495G>A|p.Ala165Ala|710/1702|495/912|165/303|| 22 19511780 . G C . . ANN=C|missense_variant|MODERATE|CLDN5|CLDN5|transcript|NM_001130861.1|Coding|1/1|c.254C>G|p.Ala85Gly|1081/2314|254/912|85/303||,C|missense_variant|MODERATE|CLDN5|CLDN5|transcript|NM_003277.3|Coding|2/2|c.254C>G|p.Ala85Gly|469/1702|254/912|85/303|| 22 19702274 . C T . . ANN=T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|1/11|c.44-30C>T|||||| 22 19707076 . G A . . ANN=A|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|2/11|c.55-49G>A||||||,A|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|1/11|n.1600-49G>A||||||,A|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|1/10|c.82-49G>A||||||,A|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|1/11|n.104-49G>A|||||| 22 19707096 . G A . . ANN=A|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|2/11|c.55-29G>A||||||,A|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|1/11|n.1600-29G>A||||||,A|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|1/10|c.82-29G>A||||||,A|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|1/11|n.104-29G>A|||||| 22 19707112 . A G . . ANN=G|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|2/11|c.55-13A>G||||||,G|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|1/11|n.1600-13A>G||||||,G|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|1/10|c.82-13A>G||||||,G|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|1/11|n.104-13A>G|||||| 22 19707280 . C T . . ANN=T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|3/11|c.152-49C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|2/11|n.1697-49C>T||||||,T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|2/10|c.179-49C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|2/11|n.201-49C>T|||||| 22 19707435 . C T . . ANN=T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|4/11|c.238+20C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|3/11|n.1783+20C>T||||||,T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|3/10|c.265+20C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|3/11|n.287+20C>T|||||| 22 19707596 . C CT . . ANN=CT|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|4/11|c.239-42_239-41insT||||||,CT|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|3/11|n.1784-42_1784-41insT||||||,CT|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|3/10|c.266-42_266-41insT||||||,CT|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|3/11|n.288-42_288-41insT|||||| 22 19707622 . G A . . ANN=A|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|4/11|c.239-16G>A||||||,A|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|3/11|n.1784-16G>A||||||,A|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|3/10|c.266-16G>A||||||,A|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|3/11|n.288-16G>A|||||| 22 19707757 . G A . . ANN=A|missense_variant|MODERATE|SEPT5|SEPT5|transcript|NM_002688.5|Coding|5/12|c.358G>A|p.Glu120Lys|483/2073|358/1110|120/369||,A|missense_variant|MODERATE|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|4/11|c.385G>A|p.Glu129Lys|688/2267|385/1041|129/346||,A|non_coding_exon_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|4/12|n.1903G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|4/12|n.407G>A|||||| 22 19707797 . C T . . ANN=T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|5/11|c.362+36C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|4/11|n.1907+36C>T||||||,T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|4/10|c.389+36C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|4/11|n.411+36C>T|||||| 22 19707803 . C CA . . ANN=CA|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|5/11|c.363-40_363-39insA||||||,CA|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|4/11|n.1908-40_1908-39insA||||||,CA|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|4/10|c.390-40_390-39insA||||||,CA|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|4/11|n.412-40_412-39insA|||||| 22 19707810 . C T . . ANN=T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|5/11|c.363-33C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|4/11|n.1908-33C>T||||||,T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|4/10|c.390-33C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|4/11|n.412-33C>T|||||| 22 19708074 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|SEPT5|SEPT5|transcript|NM_002688.5|Coding|7/12|c.500T>C|p.Leu167Pro|625/2073|500/1110|167/369||,C|missense_variant&splice_region_variant|MODERATE|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|6/11|c.527T>C|p.Leu176Pro|830/2267|527/1041|176/346||,C|splice_region_variant&non_coding_exon_variant|LOW|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|6/12|n.2045T>C||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|6/12|n.549T>C|||||| 22 19708247 . G A . . ANN=A|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|7/11|c.616-44G>A||||||,A|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|6/11|n.2161-44G>A||||||,A|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|6/10|c.643-44G>A||||||,A|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|6/11|n.665-44G>A|||||| 22 19708374 . G A . . ANN=A|synonymous_variant|LOW|SEPT5|SEPT5|transcript|NM_002688.5|Coding|8/12|c.699G>A|p.Gln233Gln|824/2073|699/1110|233/369||,A|synonymous_variant|LOW|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|7/11|c.726G>A|p.Gln242Gln|1029/2267|726/1041|242/346||,A|non_coding_exon_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|7/12|n.2244G>A||||||,A|non_coding_exon_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|7/12|n.748G>A|||||| 22 19708414 . G T . . ANN=T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|8/11|c.717+22G>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|7/11|n.2262+22G>T||||||,T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|7/10|c.744+22G>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|7/11|n.766+22G>T|||||| 22 19709460 . C G . . ANN=G|missense_variant|MODERATE|SEPT5|SEPT5|transcript|NM_002688.5|Coding|10/12|c.930C>G|p.His310Gln|1055/2073|930/1110|310/369||,G|missense_variant|MODERATE|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|9/11|c.946C>G|p.Leu316Val|1249/2267|946/1041|316/346||,G|non_coding_exon_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|9/12|n.2475C>G||||||,G|non_coding_exon_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|9/12|n.979C>G|||||| 22 19709741 . T TC . . ANN=TC|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|10/11|c.951-19_951-18insC||||||,TC|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|9/11|n.2496-19_2496-18insC||||||,TC|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|9/10|c.967-19_967-18insC||||||,TC|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|9/11|n.1000-19_1000-18insC|||||| 22 19709748 . C T . . ANN=T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|10/11|c.951-12C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|9/11|n.2496-12C>T||||||,T|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|9/10|c.967-12C>T||||||,T|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|9/11|n.1000-12C>T|||||| 22 19709868 . TGGGGCGGCG T . . ANN=T|splice_region_variant&intron_variant|LOW|SEPT5|SEPT5|transcript|NM_002688.5|Coding|11/11|c.1053+7_1053+15delGGGGCGGCG||||||,T|splice_region_variant&intron_variant|LOW|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|10/11|n.2598+7_2598+15delGGGGCGGCG||||||,T|splice_region_variant&intron_variant|LOW|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|10/10|c.*28+7_*28+15delGGGGCGGCG||||||,T|splice_region_variant&intron_variant|LOW|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|10/11|n.1102+7_1102+15delGGGGCGGCG|||||| 22 19709909 . CT C . . ANN=C|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_002688.5|Coding|11/11|c.1054-41delT||||||,C|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|10/11|n.2599-41delT||||||,C|intron_variant|MODIFIER|SEPT5|SEPT5|transcript|NM_001009939.2|Coding|10/10|c.*29-41delT||||||,C|intron_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|10/11|n.1103-41delT|||||| 22 19711493 . G T . . ANN=T|missense_variant|MODERATE|GP1BB|GP1BB|transcript|NM_000407.4|Coding|2/2|c.127G>T|p.Gly43Trp|154/958|127/621|43/206||,T|non_coding_exon_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037611.1|Noncoding|12/12|n.3867G>T||||||,T|non_coding_exon_variant|MODIFIER|SEPT5-GP1BB|SEPT5-GP1BB|transcript|NR_037612.1|Noncoding|12/12|n.2371G>T|||||| 22 19747128 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|2/9|c.-39C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|2/9|c.-39C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|2/10|c.-39C>T||||||,T|5_prime_UTR_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|2/9|c.-39C>T|||||39|,T|5_prime_UTR_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|2/9|c.-39C>T|||||39|,T|5_prime_UTR_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|2/10|c.-39C>T|||||39| 22 19747164 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|2/9|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|2/9|c.-3G>A|||||3|,A|5_prime_UTR_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|2/10|c.-3G>A|||||3| 22 19748690 . G A . . ANN=A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|3/9|c.297G>A|p.Ala99Ala|426/2082|297/1488|99/495||,A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|3/9|c.297G>A|p.Ala99Ala|426/1464|297/1197|99/398||,A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|3/10|c.297G>A|p.Ala99Ala|426/1534|297/1119|99/372|| 22 19748695 . TGAA T . . ANN=|disruptive_inframe_deletion|MODERATE|TBX1|TBX1|transcript|NM_080647.1|Coding|3/9|c.309_311delGAA|p.Lys103del|438/2082|309/1488|103/495||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|TBX1|TBX1|transcript|NM_080646.1|Coding|3/9|c.309_311delGAA|p.Lys103del|438/1464|309/1197|103/398||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|TBX1|TBX1|transcript|NM_005992.1|Coding|3/10|c.309_311delGAA|p.Lys103del|438/1534|309/1119|103/372||INFO_REALIGN_3_PRIME 22 19748714 . G A . . ANN=A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|3/9|c.321G>A|p.Val107Val|450/2082|321/1488|107/495||,A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|3/9|c.321G>A|p.Val107Val|450/1464|321/1197|107/398||,A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|3/10|c.321G>A|p.Val107Val|450/1534|321/1119|107/372|| 22 19750773 . T C . . ANN=C|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|4/9|c.420T>C|p.Phe140Phe|549/2082|420/1488|140/495||,C|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|4/9|c.420T>C|p.Phe140Phe|549/1464|420/1197|140/398||,C|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|4/10|c.420T>C|p.Phe140Phe|549/1534|420/1119|140/372|| 22 19750797 . C T . . ANN=T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|4/9|c.444C>T|p.Phe148Phe|573/2082|444/1488|148/495||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|4/9|c.444C>T|p.Phe148Phe|573/1464|444/1197|148/398||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|4/10|c.444C>T|p.Phe148Phe|573/1534|444/1119|148/372|| 22 19750845 . G A . . ANN=A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|4/9|c.492G>A|p.Pro164Pro|621/2082|492/1488|164/495||,A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|4/9|c.492G>A|p.Pro164Pro|621/1464|492/1197|164/398||,A|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|4/10|c.492G>A|p.Pro164Pro|621/1534|492/1119|164/372|| 22 19750906 . C A . . ANN=A|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|4/8|c.512+41C>A||||||,A|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|4/8|c.512+41C>A||||||,A|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|4/9|c.512+41C>A|||||| 22 19751654 . C T . . ANN=T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|4/8|c.513-24C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|4/8|c.513-24C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|4/9|c.513-24C>T|||||| 22 19751665 . C T . . ANN=T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|4/8|c.513-13C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|4/8|c.513-13C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|4/9|c.513-13C>T|||||| 22 19751670 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|4/8|c.513-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|4/8|c.513-8C>T||||||,T|splice_region_variant&intron_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|4/9|c.513-8C>T|||||| 22 19751696 . C T . . ANN=T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|5/9|c.531C>T|p.Ser177Ser|660/2082|531/1488|177/495||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|5/9|c.531C>T|p.Ser177Ser|660/1464|531/1197|177/398||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|5/10|c.531C>T|p.Ser177Ser|660/1534|531/1119|177/372|| 22 19751829 . C T . . ANN=T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|5/9|c.664C>T|p.Leu222Leu|793/2082|664/1488|222/495||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|5/9|c.664C>T|p.Leu222Leu|793/1464|664/1197|222/398||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|5/10|c.664C>T|p.Leu222Leu|793/1534|664/1119|222/372|| 22 19751892 . C T . . ANN=T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|5/8|c.684+43C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|5/8|c.684+43C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|5/9|c.684+43C>T|||||| 22 19752522 . C T . . ANN=T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|6/9|c.726C>T|p.His242His|855/2082|726/1488|242/495||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|6/9|c.726C>T|p.His242His|855/1464|726/1197|242/398||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|6/10|c.726C>T|p.His242His|855/1534|726/1119|242/372|| 22 19752609 . C T . . ANN=T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|6/9|c.813C>T|p.Thr271Thr|942/2082|813/1488|271/495||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|6/9|c.813C>T|p.Thr271Thr|942/1464|813/1197|271/398||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|6/10|c.813C>T|p.Thr271Thr|942/1534|813/1119|271/372|| 22 19752610 . G T . . ANN=T|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080647.1|Coding|6/9|c.814G>T|p.Ala272Ser|943/2082|814/1488|272/495||,T|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080646.1|Coding|6/9|c.814G>T|p.Ala272Ser|943/1464|814/1197|272/398||,T|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_005992.1|Coding|6/10|c.814G>T|p.Ala272Ser|943/1534|814/1119|272/372|| 22 19753233 . C T . . ANN=T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|6/8|c.841-48C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|6/8|c.841-48C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|6/9|c.841-48C>T|||||| 22 19753374 . A C . . ANN=C|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|7/8|c.908+26A>C||||||,C|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|7/8|c.908+26A>C||||||,C|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|7/9|c.908+26A>C|||||| 22 19753379 . C T . . ANN=T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|7/8|c.908+31C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|7/8|c.908+31C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|7/9|c.908+31C>T|||||| 22 19753401 . C A . . ANN=A|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080647.1|Coding|7/8|c.909-24C>A||||||,A|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|7/8|c.909-24C>A||||||,A|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|7/9|c.909-24C>A|||||| 22 19753443 . C T . . ANN=T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|8/9|c.927C>T|p.Pro309Pro|1056/2082|927/1488|309/495||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|8/9|c.927C>T|p.Pro309Pro|1056/1464|927/1197|309/398||,T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_005992.1|Coding|8/10|c.927C>T|p.Pro309Pro|1056/1534|927/1119|309/372|| 22 19753444 . G A . . ANN=A|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080647.1|Coding|8/9|c.928G>A|p.Gly310Ser|1057/2082|928/1488|310/495||,A|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080646.1|Coding|8/9|c.928G>A|p.Gly310Ser|1057/1464|928/1197|310/398||,A|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_005992.1|Coding|8/10|c.928G>A|p.Gly310Ser|1057/1534|928/1119|310/372|| 22 19754091 . A C . . ANN=C|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080647.1|Coding|9/9|c.1189A>C|p.Asn397His|1318/2082|1189/1488|397/495||,C|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|8/8|c.1009+566A>C||||||,C|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1009+566A>C|||||| 22 19754117 . C T . . ANN=T|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080647.1|Coding|9/9|c.1215C>T|p.Pro405Pro|1344/2082|1215/1488|405/495||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|8/8|c.1009+592C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1009+592C>T|||||| 22 19754211 . C T . . ANN=T|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080647.1|Coding|9/9|c.1309C>T|p.Pro437Ser|1438/2082|1309/1488|437/495||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|8/8|c.1009+686C>T||||||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1009+686C>T|||||| 22 19766701 . A G . . ANN=G|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|8/8|c.1010-42A>G||||||,G|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1010-3735A>G|||||| 22 19766730 . G A . . ANN=A|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|8/8|c.1010-13G>A||||||,A|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1010-3706G>A|||||| 22 19766782 . C T . . ANN=T|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080646.1|Coding|9/9|c.1049C>T|p.Thr350Met|1178/1464|1049/1197|350/398||,T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1010-3654C>T|||||| 22 19766797 . C G . . ANN=G|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080646.1|Coding|9/9|c.1064C>G|p.Pro355Arg|1193/1464|1064/1197|355/398||,G|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1010-3639C>G|||||| 22 19766809 . T C . . ANN=C|missense_variant|MODERATE|TBX1|TBX1|transcript|NM_080646.1|Coding|9/9|c.1076T>C|p.Val359Ala|1205/1464|1076/1197|359/398||,C|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1010-3627T>C|||||| 22 19766828 . A G . . ANN=G|synonymous_variant|LOW|TBX1|TBX1|transcript|NM_080646.1|Coding|9/9|c.1095A>G|p.Ala365Ala|1224/1464|1095/1197|365/398||,G|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1010-3608A>G|||||| 22 19766954 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|TBX1|TBX1|transcript|NM_080646.1|Coding|9/9|c.*24C>G|||||24|,G|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|8/9|c.1010-3482C>G|||||| 22 19770436 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TBX1|TBX1|transcript|NM_005992.1|Coding|9/10|c.1010G>A|p.Gly337Glu|1139/1534|1010/1119|337/372|| 22 19770566 . C T . . ANN=T|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|9/9|c.*10+11C>T|||||| 22 19770584 . T C . . ANN=C|intron_variant|MODIFIER|TBX1|TBX1|transcript|NM_005992.1|Coding|9/9|c.*10+29T>C|||||| 22 19776245 . TAG T . . ANN=T|frameshift_variant|HIGH|GNB1L|GNB1L|transcript|NM_053004.2|Coding|8/8|c.969_970delCT|p.Leu323fs|1207/1519|969/984|323/327|| 22 19776348 . C A . . ANN=A|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|8/8|c.868G>T|p.Val290Leu|1105/1519|868/984|290/327|| 22 19776365 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|8/8|c.851C>T|p.Thr284Met|1088/1519|851/984|284/327|| 22 19776382 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|GNB1L|transcript|NM_053004.2|Coding|8/8|c.834C>T|p.Arg278Arg|1071/1519|834/984|278/327|| 22 19776389 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|8/8|c.827G>A|p.Arg276His|1064/1519|827/984|276/327|| 22 19776406 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|GNB1L|transcript|NM_053004.2|Coding|8/8|c.810C>T|p.Thr270Thr|1047/1519|810/984|270/327|| 22 19776444 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|8/8|c.772G>A|p.Glu258Lys|1009/1519|772/984|258/327|| 22 19776500 . A AG . . ANN=AG|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|7/7|c.733-18_733-17insC|||||| 22 19789541 . A C . . ANN=C|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|7/8|c.715T>G|p.Trp239Gly|952/1519|715/984|239/327|| 22 19789627 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|7/8|c.629C>T|p.Pro210Leu|866/1519|629/984|210/327|| 22 19789649 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|7/8|c.607C>T|p.Arg203Cys|844/1519|607/984|203/327|| 22 19789723 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|7/8|c.533G>A|p.Arg178His|770/1519|533/984|178/327|| 22 19794176 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GNB1L|GNB1L|transcript|NM_053004.2|Coding|6/7|c.516+6G>A|||||| 22 19799859 . G C . . ANN=C|synonymous_variant|LOW|GNB1L|GNB1L|transcript|NM_053004.2|Coding|5/8|c.366C>G|p.Ala122Ala|603/1519|366/984|122/327|| 22 19799875 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|5/8|c.350G>A|p.Arg117Gln|587/1519|350/984|117/327|| 22 19799963 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|5/8|c.262C>T|p.Arg88Trp|499/1519|262/984|88/327|| 22 19808167 . A G . . ANN=G|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|4/8|c.208T>C|p.Cys70Arg|445/1519|208/984|70/327|| 22 19808177 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|GNB1L|transcript|NM_053004.2|Coding|4/8|c.198C>T|p.His66His|435/1519|198/984|66/327|| 22 19808205 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|4/8|c.170G>A|p.Arg57Gln|407/1519|170/984|57/327|| 22 19808769 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|3/8|c.110G>A|p.Arg37His|347/1519|110/984|37/327|| 22 19808791 . C T . . ANN=T|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|3/8|c.88G>A|p.Glu30Lys|325/1519|88/984|30/327|| 22 19808792 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|GNB1L|transcript|NM_053004.2|Coding|3/8|c.87C>T|p.Cys29Cys|324/1519|87/984|29/327|| 22 19808805 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|3/8|c.74C>T|p.Ala25Val|311/1519|74/984|25/327|| 22 19808813 . C T . . ANN=T|synonymous_variant|LOW|GNB1L|GNB1L|transcript|NM_053004.2|Coding|3/8|c.66G>A|p.Pro22Pro|303/1519|66/984|22/327|| 22 19808822 . G A . . ANN=A|synonymous_variant|LOW|GNB1L|GNB1L|transcript|NM_053004.2|Coding|3/8|c.57C>T|p.Thr19Thr|294/1519|57/984|19/327|| 22 19808859 . G C . . ANN=C|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|3/8|c.20C>G|p.Pro7Arg|257/1519|20/984|7/327|| 22 19808874 . G A . . ANN=A|missense_variant|MODERATE|GNB1L|GNB1L|transcript|NM_053004.2|Coding|3/8|c.5C>T|p.Thr2Met|242/1519|5/984|2/327|| 22 19838729 . C T . . ANN=T|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.1056G>A|p.Pro352Pro|1567/6635|1056/1095|352/364||,T|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+3237G>A|||||| 22 19838873 . C T . . ANN=T|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.912G>A|p.Ser304Ser|1423/6635|912/1095|304/364||,T|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+3093G>A|||||| 22 19838891 . T A . . ANN=A|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.894A>T|p.Thr298Thr|1405/6635|894/1095|298/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+3075A>T|||||| 22 19838915 . G T . . ANN=T|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.870C>A|p.Ser290Ser|1381/6635|870/1095|290/364||,T|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+3051C>A|||||| 22 19839019 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.766G>A|p.Glu256Lys|1277/6635|766/1095|256/364||,T|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2947G>A|||||| 22 19839113 . T C . . ANN=C|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.672A>G|p.Ala224Ala|1183/6635|672/1095|224/364||,C|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2853A>G|||||| 22 19839241 . G C . . ANN=C|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.544C>G|p.Pro182Ala|1055/6635|544/1095|182/364||,C|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2725C>G|||||| 22 19839274 . A G . . ANN=G|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.511T>C|p.Phe171Leu|1022/6635|511/1095|171/364||,G|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2692T>C|||||| 22 19839281 . G A . . ANN=A|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.504C>T|p.Tyr168Tyr|1015/6635|504/1095|168/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2685C>T|||||| 22 19839286 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.499G>A|p.Asp167Asn|1010/6635|499/1095|167/364||,T|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2680G>A|||||| 22 19839293 . C G . . ANN=G|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.492G>C|p.Leu164Leu|1003/6635|492/1095|164/364||,G|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2673G>C|||||| 22 19839351 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.434G>A|p.Arg145His|945/6635|434/1095|145/364||,T|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2615G>A|||||| 22 19839352 . G A . . ANN=A|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.433C>T|p.Arg145Cys|944/6635|433/1095|145/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2614C>T|||||| 22 19839355 . T C . . ANN=C|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.430A>G|p.Arg144Gly|941/6635|430/1095|144/364||,C|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2611A>G|||||| 22 19839365 . G A . . ANN=A|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.420C>T|p.Cys140Cys|931/6635|420/1095|140/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2601C>T|||||| 22 19839378 . ATGT A . . ANN=A|disruptive_inframe_deletion|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.404_406delACA|p.Asn135del|917/6635|404/1095|135/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2585_-21+2587delACA|||||| 22 19839418 . C A . . ANN=A|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.367G>T|p.Asp123Tyr|878/6635|367/1095|123/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2548G>T|||||| 22 19839438 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.347G>A|p.Arg116His|858/6635|347/1095|116/364||,T|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2528G>A|||||| 22 19839453 . G A . . ANN=A|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.332C>T|p.Pro111Leu|843/6635|332/1095|111/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2513C>T|||||| 22 19839467 . G A . . ANN=A|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.318C>T|p.Thr106Thr|829/6635|318/1095|106/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2499C>T|||||| 22 19839516 . C T . . ANN=T|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.269G>A|p.Arg90Gln|780/6635|269/1095|90/364||,T|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2450G>A|||||| 22 19839517 . G A . . ANN=A|stop_gained|HIGH|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.268C>T|p.Arg90*|779/6635|268/1095|90/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2449C>T|||||| 22 19839523 . T C . . ANN=C|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.262A>G|p.Ser88Gly|773/6635|262/1095|88/364||,C|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2443A>G|||||| 22 19839566 . G A . . ANN=A|synonymous_variant|LOW|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.219C>T|p.Gly73Gly|730/6635|219/1095|73/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2400C>T|||||| 22 19839606 . G A . . ANN=A|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.179C>T|p.Thr60Met|690/6635|179/1095|60/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2360C>T|||||| 22 19839727 . T A . . ANN=A|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.58A>T|p.Asn20Tyr|569/6635|58/1095|20/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2239A>T|||||| 22 19839757 . CCTG C . . ANN=C|inframe_deletion|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.25_27delCAG|p.Gln9del|538/6635|25/1095|9/364||,C|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2206_-21+2208delCAG|||||| 22 19839761 . C A . . ANN=A|missense_variant|MODERATE|C22orf29|C22orf29|transcript|NM_024627.5|Coding|3/3|c.24G>T|p.Gln8His|535/6635|24/1095|8/364||,A|intron_variant|MODIFIER|GNB1L|GNB1L|transcript|NM_053004.2|Coding|2/7|c.-21+2205G>T|||||| 22 19864649 . C T . . ANN=T|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|17/18|c.1554G>A|p.Thr518Thr|1743/2119|1554/1575|518/524|| 22 19864669 . G A . . ANN=A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|17/18|c.1534C>T|p.Arg512Cys|1723/2119|1534/1575|512/524|| 22 19864680 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|17/18|c.1523G>A|p.Arg508His|1712/2119|1523/1575|508/524|| 22 19864729 . G A . . ANN=A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|17/18|c.1474C>T|p.Arg492Trp|1663/2119|1474/1575|492/524|| 22 19865595 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|16/17|c.1445+18C>T|||||| 22 19865606 . GACTT G . . ANN=G|splice_region_variant&intron_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|16/17|c.1445+3_1445+6delAAGT|||||| 22 19865651 . G C . . ANN=C|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|16/18|c.1407C>G|p.Asn469Lys|1596/2119|1407/1575|469/524|| 22 19865759 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|15/17|c.1348-49C>T|||||| 22 19865869 . T C . . ANN=C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|15/17|c.1347+20A>G|||||| 22 19867658 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|14/17|c.1275+44C>T|||||| 22 19867744 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|14/18|c.1233C>T|p.Ser411Ser|1422/2119|1233/1575|411/524|| 22 19867771 . C T . . ANN=T|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|14/18|c.1206G>A|p.Pro402Pro|1395/2119|1206/1575|402/524|| 22 19867810 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/17|c.1183-16C>T|||||| 22 19867818 . G C . . ANN=C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/17|c.1183-24C>G|||||| 22 19868096 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/17|c.1182+49C>T|||||| 22 19868177 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/18|c.1150G>A|p.Gly384Ser|1339/2119|1150/1575|384/524|| 22 19868190 . C G . . ANN=G|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/18|c.1137G>C|p.Val379Val|1326/2119|1137/1575|379/524|| 22 19868215 . G A . . ANN=A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/18|c.1112C>T|p.Ala371Val|1301/2119|1112/1575|371/524|| 22 19868218 . A G . . ANN=G|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/18|c.1109T>C|p.Ile370Thr|1298/2119|1109/1575|370/524|| 22 19868228 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/18|c.1099C>T|p.Leu367Leu|1288/2119|1099/1575|367/524|| 22 19868236 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|13/18|c.1091G>A|p.Arg364Gln|1280/2119|1091/1575|364/524|| 22 19868255 . AG A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|12/17|c.1087-16delC|||||| 22 19868262 . C G . . ANN=G|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|12/17|c.1087-22G>C|||||| 22 19870831 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|12/17|c.1086+17G>A|||||| 22 19870857 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|12/18|c.1077C>T|p.Asp359Asp|1266/2119|1077/1575|359/524|| 22 19870897 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|12/18|c.1037G>A|p.Arg346Gln|1226/2119|1037/1575|346/524|| 22 19870918 . T A . . ANN=A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|12/18|c.1016A>T|p.Gln339Leu|1205/2119|1016/1575|339/524|| 22 19871018 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|11/17|c.950-34G>A|||||| 22 19882888 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|11/17|c.949+42C>T||||||,A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|11/11|c.949+42C>T|||||| 22 19882946 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|11/18|c.933C>T|p.Thr311Thr|1122/2119|933/1575|311/524||,A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|11/12|c.933C>T|p.Thr311Thr|1122/2081|933/1017|311/338|| 22 19882976 . G T . . ANN=T|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|11/18|c.903C>A|p.Thr301Thr|1092/2119|903/1575|301/524||,T|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|11/12|c.903C>A|p.Thr301Thr|1092/2081|903/1017|301/338|| 22 19882984 . T G . . ANN=G|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|11/18|c.895A>C|p.Ser299Arg|1084/2119|895/1575|299/524||,G|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|11/12|c.895A>C|p.Ser299Arg|1084/2081|895/1017|299/338|| 22 19883032 . G A . . ANN=A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|11/18|c.847C>T|p.Arg283Trp|1036/2119|847/1575|283/524||,A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|11/12|c.847C>T|p.Arg283Trp|1036/2081|847/1017|283/338|| 22 19883042 . A G . . ANN=G|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|11/18|c.837T>C|p.Cys279Cys|1026/2119|837/1575|279/524||,G|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|11/12|c.837T>C|p.Cys279Cys|1026/2081|837/1017|279/338|| 22 19883063 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|11/18|c.816C>T|p.Gly272Gly|1005/2119|816/1575|272/524||,A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|11/12|c.816C>T|p.Gly272Gly|1005/2081|816/1017|272/338|| 22 19883123 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|10/17|c.775-19G>A||||||,T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|10/11|c.775-19G>A|||||| 22 19885548 . G T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|10/17|c.774+14C>A||||||,T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|10/11|c.774+14C>A|||||| 22 19885573 . C G . . ANN=G|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|10/18|c.763G>C|p.Gly255Arg|952/2119|763/1575|255/524||,G|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|10/12|c.763G>C|p.Gly255Arg|952/2081|763/1017|255/338|| 22 19885574 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|10/18|c.762C>T|p.Arg254Arg|951/2119|762/1575|254/524||,A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|10/12|c.762C>T|p.Arg254Arg|951/2081|762/1017|254/338|| 22 19886557 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|9/17|c.682+15C>T||||||,A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|9/11|c.682+15C>T|||||| 22 19898877 . C A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|8/17|c.662+23G>T||||||,A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|8/11|c.662+23G>T|||||| 22 19898886 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|8/17|c.662+14G>A||||||,T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|8/11|c.662+14G>A|||||| 22 19898887 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|8/17|c.662+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|8/11|c.662+13C>T|||||| 22 19898912 . G T . . ANN=T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|8/18|c.650C>A|p.Ser217Tyr|839/2119|650/1575|217/524||,T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|8/12|c.650C>A|p.Ser217Tyr|839/2081|650/1017|217/338|| 22 19898997 . A G . . ANN=G|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|7/17|c.592-27T>C||||||,G|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|7/11|c.592-27T>C|||||| 22 19902718 . AT A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|7/17|c.591+18delA||||||,A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|7/11|c.591+18delA|||||| 22 19902805 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|6/17|c.529-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|6/11|c.529-6C>T|||||| 22 19902833 . A C . . ANN=C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|6/17|c.529-34T>G||||||,C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|6/11|c.529-34T>G|||||| 22 19902840 . T C . . ANN=C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|6/17|c.529-41A>G||||||,C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|6/11|c.529-41A>G|||||| 22 19903267 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|6/17|c.528+21C>T||||||,A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|6/11|c.528+21C>T|||||| 22 19903290 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|6/18|c.526G>C|p.Glu176Gln|715/2119|526/1575|176/524||,G|missense_variant&splice_region_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|6/12|c.526G>C|p.Glu176Gln|715/2081|526/1017|176/338|| 22 19903311 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|6/18|c.505G>A|p.Gly169Ser|694/2119|505/1575|169/524||,T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|6/12|c.505G>A|p.Gly169Ser|694/2081|505/1017|169/338|| 22 19903354 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|6/18|c.462C>T|p.Tyr154Tyr|651/2119|462/1575|154/524||,A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|6/12|c.462C>T|p.Tyr154Tyr|651/2081|462/1017|154/338|| 22 19905710 . G C . . ANN=C|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|5/18|c.405C>G|p.His135Gln|594/2119|405/1575|135/524||,C|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|5/12|c.405C>G|p.His135Gln|594/2081|405/1017|135/338|| 22 19905748 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/17|c.375-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/11|c.375-8C>T|||||| 22 19905759 . A C . . ANN=C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/17|c.375-19T>G||||||,C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/11|c.375-19T>G|||||| 22 19905781 . G C . . ANN=C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/17|c.375-41C>G||||||,C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/11|c.375-41C>G|||||| 22 19906366 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/17|c.374+17G>A||||||,T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/11|c.374+17G>A|||||| 22 19906367 . G T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/17|c.374+16C>A||||||,T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/11|c.374+16C>A|||||| 22 19906370 . G A . . ANN=A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/17|c.374+13C>T||||||,A|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/11|c.374+13C>T|||||| 22 19906391 . C T . . ANN=T|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/18|c.366G>A|p.Pro122Pro|555/2119|366/1575|122/524||,T|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/12|c.366G>A|p.Pro122Pro|555/2081|366/1017|122/338|| 22 19906454 . T C . . ANN=C|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/18|c.303A>G|p.Ala101Ala|492/2119|303/1575|101/524||,C|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/12|c.303A>G|p.Ala101Ala|492/2081|303/1017|101/338|| 22 19906498 . C T . . ANN=T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/18|c.259G>A|p.Val87Ile|448/2119|259/1575|87/524||,T|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/12|c.259G>A|p.Val87Ile|448/2081|259/1017|87/338|| 22 19906511 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|4/18|c.246C>T|p.Leu82Leu|435/2119|246/1575|82/524||,A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|4/12|c.246C>T|p.Leu82Leu|435/2081|246/1017|82/338|| 22 19907042 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|3/17|c.229+24G>A||||||,T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|3/11|c.229+24G>A|||||| 22 19907085 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|3/18|c.210C>T|p.Tyr70Tyr|399/2119|210/1575|70/524||,A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|3/12|c.210C>T|p.Tyr70Tyr|399/2081|210/1017|70/338|| 22 19907099 . C A . . ANN=A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|3/18|c.196G>T|p.Ala66Ser|385/2119|196/1575|66/524||,A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|3/12|c.196G>T|p.Ala66Ser|385/2081|196/1017|66/338|| 22 19907118 . G A . . ANN=A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|3/18|c.177C>T|p.Ala59Ala|366/2119|177/1575|59/524||,A|synonymous_variant|LOW|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|3/12|c.177C>T|p.Ala59Ala|366/2081|177/1017|59/338|| 22 19918615 . T A . . ANN=A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|2/18|c.110A>T|p.Gln37Leu|299/2119|110/1575|37/524||,A|missense_variant|MODERATE|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|2/12|c.110A>T|p.Gln37Leu|299/2081|110/1017|37/338|| 22 19918633 . G C . . ANN=C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|1/17|c.104-12C>G||||||,C|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|1/11|c.104-12C>G|||||| 22 19918647 . C T . . ANN=T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_006440.4|Coding|1/17|c.104-26G>A||||||,T|intron_variant|MODIFIER|TXNRD2|TXNRD2|transcript|NM_001282512.1|Coding|1/11|c.104-26G>A|||||| 22 19950040 . C T . . ANN=T|intron_variant|MODIFIER|COMT|COMT|transcript|NM_000754.3|Coding|2/5|c.1-10C>T||||||,T|intron_variant|MODIFIER|COMT|COMT|transcript|NM_001135161.1|Coding|2/5|c.1-10C>T||||||,T|intron_variant|MODIFIER|COMT|COMT|transcript|NM_001135162.1|Coding|2/5|c.1-10C>T|||||| 22 19950137 . G A . . ANN=A|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.88G>A|p.Gly30Ser|337/2304|88/816|30/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.88G>A|p.Gly30Ser|295/2262|88/816|30/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.88G>A|p.Gly30Ser|312/2279|88/816|30/271||,A|5_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.-63G>A|||||63| 22 19950166 . C T . . ANN=T|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.117C>T|p.Asn39Asn|366/2304|117/816|39/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.117C>T|p.Asn39Asn|324/2262|117/816|39/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.117C>T|p.Asn39Asn|341/2279|117/816|39/271||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.-34C>T||||||,T|5_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.-34C>T|||||34| 22 19950235 . C T . . ANN=T|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.186C>T|p.His62His|435/2304|186/816|62/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.186C>T|p.His62His|393/2262|186/816|62/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.186C>T|p.His62His|410/2279|186/816|62/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.36C>T|p.His12His|166/2035|36/666|12/221|| 22 19950257 . G A . . ANN=A|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.208G>A|p.Gly70Arg|457/2304|208/816|70/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.208G>A|p.Gly70Arg|415/2262|208/816|70/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.208G>A|p.Gly70Arg|432/2279|208/816|70/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.58G>A|p.Gly20Arg|188/2035|58/666|20/221|| 22 19950263 . G T . . ANN=T|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.214G>T|p.Ala72Ser|463/2304|214/816|72/271||,T|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.214G>T|p.Ala72Ser|421/2262|214/816|72/271||,T|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.214G>T|p.Ala72Ser|438/2279|214/816|72/271||,T|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.64G>T|p.Ala22Ser|194/2035|64/666|22/221|| 22 19950268 . G A . . ANN=A|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.219G>A|p.Gln73Gln|468/2304|219/816|73/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.219G>A|p.Gln73Gln|426/2262|219/816|73/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.219G>A|p.Gln73Gln|443/2279|219/816|73/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.69G>A|p.Gln23Gln|199/2035|69/666|23/221|| 22 19950299 . G A . . ANN=A|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.250G>A|p.Glu84Lys|499/2304|250/816|84/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.250G>A|p.Glu84Lys|457/2262|250/816|84/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.250G>A|p.Glu84Lys|474/2279|250/816|84/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.100G>A|p.Glu34Lys|230/2035|100/666|34/221|| 22 19950310 . G A . . ANN=A|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.261G>A|p.Glu87Glu|510/2304|261/816|87/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.261G>A|p.Glu87Glu|468/2262|261/816|87/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.261G>A|p.Glu87Glu|485/2279|261/816|87/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.111G>A|p.Glu37Glu|241/2035|111/666|37/221|| 22 19950329 . G A . . ANN=A|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|3/6|c.280G>A|p.Asp94Asn|529/2304|280/816|94/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|3/6|c.280G>A|p.Asp94Asn|487/2262|280/816|94/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|3/6|c.280G>A|p.Asp94Asn|504/2279|280/816|94/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|1/4|c.130G>A|p.Asp44Asn|260/2035|130/666|44/221|| 22 19951103 . G A . . ANN=A|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|4/6|c.304G>A|p.Ala102Thr|553/2304|304/816|102/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|4/6|c.304G>A|p.Ala102Thr|511/2262|304/816|102/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|4/6|c.304G>A|p.Ala102Thr|528/2279|304/816|102/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|2/4|c.154G>A|p.Ala52Thr|284/2035|154/666|52/221|| 22 19951116 . A G . . ANN=G|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|4/6|c.317A>G|p.Glu106Gly|566/2304|317/816|106/271||,G|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|4/6|c.317A>G|p.Glu106Gly|524/2262|317/816|106/271||,G|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|4/6|c.317A>G|p.Glu106Gly|541/2279|317/816|106/271||,G|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|2/4|c.167A>G|p.Glu56Gly|297/2035|167/666|56/221|| 22 19951207 . C G . . ANN=G|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|4/6|c.408C>G|p.Leu136Leu|657/2304|408/816|136/271||,G|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|4/6|c.408C>G|p.Leu136Leu|615/2262|408/816|136/271||,G|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|4/6|c.408C>G|p.Leu136Leu|632/2279|408/816|136/271||,G|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|2/4|c.258C>G|p.Leu86Leu|388/2035|258/666|86/221|| 22 19951220 . A G . . ANN=G|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|4/6|c.421A>G|p.Ile141Val|670/2304|421/816|141/271||,G|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|4/6|c.421A>G|p.Ile141Val|628/2262|421/816|141/271||,G|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|4/6|c.421A>G|p.Ile141Val|645/2279|421/816|141/271||,G|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|2/4|c.271A>G|p.Ile91Val|401/2035|271/666|91/221|| 22 19951237 . C T . . ANN=T|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|4/6|c.438C>T|p.Ala146Ala|687/2304|438/816|146/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|4/6|c.438C>T|p.Ala146Ala|645/2262|438/816|146/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|4/6|c.438C>T|p.Ala146Ala|662/2279|438/816|146/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|2/4|c.288C>T|p.Ala96Ala|418/2035|288/666|96/221|| 22 19951247 . C A . . ANN=A|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|4/6|c.448C>A|p.Gln150Lys|697/2304|448/816|150/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|4/6|c.448C>A|p.Gln150Lys|655/2262|448/816|150/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|4/6|c.448C>A|p.Gln150Lys|672/2279|448/816|150/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|2/4|c.298C>A|p.Gln100Lys|428/2035|298/666|100/221|| 22 19951270 . C T . . ANN=T|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|4/6|c.471C>T|p.Gly157Gly|720/2304|471/816|157/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|4/6|c.471C>T|p.Gly157Gly|678/2262|471/816|157/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|4/6|c.471C>T|p.Gly157Gly|695/2279|471/816|157/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|2/4|c.321C>T|p.Gly107Gly|451/2035|321/666|107/221|| 22 19951271 . G A . . ANN=A|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|4/6|c.472G>A|p.Val158Met|721/2304|472/816|158/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|4/6|c.472G>A|p.Val158Met|679/2262|472/816|158/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|4/6|c.472G>A|p.Val158Met|696/2279|472/816|158/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|2/4|c.322G>A|p.Val108Met|452/2035|322/666|108/221|| 22 19951710 . C T . . ANN=T|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|5/6|c.503C>T|p.Ala168Val|752/2304|503/816|168/271||,T|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|5/6|c.503C>T|p.Ala168Val|710/2262|503/816|168/271||,T|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|5/6|c.503C>T|p.Ala168Val|727/2279|503/816|168/271||,T|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|3/4|c.353C>T|p.Ala118Val|483/2035|353/666|118/221|| 22 19951717 . G A . . ANN=A|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|5/6|c.510G>A|p.Gln170Gln|759/2304|510/816|170/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|5/6|c.510G>A|p.Gln170Gln|717/2262|510/816|170/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|5/6|c.510G>A|p.Gln170Gln|734/2279|510/816|170/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|3/4|c.360G>A|p.Gln120Gln|490/2035|360/666|120/221|| 22 19951804 . G A . . ANN=A|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|5/6|c.597G>A|p.Pro199Pro|846/2304|597/816|199/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|5/6|c.597G>A|p.Pro199Pro|804/2262|597/816|199/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|5/6|c.597G>A|p.Pro199Pro|821/2279|597/816|199/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|3/4|c.447G>A|p.Pro149Pro|577/2035|447/666|149/221|| 22 19951816 . C T . . ANN=T|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|5/6|c.609C>T|p.Leu203Leu|858/2304|609/816|203/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|5/6|c.609C>T|p.Leu203Leu|816/2262|609/816|203/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|5/6|c.609C>T|p.Leu203Leu|833/2279|609/816|203/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|3/4|c.459C>T|p.Leu153Leu|589/2035|459/666|153/221|| 22 19951869 . CCATT C . . ANN=C|intron_variant|MODIFIER|COMT|COMT|transcript|NM_000754.3|Coding|5/5|c.615+48_615+51delCATT||||||,C|intron_variant|MODIFIER|COMT|COMT|transcript|NM_001135161.1|Coding|5/5|c.615+48_615+51delCATT||||||,C|intron_variant|MODIFIER|COMT|COMT|transcript|NM_001135162.1|Coding|5/5|c.615+48_615+51delCATT||||||,C|intron_variant|MODIFIER|COMT|COMT|transcript|NM_007310.2|Coding|3/3|c.465+48_465+51delCATT|||||| 22 19956014 . G C . . ANN=C|intron_variant|MODIFIER|COMT|COMT|transcript|NM_000754.3|Coding|5/5|c.616-45G>C||||||,C|intron_variant|MODIFIER|COMT|COMT|transcript|NM_001135161.1|Coding|5/5|c.616-45G>C||||||,C|intron_variant|MODIFIER|COMT|COMT|transcript|NM_001135162.1|Coding|5/5|c.616-45G>C||||||,C|intron_variant|MODIFIER|COMT|COMT|transcript|NM_007310.2|Coding|3/3|c.466-45G>C|||||| 22 19956208 . C T . . ANN=T|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|6/6|c.765C>T|p.Asp255Asp|1014/2304|765/816|255/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|6/6|c.765C>T|p.Asp255Asp|972/2262|765/816|255/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|6/6|c.765C>T|p.Asp255Asp|989/2279|765/816|255/271||,T|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|4/4|c.615C>T|p.Asp205Asp|745/2035|615/666|205/221|| 22 19956214 . G A . . ANN=A|synonymous_variant|LOW|COMT|COMT|transcript|NM_000754.3|Coding|6/6|c.771G>A|p.Leu257Leu|1020/2304|771/816|257/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135161.1|Coding|6/6|c.771G>A|p.Leu257Leu|978/2262|771/816|257/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_001135162.1|Coding|6/6|c.771G>A|p.Leu257Leu|995/2279|771/816|257/271||,A|synonymous_variant|LOW|COMT|COMT|transcript|NM_007310.2|Coding|4/4|c.621G>A|p.Leu207Leu|751/2035|621/666|207/221|| 22 19956221 . G A . . ANN=A|missense_variant|MODERATE|COMT|COMT|transcript|NM_000754.3|Coding|6/6|c.778G>A|p.Ala260Thr|1027/2304|778/816|260/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135161.1|Coding|6/6|c.778G>A|p.Ala260Thr|985/2262|778/816|260/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_001135162.1|Coding|6/6|c.778G>A|p.Ala260Thr|1002/2279|778/816|260/271||,A|missense_variant|MODERATE|COMT|COMT|transcript|NM_007310.2|Coding|4/4|c.628G>A|p.Ala210Thr|758/2035|628/666|210/221|| 22 19956262 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_000754.3|Coding|6/6|c.*3G>C|||||3|,C|3_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_001135161.1|Coding|6/6|c.*3G>C|||||3|,C|3_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_001135162.1|Coding|6/6|c.*3G>C|||||3|,C|3_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_007310.2|Coding|4/4|c.*3G>C|||||3| 22 19956269 . C CG . . ANN=G|3_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_000754.3|Coding|6/6|c.*12dupG|||||13|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_001135161.1|Coding|6/6|c.*12dupG|||||13|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_001135162.1|Coding|6/6|c.*12dupG|||||13|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|COMT|COMT|transcript|NM_007310.2|Coding|4/4|c.*12dupG|||||13|INFO_REALIGN_3_PRIME 22 19958710 . T A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|19/19|c.*12+29A>T|||||| 22 19958719 . A G . . ANN=G|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|19/19|c.*12+20T>C|||||| 22 19958789 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|19/20|c.2851G>A|p.Gly951Arg|3121/4036|2851/2889|951/962|| 22 19958793 . G C . . ANN=C|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|19/20|c.2847C>G|p.Ala949Ala|3117/4036|2847/2889|949/962|| 22 19958811 . C T . . ANN=T|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|19/20|c.2829G>A|p.Ala943Ala|3099/4036|2829/2889|943/962|| 22 19958814 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|19/20|c.2826C>T|p.Pro942Pro|3096/4036|2826/2889|942/962|| 22 19958829 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|19/20|c.2811C>T|p.Pro937Pro|3081/4036|2811/2889|937/962|| 22 19958870 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/19|c.2782-12C>T|||||| 22 19958885 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/19|c.2782-27C>T|||||| 22 19958898 . GGTTA G . . ANN=G|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/19|c.2782-44_2782-41delTAAC|||||| 22 19959366 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/19|c.2781+43C>T|||||| 22 19959376 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/19|c.2781+33G>A|||||| 22 19959388 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/19|c.2781+21G>A|||||| 22 19959455 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/20|c.2735G>A|p.Arg912Gln|3005/4036|2735/2889|912/962|| 22 19959456 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/20|c.2734C>T|p.Arg912Trp|3004/4036|2734/2889|912/962|| 22 19959457 . T C . . ANN=C|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/20|c.2733A>G|p.Pro911Pro|3003/4036|2733/2889|911/962|| 22 19959464 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/20|c.2726G>A|p.Arg909Gln|2996/4036|2726/2889|909/962|| 22 19959473 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|18/20|c.2717G>A|p.Arg906Gln|2987/4036|2717/2889|906/962|| 22 19959503 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|17/19|c.2696-9C>T|||||| 22 19959539 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|17/19|c.2696-45C>T|||||| 22 19959843 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|17/19|c.2695+38G>A|||||| 22 19959918 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|17/20|c.2658C>T|p.Gly886Gly|2928/4036|2658/2889|886/962|| 22 19959919 . C A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|17/20|c.2657G>T|p.Gly886Val|2927/4036|2657/2889|886/962|| 22 19959955 . A G . . ANN=G|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|16/19|c.2642-21T>C|||||| 22 19960220 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|16/19|c.2641+40C>T|||||| 22 19960238 . C A,G,T . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|16/19|c.2641+22G>T||||||,G|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|16/19|c.2641+22G>C||||||,T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|16/19|c.2641+22G>A|||||| 22 19960326 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|16/20|c.2575C>T|p.Pro859Ser|2845/4036|2575/2889|859/962|| 22 19960370 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/19|c.2551-20G>A|||||| 22 19960374 . G C . . ANN=C|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/19|c.2551-24C>G|||||| 22 19960375 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/19|c.2551-25C>T|||||| 22 19960394 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/19|c.2551-44C>T|||||| 22 19960412 . G T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/19|c.2550+36C>A|||||| 22 19960421 . A G . . ANN=G|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/19|c.2550+27T>C|||||| 22 19960429 . A C . . ANN=C|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/19|c.2550+19T>G|||||| 22 19960434 . C A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/19|c.2550+14G>T|||||| 22 19960485 . G C . . ANN=C|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/20|c.2513C>G|p.Thr838Ser|2783/4036|2513/2889|838/962|| 22 19960499 . C T . . ANN=T|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/20|c.2499G>A|p.Lys833Lys|2769/4036|2499/2889|833/962|| 22 19960512 . A G . . ANN=G|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/20|c.2486T>C|p.Val829Ala|2756/4036|2486/2889|829/962|| 22 19960533 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/20|c.2465C>T|p.Ala822Val|2735/4036|2465/2889|822/962|| 22 19960536 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/20|c.2462C>T|p.Ala821Val|2732/4036|2462/2889|821/962|| 22 19960542 . G C . . ANN=C|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/20|c.2456C>G|p.Ala819Gly|2726/4036|2456/2889|819/962|| 22 19960548 . C G . . ANN=G|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|15/20|c.2450G>C|p.Arg817Pro|2720/4036|2450/2889|817/962|| 22 19960583 . G T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|14/19|c.2439-24C>A|||||| 22 19960606 . G C . . ANN=C|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|14/19|c.2438+36C>G|||||| 22 19960666 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|14/20|c.2414C>T|p.Ala805Val|2684/4036|2414/2889|805/962|| 22 19960722 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|14/20|c.2358C>T|p.Ile786Ile|2628/4036|2358/2889|786/962|| 22 19961127 . A G . . ANN=G|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|13/19|c.2239+39T>C|||||| 22 19961335 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|12/19|c.2089-19C>T|||||| 22 19961668 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|12/20|c.2055C>T|p.Gly685Gly|2325/4036|2055/2889|685/962|| 22 19961730 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|12/20|c.1993C>T|p.Arg665Cys|2263/4036|1993/2889|665/962|| 22 19961740 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|12/20|c.1983C>T|p.Pro661Pro|2253/4036|1983/2889|661/962|| 22 19963258 . G C . . ANN=C|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|11/20|c.1911C>G|p.Asp637Glu|2181/4036|1911/2889|637/962|| 22 19963271 . T G . . ANN=G|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|11/20|c.1898A>C|p.Asp633Ala|2168/4036|1898/2889|633/962|| 22 19964193 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|10/19|c.1888+36G>A|||||| 22 19964291 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/19|c.1871-45G>A|||||| 22 19964895 . G C . . ANN=C|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/19|c.1870+43C>G|||||| 22 19964920 . C A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/19|c.1870+18G>T|||||| 22 19964925 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/19|c.1870+13G>A|||||| 22 19964927 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/19|c.1870+11C>T|||||| 22 19965047 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/20|c.1761C>T|p.Pro587Pro|2031/4036|1761/2889|587/962|| 22 19965059 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/20|c.1749C>T|p.His583His|2019/4036|1749/2889|583/962|| 22 19965069 . T C . . ANN=C|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/20|c.1739A>G|p.Tyr580Cys|2009/4036|1739/2889|580/962|| 22 19965084 . A G . . ANN=G|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/20|c.1724T>C|p.Met575Thr|1994/4036|1724/2889|575/962|| 22 19965107 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|9/20|c.1701G>A|p.Ser567Ser|1971/4036|1701/2889|567/962|| 22 19965125 . A G . . ANN=G|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|8/19|c.1699-16T>C|||||| 22 19965437 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|8/19|c.1698+44C>T|||||| 22 19965469 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|8/19|c.1698+12C>T|||||| 22 19965501 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|8/20|c.1678C>T|p.Arg560Trp|1948/4036|1678/2889|560/962|| 22 19965563 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|8/20|c.1616G>A|p.Arg539Gln|1886/4036|1616/2889|539/962|| 22 19966549 . T C . . ANN=C|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|7/20|c.1451A>G|p.His484Arg|1721/4036|1451/2889|484/962|| 22 19966562 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|7/20|c.1438G>A|p.Val480Ile|1708/4036|1438/2889|480/962|| 22 19966579 . T G . . ANN=G|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|7/20|c.1421A>C|p.Tyr474Ser|1691/4036|1421/2889|474/962|| 22 19966610 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/19|c.1397-7C>T|||||| 22 19966614 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/19|c.1397-11G>A|||||| 22 19966646 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/19|c.1397-43C>T|||||| 22 19966647 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/19|c.1397-44G>A|||||| 22 19967226 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/19|c.1396+40G>A|||||| 22 19967239 . A T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/19|c.1396+27T>A|||||| 22 19967248 . T C . . ANN=C|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/19|c.1396+18A>G|||||| 22 19967312 . G T . . ANN=T|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/20|c.1350C>A|p.Arg450Arg|1620/4036|1350/2889|450/962|| 22 19967330 . A G . . ANN=G|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/20|c.1332T>C|p.Gly444Gly|1602/4036|1332/2889|444/962|| 22 19967480 . C G . . ANN=G|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/20|c.1182G>C|p.Arg394Arg|1452/4036|1182/2889|394/962|| 22 19967543 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/20|c.1119C>T|p.Pro373Pro|1389/4036|1119/2889|373/962|| 22 19967567 . G A . . ANN=A|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/20|c.1095C>T|p.Ala365Ala|1365/4036|1095/2889|365/962|| 22 19967614 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/20|c.1048C>T|p.Arg350Cys|1318/4036|1048/2889|350/962|| 22 19967648 . C G . . ANN=G|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|6/20|c.1014G>C|p.Arg338Arg|1284/4036|1014/2889|338/962|| 22 19967808 . G T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/19|c.897-43C>A|||||| 22 19968714 . G A . . ANN=A|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/19|c.896+20C>T|||||| 22 19968719 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/19|c.896+15G>A|||||| 22 19968933 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/20|c.697C>T|p.Arg233Trp|967/4036|697/2889|233/962|| 22 19968971 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/20|c.659C>T|p.Pro220Leu|929/4036|659/2889|220/962|| 22 19969043 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/20|c.587G>A|p.Arg196Gln|857/4036|587/2889|196/962|| 22 19969075 . A G . . ANN=G|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/20|c.555T>C|p.Ser185Ser|825/4036|555/2889|185/962|| 22 19969106 . A G . . ANN=G|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/20|c.524T>C|p.Val175Ala|794/4036|524/2889|175/962|| 22 19969182 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/20|c.448G>A|p.Asp150Asn|718/4036|448/2889|150/962|| 22 19969208 . A G . . ANN=G|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|5/20|c.422T>C|p.Val141Ala|692/4036|422/2889|141/962|| 22 19969285 . T G . . ANN=G|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|4/19|c.370-25A>C|||||| 22 19969295 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|4/19|c.370-35G>A|||||| 22 19969420 . C T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|4/19|c.369+36G>A|||||| 22 19969469 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|4/20|c.356G>A|p.Arg119His|626/4036|356/2889|119/962|| 22 19969488 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|4/20|c.337G>A|p.Glu113Lys|607/4036|337/2889|113/962|| 22 19969495 . G T . . ANN=T|synonymous_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|4/20|c.330C>A|p.Val110Val|600/4036|330/2889|110/962|| 22 19978074 . A T . . ANN=T|intron_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|3/19|c.210+34T>A|||||| 22 19978218 . G A . . ANN=A|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|3/20|c.100C>T|p.Arg34Trp|370/4036|100/2889|34/962|| 22 19978253 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|3/20|c.65G>A|p.Arg22His|335/4036|65/2889|22/962|| 22 19978278 . C T . . ANN=T|missense_variant|MODERATE|ARVCF|ARVCF|transcript|NM_001670.2|Coding|3/20|c.40G>A|p.Ala14Thr|310/4036|40/2889|14/962|| 22 19978335 . G A . . ANN=A|splice_region_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|3/20|c.-18C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|ARVCF|ARVCF|transcript|NM_001670.2|Coding|3/20|c.-18C>T||||||,A|5_prime_UTR_variant|MODIFIER|ARVCF|ARVCF|transcript|NM_001670.2|Coding|3/20|c.-18C>T|||||18| 22 20024308 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|2/9|c.-131C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|3/10|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|2/7|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|2/9|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|2/9|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|2/9|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|2/7|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|2/7|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|2/7|c.-131C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|2/8|c.-193C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|2/6|c.-14C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TANGO2|TANGO2|transcript|NM_152906.5|Coding|2/9|c.-14C>T||||||,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|2/9|c.-131C>T|||||131|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|3/10|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|2/7|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|2/9|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|2/9|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|2/9|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|2/7|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|2/7|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|2/7|c.-131C>T|||||131|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|2/8|c.-193C>T|||||15714|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|2/6|c.-14C>T|||||14|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|2/9|c.-14C>T|||||14|,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|2/7|n.92C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|1/6|n.26C>T|||||| 22 20024318 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|2/9|c.-121C>T|||||121|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|3/10|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|2/7|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|2/9|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|2/9|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|2/9|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|2/7|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|2/7|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|2/7|c.-121C>T|||||121|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|2/8|c.-183C>T|||||15704|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|2/6|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|2/9|c.-4C>T|||||4|,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|2/7|n.102C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|1/6|n.36C>T|||||| 22 20024404 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|2/9|c.-35C>T|||||35|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|2/7|c.-35C>T|||||35|,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|3/9|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|2/6|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|2/8|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|2/8|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|2/8|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|2/6|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|2/6|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|2/7|c.-124+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|2/5|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|2/8|c.56+27C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|2/6|n.161+27C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|1/6|n.122C>T|||||| 22 20024417 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|2/9|c.-22C>T|||||22|,T|5_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|2/7|c.-22C>T|||||22|,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|3/9|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|2/6|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|2/8|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|2/8|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|2/8|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|2/6|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|2/6|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|2/7|c.-124+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|2/5|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|2/8|c.56+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|2/6|n.161+40C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|1/6|n.135C>T|||||| 22 20030980 . C T . . ANN=T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|3/8|c.268+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|4/9|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|3/6|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|3/8|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|3/8|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|3/8|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|3/6|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|3/6|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|3/6|c.268+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|3/7|c.-35+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|3/5|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|3/8|c.145+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|3/6|n.250+14C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|2/5|n.424+14C>T|||||| 22 20031016 . G C . . ANN=C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|3/8|c.268+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|4/9|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|3/6|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|3/8|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|3/8|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|3/8|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|3/6|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|3/6|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|3/6|c.268+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|3/7|c.-35+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|3/5|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|3/8|c.145+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|3/6|n.250+50G>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|2/5|n.424+50G>C|||||| 22 20041022 . T A . . ANN=A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|5/9|c.451T>A|p.Ser151Thr|673/2440|451/954|151/317||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|6/10|c.328T>A|p.Ser110Thr|679/2446|328/831|110/276||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|5/9|c.328T>A|p.Ser110Thr|433/2200|328/831|110/276||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|5/9|c.328T>A|p.Ser110Thr|433/2198|328/759|110/252||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|5/9|c.328T>A|p.Ser110Thr|545/2310|328/759|110/252||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/7|c.328T>A|p.Ser110Thr|545/2087|328/606|110/201||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|5/7|c.451T>A|p.Ser151Thr|673/2181|451/597|151/198||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|5/9|c.328T>A|p.Ser110Thr|545/2312|328/831|110/276||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|4/7|c.86+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|4/6|n.370+915T>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|3/5|n.544+915T>A|||||| 22 20041023 . C T . . ANN=T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|5/9|c.452C>T|p.Ser151Phe|674/2440|452/954|151/317||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|6/10|c.329C>T|p.Ser110Phe|680/2446|329/831|110/276||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|5/9|c.329C>T|p.Ser110Phe|434/2200|329/831|110/276||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|5/9|c.329C>T|p.Ser110Phe|434/2198|329/759|110/252||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|5/9|c.329C>T|p.Ser110Phe|546/2310|329/759|110/252||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/7|c.329C>T|p.Ser110Phe|546/2087|329/606|110/201||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|5/7|c.452C>T|p.Ser151Phe|674/2181|452/597|151/198||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|5/9|c.329C>T|p.Ser110Phe|546/2312|329/831|110/276||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|4/7|c.86+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|4/6|n.370+916C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|3/5|n.544+916C>T|||||| 22 20041098 . C T . . ANN=T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|5/8|c.503+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|6/9|c.380+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|5/8|c.380+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|5/8|c.380+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|5/8|c.380+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.380+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|5/6|c.503+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|4/7|c.86+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|5/8|c.380+24C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|4/6|n.370+991C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|3/5|n.544+991C>T|||||| 22 20041119 . C CG . . ANN=CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|5/8|c.503+45_503+46insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|6/9|c.380+45_380+46insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+1012_265+1013insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|5/8|c.380+45_380+46insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|5/8|c.380+45_380+46insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|5/8|c.380+45_380+46insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+1012_265+1013insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.380+45_380+46insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|5/6|c.503+45_503+46insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|4/7|c.86+1012_86+1013insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+1012_265+1013insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|5/8|c.380+45_380+46insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|4/6|n.370+1012_370+1013insG||||||,CG|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|3/5|n.544+1012_544+1013insG|||||| 22 20043423 . G A . . ANN=A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|5/8|c.504-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|6/9|c.381-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+3316G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|5/8|c.381-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|5/8|c.381-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|5/8|c.381-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+3316G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.380+2349G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|5/6|c.504-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|4/7|c.87-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+3316G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|5/8|c.381-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|4/6|n.371-43G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|3/5|n.545-43G>A|||||| 22 20043426 . C T . . ANN=T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|5/8|c.504-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|6/9|c.381-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+3319C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|5/8|c.381-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|5/8|c.381-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|5/8|c.381-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+3319C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.380+2352C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|5/6|c.504-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|4/7|c.87-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+3319C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|5/8|c.381-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|4/6|n.371-40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|3/5|n.545-40C>T|||||| 22 20043504 . G A . . ANN=A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|6/9|c.542G>A|p.Arg181Gln|764/2440|542/954|181/317||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|7/10|c.419G>A|p.Arg140Gln|770/2446|419/831|140/276||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|6/9|c.419G>A|p.Arg140Gln|524/2200|419/831|140/276||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|6/9|c.419G>A|p.Arg140Gln|524/2198|419/759|140/252||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|6/9|c.419G>A|p.Arg140Gln|636/2310|419/759|140/252||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/7|c.542G>A|p.Arg181Gln|764/2181|542/597|181/198||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|5/8|c.125G>A|p.Arg42Gln|409/2085|125/537|42/178||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|6/9|c.419G>A|p.Arg140Gln|636/2312|419/831|140/276||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+3397G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+3397G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.380+2430G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+3397G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|5/7|n.409G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|4/6|n.583G>A|||||| 22 20043570 . G A . . ANN=A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|6/8|c.574+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|7/9|c.451+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+3463G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|6/8|c.451+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|6/8|c.451+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|6/8|c.451+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+3463G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.380+2496G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.574+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|5/7|c.157+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+3463G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|6/8|c.451+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|5/6|n.441+34G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|4/5|n.615+34G>A|||||| 22 20043582 . G A . . ANN=A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|6/8|c.574+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|7/9|c.451+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.265+3475G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|6/8|c.451+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|6/8|c.451+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|6/8|c.451+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.265+3475G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.380+2508G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.574+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|5/7|c.157+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.265+3475G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|6/8|c.451+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|5/6|n.441+46G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|4/5|n.615+46G>A|||||| 22 20049028 . A G . . ANN=G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|6/8|c.575-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|7/9|c.452-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|4/6|c.266-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|6/8|c.452-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|6/8|c.452-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|6/8|c.452-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|4/6|c.266-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.381-1833A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-3037A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|5/7|c.158-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.266-1833A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|6/8|c.452-25A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|5/6|n.442-1833A>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|4/5|n.616-1833A>G|||||| 22 20049118 . C T . . ANN=T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|7/9|c.640C>T|p.Leu214Phe|862/2440|640/954|214/317||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|8/10|c.517C>T|p.Leu173Phe|868/2446|517/831|173/276||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|5/7|c.331C>T|p.Leu111Phe|563/2141|331/645|111/214||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|7/9|c.517C>T|p.Leu173Phe|622/2200|517/831|173/276||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|7/9|c.517C>T|p.Leu173Phe|622/2198|517/759|173/252||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|7/9|c.517C>T|p.Leu173Phe|734/2310|517/759|173/252||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|5/7|c.331C>T|p.Leu111Phe|436/2014|331/645|111/214||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|6/8|c.223C>T|p.Leu75Phe|507/2085|223/537|75/178||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|7/9|c.517C>T|p.Leu173Phe|734/2312|517/831|173/276||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.381-1743C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-2947C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.266-1743C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|5/6|n.442-1743C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|4/5|n.616-1743C>T|||||| 22 20049131 . C T . . ANN=T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|7/9|c.653C>T|p.Ala218Val|875/2440|653/954|218/317||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|8/10|c.530C>T|p.Ala177Val|881/2446|530/831|177/276||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|5/7|c.344C>T|p.Ala115Val|576/2141|344/645|115/214||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|7/9|c.530C>T|p.Ala177Val|635/2200|530/831|177/276||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|7/9|c.530C>T|p.Ala177Val|635/2198|530/759|177/252||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|7/9|c.530C>T|p.Ala177Val|747/2310|530/759|177/252||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|5/7|c.344C>T|p.Ala115Val|449/2014|344/645|115/214||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|6/8|c.236C>T|p.Ala79Val|520/2085|236/537|79/178||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|7/9|c.530C>T|p.Ala177Val|747/2312|530/831|177/276||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.381-1730C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-2934C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.266-1730C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|5/6|n.442-1730C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|4/5|n.616-1730C>T|||||| 22 20049244 . C T . . ANN=T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|7/8|c.728+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|8/9|c.605+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|5/6|c.419+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|7/8|c.605+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|7/8|c.603+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|7/8|c.603+40C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|5/6|c.419+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.381-1617C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-2821C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|6/7|c.311+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.266-1617C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|7/8|c.605+38C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|5/6|n.442-1617C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|4/5|n.616-1617C>T|||||| 22 20050815 . C T . . ANN=T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|7/8|c.729-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|8/9|c.606-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|5/6|c.420-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|7/8|c.606-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|7/8|c.604-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|7/8|c.604-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|5/6|c.420-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|5/6|c.381-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-1250C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|6/7|c.312-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|4/5|c.266-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|7/8|c.606-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|5/6|n.442-46C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|4/5|n.616-46C>T|||||| 22 20050883 . G A . . ANN=A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|8/9|c.751G>A|p.Glu251Lys|973/2440|751/954|251/317||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|9/10|c.628G>A|p.Glu210Lys|979/2446|628/831|210/276||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|6/7|c.442G>A|p.Glu148Lys|674/2141|442/645|148/214||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|8/9|c.628G>A|p.Glu210Lys|733/2200|628/831|210/276||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|8/9|c.626G>A|p.Arg209Gln|731/2198|626/759|209/252||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|8/9|c.626G>A|p.Arg209Gln|843/2310|626/759|209/252||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|6/7|c.442G>A|p.Glu148Lys|547/2014|442/645|148/214||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|6/7|c.403G>A|p.Glu135Lys|620/2087|403/606|135/201||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|7/8|c.334G>A|p.Glu112Lys|618/2085|334/537|112/178||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|8/9|c.628G>A|p.Glu210Lys|845/2312|628/831|210/276||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|5/6|c.288G>A|p.Ser96Ser|393/1860|288/324|96/107||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-1182G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|6/7|n.464G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|5/6|n.638G>A|||||| 22 20050886 . G C . . ANN=C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|8/9|c.754G>C|p.Asp252His|976/2440|754/954|252/317||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|9/10|c.631G>C|p.Asp211His|982/2446|631/831|211/276||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|6/7|c.445G>C|p.Asp149His|677/2141|445/645|149/214||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|8/9|c.631G>C|p.Asp211His|736/2200|631/831|211/276||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|8/9|c.629G>C|p.Gly210Ala|734/2198|629/759|210/252||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|8/9|c.629G>C|p.Gly210Ala|846/2310|629/759|210/252||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|6/7|c.445G>C|p.Asp149His|550/2014|445/645|149/214||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|6/7|c.406G>C|p.Asp136His|623/2087|406/606|136/201||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|7/8|c.337G>C|p.Asp113His|621/2085|337/537|113/178||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|5/6|c.291G>C|p.Arg97Ser|396/1860|291/324|97/107||,C|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|8/9|c.631G>C|p.Asp211His|848/2312|631/831|211/276||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-1179G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|6/7|n.467G>C||||||,C|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|5/6|n.641G>C|||||| 22 20050957 . C T . . ANN=T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|8/9|c.700C>T|p.Arg234Trp|805/2198|700/759|234/252||,T|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|8/9|c.700C>T|p.Arg234Trp|917/2310|700/759|234/252||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|8/9|c.825C>T|p.Tyr275Tyr|1047/2440|825/954|275/317||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|9/10|c.702C>T|p.Tyr234Tyr|1053/2446|702/831|234/276||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|6/7|c.516C>T|p.Tyr172Tyr|748/2141|516/645|172/214||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|8/9|c.702C>T|p.Tyr234Tyr|807/2200|702/831|234/276||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|6/7|c.516C>T|p.Tyr172Tyr|621/2014|516/645|172/214||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|6/7|c.477C>T|p.Tyr159Tyr|694/2087|477/606|159/201||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|7/8|c.408C>T|p.Tyr136Tyr|692/2085|408/537|136/178||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_152906.5|Coding|8/9|c.702C>T|p.Tyr234Tyr|919/2312|702/831|234/276||,T|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|5/6|c.*38C>T|||||38|,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-1108C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|6/7|n.538C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|5/6|n.712C>T|||||| 22 20050979 . G A . . ANN=A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|8/8|c.833+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|9/9|c.710+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|6/6|c.524+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|8/8|c.710+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|8/8|c.708+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|8/8|c.708+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|6/6|c.524+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|6/6|c.485+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-1086G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|7/7|c.416+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|5/5|c.*46+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|8/8|c.710+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|6/6|n.546+14G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|5/5|n.720+14G>A|||||| 22 20052038 . T C . . ANN=C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|8/8|c.834-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|9/9|c.711-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|6/6|c.525-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|8/8|c.711-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|8/8|c.709-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|8/8|c.709-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|6/6|c.525-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|6/6|c.486-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|7/7|c.417-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|5/5|c.*47-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|8/8|c.711-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|6/6|n.547-27T>C||||||,C|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|5/5|n.721-27T>C|||||| 22 20052043 . G A . . ANN=A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|8/8|c.834-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|9/9|c.711-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|6/6|c.525-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|8/8|c.711-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|8/8|c.709-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|8/8|c.709-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|6/6|c.525-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|6/6|c.486-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|7/7|c.417-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|5/5|c.*47-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|8/8|c.711-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|6/6|n.547-22G>A||||||,A|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|5/5|n.721-22G>A|||||| 22 20052050 . C T . . ANN=T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|8/8|c.834-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|9/9|c.711-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|6/6|c.525-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|8/8|c.711-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|8/8|c.709-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|8/8|c.709-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|6/6|c.525-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|6/6|c.486-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|7/7|c.417-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|5/5|c.*47-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|8/8|c.711-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|6/6|n.547-15C>T||||||,T|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|5/5|n.721-15C>T|||||| 22 20052054 . C G . . ANN=G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|8/8|c.834-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|9/9|c.711-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|6/6|c.525-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|8/8|c.711-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|8/8|c.709-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|8/8|c.709-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|6/6|c.525-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|6/6|c.486-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|6/6|c.575-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|7/7|c.417-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|5/5|c.*47-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_152906.5|Coding|8/8|c.711-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|6/6|n.547-11C>G||||||,G|intron_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|5/5|n.721-11C>G|||||| 22 20052089 . T G . . ANN=G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|9/9|c.858T>G|p.Asp286Glu|1080/2440|858/954|286/317||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|10/10|c.735T>G|p.Asp245Glu|1086/2446|735/831|245/276||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|7/7|c.549T>G|p.Asp183Glu|781/2141|549/645|183/214||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|9/9|c.735T>G|p.Asp245Glu|840/2200|735/831|245/276||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|9/9|c.733T>G|p.Cys245Gly|838/2198|733/759|245/252||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|9/9|c.733T>G|p.Cys245Gly|950/2310|733/759|245/252||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|7/7|c.549T>G|p.Asp183Glu|654/2014|549/645|183/214||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|7/7|c.510T>G|p.Asp170Glu|727/2087|510/606|170/201||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|8/8|c.441T>G|p.Asp147Glu|725/2085|441/537|147/178||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|9/9|c.735T>G|p.Asp245Glu|952/2312|735/831|245/276||,G|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|7/7|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|6/6|c.*71T>G|||||1170|,G|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|7/7|n.571T>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|6/6|n.745T>G|||||| 22 20052092 . G A . . ANN=A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|9/9|c.736G>A|p.Gly246Arg|841/2198|736/759|246/252||,A|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|9/9|c.736G>A|p.Gly246Arg|953/2310|736/759|246/252||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|9/9|c.861G>A|p.Ala287Ala|1083/2440|861/954|287/317||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|10/10|c.738G>A|p.Ala246Ala|1089/2446|738/831|246/276||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|7/7|c.552G>A|p.Ala184Ala|784/2141|552/645|184/214||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|9/9|c.738G>A|p.Ala246Ala|843/2200|738/831|246/276||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|7/7|c.552G>A|p.Ala184Ala|657/2014|552/645|184/214||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|7/7|c.513G>A|p.Ala171Ala|730/2087|513/606|171/201||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|8/8|c.444G>A|p.Ala148Ala|728/2085|444/537|148/178||,A|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_152906.5|Coding|9/9|c.738G>A|p.Ala246Ala|955/2312|738/831|246/276||,A|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|7/7|c.*5G>A|||||5|,A|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|6/6|c.*74G>A|||||1173|,A|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|7/7|n.574G>A||||||,A|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|6/6|n.748G>A|||||| 22 20052143 . C T . . ANN=T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|9/9|c.912C>T|p.Ser304Ser|1134/2440|912/954|304/317||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|10/10|c.789C>T|p.Ser263Ser|1140/2446|789/831|263/276||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|7/7|c.603C>T|p.Ser201Ser|835/2141|603/645|201/214||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|9/9|c.789C>T|p.Ser263Ser|894/2200|789/831|263/276||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|7/7|c.603C>T|p.Ser201Ser|708/2014|603/645|201/214||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|7/7|c.564C>T|p.Ser188Ser|781/2087|564/606|188/201||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|8/8|c.495C>T|p.Ser165Ser|779/2085|495/537|165/178||,T|synonymous_variant|LOW|TANGO2|TANGO2|transcript|NM_152906.5|Coding|9/9|c.789C>T|p.Ser263Ser|1006/2312|789/831|263/276||,T|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|9/9|c.*28C>T|||||28|,T|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|9/9|c.*28C>T|||||28|,T|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|7/7|c.*56C>T|||||56|,T|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|6/6|c.*125C>T|||||1224|,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|7/7|n.625C>T||||||,T|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|6/6|n.799C>T|||||| 22 20052166 . A G . . ANN=G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283129.1|Coding|9/9|c.935A>G|p.Glu312Gly|1157/2440|935/954|312/317||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283106.1|Coding|10/10|c.812A>G|p.Glu271Gly|1163/2446|812/831|271/276||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283179.1|Coding|7/7|c.626A>G|p.Glu209Gly|858/2141|626/645|209/214||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283116.1|Coding|9/9|c.812A>G|p.Glu271Gly|917/2200|812/831|271/276||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283186.1|Coding|7/7|c.626A>G|p.Glu209Gly|731/2014|626/645|209/214||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283199.1|Coding|7/7|c.587A>G|p.Glu196Gly|804/2087|587/606|196/201||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_001283235.1|Coding|8/8|c.518A>G|p.Glu173Gly|802/2085|518/537|173/178||,G|missense_variant|MODERATE|TANGO2|TANGO2|transcript|NM_152906.5|Coding|9/9|c.812A>G|p.Glu271Gly|1029/2312|812/831|271/276||,G|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283148.1|Coding|9/9|c.*51A>G|||||51|,G|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283154.1|Coding|9/9|c.*51A>G|||||51|,G|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283215.1|Coding|7/7|c.*79A>G|||||79|,G|3_prime_UTR_variant|MODIFIER|TANGO2|TANGO2|transcript|NM_001283248.1|Coding|6/6|c.*148A>G|||||1247|,G|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104274.1|Noncoding|7/7|n.648A>G||||||,G|non_coding_exon_variant|MODIFIER|TANGO2|TANGO2|transcript|NR_104275.1|Noncoding|6/6|n.822A>G|||||| 22 20073773 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|2/14|c.287C>T|p.Pro96Leu|716/4520|287/2322|96/773||,T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|2/13|c.287C>T|p.Pro96Leu|716/4421|287/2223|96/740|| 22 20073919 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|2/14|c.433C>T|p.Arg145Trp|862/4520|433/2322|145/773||,T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|2/13|c.433C>T|p.Arg145Trp|862/4421|433/2223|145/740|| 22 20073923 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|2/14|c.437C>T|p.Ala146Val|866/4520|437/2322|146/773||,T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|2/13|c.437C>T|p.Ala146Val|866/4421|437/2223|146/740|| 22 20073924 . G A . . ANN=A|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|2/14|c.438G>A|p.Ala146Ala|867/4520|438/2322|146/773||,A|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|2/13|c.438G>A|p.Ala146Ala|867/4421|438/2223|146/740|| 22 20073930 . C T . . ANN=T|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|2/14|c.444C>T|p.Cys148Cys|873/4520|444/2322|148/773||,T|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|2/13|c.444C>T|p.Cys148Cys|873/4421|444/2223|148/740|| 22 20073937 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|2/14|c.451C>T|p.Leu151Phe|880/4520|451/2322|151/773||,T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|2/13|c.451C>T|p.Leu151Phe|880/4421|451/2223|151/740|| 22 20074006 . A G . . ANN=G|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|2/14|c.520A>G|p.Ile174Val|949/4520|520/2322|174/773||,G|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|2/13|c.520A>G|p.Ile174Val|949/4421|520/2223|174/740|| 22 20074699 . C T . . ANN=T|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|3/14|c.735C>T|p.Asn245Asn|1164/4520|735/2322|245/773||,T|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|3/13|c.735C>T|p.Asn245Asn|1164/4421|735/2223|245/740|| 22 20074819 . G C . . ANN=C|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|3/14|c.855G>C|p.Met285Ile|1284/4520|855/2322|285/773||,C|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|3/13|c.855G>C|p.Met285Ile|1284/4421|855/2223|285/740|| 22 20074870 . G C . . ANN=C|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|3/13|c.880+26G>C||||||,C|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|3/12|c.880+26G>C|||||| 22 20077155 . T A . . ANN=A|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|3/13|c.881-37T>A||||||,A|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|3/12|c.881-37T>A|||||| 22 20077451 . A G . . ANN=G|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|4/13|c.1024-48A>G||||||,G|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|4/12|c.1024-48A>G|||||| 22 20077456 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|4/13|c.1024-43C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|4/12|c.1024-43C>T|||||| 22 20077523 . A G . . ANN=G|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|5/14|c.1048A>G|p.Ile350Val|1477/4520|1048/2322|350/773||,G|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|5/13|c.1048A>G|p.Ile350Val|1477/4421|1048/2223|350/740|| 22 20077566 . G A . . ANN=A|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|5/14|c.1091G>A|p.Arg364Gln|1520/4520|1091/2322|364/773||,A|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|5/13|c.1091G>A|p.Arg364Gln|1520/4421|1091/2223|364/740|| 22 20077681 . G A . . ANN=A|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|5/14|c.1206G>A|p.Pro402Pro|1635/4520|1206/2322|402/773||,A|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|5/13|c.1206G>A|p.Pro402Pro|1635/4421|1206/2223|402/740|| 22 20077694 . G A . . ANN=A|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|5/14|c.1219G>A|p.Glu407Lys|1648/4520|1219/2322|407/773||,A|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|5/13|c.1219G>A|p.Glu407Lys|1648/4421|1219/2223|407/740|| 22 20077720 . A C . . ANN=C|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|5/14|c.1245A>C|p.Ala415Ala|1674/4520|1245/2322|415/773||,C|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|5/13|c.1245A>C|p.Ala415Ala|1674/4421|1245/2223|415/740|| 22 20077756 . C T . . ANN=T|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|5/14|c.1281C>T|p.Val427Val|1710/4520|1281/2322|427/773||,T|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|5/13|c.1281C>T|p.Val427Val|1710/4421|1281/2223|427/740|| 22 20078948 . T C . . ANN=C|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|5/13|c.1307-10T>C||||||,C|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|5/12|c.1307-10T>C|||||| 22 20079354 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|6/13|c.1505-38C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|6/12|c.1505-38C>T|||||| 22 20079508 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|7/13|c.1606+15C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|7/12|c.1606+15C>T|||||| 22 20080296 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|7/13|c.1607-36C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|7/12|c.1606+803C>T|||||| 22 20080435 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|8/13|c.1705+5C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|7/12|c.1606+942C>T|||||| 22 20080447 . G A . . ANN=A|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|8/13|c.1705+17G>A||||||,A|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|7/12|c.1606+954G>A|||||| 22 20080475 . GT G . . ANN=G|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|8/13|c.1705+46delT||||||,G|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|7/12|c.1606+983delT|||||| 22 20082228 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|8/13|c.1706-8T>C||||||,C|splice_region_variant&intron_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|7/12|c.1607-8T>C|||||| 22 20082293 . A G . . ANN=G|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|9/14|c.1763A>G|p.Lys588Arg|2192/4520|1763/2322|588/773||,G|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|8/13|c.1664A>G|p.Lys555Arg|2093/4421|1664/2223|555/740|| 22 20082352 . T C . . ANN=C|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|9/13|c.1788+34T>C||||||,C|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|8/12|c.1689+34T>C|||||| 22 20093655 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|9/13|c.1789-45C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|8/12|c.1690-45C>T|||||| 22 20093837 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|10/13|c.1889+37C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|9/12|c.1790+37C>T|||||| 22 20094211 . G A . . ANN=A|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|11/14|c.1986G>A|p.Val662Val|2415/4520|1986/2322|662/773||,A|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|10/13|c.1887G>A|p.Val629Val|2316/4421|1887/2223|629/740|| 22 20094244 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|11/13|c.1996+23C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|10/12|c.1897+23C>T|||||| 22 20094263 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|11/13|c.1996+42C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|10/12|c.1897+42C>T|||||| 22 20094762 . C A . . ANN=A|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|11/13|c.1997-32C>A||||||,A|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|10/12|c.1898-32C>A|||||| 22 20094825 . C T . . ANN=T|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_022720.6|Coding|12/14|c.2028C>T|p.Ala676Ala|2457/4520|2028/2322|676/773||,T|synonymous_variant|LOW|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|11/13|c.1929C>T|p.Ala643Ala|2358/4421|1929/2223|643/740|| 22 20096364 . C T . . ANN=T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|12/13|c.2125-49C>T||||||,T|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|11/12|c.2026-49C>T|||||| 22 20096395 . A G . . ANN=G|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|12/13|c.2125-18A>G||||||,G|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|11/12|c.2026-18A>G|||||| 22 20097518 . T C . . ANN=C|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|13/13|c.2239-30T>C||||||,C|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|12/12|c.2140-30T>C|||||| 22 20097523 . C G . . ANN=G|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|13/13|c.2239-25C>G||||||,G|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|12/12|c.2140-25C>G|||||| 22 20097530 . C A . . ANN=A|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|13/13|c.2239-18C>A||||||,A|intron_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|12/12|c.2140-18C>A|||||| 22 20097585 . C T . . ANN=T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|14/14|c.2276C>T|p.Ala759Val|2705/4520|2276/2322|759/773||,T|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|13/13|c.2177C>T|p.Ala726Val|2606/4421|2177/2223|726/740|| 22 20097602 . G A . . ANN=A|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_022720.6|Coding|14/14|c.2293G>A|p.Gly765Ser|2722/4520|2293/2322|765/773||,A|missense_variant|MODERATE|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|13/13|c.2194G>A|p.Gly732Ser|2623/4421|2194/2223|732/740|| 22 20097643 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|14/14|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|13/13|c.*12C>T|||||12| 22 20097650 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|14/14|c.*19G>C|||||19|,C|3_prime_UTR_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|13/13|c.*19G>C|||||19| 22 20097653 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|14/14|c.*22C>T|||||22|,T|3_prime_UTR_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|13/13|c.*22C>T|||||22| 22 20097656 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_022720.6|Coding|14/14|c.*25G>A|||||25|,A|3_prime_UTR_variant|MODIFIER|DGCR8|DGCR8|transcript|NM_001190326.1|Coding|13/13|c.*25G>A|||||25| 22 20100133 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|12/12|c.1831C>T|p.Pro611Ser|2220/2964|1831/1878|611/625||,A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|13/13|c.1831C>T|p.Pro611Ser|2096/2840|1831/1878|611/625||,A|3_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|12/12|c.*164C>T|||||164| 22 20100158 . G C . . ANN=C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|12/12|c.1806C>G|p.Ser602Arg|2195/2964|1806/1878|602/625||,C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|13/13|c.1806C>G|p.Ser602Arg|2071/2840|1806/1878|602/625||,C|3_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|12/12|c.*139C>G|||||139| 22 20100166 . G GC . . ANN=GC|frameshift_variant|HIGH|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|12/12|c.1797dupG|p.Pro600fs|2186/2964|1797/1878|599/625||,GC|frameshift_variant|HIGH|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|13/13|c.1797dupG|p.Pro600fs|2062/2840|1797/1878|599/625||,GC|3_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|12/12|c.*130dupG|||||130| 22 20100200 . C T . . ANN=T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|12/12|c.1764G>A|p.Arg588Arg|2153/2964|1764/1878|588/625||,T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|13/13|c.1764G>A|p.Arg588Arg|2029/2840|1764/1878|588/625||,T|3_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|12/12|c.*97G>A|||||97| 22 20100209 . C T . . ANN=T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|12/12|c.1755G>A|p.Leu585Leu|2144/2964|1755/1878|585/625||,T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|13/13|c.1755G>A|p.Leu585Leu|2020/2840|1755/1878|585/625||,T|3_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|12/12|c.*88G>A|||||88| 22 20100273 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|12/12|c.1691G>A|p.Arg564Gln|2080/2964|1691/1878|564/625||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|13/13|c.1691G>A|p.Arg564Gln|1956/2840|1691/1878|564/625||,T|3_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|12/12|c.*24G>A|||||24| 22 20100387 . G A . . ANN=A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|11/11|c.1646+47C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|11/11|c.1646+47C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|12/12|c.1646+47C>T|||||| 22 20100400 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|11/11|c.1646+34G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|11/11|c.1646+34G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|12/12|c.1646+34G>A|||||| 22 20100409 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|11/11|c.1646+25G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|11/11|c.1646+25G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|12/12|c.1646+25G>A|||||| 22 20100419 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|11/11|c.1646+15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|11/11|c.1646+15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|12/12|c.1646+15G>A|||||| 22 20100526 . G C . . ANN=C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|11/12|c.1554C>G|p.Ser518Ser|1943/2964|1554/1878|518/625||,C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|11/12|c.1554C>G|p.Ser518Ser|1943/2986|1554/1689|518/562||,C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|12/13|c.1554C>G|p.Ser518Ser|1819/2840|1554/1878|518/625|| 22 20100567 . G A . . ANN=A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|10/11|c.1550-37C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|10/11|c.1550-37C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|11/12|c.1550-37C>T|||||| 22 20100596 . T C . . ANN=C|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|10/11|c.1549+45A>G||||||,C|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|10/11|c.1549+45A>G||||||,C|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|11/12|c.1549+45A>G|||||| 22 20100615 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|10/11|c.1549+26G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|10/11|c.1549+26G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|11/12|c.1549+26G>A|||||| 22 20100674 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|10/12|c.1516G>A|p.Val506Met|1905/2964|1516/1878|506/625||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|10/12|c.1516G>A|p.Val506Met|1905/2986|1516/1689|506/562||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|11/13|c.1516G>A|p.Val506Met|1781/2840|1516/1878|506/625|| 22 20100687 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|10/12|c.1503C>T|p.Ala501Ala|1892/2964|1503/1878|501/625||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|10/12|c.1503C>T|p.Ala501Ala|1892/2986|1503/1689|501/562||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|11/13|c.1503C>T|p.Ala501Ala|1768/2840|1503/1878|501/625|| 22 20100697 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|10/12|c.1493G>A|p.Ser498Asn|1882/2964|1493/1878|498/625||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|10/12|c.1493G>A|p.Ser498Asn|1882/2986|1493/1689|498/562||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|11/13|c.1493G>A|p.Ser498Asn|1758/2840|1493/1878|498/625|| 22 20100705 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|10/12|c.1485C>T|p.Thr495Thr|1874/2964|1485/1878|495/625||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|10/12|c.1485C>T|p.Thr495Thr|1874/2986|1485/1689|495/562||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|11/13|c.1485C>T|p.Thr495Thr|1750/2840|1485/1878|495/625|| 22 20100779 . C G . . ANN=G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|9/11|c.1433-22G>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|9/11|c.1433-22G>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|10/12|c.1433-22G>C|||||| 22 20100791 . C G . . ANN=G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|9/11|c.1433-34G>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|9/11|c.1433-34G>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|10/12|c.1433-34G>C|||||| 22 20100911 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|9/11|c.1432+44G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|9/11|c.1432+44G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|10/12|c.1432+44G>A|||||| 22 20100940 . G A . . ANN=A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|9/11|c.1432+15C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|9/11|c.1432+15C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|10/12|c.1432+15C>T|||||| 22 20101025 . T C . . ANN=C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|9/12|c.1362A>G|p.Val454Val|1751/2964|1362/1878|454/625||,C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|9/12|c.1362A>G|p.Val454Val|1751/2986|1362/1689|454/562||,C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|10/13|c.1362A>G|p.Val454Val|1627/2840|1362/1878|454/625|| 22 20101045 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|8/11|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|8/11|c.1357-15G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|9/12|c.1357-15G>A|||||| 22 20101233 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|8/12|c.1332C>T|p.Gly444Gly|1721/2964|1332/1878|444/625||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|8/12|c.1332C>T|p.Gly444Gly|1721/2986|1332/1689|444/562||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|9/13|c.1332C>T|p.Gly444Gly|1597/2840|1332/1878|444/625|| 22 20101343 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|7/11|c.1234-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|7/11|c.1234-12G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|8/12|c.1234-12G>A|||||| 22 20102047 . G A . . ANN=A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|7/11|c.1233+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|7/11|c.1233+50C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|8/12|c.1233+50C>T|||||| 22 20102062 . A G . . ANN=G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|7/11|c.1233+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|7/11|c.1233+35T>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|8/12|c.1233+35T>C|||||| 22 20102064 . A G . . ANN=G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|7/11|c.1233+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|7/11|c.1233+33T>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|8/12|c.1233+33T>C|||||| 22 20102090 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|7/11|c.1233+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|7/11|c.1233+7A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|8/12|c.1233+7A>G|||||| 22 20102103 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|7/12|c.1227C>T|p.Phe409Phe|1616/2964|1227/1878|409/625||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|7/12|c.1227C>T|p.Phe409Phe|1616/2986|1227/1689|409/562||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|8/13|c.1227C>T|p.Phe409Phe|1492/2840|1227/1878|409/625|| 22 20102256 . C A . . ANN=A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|6/11|c.1121+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|6/11|c.1121+28G>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|7/12|c.1121+28G>T||||||,A|non_coding_exon_variant|MODIFIER|MIR6816|MIR6816|transcript|NR_106874.1|Noncoding|1/1|n.19G>T|||||| 22 20102298 . C A . . ANN=A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|6/12|c.1107G>T|p.Val369Val|1496/2964|1107/1878|369/625||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|6/12|c.1107G>T|p.Val369Val|1496/2986|1107/1689|369/562||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|7/13|c.1107G>T|p.Val369Val|1372/2840|1107/1878|369/625|| 22 20102308 . A G . . ANN=G|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|6/12|c.1097T>C|p.Leu366Pro|1486/2964|1097/1878|366/625||,G|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|6/12|c.1097T>C|p.Leu366Pro|1486/2986|1097/1689|366/562||,G|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|7/13|c.1097T>C|p.Leu366Pro|1362/2840|1097/1878|366/625|| 22 20102330 . T C . . ANN=C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|6/12|c.1075A>G|p.Arg359Gly|1464/2964|1075/1878|359/625||,C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|6/12|c.1075A>G|p.Arg359Gly|1464/2986|1075/1689|359/562||,C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|7/13|c.1075A>G|p.Arg359Gly|1340/2840|1075/1878|359/625|| 22 20102360 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|6/12|c.1045C>T|p.Leu349Leu|1434/2964|1045/1878|349/625||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|6/12|c.1045C>T|p.Leu349Leu|1434/2986|1045/1689|349/562||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|7/13|c.1045C>T|p.Leu349Leu|1310/2840|1045/1878|349/625|| 22 20102364 . G A . . ANN=A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|6/12|c.1041C>T|p.Thr347Thr|1430/2964|1041/1878|347/625||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|6/12|c.1041C>T|p.Thr347Thr|1430/2986|1041/1689|347/562||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|7/13|c.1041C>T|p.Thr347Thr|1306/2840|1041/1878|347/625|| 22 20102750 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|4/11|c.890+39G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|4/11|c.890+39G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|5/12|c.890+39G>A|||||| 22 20102789 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|4/12|c.890G>A|p.Arg297Gln|1279/2964|890/1878|297/625||,T|missense_variant&splice_region_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|4/12|c.890G>A|p.Arg297Gln|1279/2986|890/1689|297/562||,T|missense_variant&splice_region_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|5/13|c.890G>A|p.Arg297Gln|1155/2840|890/1878|297/625|| 22 20102842 . C T . . ANN=T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|4/12|c.837G>A|p.Val279Val|1226/2964|837/1878|279/625||,T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|4/12|c.837G>A|p.Val279Val|1226/2986|837/1689|279/562||,T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|5/13|c.837G>A|p.Val279Val|1102/2840|837/1878|279/625|| 22 20102855 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|4/12|c.824C>T|p.Pro275Leu|1213/2964|824/1878|275/625||,A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|4/12|c.824C>T|p.Pro275Leu|1213/2986|824/1689|275/562||,A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|5/13|c.824C>T|p.Pro275Leu|1089/2840|824/1878|275/625|| 22 20102871 . A C . . ANN=C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|4/12|c.808T>G|p.Cys270Gly|1197/2964|808/1878|270/625||,C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|4/12|c.808T>G|p.Cys270Gly|1197/2986|808/1689|270/562||,C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|5/13|c.808T>G|p.Cys270Gly|1073/2840|808/1878|270/625|| 22 20103012 . G A . . ANN=A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|3/11|c.709-42C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|3/11|c.709-42C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|4/12|c.709-42C>T|||||| 22 20103158 . A G . . ANN=G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|3/11|c.708+37T>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|3/11|c.708+37T>C||||||,G|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|4/12|c.708+37T>C|||||| 22 20103189 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|3/11|c.708+6A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|3/11|c.708+6A>G||||||,C|splice_region_variant&intron_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|4/12|c.708+6A>G|||||| 22 20103253 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|3/12|c.650G>A|p.Arg217Lys|1039/2964|650/1878|217/625||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|3/12|c.650G>A|p.Arg217Lys|1039/2986|650/1689|217/562||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|4/13|c.650G>A|p.Arg217Lys|915/2840|650/1878|217/625|| 22 20103263 . G T . . ANN=T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|3/12|c.640C>A|p.Leu214Ile|1029/2964|640/1878|214/625||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|3/12|c.640C>A|p.Leu214Ile|1029/2986|640/1689|214/562||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|4/13|c.640C>A|p.Leu214Ile|905/2840|640/1878|214/625|| 22 20103264 . C T . . ANN=T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|3/12|c.639G>A|p.Leu213Leu|1028/2964|639/1878|213/625||,T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|3/12|c.639G>A|p.Leu213Leu|1028/2986|639/1689|213/562||,T|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|4/13|c.639G>A|p.Leu213Leu|904/2840|639/1878|213/625|| 22 20103344 . C T . . ANN=T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/11|c.600-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/11|c.600-41G>A||||||,T|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/12|c.600-41G>A|||||| 22 20103539 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/6|c.-169G>A|||||169|,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/11|c.599+22C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/11|c.599+22C>T||||||,A|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/12|c.599+22C>T|||||| 22 20103604 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/12|c.556C>T|p.Arg186Trp|945/2964|556/1878|186/625||,A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/12|c.556C>T|p.Arg186Trp|945/2986|556/1689|186/562||,A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/13|c.556C>T|p.Arg186Trp|821/2840|556/1878|186/625||,A|5_prime_UTR_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/6|c.-104G>A|||||104| 22 20103736 . G A . . ANN=A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/12|c.424C>T|p.Arg142Cys|813/2964|424/1878|142/625||,A|missense_variant|MODERATE|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/6|c.29G>A|p.Arg10His|276/1389|29/837|10/278||,A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/12|c.424C>T|p.Arg142Cys|813/2986|424/1689|142/562||,A|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/13|c.424C>T|p.Arg142Cys|689/2840|424/1878|142/625|| 22 20103750 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/12|c.410G>A|p.Arg137His|799/2964|410/1878|137/625||,T|missense_variant|MODERATE|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/6|c.43C>T|p.Arg15Trp|290/1389|43/837|15/278||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/12|c.410G>A|p.Arg137His|799/2986|410/1689|137/562||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/13|c.410G>A|p.Arg137His|675/2840|410/1878|137/625|| 22 20103803 . A C . . ANN=C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/12|c.357T>G|p.Ala119Ala|746/2964|357/1878|119/625||,C|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/6|c.96A>C|p.Ala32Ala|343/1389|96/837|32/278||,C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/12|c.357T>G|p.Ala119Ala|746/2986|357/1689|119/562||,C|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/13|c.357T>G|p.Ala119Ala|622/2840|357/1878|119/625|| 22 20103915 . C T . . ANN=T|stop_gained|HIGH|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/6|c.208C>T|p.Arg70*|455/1389|208/837|70/278||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/12|c.245G>A|p.Arg82His|634/2964|245/1878|82/625||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/12|c.245G>A|p.Arg82His|634/2986|245/1689|82/562||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/13|c.245G>A|p.Arg82His|510/2840|245/1878|82/625||;LOF=(RANBP1|RANBP1|4|0.25);NMD=(RANBP1|RANBP1|4|0.25) 22 20103925 . T C . . ANN=C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/12|c.235A>G|p.Asn79Asp|624/2964|235/1878|79/625||,C|missense_variant|MODERATE|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/6|c.218T>C|p.Phe73Ser|465/1389|218/837|73/278||,C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/12|c.235A>G|p.Asn79Asp|624/2986|235/1689|79/562||,C|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/13|c.235A>G|p.Asn79Asp|500/2840|235/1878|79/625|| 22 20103953 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/6|c.246G>A|p.Glu82Glu|493/1389|246/837|82/278||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/12|c.207C>T|p.Thr69Thr|596/2964|207/1878|69/625||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/12|c.207C>T|p.Thr69Thr|596/2986|207/1689|69/562||,A|synonymous_variant|LOW|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/13|c.207C>T|p.Thr69Thr|472/2840|207/1878|69/625|| 22 20104101 . C T . . ANN=T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|2/12|c.59G>A|p.Ser20Asn|448/2964|59/1878|20/625||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|2/12|c.59G>A|p.Ser20Asn|448/2986|59/1689|20/562||,T|missense_variant|MODERATE|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|3/13|c.59G>A|p.Ser20Asn|324/2840|59/1878|20/625||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/5|c.246+148C>T|||||| 22 20104146 . A C . . ANN=C|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|1/11|c.25-11T>G||||||,C|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/5|c.246+193A>C||||||,C|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|1/11|c.25-11T>G||||||,C|intron_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|2/12|c.25-11T>G|||||| 22 20104430 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_022727.5|Coding|1/12|c.-1G>A|||||1|,T|5_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_001257994.1|Coding|1/12|c.-1G>A|||||1|,T|5_prime_UTR_variant|MODIFIER|TRMT2A|TRMT2A|transcript|NM_182984.4|Coding|2/13|c.-1G>A|||||1|,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|1/5|c.246+477C>T|||||| 22 20106681 . G A . . ANN=A|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|2/5|c.383+9G>A||||||,A|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|2/5|c.152+9G>A||||||,A|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_002882.3|Coding|2/5|c.152+9G>A||||||,A|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|2/5|c.2+9G>A|||||| 22 20109760 . C G . . ANN=G|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|2/5|c.384-27C>G||||||,G|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|2/5|c.153-27C>G||||||,G|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_002882.3|Coding|2/5|c.153-27C>G||||||,G|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|2/5|c.3-27C>G|||||| 22 20109764 . TAACCTCA T . . ANN=T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|2/5|c.384-22_384-16delAACCTCA||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|2/5|c.153-22_153-16delAACCTCA||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_002882.3|Coding|2/5|c.153-22_153-16delAACCTCA||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|2/5|c.3-22_3-16delAACCTCA|||||| 22 20109977 . C T . . ANN=T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|3/5|c.541+33C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|3/5|c.310+33C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_002882.3|Coding|3/5|c.310+33C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|3/5|c.160+33C>T|||||| 22 20112812 . C T . . ANN=T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|3/5|c.542-19C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|3/5|c.311-19C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_002882.3|Coding|3/5|c.311-19C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|3/5|c.161-19C>T|||||| 22 20112840 . T C . . ANN=C|missense_variant|MODERATE|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|4/6|c.551T>C|p.Met184Thr|798/1389|551/837|184/278||,C|missense_variant|MODERATE|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|4/6|c.320T>C|p.Met107Thr|546/1134|320/603|107/200||,C|missense_variant|MODERATE|RANBP1|RANBP1|transcript|NM_002882.3|Coding|4/6|c.320T>C|p.Met107Thr|546/1137|320/606|107/201||,C|missense_variant|MODERATE|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|4/6|c.170T>C|p.Met57Thr|666/1254|170/453|57/150|| 22 20113005 . C T . . ANN=T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|4/5|c.670+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|4/5|c.439+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_002882.3|Coding|4/5|c.439+46C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|4/5|c.289+46C>T|||||| 22 20113777 . T C . . ANN=C|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|4/5|c.671-49T>C||||||,C|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|4/5|c.440-49T>C||||||,C|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_002882.3|Coding|4/5|c.440-49T>C||||||,C|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|4/5|c.290-49T>C|||||| 22 20113809 . C T . . ANN=T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|4/5|c.671-17C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|4/5|c.440-17C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_002882.3|Coding|4/5|c.440-17C>T||||||,T|intron_variant|MODIFIER|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|4/5|c.290-17C>T|||||| 22 20113896 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|5/5|c.736+5C>T||||||,T|splice_region_variant&intron_variant|LOW|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|5/5|c.505+5C>T||||||,T|splice_region_variant&intron_variant|LOW|RANBP1|RANBP1|transcript|NM_002882.3|Coding|5/5|c.505+5C>T||||||,T|splice_region_variant&intron_variant|LOW|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|5/5|c.355+5C>T|||||| 22 20114479 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|6/6|c.507A>G|p.Gly169Gly|733/1134|507/603|169/200||,G|splice_region_variant&synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|6/6|c.357A>G|p.Gly119Gly|853/1254|357/453|119/150||,G|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|6/6|c.741A>G|p.Gly247Gly|988/1389|741/837|247/278||,G|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_002882.3|Coding|6/6|c.510A>G|p.Gly170Gly|736/1137|510/606|170/201|| 22 20114500 . C T . . ANN=T|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|6/6|c.762C>T|p.Ala254Ala|1009/1389|762/837|254/278||,T|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|6/6|c.528C>T|p.Ala176Ala|754/1134|528/603|176/200||,T|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_002882.3|Coding|6/6|c.531C>T|p.Ala177Ala|757/1137|531/606|177/201||,T|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|6/6|c.378C>T|p.Ala126Ala|874/1254|378/453|126/150|| 22 20114512 . G A . . ANN=A|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|6/6|c.774G>A|p.Ala258Ala|1021/1389|774/837|258/278||,A|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|6/6|c.540G>A|p.Ala180Ala|766/1134|540/603|180/200||,A|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_002882.3|Coding|6/6|c.543G>A|p.Ala181Ala|769/1137|543/606|181/201||,A|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|6/6|c.390G>A|p.Ala130Ala|886/1254|390/453|130/150|| 22 20114518 . G A . . ANN=A|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278639.1|Coding|6/6|c.780G>A|p.Lys260Lys|1027/1389|780/837|260/278||,A|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278640.1|Coding|6/6|c.546G>A|p.Lys182Lys|772/1134|546/603|182/200||,A|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_002882.3|Coding|6/6|c.549G>A|p.Lys183Lys|775/1137|549/606|183/201||,A|synonymous_variant|LOW|RANBP1|RANBP1|transcript|NM_001278641.1|Coding|6/6|c.396G>A|p.Lys132Lys|892/1254|396/453|132/150|| 22 20126702 . C T . . ANN=T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|1/10|c.105-15C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|1/10|c.105-15C>T|||||| 22 20126741 . G T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|2/11|c.129G>T|p.Val43Val|236/3220|129/2337|43/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|2/11|c.129G>T|p.Val43Val|236/5012|129/2298|43/765|| 22 20126829 . T C . . ANN=C|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|2/11|c.217T>C|p.Phe73Leu|324/3220|217/2337|73/778||,C|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|2/11|c.217T>C|p.Phe73Leu|324/5012|217/2298|73/765|| 22 20127026 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|3/11|c.252C>T|p.Asp84Asp|359/3220|252/2337|84/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|3/11|c.252C>T|p.Asp84Asp|359/5012|252/2298|84/765|| 22 20127032 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|3/11|c.258C>T|p.Phe86Phe|365/3220|258/2337|86/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|3/11|c.258C>T|p.Phe86Phe|365/5012|258/2298|86/765|| 22 20127226 . G T . . ANN=T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|3/10|c.385-17G>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|3/10|c.385-17G>T|||||| 22 20127267 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|4/11|c.409G>A|p.Val137Ile|516/3220|409/2337|137/778||,A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|4/11|c.409G>A|p.Val137Ile|516/5012|409/2298|137/765|| 22 20127374 . G A . . ANN=A|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|4/11|c.516G>A|p.Leu172Leu|623/3220|516/2337|172/778||,A|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|4/11|c.516G>A|p.Leu172Leu|623/5012|516/2298|172/765|| 22 20127408 . A G . . ANN=G|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|4/11|c.550A>G|p.Thr184Ala|657/3220|550/2337|184/778||,G|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|4/11|c.550A>G|p.Thr184Ala|657/5012|550/2298|184/765|| 22 20128402 . T C . . ANN=C|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|7/11|c.761T>C|p.Val254Ala|868/3220|761/2337|254/778||,C|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|7/11|c.761T>C|p.Val254Ala|868/5012|761/2298|254/765|| 22 20128426 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|7/11|c.785C>T|p.Ala262Val|892/3220|785/2337|262/778||,T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|7/11|c.785C>T|p.Ala262Val|892/5012|785/2298|262/765|| 22 20128733 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|7/10|c.895-7C>T||||||,T|splice_region_variant&intron_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|7/10|c.895-7C>T|||||| 22 20128851 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|8/11|c.1006G>A|p.Gly336Ser|1113/3220|1006/2337|336/778||,A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|8/11|c.1006G>A|p.Gly336Ser|1113/5012|1006/2298|336/765|| 22 20128880 . G A . . ANN=A|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|8/10|c.1015+20G>A||||||,A|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|8/10|c.1015+20G>A|||||| 22 20128881 . A C . . ANN=C|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|8/10|c.1015+21A>C||||||,C|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|8/10|c.1015+21A>C|||||| 22 20128956 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|9/11|c.1028C>T|p.Ser343Leu|1135/3220|1028/2337|343/778||,T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|9/11|c.1028C>T|p.Ser343Leu|1135/5012|1028/2298|343/765|| 22 20128978 . G A . . ANN=A|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|9/11|c.1050G>A|p.Pro350Pro|1157/3220|1050/2337|350/778||,A|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|9/11|c.1050G>A|p.Pro350Pro|1157/5012|1050/2298|350/765|| 22 20128986 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|9/11|c.1058C>T|p.Ala353Val|1165/3220|1058/2337|353/778||,T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|9/11|c.1058C>T|p.Ala353Val|1165/5012|1058/2298|353/765|| 22 20129072 . C T . . ANN=T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|9/10|c.1125+19C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|9/10|c.1125+19C>T|||||| 22 20130321 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1168C>T|p.Arg390Cys|1275/3220|1168/2337|390/778||,T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1168C>T|p.Arg390Cys|1275/5012|1168/2298|390/765|| 22 20130341 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1188C>T|p.Ser396Ser|1295/3220|1188/2337|396/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1188C>T|p.Ser396Ser|1295/5012|1188/2298|396/765|| 22 20130416 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1263C>T|p.Ser421Ser|1370/3220|1263/2337|421/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1263C>T|p.Ser421Ser|1370/5012|1263/2298|421/765|| 22 20130455 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1302C>T|p.Ser434Ser|1409/3220|1302/2337|434/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1302C>T|p.Ser434Ser|1409/5012|1302/2298|434/765|| 22 20130558 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1405G>A|p.Ala469Thr|1512/3220|1405/2337|469/778||,A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1405G>A|p.Ala469Thr|1512/5012|1405/2298|469/765|| 22 20130626 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1473C>T|p.His491His|1580/3220|1473/2337|491/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1473C>T|p.His491His|1580/5012|1473/2298|491/765|| 22 20130654 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1501G>A|p.Val501Met|1608/3220|1501/2337|501/778||,A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1501G>A|p.Val501Met|1608/5012|1501/2298|501/765|| 22 20130697 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1544G>A|p.Gly515Asp|1651/3220|1544/2337|515/778||,A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1544G>A|p.Gly515Asp|1651/5012|1544/2298|515/765|| 22 20130885 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1732G>A|p.Val578Ile|1839/3220|1732/2337|578/778||,A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1732G>A|p.Val578Ile|1839/5012|1732/2298|578/765|| 22 20130908 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1755C>T|p.Tyr585Tyr|1862/3220|1755/2337|585/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1755C>T|p.Tyr585Tyr|1862/5012|1755/2298|585/765|| 22 20130920 . G A . . ANN=A|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1767G>A|p.Gln589Gln|1874/3220|1767/2337|589/778||,A|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1767G>A|p.Gln589Gln|1874/5012|1767/2298|589/765|| 22 20130955 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1802C>T|p.Ala601Val|1909/3220|1802/2337|601/778||,T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1802C>T|p.Ala601Val|1909/5012|1802/2298|601/765|| 22 20131018 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1865C>T|p.Pro622Leu|1972/3220|1865/2337|622/778||,T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1865C>T|p.Pro622Leu|1972/5012|1865/2298|622/765|| 22 20131055 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1902C>T|p.Ser634Ser|2009/3220|1902/2337|634/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1902C>T|p.Ser634Ser|2009/5012|1902/2298|634/765|| 22 20131115 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1962C>T|p.Asn654Asn|2069/3220|1962/2337|654/778||,T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1962C>T|p.Asn654Asn|2069/5012|1962/2298|654/765|| 22 20131116 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1963G>A|p.Ala655Thr|2070/3220|1963/2337|655/778||,A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1963G>A|p.Ala655Thr|2070/5012|1963/2298|655/765|| 22 20131121 . G C . . ANN=C|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.1968G>C|p.Pro656Pro|2075/3220|1968/2337|656/778||,C|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.1968G>C|p.Pro656Pro|2075/5012|1968/2298|656/765|| 22 20131213 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/11|c.2060G>A|p.Gly687Asp|2167/3220|2060/2337|687/778||,A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/11|c.2060G>A|p.Gly687Asp|2167/5012|2060/2298|687/765|| 22 20132749 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|10/10|c.2127-3C>T||||||,T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/10|c.2126+1470C>T|||||| 22 20132841 . G A . . ANN=A|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|11/11|c.2216G>A|p.Gly739Glu|2323/5012|2216/2298|739/765||,A|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/10|c.2126+1562G>A|||||| 22 20132858 . A G . . ANN=G|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|11/11|c.2233A>G|p.Thr745Ala|2340/5012|2233/2298|745/765||,G|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/10|c.2126+1579A>G|||||| 22 20132861 . C T . . ANN=T|missense_variant|MODERATE|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|11/11|c.2236C>T|p.Arg746Trp|2343/5012|2236/2298|746/765||,T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/10|c.2126+1582C>T|||||| 22 20132890 . C T . . ANN=T|synonymous_variant|LOW|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|11/11|c.2265C>T|p.Gly755Gly|2372/5012|2265/2298|755/765||,T|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/10|c.2126+1611C>T|||||| 22 20132932 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|11/11|c.*9T>C|||||9|,C|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/10|c.2127-1612T>C|||||| 22 20132972 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_013373.3|Coding|11/11|c.*49A>G|||||49|,G|intron_variant|MODIFIER|ZDHHC8|ZDHHC8|transcript|NM_001185024.1|Coding|10/10|c.2127-1572A>G|||||| 22 20229461 . G A . . ANN=A|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.1195C>T|p.Arg399Trp|1396/1919|1195/1422|399/473|| 22 20229474 . C T . . ANN=T|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.1182G>A|p.Pro394Pro|1383/1919|1182/1422|394/473|| 22 20229501 . C A . . ANN=A|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.1155G>T|p.Gly385Gly|1356/1919|1155/1422|385/473|| 22 20229561 . G A . . ANN=A|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.1095C>T|p.Pro365Pro|1296/1919|1095/1422|365/473|| 22 20229564 . C T . . ANN=T|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.1092G>A|p.Pro364Pro|1293/1919|1092/1422|364/473|| 22 20229569 . C T . . ANN=T|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.1087G>A|p.Val363Met|1288/1919|1087/1422|363/473|| 22 20229635 . C A . . ANN=A|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.1021G>T|p.Ala341Ser|1222/1919|1021/1422|341/473|| 22 20229716 . C T . . ANN=T|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.940G>A|p.Gly314Ser|1141/1919|940/1422|314/473|| 22 20230007 . C G . . ANN=G|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.649G>C|p.Val217Leu|850/1919|649/1422|217/473|| 22 20230080 . G A . . ANN=A|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.576C>T|p.Ser192Ser|777/1919|576/1422|192/473|| 22 20230163 . C T . . ANN=T|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.493G>A|p.Ala165Thr|694/1919|493/1422|165/473|| 22 20230264 . C T . . ANN=T|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.392G>A|p.Arg131His|593/1919|392/1422|131/473|| 22 20230301 . G A . . ANN=A|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.355C>T|p.Arg119Trp|556/1919|355/1422|119/473|| 22 20230317 . G A . . ANN=A|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.339C>T|p.Ser113Ser|540/1919|339/1422|113/473|| 22 20230386 . C T . . ANN=T|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.270G>A|p.Ser90Ser|471/1919|270/1422|90/473|| 22 20230390 . T G . . ANN=G|missense_variant|MODERATE|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.266A>C|p.His89Pro|467/1919|266/1422|89/473|| 22 20230464 . C A . . ANN=A|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.192G>T|p.Leu64Leu|393/1919|192/1422|64/473|| 22 20230572 . T C . . ANN=C|synonymous_variant|LOW|RTN4R|RTN4R|transcript|NM_023004.5|Coding|2/2|c.84A>G|p.Pro28Pro|285/1919|84/1422|28/473|| 22 20302276 . A T . . ANN=T|missense_variant|MODERATE|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|5/5|c.585T>A|p.Asn195Lys|702/1217|585/663|195/220|| 22 20302837 . C G . . ANN=G|intron_variant|MODIFIER|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|4/4|c.513+22G>C|||||| 22 20302968 . C T . . ANN=T|missense_variant|MODERATE|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|4/5|c.404G>A|p.Arg135Gln|521/1217|404/663|135/220|| 22 20302997 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|4/5|c.375C>T|p.Ala125Ala|492/1217|375/663|125/220|| 22 20303017 . C T . . ANN=T|intron_variant|MODIFIER|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|3/4|c.373-18G>A|||||| 22 20303019 . C T . . ANN=T|intron_variant|MODIFIER|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|3/4|c.373-20G>A|||||| 22 20303024 . G C . . ANN=C|intron_variant|MODIFIER|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|3/4|c.373-25C>G|||||| 22 20303664 . G A . . ANN=A|missense_variant|MODERATE|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|3/5|c.350C>T|p.Ala117Val|467/1217|350/663|117/220|| 22 20307346 . G GC . . ANN=GC|intron_variant|MODIFIER|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|1/4|c.111-25_111-24insG|||||| 22 20307520 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|DGCR6L|DGCR6L|transcript|NM_033257.3|Coding|1/5|c.-9G>A|||||9| 22 20457872 . C CA . . ANN=CA|frameshift_variant|HIGH|RIMBP3|RIMBP3|transcript|NM_015672.1|Coding|1/1|c.3429dupT|p.Gly1144fs|3914/5793|3429/4920|1143/1639||;LOF=(RIMBP3|RIMBP3|1|1.00) 22 20458100 . A ACACCTG . . ANN=ACACCTG|inframe_insertion|MODERATE|RIMBP3|RIMBP3|transcript|NM_015672.1|Coding|1/1|c.3196_3201dupCAGGTG|p.Gln1066_Val1067dup|3686/5793|3201/4920|1067/1639|| 22 20748934 . C T . . ANN=T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|2/6|c.16C>T|p.Pro6Ser|302/3716|16/1935|6/644||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|1/4|c.16C>T|p.Pro6Ser|530/3858|16/537|6/178||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|1/5|c.16C>T|p.Pro6Ser|530/3944|16/1935|6/644||,T|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|1/4|c.-180+310C>T||||||,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|1/6|n.530C>T|||||| 22 20748994 . A G . . ANN=G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|2/5|c.34+42A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|1/3|c.34+42A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|1/4|c.-180+370A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|1/4|c.34+42A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|1/5|n.548+42A>G|||||| 22 20749694 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|3/6|c.106G>A|p.Glu36Lys|392/3716|106/1935|36/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|2/5|c.106G>A|p.Glu36Lys|620/3944|106/1935|36/644||,A|5_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|2/5|c.-108G>A|||||5321|,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|1/3|c.34+742G>A||||||,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|2/6|n.620G>A|||||| 22 20754872 . A G . . ANN=G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|3/5|c.121-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|1/3|c.35-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|2/4|c.-93-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|2/4|c.121-50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|3/5|n.731-50A>G|||||| 22 20755067 . C G . . ANN=G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|4/5|c.247+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|2/3|c.161+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|3/4|c.34+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|3/4|c.247+19C>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|4/5|n.857+19C>G|||||| 22 20755076 . C T . . ANN=T|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|4/5|c.247+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|2/3|c.161+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|3/4|c.34+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|3/4|c.247+28C>T||||||,T|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|4/5|n.857+28C>T|||||| 22 20755097 . T C . . ANN=C|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|4/5|c.247+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|2/3|c.161+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|3/4|c.34+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|3/4|c.247+49T>C||||||,C|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|4/5|n.857+49T>C|||||| 22 20755098 . A G . . ANN=G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|4/5|c.247+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|2/3|c.161+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|3/4|c.34+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|3/4|c.247+50A>G||||||,G|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|4/5|n.857+50A>G|||||| 22 20755519 . G A . . ANN=A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|4/5|c.248-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|2/3|c.162-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|3/4|c.35-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|3/4|c.248-48G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|4/5|n.858-48G>A|||||| 22 20755527 . G A . . ANN=A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|4/5|c.248-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|2/3|c.162-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|3/4|c.35-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|3/4|c.248-40G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|4/5|n.858-40G>A|||||| 22 20755631 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|5/6|c.312G>A|p.Met104Ile|598/3716|312/1935|104/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|3/4|c.226G>A|p.Ala76Thr|740/3858|226/537|76/178||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|4/5|c.99G>A|p.Met33Ile|498/3616|99/1722|33/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|4/5|c.312G>A|p.Met104Ile|826/3944|312/1935|104/644||,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|5/6|n.922G>A|||||| 22 20759620 . G A . . ANN=A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|5/5|c.344-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|3/3|c.258-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|4/4|c.131-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_003426.3|Coding|4/4|c.344-47G>A||||||,A|intron_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|5/5|n.954-47G>A|||||| 22 20759672 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.349G>A|p.Glu117Lys|635/3716|349/1935|117/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.263G>A|p.Gly88Glu|777/3858|263/537|88/178||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.136G>A|p.Glu46Lys|535/3616|136/1722|46/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.349G>A|p.Glu117Lys|863/3944|349/1935|117/644||,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.959G>A|||||| 22 20759804 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.481G>A|p.Ala161Thr|767/3716|481/1935|161/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.395G>A|p.Gly132Asp|909/3858|395/537|132/178||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.268G>A|p.Ala90Thr|667/3616|268/1722|90/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.481G>A|p.Ala161Thr|995/3944|481/1935|161/644||,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.1091G>A|||||| 22 20759825 . C A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.502C>A|p.Pro168Thr|788/3716|502/1935|168/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.416C>A|p.Thr139Asn|930/3858|416/537|139/178||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.289C>A|p.Pro97Thr|688/3616|289/1722|97/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.502C>A|p.Pro168Thr|1016/3944|502/1935|168/644||,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.1112C>A|||||| 22 20759967 . C T . . ANN=T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.644C>T|p.Ala215Val|930/3716|644/1935|215/644||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.431C>T|p.Ala144Val|830/3616|431/1722|144/573||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.644C>T|p.Ala215Val|1158/3944|644/1935|215/644||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*21C>T|||||21|,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.1254C>T|||||| 22 20760074 . G T . . ANN=T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.751G>T|p.Gly251Cys|1037/3716|751/1935|251/644||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.538G>T|p.Gly180Cys|937/3616|538/1722|180/573||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.751G>T|p.Gly251Cys|1265/3944|751/1935|251/644||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*128G>T|||||128|,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.1361G>T|||||| 22 20760106 . C T . . ANN=T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.783C>T|p.Ser261Ser|1069/3716|783/1935|261/644||,T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.570C>T|p.Ser190Ser|969/3616|570/1722|190/573||,T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.783C>T|p.Ser261Ser|1297/3944|783/1935|261/644||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*160C>T|||||160|,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.1393C>T|||||| 22 20760178 . C T . . ANN=T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.855C>T|p.Phe285Phe|1141/3716|855/1935|285/644||,T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.642C>T|p.Phe214Phe|1041/3616|642/1722|214/573||,T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.855C>T|p.Phe285Phe|1369/3944|855/1935|285/644||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*232C>T|||||232|,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.1465C>T|||||| 22 20760516 . C A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1193C>A|p.Thr398Asn|1479/3716|1193/1935|398/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.980C>A|p.Thr327Asn|1379/3616|980/1722|327/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1193C>A|p.Thr398Asn|1707/3944|1193/1935|398/644||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*570C>A|||||570|,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.1803C>A|||||| 22 20760795 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1472G>A|p.Arg491Gln|1758/3716|1472/1935|491/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1259G>A|p.Arg420Gln|1658/3616|1259/1722|420/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1472G>A|p.Arg491Gln|1986/3944|1472/1935|491/644||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*849G>A|||||849|,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2082G>A|||||| 22 20760977 . G A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1654G>A|p.Gly552Arg|1940/3716|1654/1935|552/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1441G>A|p.Gly481Arg|1840/3616|1441/1722|481/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1654G>A|p.Gly552Arg|2168/3944|1654/1935|552/644||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1031G>A|||||1031|,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2264G>A|||||| 22 20761018 . C T . . ANN=T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1695C>T|p.Phe565Phe|1981/3716|1695/1935|565/644||,T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1482C>T|p.Phe494Phe|1881/3616|1482/1722|494/573||,T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1695C>T|p.Phe565Phe|2209/3944|1695/1935|565/644||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1072C>T|||||1072|,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2305C>T|||||| 22 20761028 . T C . . ANN=C|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1705T>C|p.Ser569Pro|1991/3716|1705/1935|569/644||,C|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1492T>C|p.Ser498Pro|1891/3616|1492/1722|498/573||,C|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1705T>C|p.Ser569Pro|2219/3944|1705/1935|569/644||,C|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1082T>C|||||1082|,C|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2315T>C|||||| 22 20761033 . C A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1710C>A|p.His570Gln|1996/3716|1710/1935|570/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1497C>A|p.His499Gln|1896/3616|1497/1722|499/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1710C>A|p.His570Gln|2224/3944|1710/1935|570/644||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1087C>A|||||1087|,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2320C>A|||||| 22 20761052 . C G . . ANN=G|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1729C>G|p.Leu577Val|2015/3716|1729/1935|577/644||,G|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1516C>G|p.Leu506Val|1915/3616|1516/1722|506/573||,G|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1729C>G|p.Leu577Val|2243/3944|1729/1935|577/644||,G|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1106C>G|||||1106|,G|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2339C>G|||||| 22 20761063 . G A . . ANN=A|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1740G>A|p.Glu580Glu|2026/3716|1740/1935|580/644||,A|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1527G>A|p.Glu509Glu|1926/3616|1527/1722|509/573||,A|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1740G>A|p.Glu580Glu|2254/3944|1740/1935|580/644||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1117G>A|||||1117|,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2350G>A|||||| 22 20761079 . A G . . ANN=G|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1756A>G|p.Ile586Val|2042/3716|1756/1935|586/644||,G|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1543A>G|p.Ile515Val|1942/3616|1543/1722|515/573||,G|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1756A>G|p.Ile586Val|2270/3944|1756/1935|586/644||,G|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1133A>G|||||1133|,G|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2366A>G|||||| 22 20761099 . G C . . ANN=C|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1776G>C|p.Leu592Leu|2062/3716|1776/1935|592/644||,C|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1563G>C|p.Leu521Leu|1962/3616|1563/1722|521/573||,C|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1776G>C|p.Leu592Leu|2290/3944|1776/1935|592/644||,C|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1153G>C|||||1153|,C|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2386G>C|||||| 22 20761111 . C T . . ANN=T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1788C>T|p.Tyr596Tyr|2074/3716|1788/1935|596/644||,T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1575C>T|p.Tyr525Tyr|1974/3616|1575/1722|525/573||,T|synonymous_variant|LOW|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1788C>T|p.Tyr596Tyr|2302/3944|1788/1935|596/644||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1165C>T|||||1165|,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2398C>T|||||| 22 20761112 . T A . . ANN=A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1789T>A|p.Tyr597Asn|2075/3716|1789/1935|597/644||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1576T>A|p.Tyr526Asn|1975/3616|1576/1722|526/573||,A|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1789T>A|p.Tyr597Asn|2303/3944|1789/1935|597/644||,A|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1166T>A|||||1166|,A|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2399T>A|||||| 22 20761192 . G T . . ANN=T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1869G>T|p.Lys623Asn|2155/3716|1869/1935|623/644||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1656G>T|p.Lys552Asn|2055/3616|1656/1722|552/573||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1869G>T|p.Lys623Asn|2383/3944|1869/1935|623/644||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1246G>T|||||1246|,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2479G>T|||||| 22 20761193 . C T . . ANN=T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256524.1|Coding|6/6|c.1870C>T|p.Leu624Phe|2156/3716|1870/1935|624/644||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_001256525.1|Coding|5/5|c.1657C>T|p.Leu553Phe|2056/3616|1657/1722|553/573||,T|missense_variant|MODERATE|ZNF74|ZNF74|transcript|NM_003426.3|Coding|5/5|c.1870C>T|p.Leu624Phe|2384/3944|1870/1935|624/644||,T|3_prime_UTR_variant|MODIFIER|ZNF74|ZNF74|transcript|NM_001256523.1|Coding|4/4|c.*1247C>T|||||1247|,T|non_coding_exon_variant|MODIFIER|ZNF74|ZNF74|transcript|NR_046282.1|Noncoding|6/6|n.2480C>T|||||| 22 20779768 . G C . . ANN=C|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|12/12|c.2508C>G|p.Arg836Arg|2613/3507|2508/2611|836/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|12/12|c.2493C>G|p.Arg831Arg|2598/3492|2493/2596|831/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20779822 . G C . . ANN=C|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|12/12|c.2454C>G|p.Arg818Arg|2559/3507|2454/2611|818/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|12/12|c.2439C>G|p.Arg813Arg|2544/3492|2439/2596|813/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20779892 . C T . . ANN=T|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|12/12|c.2384G>A|p.Gly795Glu|2489/3507|2384/2611|795/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|12/12|c.2369G>A|p.Gly790Glu|2474/3492|2369/2596|790/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20779947 . G C . . ANN=C|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|12/12|c.2329C>G|p.Arg777Gly|2434/3507|2329/2611|777/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|12/12|c.2314C>G|p.Arg772Gly|2419/3492|2314/2596|772/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20779973 . C CG . . ANN=CG|frameshift_variant|HIGH|SCARF2|SCARF2|transcript|NM_153334.6|Coding|12/12|c.2302dupC|p.Arg768fs|2407/3507|2302/2611|768/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,CG|frameshift_variant|HIGH|SCARF2|SCARF2|transcript|NM_182895.4|Coding|12/12|c.2287dupC|p.Arg763fs|2392/3492|2287/2596|763/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;LOF=(SCARF2|SCARF2|2|1.00) 22 20780026 . GC G . . ANN=G|frameshift_variant&splice_region_variant|HIGH|SCARF2|SCARF2|transcript|NM_153334.6|Coding|12/12|c.2249delG|p.Arg750fs|2354/3507|2249/2611|750/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|frameshift_variant&splice_region_variant|HIGH|SCARF2|SCARF2|transcript|NM_182895.4|Coding|12/12|c.2234delG|p.Arg745fs|2339/3492|2234/2596|745/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;LOF=(SCARF2|SCARF2|2|1.00) 22 20780029 . G C . . ANN=C|splice_region_variant&synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|12/12|c.2247C>G|p.Arg749Arg|2352/3507|2247/2611|749/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|splice_region_variant&synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|12/12|c.2232C>G|p.Arg744Arg|2337/3492|2232/2596|744/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20780031 . G C . . ANN=C|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|SCARF2|SCARF2|transcript|NM_153334.6|Coding|11/11|c.2246+1C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|SCARF2|SCARF2|transcript|NM_182895.4|Coding|11/11|c.2231+1C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;LOF=(SCARF2|SCARF2|2|1.00) 22 20780091 . C G . . ANN=G|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|11/12|c.2187G>C|p.Pro729Pro|2292/3507|2187/2611|729/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|11/12|c.2172G>C|p.Pro724Pro|2277/3492|2172/2596|724/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20780097 . G C . . ANN=C|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|11/12|c.2181C>G|p.Arg727Arg|2286/3507|2181/2611|727/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|11/12|c.2166C>G|p.Arg722Arg|2271/3492|2166/2596|722/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20780296 . G A . . ANN=A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|11/12|c.1982C>T|p.Pro661Leu|2087/3507|1982/2611|661/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|11/12|c.1967C>T|p.Pro656Leu|2072/3492|1967/2596|656/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20780316 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|11/12|c.1962C>T|p.Pro654Pro|2067/3507|1962/2611|654/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|11/12|c.1947C>T|p.Pro649Pro|2052/3492|1947/2596|649/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20780474 . C T . . ANN=T|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|11/12|c.1804G>A|p.Glu602Lys|1909/3507|1804/2611|602/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|11/12|c.1789G>A|p.Glu597Lys|1894/3492|1789/2596|597/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20781670 . T C . . ANN=C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|10/11|c.1708+15A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|10/11|c.1693+15A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20781725 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|10/12|c.1668C>T|p.Asp556Asp|1773/3507|1668/2611|556/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|10/12|c.1653C>T|p.Asp551Asp|1758/3492|1653/2596|551/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20781732 . G A . . ANN=A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|10/12|c.1661C>T|p.Ser554Leu|1766/3507|1661/2611|554/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|10/12|c.1646C>T|p.Ser549Leu|1751/3492|1646/2596|549/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20781827 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|10/12|c.1566C>T|p.His522His|1671/3507|1566/2611|522/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|10/12|c.1551C>T|p.His517His|1656/3492|1551/2596|517/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20781869 . T C . . ANN=C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|9/11|c.1556-32A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|9/11|c.1541-32A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20781872 . A T . . ANN=T|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|9/11|c.1556-35T>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|9/11|c.1541-35T>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20781886 . G A . . ANN=A|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|9/11|c.1556-49C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|9/11|c.1541-49C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20783485 . C A . . ANN=A|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|9/11|c.1555+27G>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|9/11|c.1540+27G>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20783575 . T C . . ANN=C|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|9/12|c.1492A>G|p.Ser498Gly|1597/3507|1492/2611|498/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|9/12|c.1477A>G|p.Ser493Gly|1582/3492|1477/2596|493/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20783692 . G C . . ANN=C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|8/11|c.1425-50C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|8/11|c.1425-65C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20783783 . G C . . ANN=C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|8/11|c.1424+40C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|8/11|c.1424+40C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20783815 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|8/11|c.1424+8C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|splice_region_variant&intron_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|8/11|c.1424+8C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20783834 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|8/12|c.1413C>T|p.Asp471Asp|1518/3507|1413/2611|471/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|8/12|c.1413C>T|p.Asp471Asp|1518/3492|1413/2596|471/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20783960 . C T . . ANN=T|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|7/11|c.1307-20G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|7/11|c.1307-20G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20783986 . T C . . ANN=C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|7/11|c.1306+31A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|7/11|c.1306+31A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20784050 . T A . . ANN=A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|7/12|c.1273A>T|p.Thr425Ser|1378/3507|1273/2611|425/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|7/12|c.1273A>T|p.Thr425Ser|1378/3492|1273/2596|425/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20784152 . G A . . ANN=A|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|6/11|c.1203-32C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|6/11|c.1203-32C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20784168 . GC G . . ANN=G|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|6/11|c.1203-49delG||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|6/11|c.1203-49delG||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20784797 . A G . . ANN=G|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|6/12|c.1121T>C|p.Phe374Ser|1226/3507|1121/2611|374/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|6/12|c.1121T>C|p.Phe374Ser|1226/3492|1121/2596|374/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20784865 . C T . . ANN=T|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|5/11|c.1074-21G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|5/11|c.1074-21G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20784892 . C T . . ANN=T|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|5/11|c.1074-48G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|5/11|c.1074-48G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20785078 . G T . . ANN=T|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|5/12|c.972C>A|p.Gly324Gly|1077/3507|972/2611|324/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|5/12|c.972C>A|p.Gly324Gly|1077/3492|972/2596|324/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20785257 . G C . . ANN=C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|4/11|c.854+48C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|4/11|c.854+48C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20785533 . C T . . ANN=T|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|4/12|c.626G>A|p.Arg209His|731/3507|626/2611|209/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|4/12|c.626G>A|p.Arg209His|731/3492|626/2596|209/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20785639 . G A . . ANN=A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|4/12|c.520C>T|p.Pro174Ser|625/3507|520/2611|174/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|4/12|c.520C>T|p.Pro174Ser|625/3492|520/2596|174/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20786033 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|3/12|c.333C>T|p.Thr111Thr|438/3507|333/2611|111/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|splice_region_variant&synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|3/12|c.333C>T|p.Thr111Thr|438/3492|333/2596|111/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20786125 . C T . . ANN=T|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|3/12|c.241G>A|p.Glu81Lys|346/3507|241/2611|81/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|3/12|c.241G>A|p.Glu81Lys|346/3492|241/2596|81/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20786126 . G A . . ANN=A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_153334.6|Coding|3/12|c.240C>T|p.Cys80Cys|345/3507|240/2611|80/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|synonymous_variant|LOW|SCARF2|SCARF2|transcript|NM_182895.4|Coding|3/12|c.240C>T|p.Cys80Cys|345/3492|240/2596|80/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20786271 . G C . . ANN=C|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|2/12|c.178C>G|p.Gln60Glu|283/3507|178/2611|60/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|2/12|c.178C>G|p.Gln60Glu|283/3492|178/2596|60/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20791821 . G A . . ANN=A|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_153334.6|Coding|1/11|c.173+48C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|SCARF2|SCARF2|transcript|NM_182895.4|Coding|1/11|c.173+48C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20791966 . G A . . ANN=A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_153334.6|Coding|1/12|c.76C>T|p.Pro26Ser|181/3507|76/2611|26/869||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|SCARF2|SCARF2|transcript|NM_182895.4|Coding|1/12|c.76C>T|p.Pro26Ser|181/3492|76/2596|26/864||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 20796444 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|7/7|c.1821C>T|p.Asp607Asp|1978/2616|1821/1905|607/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|6/6|n.1812C>T|||||| 22 20796458 . G A . . ANN=A|missense_variant|MODERATE|KLHL22|KLHL22|transcript|NM_032775.3|Coding|7/7|c.1807C>T|p.Arg603Cys|1964/2616|1807/1905|603/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|6/6|n.1798C>T|||||| 22 20796567 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|7/7|c.1698C>T|p.Tyr566Tyr|1855/2616|1698/1905|566/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|6/6|n.1689C>T|||||| 22 20796597 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|7/7|c.1668C>T|p.Arg556Arg|1825/2616|1668/1905|556/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|6/6|n.1659C>T|||||| 22 20796615 . A T . . ANN=T|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|7/7|c.1650T>A|p.Gly550Gly|1807/2616|1650/1905|550/634||,T|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|6/6|n.1641T>A|||||| 22 20796662 . C T . . ANN=T|missense_variant|MODERATE|KLHL22|KLHL22|transcript|NM_032775.3|Coding|7/7|c.1603G>A|p.Gly535Ser|1760/2616|1603/1905|535/634||,T|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|6/6|n.1594G>A|||||| 22 20796729 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/6|c.1540-4G>A||||||,T|splice_region_variant&intron_variant|LOW|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/5|n.1531-4G>A|||||| 22 20796769 . G A . . ANN=A|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/6|c.1540-44C>T||||||,A|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/5|n.1531-44C>T|||||| 22 20800701 . G A . . ANN=A|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/6|c.1539+29C>T||||||,A|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/5|n.1530+29C>T|||||| 22 20800738 . C T . . ANN=T|missense_variant|MODERATE|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/7|c.1531G>A|p.Val511Met|1688/2616|1531/1905|511/634||,T|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/6|n.1522G>A|||||| 22 20800781 . A G . . ANN=G|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/7|c.1488T>C|p.Tyr496Tyr|1645/2616|1488/1905|496/634||,G|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/6|n.1479T>C|||||| 22 20800835 . A G . . ANN=G|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/7|c.1434T>C|p.Asp478Asp|1591/2616|1434/1905|478/634||,G|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/6|n.1425T>C|||||| 22 20800848 . T C . . ANN=C|missense_variant|MODERATE|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/7|c.1421A>G|p.His474Arg|1578/2616|1421/1905|474/634||,C|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/6|n.1412A>G|||||| 22 20800913 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/7|c.1356C>T|p.Cys452Cys|1513/2616|1356/1905|452/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/6|n.1347C>T|||||| 22 20800941 . G A . . ANN=A|missense_variant|MODERATE|KLHL22|KLHL22|transcript|NM_032775.3|Coding|6/7|c.1328C>T|p.Thr443Met|1485/2616|1328/1905|443/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|5/6|n.1319C>T|||||| 22 20800983 . G A . . ANN=A|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NM_032775.3|Coding|5/6|c.1306-20C>T||||||,A|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|4/5|n.1297-20C>T|||||| 22 20812116 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|5/7|c.1284C>T|p.Tyr428Tyr|1441/2616|1284/1905|428/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|4/6|n.1275C>T|||||| 22 20819327 . C T . . ANN=T|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|4/7|c.930G>A|p.Pro310Pro|1087/2616|930/1905|310/634||,T|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|3/6|n.921G>A|||||| 22 20819372 . C T . . ANN=T|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|4/7|c.885G>A|p.Ser295Ser|1042/2616|885/1905|295/634||,T|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|3/6|n.876G>A|||||| 22 20819567 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|4/7|c.690C>T|p.Asp230Asp|847/2616|690/1905|230/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|3/6|n.681C>T|||||| 22 20819577 . A G . . ANN=G|missense_variant|MODERATE|KLHL22|KLHL22|transcript|NM_032775.3|Coding|4/7|c.680T>C|p.Val227Ala|837/2616|680/1905|227/634||,G|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|3/6|n.671T>C|||||| 22 20825697 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|3/7|c.333C>T|p.Ser111Ser|490/2616|333/1905|111/634||,A|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|2/5|n.385-5834C>T|||||| 22 20843232 . C T . . ANN=T|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NM_032775.3|Coding|2/6|c.227+40G>A||||||,T|intron_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|2/5|n.384+40G>A|||||| 22 20843315 . C G . . ANN=G|missense_variant|MODERATE|KLHL22|KLHL22|transcript|NM_032775.3|Coding|2/7|c.184G>C|p.Glu62Gln|341/2616|184/1905|62/634||,G|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|2/6|n.341G>C|||||| 22 20843378 . G A . . ANN=A|synonymous_variant|LOW|KLHL22|KLHL22|transcript|NM_032775.3|Coding|2/7|c.121C>T|p.Leu41Leu|278/2616|121/1905|41/634||,A|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|2/6|n.278C>T|||||| 22 20843508 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|KLHL22|KLHL22|transcript|NM_032775.3|Coding|2/7|c.-10G>A|||||10|,T|non_coding_exon_variant|MODIFIER|KLHL22|KLHL22|transcript|NR_033825.1|Noncoding|2/6|n.148G>A|||||| 22 20861934 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|1/18|c.-32G>A|||||32|,A|5_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|1/17|c.-32G>A|||||32|,A|5_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|1/17|c.-99G>A|||||29480|,A|5_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|1/16|c.-32G>A|||||32|,A|5_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|1/17|c.-32G>A|||||32| 22 20862056 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|1/17|c.68+23G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|1/16|c.68+23G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|1/16|c.-11+34G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|1/15|c.68+23G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|1/16|c.68+23G>A|||||| 22 20891365 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|1/17|c.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|1/16|c.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|1/16|c.-10-39C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|1/15|c.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|1/16|c.69-39C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|1/16|c.-10-39C>T|||||| 22 20891366 . T C . . ANN=C|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|1/17|c.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|1/16|c.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|1/16|c.-10-38T>C||||||,C|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|1/15|c.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|1/16|c.69-38T>C||||||,C|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|1/16|c.-10-38T>C|||||| 22 20891380 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|1/17|c.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|1/16|c.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|1/16|c.-10-24G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|1/15|c.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|1/16|c.69-24G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|1/16|c.-10-24G>A|||||| 22 20891498 . C CCCTA . . ANN=CCCTA|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|2/17|c.156+7_156+8insCCTA||||||,CCCTA|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|2/16|c.156+7_156+8insCCTA||||||,CCCTA|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|2/16|c.78+7_78+8insCCTA||||||,CCCTA|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|2/15|c.156+7_156+8insCCTA||||||,CCCTA|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|2/16|c.156+7_156+8insCCTA||||||,CCCTA|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|2/16|c.78+7_78+8insCCTA|||||| 22 20891501 . T TACCG . . ANN=TACCG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|2/17|c.156+10_156+11insACCG||||||,TACCG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|2/16|c.156+10_156+11insACCG||||||,TACCG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|2/16|c.78+10_78+11insACCG||||||,TACCG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|2/15|c.156+10_156+11insACCG||||||,TACCG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|2/16|c.156+10_156+11insACCG||||||,TACCG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|2/16|c.78+10_78+11insACCG|||||| 22 20891502 . A ACCTG . . ANN=ACCTG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|2/17|c.156+11_156+12insCCTG||||||,ACCTG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|2/16|c.156+11_156+12insCCTG||||||,ACCTG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|2/16|c.78+11_78+12insCCTG||||||,ACCTG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|2/15|c.156+11_156+12insCCTG||||||,ACCTG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|2/16|c.156+11_156+12insCCTG||||||,ACCTG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|2/16|c.78+11_78+12insCCTG|||||| 22 20891539 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|2/17|c.156+48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|2/16|c.156+48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|2/16|c.78+48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|2/15|c.156+48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|2/16|c.156+48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|2/16|c.78+48G>A|||||| 22 20909206 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|4/17|c.239-17C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|4/16|c.239-17C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|4/16|c.161-17C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+1745C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|4/16|c.239-17C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|4/16|c.161-17C>T|||||| 22 20909255 . G A . . ANN=A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|5/18|c.271G>A|p.Gly91Arg|408/3432|271/2367|91/788||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|5/17|c.271G>A|p.Gly91Arg|408/3261|271/2196|91/731||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|5/17|c.193G>A|p.Gly65Arg|397/3301|193/2169|65/722||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|5/17|c.271G>A|p.Gly91Arg|408/3312|271/2247|91/748||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|5/17|c.193G>A|p.Gly65Arg|600/3504|193/2169|65/722||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+1794G>A|||||| 22 20909272 . C T . . ANN=T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|5/18|c.288C>T|p.Ala96Ala|425/3432|288/2367|96/788||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|5/17|c.288C>T|p.Ala96Ala|425/3261|288/2196|96/731||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|5/17|c.210C>T|p.Ala70Ala|414/3301|210/2169|70/722||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|5/17|c.288C>T|p.Ala96Ala|425/3312|288/2247|96/748||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|5/17|c.210C>T|p.Ala70Ala|617/3504|210/2169|70/722||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+1811C>T|||||| 22 20909294 . C T . . ANN=T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|5/18|c.310C>T|p.Arg104Trp|447/3432|310/2367|104/788||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|5/17|c.310C>T|p.Arg104Trp|447/3261|310/2196|104/731||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|5/17|c.232C>T|p.Arg78Trp|436/3301|232/2169|78/722||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|5/17|c.310C>T|p.Arg104Trp|447/3312|310/2247|104/748||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|5/17|c.232C>T|p.Arg78Trp|639/3504|232/2169|78/722||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+1833C>T|||||| 22 20909330 . C G . . ANN=G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|5/18|c.346C>G|p.Leu116Val|483/3432|346/2367|116/788||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|5/17|c.346C>G|p.Leu116Val|483/3261|346/2196|116/731||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|5/17|c.268C>G|p.Leu90Val|472/3301|268/2169|90/722||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|5/17|c.346C>G|p.Leu116Val|483/3312|346/2247|116/748||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|5/17|c.268C>G|p.Leu90Val|675/3504|268/2169|90/722||,G|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+1869C>G|||||| 22 20909371 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|5/18|c.387G>A|p.Pro129Pro|524/3432|387/2367|129/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|5/17|c.387G>A|p.Pro129Pro|524/3261|387/2196|129/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|5/17|c.309G>A|p.Pro103Pro|513/3301|309/2169|103/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|5/17|c.387G>A|p.Pro129Pro|524/3312|387/2247|129/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|5/17|c.309G>A|p.Pro103Pro|716/3504|309/2169|103/722||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+1910G>A|||||| 22 20909389 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|5/18|c.405G>A|p.Gly135Gly|542/3432|405/2367|135/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|5/17|c.405G>A|p.Gly135Gly|542/3261|405/2196|135/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|5/17|c.327G>A|p.Gly109Gly|531/3301|327/2169|109/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|5/17|c.405G>A|p.Gly135Gly|542/3312|405/2247|135/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|5/17|c.327G>A|p.Gly109Gly|734/3504|327/2169|109/722||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+1928G>A|||||| 22 20909448 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|5/17|c.451+13C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|5/16|c.451+13C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|5/16|c.373+13C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+1987C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|5/16|c.451+13C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|5/16|c.373+13C>T|||||| 22 20909465 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|5/17|c.451+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|5/16|c.451+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|5/16|c.373+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.238+2004C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|5/16|c.451+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|5/16|c.373+30C>T|||||| 22 20918716 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|5/17|c.452-21G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|5/16|c.452-21G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|5/16|c.374-21G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|4/15|c.239-21G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|5/16|c.452-21G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|5/16|c.374-21G>A|||||| 22 20918779 . A G . . ANN=G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|6/18|c.494A>G|p.Gln165Arg|631/3432|494/2367|165/788||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|6/17|c.494A>G|p.Gln165Arg|631/3261|494/2196|165/731||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|6/17|c.416A>G|p.Gln139Arg|620/3301|416/2169|139/722||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|5/16|c.281A>G|p.Gln94Arg|418/3099|281/2034|94/677||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|6/17|c.494A>G|p.Gln165Arg|631/3312|494/2247|165/748||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|6/17|c.416A>G|p.Gln139Arg|823/3504|416/2169|139/722|| 22 20918794 . A T . . ANN=T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|6/18|c.509A>T|p.Gln170Leu|646/3432|509/2367|170/788||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|6/17|c.509A>T|p.Gln170Leu|646/3261|509/2196|170/731||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|6/17|c.431A>T|p.Gln144Leu|635/3301|431/2169|144/722||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|5/16|c.296A>T|p.Gln99Leu|433/3099|296/2034|99/677||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|6/17|c.509A>T|p.Gln170Leu|646/3312|509/2247|170/748||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|6/17|c.431A>T|p.Gln144Leu|838/3504|431/2169|144/722|| 22 20918987 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|6/17|c.690+12C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|6/16|c.690+12C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|6/16|c.612+12C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|5/15|c.477+12C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|6/16|c.690+12C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|6/16|c.612+12C>T|||||| 22 20920813 . ACAG A,ACAGCAG,ACAGCAGCAG . . ANN=CAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|7/18|c.784_786dupCAG|p.Gln262dup|924/3432|787/2367|263/788||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|7/18|c.781_786dupCAGCAG|p.Gln261_Gln262dup|924/3432|787/2367|263/788||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|7/17|c.784_786dupCAG|p.Gln262dup|924/3261|787/2196|263/731||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|7/17|c.781_786dupCAGCAG|p.Gln261_Gln262dup|924/3261|787/2196|263/731||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|7/17|c.706_708dupCAG|p.Gln236dup|913/3301|709/2169|237/722||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|7/17|c.703_708dupCAGCAG|p.Gln235_Gln236dup|913/3301|709/2169|237/722||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|6/16|c.571_573dupCAG|p.Gln191dup|711/3099|574/2034|192/677||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|6/16|c.568_573dupCAGCAG|p.Gln190_Gln191dup|711/3099|574/2034|192/677||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|7/17|c.784_786dupCAG|p.Gln262dup|924/3312|787/2247|263/748||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|7/17|c.781_786dupCAGCAG|p.Gln261_Gln262dup|924/3312|787/2247|263/748||INFO_REALIGN_3_PRIME,CAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|7/17|c.706_708dupCAG|p.Gln236dup|1116/3504|709/2169|237/722||INFO_REALIGN_3_PRIME,CAGCAG|inframe_insertion|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|7/17|c.703_708dupCAGCAG|p.Gln235_Gln236dup|1116/3504|709/2169|237/722||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|7/18|c.784_786delCAG|p.Gln262del|921/3432|784/2367|262/788||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|7/17|c.784_786delCAG|p.Gln262del|921/3261|784/2196|262/731||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|7/17|c.706_708delCAG|p.Gln236del|910/3301|706/2169|236/722||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|6/16|c.571_573delCAG|p.Gln191del|708/3099|571/2034|191/677||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|7/17|c.784_786delCAG|p.Gln262del|921/3312|784/2247|262/748||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|7/17|c.706_708delCAG|p.Gln236del|1113/3504|706/2169|236/722||INFO_REALIGN_3_PRIME 22 20920906 . G T . . ANN=T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|7/18|c.843G>T|p.Pro281Pro|980/3432|843/2367|281/788||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|7/17|c.843G>T|p.Pro281Pro|980/3261|843/2196|281/731||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|7/17|c.765G>T|p.Pro255Pro|969/3301|765/2169|255/722||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|6/16|c.630G>T|p.Pro210Pro|767/3099|630/2034|210/677||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|7/17|c.843G>T|p.Pro281Pro|980/3312|843/2247|281/748||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|7/17|c.765G>T|p.Pro255Pro|1172/3504|765/2169|255/722|| 22 20921025 . A G . . ANN=G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|7/18|c.962A>G|p.Gln321Arg|1099/3432|962/2367|321/788||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|7/17|c.962A>G|p.Gln321Arg|1099/3261|962/2196|321/731||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|7/17|c.884A>G|p.Gln295Arg|1088/3301|884/2169|295/722||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|6/16|c.749A>G|p.Gln250Arg|886/3099|749/2034|250/677||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|7/17|c.962A>G|p.Gln321Arg|1099/3312|962/2247|321/748||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|7/17|c.884A>G|p.Gln295Arg|1291/3504|884/2169|295/722|| 22 20922898 . A C . . ANN=C|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|8/18|c.1132A>C|p.Met378Leu|1269/3432|1132/2367|378/788||,C|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|8/17|c.1132A>C|p.Met378Leu|1269/3261|1132/2196|378/731||,C|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|8/17|c.1054A>C|p.Met352Leu|1258/3301|1054/2169|352/722||,C|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|7/16|c.919A>C|p.Met307Leu|1056/3099|919/2034|307/677||,C|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|8/17|c.1132A>C|p.Met378Leu|1269/3312|1132/2247|378/748||,C|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|8/17|c.1054A>C|p.Met352Leu|1461/3504|1054/2169|352/722|| 22 20922926 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|8/17|c.1152+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|8/16|c.1152+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|8/16|c.1074+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|7/15|c.939+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|8/16|c.1152+8C>T||||||,T|splice_region_variant&intron_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|8/16|c.1074+8C>T|||||| 22 20929453 . G T . . ANN=T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|9/18|c.1206G>T|p.Pro402Pro|1343/3432|1206/2367|402/788||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|8/16|c.1152+6535G>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|8/16|c.1074+6535G>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|7/15|c.939+6535G>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|8/16|c.1152+6535G>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|8/16|c.1074+6535G>T|||||| 22 20929528 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|9/17|c.1272+9G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|8/16|c.1152+6610G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|8/16|c.1074+6610G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|7/15|c.939+6610G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|8/16|c.1152+6610G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|8/16|c.1074+6610G>A|||||| 22 20936852 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|9/17|c.1273-46C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|8/16|c.1153-97C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|8/16|c.1075-46C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|7/15|c.940-46C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|8/16|c.1153-46C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|8/16|c.1075-46C>T|||||| 22 20936873 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|9/17|c.1273-25G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|8/16|c.1153-76G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|8/16|c.1075-25G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|7/15|c.940-25G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|8/16|c.1153-25G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|8/16|c.1075-25G>A|||||| 22 20936980 . C G . . ANN=G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|10/18|c.1355C>G|p.Pro452Arg|1492/3432|1355/2367|452/788||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|9/17|c.1184C>G|p.Pro395Arg|1321/3261|1184/2196|395/731||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|9/17|c.1157C>G|p.Pro386Arg|1361/3301|1157/2169|386/722||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|8/16|c.1022C>G|p.Pro341Arg|1159/3099|1022/2034|341/677||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|9/17|c.1235C>G|p.Pro412Arg|1372/3312|1235/2247|412/748||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|9/17|c.1157C>G|p.Pro386Arg|1564/3504|1157/2169|386/722|| 22 20936993 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|10/18|c.1368G>A|p.Pro456Pro|1505/3432|1368/2367|456/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|9/17|c.1197G>A|p.Pro399Pro|1334/3261|1197/2196|399/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|9/17|c.1170G>A|p.Pro390Pro|1374/3301|1170/2169|390/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|8/16|c.1035G>A|p.Pro345Pro|1172/3099|1035/2034|345/677||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|9/17|c.1248G>A|p.Pro416Pro|1385/3312|1248/2247|416/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|9/17|c.1170G>A|p.Pro390Pro|1577/3504|1170/2169|390/722|| 22 20937074 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|10/17|c.1409+40G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|9/16|c.1238+40G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|9/16|c.1211+40G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|8/15|c.1076+40G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|9/16|c.1289+40G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|9/16|c.1211+40G>A|||||| 22 20937175 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|11/18|c.1458G>A|p.Pro486Pro|1595/3432|1458/2367|486/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|10/17|c.1287G>A|p.Pro429Pro|1424/3261|1287/2196|429/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|10/17|c.1260G>A|p.Pro420Pro|1464/3301|1260/2169|420/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|9/16|c.1125G>A|p.Pro375Pro|1262/3099|1125/2034|375/677||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|10/17|c.1338G>A|p.Pro446Pro|1475/3312|1338/2247|446/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|10/17|c.1260G>A|p.Pro420Pro|1667/3504|1260/2169|420/722|| 22 20937201 . C T . . ANN=T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|11/18|c.1484C>T|p.Ala495Val|1621/3432|1484/2367|495/788||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|10/17|c.1313C>T|p.Ala438Val|1450/3261|1313/2196|438/731||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|10/17|c.1286C>T|p.Ala429Val|1490/3301|1286/2169|429/722||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|9/16|c.1151C>T|p.Ala384Val|1288/3099|1151/2034|384/677||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|10/17|c.1364C>T|p.Ala455Val|1501/3312|1364/2247|455/748||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|10/17|c.1286C>T|p.Ala429Val|1693/3504|1286/2169|429/722|| 22 20937202 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|11/18|c.1485G>A|p.Ala495Ala|1622/3432|1485/2367|495/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|10/17|c.1314G>A|p.Ala438Ala|1451/3261|1314/2196|438/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|10/17|c.1287G>A|p.Ala429Ala|1491/3301|1287/2169|429/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|9/16|c.1152G>A|p.Ala384Ala|1289/3099|1152/2034|384/677||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|10/17|c.1365G>A|p.Ala455Ala|1502/3312|1365/2247|455/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|10/17|c.1287G>A|p.Ala429Ala|1694/3504|1287/2169|429/722|| 22 20937204 . G A . . ANN=A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|11/18|c.1487G>A|p.Arg496Gln|1624/3432|1487/2367|496/788||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|10/17|c.1316G>A|p.Arg439Gln|1453/3261|1316/2196|439/731||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|10/17|c.1289G>A|p.Arg430Gln|1493/3301|1289/2169|430/722||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|9/16|c.1154G>A|p.Arg385Gln|1291/3099|1154/2034|385/677||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|10/17|c.1367G>A|p.Arg456Gln|1504/3312|1367/2247|456/748||,A|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|10/17|c.1289G>A|p.Arg430Gln|1696/3504|1289/2169|430/722|| 22 20937350 . T TC . . ANN=TC|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|11/17|c.1538-50_1538-49insC||||||,TC|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|10/16|c.1367-50_1367-49insC||||||,TC|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|10/16|c.1340-50_1340-49insC||||||,TC|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|9/15|c.1205-50_1205-49insC||||||,TC|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|10/16|c.1418-50_1418-49insC||||||,TC|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|10/16|c.1340-50_1340-49insC|||||| 22 20937358 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|11/17|c.1538-42C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|10/16|c.1367-42C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|10/16|c.1340-42C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|9/15|c.1205-42C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|10/16|c.1418-42C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|10/16|c.1340-42C>T|||||| 22 20937386 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|11/17|c.1538-14C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|10/16|c.1367-14C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|10/16|c.1340-14C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|9/15|c.1205-14C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|10/16|c.1418-14C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|10/16|c.1340-14C>T|||||| 22 20937513 . A G . . ANN=G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|12/18|c.1651A>G|p.Asn551Asp|1788/3432|1651/2367|551/788||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|11/17|c.1480A>G|p.Asn494Asp|1617/3261|1480/2196|494/731||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|11/17|c.1453A>G|p.Asn485Asp|1657/3301|1453/2169|485/722||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|10/16|c.1318A>G|p.Asn440Asp|1455/3099|1318/2034|440/677||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|11/17|c.1531A>G|p.Asn511Asp|1668/3312|1531/2247|511/748||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|11/17|c.1453A>G|p.Asn485Asp|1860/3504|1453/2169|485/722|| 22 20937564 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|12/17|c.1672+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|11/16|c.1501+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|11/16|c.1474+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|10/15|c.1339+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|11/16|c.1552+30C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|11/16|c.1474+30C>T|||||| 22 20937601 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|12/17|c.1673-16C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|11/16|c.1502-16C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|11/16|c.1475-16C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|10/15|c.1340-16C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|11/16|c.1553-16C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|11/16|c.1475-16C>T|||||| 22 20937606 . T TG . . ANN=TG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|12/17|c.1673-11_1673-10insG||||||,TG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|11/16|c.1502-11_1502-10insG||||||,TG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|11/16|c.1475-11_1475-10insG||||||,TG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|10/15|c.1340-11_1340-10insG||||||,TG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|11/16|c.1553-11_1553-10insG||||||,TG|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|11/16|c.1475-11_1475-10insG|||||| 22 20937648 . C T . . ANN=T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|13/18|c.1704C>T|p.Ser568Ser|1841/3432|1704/2367|568/788||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|12/17|c.1533C>T|p.Ser511Ser|1670/3261|1533/2196|511/731||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|12/17|c.1506C>T|p.Ser502Ser|1710/3301|1506/2169|502/722||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|11/16|c.1371C>T|p.Ser457Ser|1508/3099|1371/2034|457/677||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|12/17|c.1584C>T|p.Ser528Ser|1721/3312|1584/2247|528/748||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|12/17|c.1506C>T|p.Ser502Ser|1913/3504|1506/2169|502/722|| 22 20939110 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|14/17|c.1804-32C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|13/16|c.1633-32C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|13/16|c.1606-32C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|12/15|c.1471-32C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|13/16|c.1684-32C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|13/16|c.1606-32C>T|||||| 22 20939123 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|14/17|c.1804-19G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|13/16|c.1633-19G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|13/16|c.1606-19G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|12/15|c.1471-19G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|13/16|c.1684-19G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|13/16|c.1606-19G>A|||||| 22 20939161 . C T . . ANN=T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|15/18|c.1823C>T|p.Pro608Leu|1960/3432|1823/2367|608/788||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|14/17|c.1652C>T|p.Pro551Leu|1789/3261|1652/2196|551/731||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|14/17|c.1625C>T|p.Pro542Leu|1829/3301|1625/2169|542/722||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|13/16|c.1490C>T|p.Pro497Leu|1627/3099|1490/2034|497/677||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|14/17|c.1703C>T|p.Pro568Leu|1840/3312|1703/2247|568/748||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|14/17|c.1625C>T|p.Pro542Leu|2032/3504|1625/2169|542/722|| 22 20939296 . C T . . ANN=T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|15/18|c.1958C>T|p.Pro653Leu|2095/3432|1958/2367|653/788||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|14/17|c.1787C>T|p.Pro596Leu|1924/3261|1787/2196|596/731||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|14/17|c.1760C>T|p.Pro587Leu|1964/3301|1760/2169|587/722||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|13/16|c.1625C>T|p.Pro542Leu|1762/3099|1625/2034|542/677||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|14/17|c.1838C>T|p.Pro613Leu|1975/3312|1838/2247|613/748||,T|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|14/17|c.1760C>T|p.Pro587Leu|2167/3504|1760/2169|587/722|| 22 20939298 . A G . . ANN=G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|15/18|c.1960A>G|p.Ile654Val|2097/3432|1960/2367|654/788||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|14/17|c.1789A>G|p.Ile597Val|1926/3261|1789/2196|597/731||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|14/17|c.1762A>G|p.Ile588Val|1966/3301|1762/2169|588/722||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|13/16|c.1627A>G|p.Ile543Val|1764/3099|1627/2034|543/677||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|14/17|c.1840A>G|p.Ile614Val|1977/3312|1840/2247|614/748||,G|missense_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|14/17|c.1762A>G|p.Ile588Val|2169/3504|1762/2169|588/722|| 22 20939400 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|16/18|c.1977G>A|p.Val659Val|2114/3432|1977/2367|659/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|15/17|c.1806G>A|p.Val602Val|1943/3261|1806/2196|602/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|15/17|c.1779G>A|p.Val593Val|1983/3301|1779/2169|593/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|14/16|c.1644G>A|p.Val548Val|1781/3099|1644/2034|548/677||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|15/17|c.1857G>A|p.Val619Val|1994/3312|1857/2247|619/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|15/17|c.1779G>A|p.Val593Val|2186/3504|1779/2169|593/722|| 22 20940002 . T G . . ANN=G|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|16/17|c.2132-13T>G||||||,G|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|15/16|c.1961-13T>G||||||,G|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|15/16|c.1934-13T>G||||||,G|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|14/15|c.1799-13T>G||||||,G|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|15/16|c.2012-13T>G||||||,G|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|15/16|c.1934-13T>G|||||| 22 20940046 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|17/18|c.2163G>A|p.Leu721Leu|2300/3432|2163/2367|721/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|16/17|c.1992G>A|p.Leu664Leu|2129/3261|1992/2196|664/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|16/17|c.1965G>A|p.Leu655Leu|2169/3301|1965/2169|655/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|15/16|c.1830G>A|p.Leu610Leu|1967/3099|1830/2034|610/677||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|16/17|c.2043G>A|p.Leu681Leu|2180/3312|2043/2247|681/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|16/17|c.1965G>A|p.Leu655Leu|2372/3504|1965/2169|655/722|| 22 20940085 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|17/18|c.2202G>A|p.Pro734Pro|2339/3432|2202/2367|734/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|16/17|c.2031G>A|p.Pro677Pro|2168/3261|2031/2196|677/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|16/17|c.2004G>A|p.Pro668Pro|2208/3301|2004/2169|668/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|15/16|c.1869G>A|p.Pro623Pro|2006/3099|1869/2034|623/677||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|16/17|c.2082G>A|p.Pro694Pro|2219/3312|2082/2247|694/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|16/17|c.2004G>A|p.Pro668Pro|2411/3504|2004/2169|668/722|| 22 20940807 . G A . . ANN=A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|17/17|c.2231-48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|16/16|c.2060-48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|16/16|c.2033-48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|15/15|c.1898-48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|16/16|c.2111-48G>A||||||,A|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|16/16|c.2033-48G>A|||||| 22 20940822 . C T . . ANN=T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|17/17|c.2231-33C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|16/16|c.2060-33C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|16/16|c.2033-33C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|15/15|c.1898-33C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|16/16|c.2111-33C>T||||||,T|intron_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|16/16|c.2033-33C>T|||||| 22 20940856 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|18/18|c.2232C>T|p.Asp744Asp|2369/3432|2232/2367|744/788||,T|splice_region_variant&synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|17/17|c.2061C>T|p.Asp687Asp|2198/3261|2061/2196|687/731||,T|splice_region_variant&synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|17/17|c.2034C>T|p.Asp678Asp|2238/3301|2034/2169|678/722||,T|splice_region_variant&synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|16/16|c.1899C>T|p.Asp633Asp|2036/3099|1899/2034|633/677||,T|splice_region_variant&synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|17/17|c.2112C>T|p.Asp704Asp|2249/3312|2112/2247|704/748||,T|splice_region_variant&synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|17/17|c.2034C>T|p.Asp678Asp|2441/3504|2034/2169|678/722|| 22 20940857 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|MED15|MED15|transcript|NM_001003891.2|Coding|18/18|c.2233G>A|p.Ala745Thr|2370/3432|2233/2367|745/788||,A|missense_variant&splice_region_variant|MODERATE|MED15|MED15|transcript|NM_001293234.1|Coding|17/17|c.2062G>A|p.Ala688Thr|2199/3261|2062/2196|688/731||,A|missense_variant&splice_region_variant|MODERATE|MED15|MED15|transcript|NM_001293235.1|Coding|17/17|c.2035G>A|p.Ala679Thr|2239/3301|2035/2169|679/722||,A|missense_variant&splice_region_variant|MODERATE|MED15|MED15|transcript|NM_001293236.1|Coding|16/16|c.1900G>A|p.Ala634Thr|2037/3099|1900/2034|634/677||,A|missense_variant&splice_region_variant|MODERATE|MED15|MED15|transcript|NM_015889.4|Coding|17/17|c.2113G>A|p.Ala705Thr|2250/3312|2113/2247|705/748||,A|missense_variant&splice_region_variant|MODERATE|MED15|MED15|transcript|NM_001293237.1|Coding|17/17|c.2035G>A|p.Ala679Thr|2442/3504|2035/2169|679/722|| 22 20940877 . G A . . ANN=A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|18/18|c.2253G>A|p.Ser751Ser|2390/3432|2253/2367|751/788||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|17/17|c.2082G>A|p.Ser694Ser|2219/3261|2082/2196|694/731||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|17/17|c.2055G>A|p.Ser685Ser|2259/3301|2055/2169|685/722||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|16/16|c.1920G>A|p.Ser640Ser|2057/3099|1920/2034|640/677||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|17/17|c.2133G>A|p.Ser711Ser|2270/3312|2133/2247|711/748||,A|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|17/17|c.2055G>A|p.Ser685Ser|2462/3504|2055/2169|685/722|| 22 20940934 . C T . . ANN=T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001003891.2|Coding|18/18|c.2310C>T|p.Thr770Thr|2447/3432|2310/2367|770/788||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293234.1|Coding|17/17|c.2139C>T|p.Thr713Thr|2276/3261|2139/2196|713/731||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293235.1|Coding|17/17|c.2112C>T|p.Thr704Thr|2316/3301|2112/2169|704/722||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293236.1|Coding|16/16|c.1977C>T|p.Thr659Thr|2114/3099|1977/2034|659/677||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_015889.4|Coding|17/17|c.2190C>T|p.Thr730Thr|2327/3312|2190/2247|730/748||,T|synonymous_variant|LOW|MED15|MED15|transcript|NM_001293237.1|Coding|17/17|c.2112C>T|p.Thr704Thr|2519/3504|2112/2169|704/722|| 22 20941012 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|18/18|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|17/17|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|17/17|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|16/16|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|17/17|c.*21C>T|||||21|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|17/17|c.*21C>T|||||21| 22 20941038 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|18/18|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|17/17|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|17/17|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|16/16|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|17/17|c.*47A>C|||||47|,C|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|17/17|c.*47A>C|||||47| 22 20941039 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001003891.2|Coding|18/18|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293234.1|Coding|17/17|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293235.1|Coding|17/17|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293236.1|Coding|16/16|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_015889.4|Coding|17/17|c.*48C>T|||||48|,T|3_prime_UTR_variant|MODIFIER|MED15|MED15|transcript|NM_001293237.1|Coding|17/17|c.*48C>T|||||48| 22 21062316 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|55/55|c.*19C>T|||||19|,A|3_prime_UTR_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|23/23|c.*19C>T|||||19| 22 21067690 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|47/54|c.5462-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|15/22|c.1718-12C>T|||||| 22 21072992 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|44/55|c.5235G>A|p.Ser1745Ser|5322/6752|5235/6309|1745/2102||,T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_002650.2|Coding|12/23|c.1491G>A|p.Ser497Ser|1608/3038|1491/2565|497/854|| 22 21073090 . C G . . ANN=G|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|44/55|c.5137G>C|p.Asp1713His|5224/6752|5137/6309|1713/2102||,G|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_002650.2|Coding|12/23|c.1393G>C|p.Asp465His|1510/3038|1393/2565|465/854|| 22 21073122 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|43/54|c.5117-12C>T||||||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|11/22|c.1373-12C>T|||||| 22 21075537 . A C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|43/54|c.5116+49T>G||||||,C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|11/22|c.1372+49T>G|||||| 22 21075586 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|43/55|c.5116C>G|p.Pro1706Ala|5203/6752|5116/6309|1706/2102||,C|missense_variant&splice_region_variant|MODERATE|PI4KA|PI4KA|transcript|NM_002650.2|Coding|11/23|c.1372C>G|p.Pro458Ala|1489/3038|1372/2565|458/854|| 22 21080753 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|42/54|c.4995+23G>A||||||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|10/22|c.1251+23G>A|||||| 22 21080864 . G C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|41/54|c.4942-35C>G||||||,C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|9/22|c.1198-35C>G|||||| 22 21080877 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|41/54|c.4942-48G>A||||||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|9/22|c.1198-48G>A|||||| 22 21081480 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|41/54|c.4941+38A>G||||||,C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|9/22|c.1197+38A>G|||||| 22 21081634 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|41/55|c.4825G>A|p.Val1609Met|4912/6752|4825/6309|1609/2102||,T|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_002650.2|Coding|9/23|c.1081G>A|p.Val361Met|1198/3038|1081/2565|361/854|| 22 21082013 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|40/54|c.4773+49C>T||||||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|8/22|c.1029+49C>T|||||| 22 21082033 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|40/54|c.4773+29G>A||||||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|8/22|c.1029+29G>A|||||| 22 21082168 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|39/54|c.4683-16C>T||||||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|7/22|c.939-16C>T|||||| 22 21083591 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|39/54|c.4682+10C>T||||||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|7/22|c.938+10C>T|||||| 22 21083611 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|39/55|c.4672C>T|p.Leu1558Leu|4759/6752|4672/6309|1558/2102||,A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_002650.2|Coding|7/23|c.928C>T|p.Leu310Leu|1045/3038|928/2565|310/854|| 22 21083886 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|38/54|c.4488+34C>T||||||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|6/22|c.744+34C>T|||||| 22 21083938 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|38/55|c.4470G>A|p.Thr1490Thr|4557/6752|4470/6309|1490/2102||,T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_002650.2|Coding|6/23|c.726G>A|p.Thr242Thr|843/3038|726/2565|242/854|| 22 21083959 . T C . . ANN=C|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|38/55|c.4449A>G|p.Lys1483Lys|4536/6752|4449/6309|1483/2102||,C|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_002650.2|Coding|6/23|c.705A>G|p.Lys235Lys|822/3038|705/2565|235/854|| 22 21084155 . C G . . ANN=G|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|37/54|c.4408+25G>C||||||,G|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|5/22|c.664+25G>C|||||| 22 21084208 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|37/55|c.4380C>T|p.Ser1460Ser|4467/6752|4380/6309|1460/2102||,A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_002650.2|Coding|5/23|c.636C>T|p.Ser212Ser|753/3038|636/2565|212/854|| 22 21084220 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|37/55|c.4368C>T|p.Tyr1456Tyr|4455/6752|4368/6309|1456/2102||,A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_002650.2|Coding|5/23|c.624C>T|p.Tyr208Tyr|741/3038|624/2565|208/854|| 22 21088881 . CA C . . ANN=C|5_prime_UTR_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_002650.2|Coding|1/23|c.-44delT|||||44|,C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|32/54|c.3742-41delT|||||| 22 21096605 . G A . . ANN=A|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|32/55|c.3652C>T|p.Pro1218Ser|3739/6752|3652/6309|1218/2102|| 22 21096619 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|32/55|c.3638A>G|p.His1213Arg|3725/6752|3638/6309|1213/2102|| 22 21096679 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|31/54|c.3614-36G>A|||||| 22 21096865 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|31/54|c.3613+31G>A|||||| 22 21096885 . CAGTG C . . ANN=C|splice_region_variant&intron_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|31/54|c.3613+7_3613+10delCACT|||||| 22 21096904 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|31/55|c.3605G>A|p.Ser1202Asn|3692/6752|3605/6309|1202/2102|| 22 21097036 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|31/55|c.3473G>A|p.Arg1158Gln|3560/6752|3473/6309|1158/2102|| 22 21097037 . G A . . ANN=A|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|31/55|c.3472C>T|p.Arg1158Trp|3559/6752|3472/6309|1158/2102|| 22 21098897 . GCAAGGA G . . ANN=G|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|30/54|c.3456+13_3456+18delTCCTTG|||||| 22 21098898 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|30/54|c.3456+18G>A|||||| 22 21101940 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|29/55|c.3294G>A|p.Thr1098Thr|3381/6752|3294/6309|1098/2102|| 22 21104150 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|28/54|c.3243+43A>G|||||| 22 21104315 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|27/54|c.3154-33G>A|||||| 22 21105608 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|27/55|c.3126G>A|p.Thr1042Thr|3213/6752|3126/6309|1042/2102|| 22 21105614 . C G . . ANN=G|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|27/55|c.3120G>C|p.Arg1040Arg|3207/6752|3120/6309|1040/2102|| 22 21105998 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|26/55|c.3033G>A|p.Leu1011Leu|3120/6752|3033/6309|1011/2102|| 22 21106055 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|25/54|c.2988-12C>T|||||| 22 21106077 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|25/54|c.2988-34G>A|||||| 22 21107153 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|25/54|c.2987+38A>G|||||| 22 21107179 . A G . . ANN=G|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|25/54|c.2987+12T>C|||||| 22 21107183 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|25/54|c.2987+8C>T|||||| 22 21107345 . G C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|24/54|c.2863-30C>G|||||| 22 21107374 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|24/54|c.2862+24G>A|||||| 22 21107413 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|24/55|c.2847C>T|p.Asn949Asn|2934/6752|2847/6309|949/2102|| 22 21107463 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|24/55|c.2797A>G|p.Met933Val|2884/6752|2797/6309|933/2102|| 22 21107486 . C A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|23/54|c.2792-18G>T|||||| 22 21115543 . C A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|23/54|c.2791+49G>T|||||| 22 21115576 . A G . . ANN=G|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|23/54|c.2791+16T>C|||||| 22 21115714 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|22/54|c.2709-40C>T|||||| 22 21119099 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|22/54|c.2708+6C>T|||||| 22 21119148 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|22/55|c.2665A>G|p.Met889Val|2752/6752|2665/6309|889/2102|| 22 21119278 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|21/54|c.2575-40G>A|||||| 22 21119433 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|21/55|c.2529C>T|p.Ser843Ser|2616/6752|2529/6309|843/2102|| 22 21119564 . C A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|20/54|c.2438-40G>T|||||| 22 21119838 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|20/54|c.2437+35G>A|||||| 22 21119867 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|20/54|c.2437+6G>A|||||| 22 21119995 . A T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2329-14T>A|||||| 22 21133609 . C T . . ANN=T|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.9C>T|p.His3His|76/2221|9/1500|3/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2329-13628G>A|||||| 22 21133618 . C T . . ANN=T|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.18C>T|p.Asn6Asn|85/2221|18/1500|6/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2329-13637G>A|||||| 22 21133619 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.19G>A|p.Ala7Thr|86/2221|19/1500|7/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2329-13638C>T|||||| 22 21133685 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.85G>A|p.Glu29Lys|152/2221|85/1500|29/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2329-13704C>T|||||| 22 21133692 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.92G>A|p.Gly31Glu|159/2221|92/1500|31/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2329-13711C>T|||||| 22 21133793 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.193G>A|p.Val65Ile|260/2221|193/1500|65/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13688C>T|||||| 22 21133831 . C A,T . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.231C>A|p.Asp77Glu|298/2221|231/1500|77/499||,T|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.231C>T|p.Asp77Asp|298/2221|231/1500|77/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13650G>T||||||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13650G>A|||||| 22 21133860 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.260G>A|p.Ser87Asn|327/2221|260/1500|87/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13621C>T|||||| 22 21133885 . C T . . ANN=T|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.285C>T|p.Ile95Ile|352/2221|285/1500|95/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13596G>A|||||| 22 21133886 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.286G>A|p.Val96Ile|353/2221|286/1500|96/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13595C>T|||||| 22 21134007 . A T . . ANN=T|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.407A>T|p.Asn136Ile|474/2221|407/1500|136/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13474T>A|||||| 22 21134023 . G A . . ANN=A|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.423G>A|p.Leu141Leu|490/2221|423/1500|141/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13458C>T|||||| 22 21134037 . A T . . ANN=T|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.437A>T|p.Asn146Ile|504/2221|437/1500|146/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13444T>A|||||| 22 21134067 . T C . . ANN=C|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.467T>C|p.Val156Ala|534/2221|467/1500|156/499||,C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13414A>G|||||| 22 21134083 . G A . . ANN=A|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.483G>A|p.Ala161Ala|550/2221|483/1500|161/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13398C>T|||||| 22 21134136 . C T . . ANN=T|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.536C>T|p.Ser179Leu|603/2221|536/1500|179/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13345G>A|||||| 22 21134223 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.623G>A|p.Arg208His|690/2221|623/1500|208/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13258C>T|||||| 22 21134284 . G A . . ANN=A|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.684G>A|p.Lys228Lys|751/2221|684/1500|228/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13197C>T|||||| 22 21134430 . C T . . ANN=T|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.830C>T|p.Ala277Val|897/2221|830/1500|277/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13051G>A|||||| 22 21134442 . T C . . ANN=C|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/5|c.842T>C|p.Ile281Thr|909/2221|842/1500|281/499||,C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+13039A>G|||||| 22 21134513 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+12968G>A||||||,T|intron_variant|MODIFIER|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|2/4|c.889+24C>T|||||| 22 21138483 . G T . . ANN=T|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|3/5|c.1113G>T|p.Ala371Ala|1180/2221|1113/1500|371/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+8998C>A|||||| 22 21138487 . C T . . ANN=T|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|3/5|c.1117C>T|p.Leu373Leu|1184/2221|1117/1500|373/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+8994G>A|||||| 22 21138544 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+8937G>A||||||,T|intron_variant|MODIFIER|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|3/4|c.1163+11C>T|||||| 22 21140287 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|3/4|c.1164-5T>C||||||,C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+7194A>G|||||| 22 21141116 . C A,T . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+6365G>T||||||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+6365G>A||||||,A|intron_variant|MODIFIER|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|4/4|c.1309-47C>A||||||,T|intron_variant|MODIFIER|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|4/4|c.1309-47C>T|||||| 22 21141179 . C T . . ANN=T|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|5/5|c.1325C>T|p.Thr442Met|1392/2221|1325/1500|442/499||,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+6302G>A|||||| 22 21141225 . G A . . ANN=A|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|5/5|c.1371G>A|p.Thr457Thr|1438/2221|1371/1500|457/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+6256C>T|||||| 22 21141265 . G A . . ANN=A|missense_variant|MODERATE|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|5/5|c.1411G>A|p.Val471Ile|1478/2221|1411/1500|471/499||,A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+6216C>T|||||| 22 21141300 . T C . . ANN=C|synonymous_variant|LOW|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|5/5|c.1446T>C|p.His482His|1513/2221|1446/1500|482/499||,C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+6181A>G|||||| 22 21141392 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SERPIND1|SERPIND1|transcript|NM_000185.3|Coding|5/5|c.*38C>T|||||38|,T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|19/54|c.2328+6089G>A|||||| 22 21147564 . G C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|18/54|c.2278-33C>G|||||| 22 21150389 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|18/54|c.2277+45C>T|||||| 22 21150408 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|18/54|c.2277+26C>T|||||| 22 21150479 . C G . . ANN=G|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|18/55|c.2232G>C|p.Gly744Gly|2319/6752|2232/6309|744/2102|| 22 21150521 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|18/55|c.2190C>T|p.Leu730Leu|2277/6752|2190/6309|730/2102|| 22 21150649 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|17/54|c.2109-47C>T|||||| 22 21152916 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|17/55|c.2064C>T|p.Ser688Ser|2151/6752|2064/6309|688/2102|| 22 21152979 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|16/54|c.2005-4C>T|||||| 22 21153335 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|16/54|c.2004+46C>T|||||| 22 21153433 . G C . . ANN=C|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|16/55|c.1952C>G|p.Pro651Arg|2039/6752|1952/6309|651/2102|| 22 21153492 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|16/55|c.1893G>A|p.Pro631Pro|1980/6752|1893/6309|631/2102|| 22 21153590 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|15/54|c.1821-26G>A|||||| 22 21153606 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|15/54|c.1821-42G>A|||||| 22 21153964 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|15/55|c.1815C>T|p.Ser605Ser|1902/6752|1815/6309|605/2102|| 22 21156239 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|14/54|c.1724+22G>A|||||| 22 21156277 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|14/55|c.1708A>G|p.Ile570Val|1795/6752|1708/6309|570/2102|| 22 21156281 . G T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|14/55|c.1704C>A|p.Ile568Ile|1791/6752|1704/6309|568/2102|| 22 21156293 . C A . . ANN=A|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|14/55|c.1692G>T|p.Gln564His|1779/6752|1692/6309|564/2102|| 22 21156388 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|14/55|c.1597G>A|p.Gly533Ser|1684/6752|1597/6309|533/2102|| 22 21156416 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|13/54|c.1592-23A>G|||||| 22 21157642 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|12/54|c.1462-34A>G|||||| 22 21158703 . A G . . ANN=G|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|11/54|c.1361-15T>C|||||| 22 21159311 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|11/55|c.1311G>A|p.Ala437Ala|1398/6752|1311/6309|437/2102|| 22 21159355 . G A . . ANN=A|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|11/55|c.1267C>T|p.Arg423Trp|1354/6752|1267/6309|423/2102|| 22 21159437 . A G . . ANN=G|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|11/55|c.1185T>C|p.Phe395Phe|1272/6752|1185/6309|395/2102|| 22 21159480 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|10/54|c.1169-27G>A|||||| 22 21161796 . C T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|9/54|c.1072-50G>A|||||| 22 21165248 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|9/54|c.1071+7C>T|||||| 22 21165308 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|9/55|c.1018G>A|p.Val340Ile|1105/6752|1018/6309|340/2102|| 22 21165311 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|9/55|c.1015A>G|p.Ile339Val|1102/6752|1015/6309|339/2102|| 22 21167605 . G GACA . . ANN=GACA|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|8/54|c.1005+40_1005+41insTGT|||||| 22 21167606 . A ACAC . . ANN=ACAC|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|8/54|c.1005+39_1005+40insGTG|||||| 22 21167607 . C CAAT . . ANN=CAAT|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|8/54|c.1005+38_1005+39insATT|||||| 22 21167667 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|8/55|c.984G>A|p.Met328Ile|1071/6752|984/6309|328/2102|| 22 21167697 . T C . . ANN=C|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|8/55|c.954A>G|p.Thr318Thr|1041/6752|954/6309|318/2102|| 22 21167775 . C T . . ANN=T|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|8/55|c.876G>A|p.Gly292Gly|963/6752|876/6309|292/2102|| 22 21167781 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|8/55|c.870C>T|p.Pro290Pro|957/6752|870/6309|290/2102|| 22 21167787 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|8/55|c.864C>T|p.Cys288Cys|951/6752|864/6309|288/2102|| 22 21172754 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|7/54|c.856+17C>T|||||| 22 21172778 . G A . . ANN=A|synonymous_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|7/55|c.849C>T|p.Tyr283Tyr|936/6752|849/6309|283/2102|| 22 21173902 . G C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|6/54|c.789+27C>G|||||| 22 21174120 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|6/55|c.598A>G|p.Met200Val|685/6752|598/6309|200/2102|| 22 21174798 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|5/54|c.529+29A>G|||||| 22 21174855 . C A . . ANN=A|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|5/55|c.501G>T|p.Met167Ile|588/6752|501/6309|167/2102|| 22 21174902 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PI4KA|PI4KA|transcript|NM_058004.3|Coding|4/54|c.457-3C>T|||||| 22 21174913 . G A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|4/54|c.457-14C>T|||||| 22 21174920 . A AG . . ANN=AG|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|4/54|c.457-22_457-21insC|||||| 22 21174922 . A G . . ANN=G|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|4/54|c.457-23T>C|||||| 22 21174931 . AC A . . ANN=A|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|4/54|c.457-33delG|||||| 22 21178578 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|4/54|c.456+36A>G|||||| 22 21178633 . T C . . ANN=C|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|4/55|c.437A>G|p.Asp146Gly|524/6752|437/6309|146/2102|| 22 21178723 . A C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|3/54|c.368-21T>G|||||| 22 21188819 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|3/54|c.367+31A>G|||||| 22 21188823 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|3/54|c.367+27A>G|||||| 22 21188928 . C T . . ANN=T|missense_variant|MODERATE|PI4KA|PI4KA|transcript|NM_058004.3|Coding|3/55|c.289G>A|p.Val97Ile|376/6752|289/6309|97/2102|| 22 21188955 . T G . . ANN=G|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|2/54|c.274-12A>C|||||| 22 21188961 . G T . . ANN=T|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|2/54|c.274-18C>A|||||| 22 21188964 . T C . . ANN=C|intron_variant|MODIFIER|PI4KA|PI4KA|transcript|NM_058004.3|Coding|2/54|c.274-21A>G|||||| 22 21213367 . C G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.-32C>G||||||,G|5_prime_UTR_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.-32C>G|||||32| 22 21213380 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.-19C>T||||||,T|5_prime_UTR_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.-19C>T|||||19| 22 21213391 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.-8C>G|||||8| 22 21213394 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.-5G>A|||||5| 22 21213416 . A G . . ANN=G|synonymous_variant|LOW|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.18A>G|p.Lys6Lys|125/4261|18/777|6/258|| 22 21213463 . C T . . ANN=T|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.65C>T|p.Pro22Leu|172/4261|65/777|22/258|| 22 21213470 . T A . . ANN=A|synonymous_variant|LOW|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.72T>A|p.Pro24Pro|179/4261|72/777|24/258|| 22 21213479 . C G . . ANN=G|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.81C>G|p.Asp27Glu|188/4261|81/777|27/258|| 22 21213511 . C T . . ANN=T|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.113C>T|p.Pro38Leu|220/4261|113/777|38/258|| 22 21213516 . G A . . ANN=A|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.118G>A|p.Asp40Asn|225/4261|118/777|40/258|| 22 21213528 . T C . . ANN=C|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/5|c.130T>C|p.Tyr44His|237/4261|130/777|44/258|| 22 21224575 . G A . . ANN=A|intron_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/4|c.238-50G>A|||||| 22 21224581 . G A . . ANN=A|intron_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|1/4|c.238-44G>A|||||| 22 21224646 . G A . . ANN=A|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|2/5|c.259G>A|p.Val87Ile|366/4261|259/777|87/258|| 22 21224652 . G A . . ANN=A|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|2/5|c.265G>A|p.Glu89Lys|372/4261|265/777|89/258|| 22 21224705 . G C . . ANN=C|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|2/5|c.318G>C|p.Gln106His|425/4261|318/777|106/258|| 22 21224845 . G A . . ANN=A|intron_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|2/4|c.434+24G>A|||||| 22 21235306 . C T . . ANN=T|intron_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|2/4|c.435-31C>T|||||| 22 21235389 . A G . . ANN=G|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|3/5|c.487A>G|p.Ser163Gly|594/4261|487/777|163/258|| 22 21235417 . A C . . ANN=C|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|3/5|c.515A>C|p.Asp172Ala|622/4261|515/777|172/258|| 22 21237751 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|SNAP29|SNAP29|transcript|NM_004782.3|Coding|3/4|c.521-8A>T|||||| 22 21237816 . C G . . ANN=G|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|4/5|c.578C>G|p.Pro193Arg|685/4261|578/777|193/258|| 22 21237874 . C T . . ANN=T|intron_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|4/4|c.619+17C>T|||||| 22 21241923 . G A . . ANN=A|intron_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|4/4|c.620-44G>A|||||| 22 21241945 . G A . . ANN=A|intron_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|4/4|c.620-22G>A|||||| 22 21241954 . C T . . ANN=T|intron_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|4/4|c.620-13C>T|||||| 22 21241960 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|SNAP29|SNAP29|transcript|NM_004782.3|Coding|4/4|c.620-7C>G|||||| 22 21241970 . A T . . ANN=T|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|5/5|c.623A>T|p.Glu208Val|730/4261|623/777|208/258|| 22 21241976 . C T . . ANN=T|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|5/5|c.629C>T|p.Ser210Phe|736/4261|629/777|210/258|| 22 21242095 . A C . . ANN=C|missense_variant|MODERATE|SNAP29|SNAP29|transcript|NM_004782.3|Coding|5/5|c.748A>C|p.Ser250Arg|855/4261|748/777|250/258|| 22 21242113 . C T . . ANN=T|stop_gained|HIGH|SNAP29|SNAP29|transcript|NM_004782.3|Coding|5/5|c.766C>T|p.Arg256*|873/4261|766/777|256/258|| 22 21242150 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SNAP29|SNAP29|transcript|NM_004782.3|Coding|5/5|c.*26T>C|||||26| 22 21272182 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|CRKL|CRKL|transcript|NM_005207.3|Coding|1/3|c.-41A>G|||||41| 22 21272258 . C T . . ANN=T|synonymous_variant|LOW|CRKL|CRKL|transcript|NM_005207.3|Coding|1/3|c.36C>T|p.Ser12Ser|545/5325|36/912|12/303|| 22 21272300 . C G . . ANN=G|synonymous_variant|LOW|CRKL|CRKL|transcript|NM_005207.3|Coding|1/3|c.78C>G|p.Thr26Thr|587/5325|78/912|26/303|| 22 21288324 . A G . . ANN=G|missense_variant|MODERATE|CRKL|CRKL|transcript|NM_005207.3|Coding|2/3|c.569A>G|p.His190Arg|1078/5325|569/912|190/303|| 22 21288416 . G A . . ANN=A|missense_variant|MODERATE|CRKL|CRKL|transcript|NM_005207.3|Coding|2/3|c.661G>A|p.Gly221Ser|1170/5325|661/912|221/303|| 22 21303949 . C CTT . . ANN=CTT|intron_variant|MODIFIER|CRKL|CRKL|transcript|NM_005207.3|Coding|2/2|c.778-50_778-49insTT|||||| 22 21303955 . CTTG C . . ANN=C|intron_variant|MODIFIER|CRKL|CRKL|transcript|NM_005207.3|Coding|2/2|c.778-43_778-41delTTG|||||| 22 21304158 . CT C . . ANN=|3_prime_UTR_variant|MODIFIER|CRKL|CRKL|transcript|NM_005207.3|Coding|3/3|c.*28delT|||||28|INFO_REALIGN_3_PRIME 22 21322238 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|2/21|c.6C>T|p.Gly2Gly|224/2365|6/1818|2/605||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|2/20|c.6C>T|p.Gly2Gly|224/2344|6/1797|2/598||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|2/20|c.6C>T|p.Gly2Gly|291/2429|6/1815|2/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|2/19|n.291C>T|||||| 22 21322243 . G C . . ANN=C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|2/21|c.11G>C|p.Cys4Ser|229/2365|11/1818|4/605||,C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|2/20|c.11G>C|p.Cys4Ser|229/2344|11/1797|4/598||,C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|2/20|c.11G>C|p.Cys4Ser|296/2429|11/1815|4/604||,C|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|2/19|n.296G>C|||||| 22 21327589 . C T . . ANN=T|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|3/20|c.43C>T|p.Pro15Ser|328/2429|43/1815|15/604||,T|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|2/20|c.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|2/19|c.32-7C>T||||||,T|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|2/18|n.317-7C>T|||||| 22 21327642 . G A . . ANN=A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|3/21|c.78G>A|p.Lys26Lys|296/2365|78/1818|26/605||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|3/20|c.78G>A|p.Lys26Lys|296/2344|78/1797|26/598||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|3/20|c.96G>A|p.Lys32Lys|381/2429|96/1815|32/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/19|n.363G>A|||||| 22 21327798 . C A . . ANN=A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|3/21|c.234C>A|p.Leu78Leu|452/2365|234/1818|78/605||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|3/20|c.234C>A|p.Leu78Leu|452/2344|234/1797|78/598||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|3/20|c.252C>A|p.Leu84Leu|537/2429|252/1815|84/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/19|n.519C>A|||||| 22 21327834 . C G . . ANN=G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|3/20|c.245+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|3/19|c.245+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|3/19|c.263+25C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/18|n.530+25C>G|||||| 22 21327836 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|3/20|c.245+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|3/19|c.245+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|3/19|c.263+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/18|n.530+27G>A|||||| 22 21328017 . G T . . ANN=T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|3/20|c.246-30G>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|3/19|c.246-30G>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|3/19|c.264-30G>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/18|n.530+208G>T|||||| 22 21328036 . C T . . ANN=T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|3/20|c.246-11C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|3/19|c.246-11C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|3/19|c.264-11C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/18|n.530+227C>T|||||| 22 21328131 . G A . . ANN=A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|4/21|c.330G>A|p.Pro110Pro|548/2365|330/1818|110/605||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|4/20|c.330G>A|p.Pro110Pro|548/2344|330/1797|110/598||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|4/20|c.348G>A|p.Pro116Pro|633/2429|348/1815|116/604||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/18|n.531-221G>A|||||| 22 21328178 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|4/20|c.355+22G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|4/19|c.355+22G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|4/19|c.373+22G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/18|n.531-174G>A|||||| 22 21328327 . G C . . ANN=C|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|4/20|c.356-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|4/19|c.356-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|4/19|c.374-25G>C||||||,C|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|3/18|n.531-25G>C|||||| 22 21328435 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|5/21|c.439G>A|p.Gly147Ser|657/2365|439/1818|147/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|5/20|c.439G>A|p.Gly147Ser|657/2344|439/1797|147/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|5/20|c.457G>A|p.Gly153Ser|742/2429|457/1815|153/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|4/19|n.614G>A|||||| 22 21328477 . C T . . ANN=T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|5/20|c.465+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|5/19|c.465+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|5/19|c.483+16C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|4/18|n.640+16C>T|||||| 22 21328555 . G A . . ANN=A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|6/21|c.480G>A|p.Lys160Lys|698/2365|480/1818|160/605||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|6/20|c.480G>A|p.Lys160Lys|698/2344|480/1797|160/598||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|6/20|c.498G>A|p.Lys166Lys|783/2429|498/1815|166/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|5/19|n.655G>A|||||| 22 21328567 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|6/21|c.492C>T|p.Tyr164Tyr|710/2365|492/1818|164/605||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|6/20|c.492C>T|p.Tyr164Tyr|710/2344|492/1797|164/598||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|6/20|c.510C>T|p.Tyr170Tyr|795/2429|510/1815|170/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|5/19|n.667C>T|||||| 22 21328568 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|6/21|c.493G>A|p.Val165Ile|711/2365|493/1818|165/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|6/20|c.493G>A|p.Val165Ile|711/2344|493/1797|165/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|6/20|c.511G>A|p.Val171Ile|796/2429|511/1815|171/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|5/19|n.668G>A|||||| 22 21328572 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|6/21|c.497G>A|p.Arg166Gln|715/2365|497/1818|166/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|6/20|c.497G>A|p.Arg166Gln|715/2344|497/1797|166/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|6/20|c.515G>A|p.Arg172Gln|800/2429|515/1815|172/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|5/19|n.672G>A|||||| 22 21328876 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|7/21|c.573C>T|p.Tyr191Tyr|791/2365|573/1818|191/605||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|7/20|c.573C>T|p.Tyr191Tyr|791/2344|573/1797|191/598||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|7/20|c.591C>T|p.Tyr197Tyr|876/2429|591/1815|197/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|6/19|n.748C>T|||||| 22 21328899 . T C . . ANN=C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|7/21|c.596T>C|p.Ile199Thr|814/2365|596/1818|199/605||,C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|7/20|c.596T>C|p.Ile199Thr|814/2344|596/1797|199/598||,C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|7/20|c.614T>C|p.Ile205Thr|899/2429|614/1815|205/604||,C|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|6/19|n.771T>C|||||| 22 21328976 . C T . . ANN=T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|7/20|c.608-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|7/19|c.608-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|7/19|c.626-17C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|6/18|n.783-17C>T|||||| 22 21329052 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|8/21|c.667G>A|p.Val223Ile|885/2365|667/1818|223/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|8/20|c.667G>A|p.Val223Ile|885/2344|667/1797|223/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|8/20|c.685G>A|p.Val229Ile|970/2429|685/1815|229/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|7/19|n.842G>A|||||| 22 21329084 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|8/21|c.699C>T|p.Tyr233Tyr|917/2365|699/1818|233/605||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|8/20|c.699C>T|p.Tyr233Tyr|917/2344|699/1797|233/598||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|8/20|c.717C>T|p.Tyr239Tyr|1002/2429|717/1815|239/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|7/19|n.874C>T|||||| 22 21329120 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|8/20|c.720+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|8/19|c.720+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|8/19|c.738+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|7/18|n.895+15G>A|||||| 22 21329123 . A G . . ANN=G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|8/20|c.720+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|8/19|c.720+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|8/19|c.738+18A>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|7/18|n.895+18A>G|||||| 22 21330097 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|9/20|c.807+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|9/19|c.807+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|9/19|c.825+30G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|8/18|n.982+30G>A|||||| 22 21330116 . C G . . ANN=G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|9/20|c.807+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|9/19|c.807+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|9/19|c.825+49C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|8/18|n.982+49C>G|||||| 22 21330507 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|10/21|c.811G>A|p.Val271Ile|1029/2365|811/1818|271/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|10/20|c.811G>A|p.Val271Ile|1029/2344|811/1797|271/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|10/20|c.829G>A|p.Val277Ile|1114/2429|829/1815|277/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|9/19|n.986G>A|||||| 22 21330608 . C T . . ANN=T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|10/20|c.899+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|10/19|c.899+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|10/19|c.917+13C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|9/18|n.1074+13C>T|||||| 22 21330622 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|10/20|c.899+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|10/19|c.899+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|10/19|c.917+27G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|9/18|n.1074+27G>A|||||| 22 21330750 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|11/21|c.953G>A|p.Arg318Gln|1171/2365|953/1818|318/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|11/20|c.953G>A|p.Arg318Gln|1171/2344|953/1797|318/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|11/20|c.971G>A|p.Arg324Gln|1256/2429|971/1815|324/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|10/19|n.1128G>A|||||| 22 21330787 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|11/21|c.990C>T|p.Ala330Ala|1208/2365|990/1818|330/605||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|11/20|c.990C>T|p.Ala330Ala|1208/2344|990/1797|330/598||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|11/20|c.1008C>T|p.Ala336Ala|1293/2429|1008/1815|336/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|10/19|n.1165C>T|||||| 22 21330789 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|11/21|c.992G>A|p.Arg331Gln|1210/2365|992/1818|331/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|11/20|c.992G>A|p.Arg331Gln|1210/2344|992/1797|331/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|11/20|c.1010G>A|p.Arg337Gln|1295/2429|1010/1815|337/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|10/19|n.1167G>A|||||| 22 21330800 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|11/21|c.1003G>A|p.Val335Met|1221/2365|1003/1818|335/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|11/20|c.1003G>A|p.Val335Met|1221/2344|1003/1797|335/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|11/20|c.1021G>A|p.Val341Met|1306/2429|1021/1815|341/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|10/19|n.1178G>A|||||| 22 21330855 . T A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|11/20|c.1030+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|11/19|c.1030+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|11/19|c.1048+28T>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|10/18|n.1205+28T>A|||||| 22 21330939 . G A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|AIFM3|transcript|NM_144704.2|Coding|11/20|c.1031-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|11/19|c.1031-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|11/19|c.1049-1G>A||||||,A|splice_acceptor_variant&intron_variant|HIGH|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|10/18|n.1206-1G>A||||||;LOF=(AIFM3|AIFM3|4|0.75) 22 21331007 . G A . . ANN=A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|12/21|c.1098G>A|p.Thr366Thr|1316/2365|1098/1818|366/605||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|12/20|c.1098G>A|p.Thr366Thr|1316/2344|1098/1797|366/598||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|12/20|c.1116G>A|p.Thr372Thr|1401/2429|1116/1815|372/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|11/19|n.1273G>A|||||| 22 21331032 . C T . . ANN=T|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|12/21|c.1123C>T|p.Arg375Cys|1341/2365|1123/1818|375/605||,T|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|12/20|c.1123C>T|p.Arg375Cys|1341/2344|1123/1797|375/598||,T|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|12/20|c.1141C>T|p.Arg381Cys|1426/2429|1141/1815|381/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|11/19|n.1298C>T|||||| 22 21331043 . A T . . ANN=T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|12/21|c.1134A>T|p.Arg378Arg|1352/2365|1134/1818|378/605||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|12/20|c.1134A>T|p.Arg378Arg|1352/2344|1134/1797|378/598||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|12/20|c.1152A>T|p.Arg384Arg|1437/2429|1152/1815|384/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|11/19|n.1309A>T|||||| 22 21331056 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|AIFM3|AIFM3|transcript|NM_144704.2|Coding|12/20|c.1146+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|12/19|c.1146+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|12/19|c.1164+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|11/18|n.1321+1G>A||||||;LOF=(AIFM3|AIFM3|4|0.75) 22 21331129 . C T . . ANN=T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|12/20|c.1147-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|12/19|c.1147-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|12/19|c.1165-27C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|11/18|n.1322-27C>T|||||| 22 21331171 . C T . . ANN=T|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|13/21|c.1162C>T|p.Arg388Trp|1380/2365|1162/1818|388/605||,T|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|13/20|c.1162C>T|p.Arg388Trp|1380/2344|1162/1797|388/598||,T|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|13/20|c.1180C>T|p.Arg394Trp|1465/2429|1180/1815|394/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|12/19|n.1337C>T|||||| 22 21331194 . G A . . ANN=A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|13/21|c.1185G>A|p.Thr395Thr|1403/2365|1185/1818|395/605||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|13/20|c.1185G>A|p.Thr395Thr|1403/2344|1185/1797|395/598||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|13/20|c.1203G>A|p.Thr401Thr|1488/2429|1203/1815|401/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|12/19|n.1360G>A|||||| 22 21331233 . CCCTTCT C . . ANN=C|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|13/20|c.1218+7_1218+12delCCTTCT||||||,C|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|13/19|c.1218+7_1218+12delCCTTCT||||||,C|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|13/19|c.1236+7_1236+12delCCTTCT||||||,C|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|12/18|n.1393+7_1393+12delCCTTCT|||||| 22 21331427 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|14/20|c.1282+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|14/19|c.1282+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|14/19|c.1300+43G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|13/18|n.1457+43G>A|||||| 22 21331948 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|14/20|c.1283-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|14/19|c.1283-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|14/19|c.1301-41G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|13/18|n.1458-41G>A|||||| 22 21331950 . C G . . ANN=G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|14/20|c.1283-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|14/19|c.1283-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|14/19|c.1301-39C>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|13/18|n.1458-39C>G|||||| 22 21331959 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|14/20|c.1283-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|14/19|c.1283-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|14/19|c.1301-30G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|13/18|n.1458-30G>A|||||| 22 21332030 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|15/21|c.1324G>A|p.Gly442Ser|1542/2365|1324/1818|442/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|15/20|c.1324G>A|p.Gly442Ser|1542/2344|1324/1797|442/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|15/20|c.1342G>A|p.Gly448Ser|1627/2429|1342/1815|448/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|14/19|n.1499G>A|||||| 22 21332152 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|15/20|c.1360-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|15/19|c.1360-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|15/19|c.1378-25G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|14/18|n.1535-25G>A|||||| 22 21332187 . C G . . ANN=G|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|16/21|c.1370C>G|p.Thr457Ser|1588/2365|1370/1818|457/605||,G|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|16/20|c.1370C>G|p.Thr457Ser|1588/2344|1370/1797|457/598||,G|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|16/20|c.1388C>G|p.Thr463Ser|1673/2429|1388/1815|463/604||,G|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|15/19|n.1545C>G|||||| 22 21332263 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|16/21|c.1446C>T|p.Asn482Asn|1664/2365|1446/1818|482/605||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|16/20|c.1446C>T|p.Asn482Asn|1664/2344|1446/1797|482/598||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|16/20|c.1464C>T|p.Asn488Asn|1749/2429|1464/1815|488/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|15/19|n.1621C>T|||||| 22 21333542 . C T . . ANN=T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|16/20|c.1478-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|16/19|c.1478-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|16/19|c.1496-18C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|15/18|n.1653-18C>T|||||| 22 21333552 . T A . . ANN=A|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|16/20|c.1478-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|16/19|c.1478-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|16/19|c.1496-8T>A||||||,A|splice_region_variant&intron_variant|LOW|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|15/18|n.1653-8T>A|||||| 22 21333605 . G C . . ANN=C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|17/21|c.1523G>C|p.Ser508Thr|1741/2365|1523/1818|508/605||,C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|17/20|c.1523G>C|p.Ser508Thr|1741/2344|1523/1797|508/598||,C|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|17/20|c.1541G>C|p.Ser514Thr|1826/2429|1541/1815|514/604||,C|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|16/19|n.1698G>C|||||| 22 21333676 . GA G . . ANN=G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|17/20|c.1576+19delA||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|17/19|c.1576+19delA||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|17/19|c.1594+19delA||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|16/18|n.1751+19delA|||||| 22 21333903 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|17/20|c.1577-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|17/19|c.1577-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|17/19|c.1595-13G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|16/18|n.1752-13G>A|||||| 22 21333920 . C T . . ANN=T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|18/21|c.1581C>T|p.Tyr527Tyr|1799/2365|1581/1818|527/605||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|18/20|c.1581C>T|p.Tyr527Tyr|1799/2344|1581/1797|527/598||,T|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|18/20|c.1599C>T|p.Tyr533Tyr|1884/2429|1599/1815|533/604||,T|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|17/19|n.1756C>T|||||| 22 21334006 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|18/20|c.1652+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|18/19|c.1652+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|18/19|c.1670+15G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|17/18|n.1827+15G>A|||||| 22 21334007 . T G . . ANN=G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|18/20|c.1652+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|18/19|c.1652+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|18/19|c.1670+16T>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|17/18|n.1827+16T>G|||||| 22 21334389 . G A . . ANN=A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_144704.2|Coding|19/21|c.1733G>A|p.Arg578His|1951/2365|1733/1818|578/605||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|19/20|c.1733G>A|p.Arg578His|1951/2344|1733/1797|578/598||,A|missense_variant|MODERATE|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|19/20|c.1751G>A|p.Arg584His|2036/2429|1751/1815|584/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|18/19|n.1908G>A|||||| 22 21334461 . T G . . ANN=G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|19/20|c.1757+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|19/19|c.1757+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|19/19|c.1775+48T>G||||||,G|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|18/18|n.1932+48T>G|||||| 22 21335010 . C T . . ANN=T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|19/20|c.1758-26C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|19/19|c.1758-271C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|19/19|c.1776-271C>T||||||,T|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|18/18|n.1933-271C>T|||||| 22 21335074 . G A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|20/20|c.1778+18G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|19/19|c.1758-207G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|19/19|c.1776-207G>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|18/18|n.1933-207G>A|||||| 22 21335259 . C A . . ANN=A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|20/20|c.1779-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|19/19|c.1758-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|19/19|c.1776-22C>A||||||,A|intron_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|18/18|n.1933-22C>A|||||| 22 21335284 . T A . . ANN=A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_144704.2|Coding|21/21|c.1782T>A|p.Thr594Thr|2000/2365|1782/1818|594/605||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|20/20|c.1761T>A|p.Thr587Thr|1979/2344|1761/1797|587/598||,A|synonymous_variant|LOW|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|20/20|c.1779T>A|p.Thr593Thr|2064/2429|1779/1815|593/604||,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|19/19|n.1936T>A|||||| 22 21335329 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|21/21|c.*9G>A|||||9|,A|3_prime_UTR_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|20/20|c.*9G>A|||||9|,A|3_prime_UTR_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|20/20|c.*9G>A|||||9|,A|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|19/19|n.1981G>A|||||| 22 21335344 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_144704.2|Coding|21/21|c.*24A>G|||||24|,G|3_prime_UTR_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001018060.2|Coding|20/20|c.*24A>G|||||24|,G|3_prime_UTR_variant|MODIFIER|AIFM3|AIFM3|transcript|NM_001146288.1|Coding|20/20|c.*24A>G|||||24|,G|non_coding_exon_variant|MODIFIER|AIFM3|AIFM3|transcript|NR_027464.1|Noncoding|19/19|n.1996A>G|||||| 22 21336655 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|1/21|c.-6C>T|||||6| 22 21337266 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|1/20|c.201-50G>A|||||| 22 21337276 . A G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|1/20|c.201-40A>G|||||| 22 21337303 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|1/20|c.201-13C>T|||||| 22 21337306 . T C . . ANN=C|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|1/20|c.201-10T>C|||||| 22 21337308 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|1/20|c.201-8C>T|||||| 22 21337325 . G A . . ANN=A|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|2/21|c.210G>A|p.Lys70Lys|313/4315|210/2523|70/840|| 22 21337378 . GGTGA G . . ANN=G|splice_donor_variant&splice_region_variant&intron_variant|HIGH|LZTR1|LZTR1|transcript|NM_006767.3|Coding|2/20|c.263+1_263+4delGTGA||||||;LOF=(LZTR1|LZTR1|1|1.00) 22 21337385 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|2/20|c.263+7G>A|||||| 22 21337415 . C G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|2/20|c.263+37C>G|||||| 22 21337421 . A G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|2/20|c.263+43A>G|||||| 22 21340088 . T C . . ANN=C|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|2/20|c.264-42T>C|||||| 22 21340116 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|2/20|c.264-14C>T|||||| 22 21340198 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|3/20|c.320+12C>T|||||| 22 21340199 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|3/20|c.320+13G>A|||||| 22 21341771 . A G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|3/20|c.321-22A>G|||||| 22 21341896 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|4/20|c.400+24G>A|||||| 22 21341910 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|4/20|c.400+38C>T|||||| 22 21342253 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|4/20|c.401-46C>T|||||| 22 21342273 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|4/20|c.401-26G>A|||||| 22 21342451 . G T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|5/20|c.509+44G>T|||||| 22 21343172 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|6/20|c.593+11G>A|||||| 22 21343195 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|6/20|c.593+34C>T|||||| 22 21343981 . GTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|7/20|c.651+11_651+47delTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCA|||||| 22 21343982 . TGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|7/20|c.651+12_651+48delGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCAC|||||| 22 21344002 . AGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|7/20|c.651+32_651+68delGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTG|||||| 22 21344651 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|7/20|c.652-24C>T|||||| 22 21344689 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|8/21|c.666C>T|p.Gly222Gly|769/4315|666/2523|222/840|| 22 21344701 . A T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|8/21|c.678A>T|p.Pro226Pro|781/4315|678/2523|226/840|| 22 21344746 . T C . . ANN=C|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|8/21|c.723T>C|p.Phe241Phe|826/4315|723/2523|241/840|| 22 21344764 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|8/21|c.741C>T|p.Ser247Ser|844/4315|741/2523|247/840|| 22 21344848 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|8/20|c.791+34C>T|||||| 22 21345980 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|9/21|c.855C>T|p.Tyr285Tyr|958/4315|855/2523|285/840|| 22 21346031 . G A . . ANN=A|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|9/21|c.906G>A|p.Ala302Ala|1009/4315|906/2523|302/840|| 22 21346095 . G A . . ANN=A|missense_variant|MODERATE|LZTR1|LZTR1|transcript|NM_006767.3|Coding|9/21|c.970G>A|p.Val324Ile|1073/4315|970/2523|324/840|| 22 21346458 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|9/20|c.994-45G>A|||||| 22 21346485 . T C . . ANN=C|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|9/20|c.994-18T>C|||||| 22 21346557 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|10/21|c.1048C>T|p.Leu350Leu|1151/4315|1048/2523|350/840|| 22 21346674 . C A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|10/20|c.1149+16C>A|||||| 22 21347142 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|11/21|c.1209C>T|p.Phe403Phe|1312/4315|1209/2523|403/840|| 22 21347194 . G T . . ANN=T|splice_donor_variant&intron_variant|HIGH|LZTR1|LZTR1|transcript|NM_006767.3|Coding|11/20|c.1260+1G>T||||||;LOF=(LZTR1|LZTR1|1|1.00) 22 21347220 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|11/20|c.1260+27C>T|||||| 22 21347925 . C G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|11/20|c.1261-26C>G|||||| 22 21348051 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|12/20|c.1353+8C>G|||||| 22 21348084 . T C . . ANN=C|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|12/20|c.1353+41T>C|||||| 22 21348266 . G A . . ANN=A|stop_gained|HIGH|LZTR1|LZTR1|transcript|NM_006767.3|Coding|13/21|c.1407G>A|p.Trp469*|1510/4315|1407/2523|469/840||;LOF=(LZTR1|LZTR1|1|1.00);NMD=(LZTR1|LZTR1|1|1.00) 22 21348284 . G A . . ANN=A|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|13/21|c.1425G>A|p.Thr475Thr|1528/4315|1425/2523|475/840|| 22 21348348 . G T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|13/20|c.1449+40G>T|||||| 22 21348473 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|14/21|c.1530C>T|p.His510His|1633/4315|1530/2523|510/840|| 22 21348588 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|14/20|c.1615+30G>A|||||| 22 21348806 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|14/20|c.1616-41C>T|||||| 22 21348914 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|15/21|c.1683C>T|p.Arg561Arg|1786/4315|1683/2523|561/840|| 22 21348954 . G A . . ANN=A|missense_variant|MODERATE|LZTR1|LZTR1|transcript|NM_006767.3|Coding|15/21|c.1723G>A|p.Asp575Asn|1826/4315|1723/2523|575/840|| 22 21349037 . A G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|15/20|c.1785+21A>G|||||| 22 21349151 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|15/20|c.1786-8T>C|||||| 22 21349277 . C T . . ANN=T|missense_variant|MODERATE|LZTR1|LZTR1|transcript|NM_006767.3|Coding|16/21|c.1904C>T|p.Pro635Leu|2007/4315|1904/2523|635/840|| 22 21349280 . C T . . ANN=T|missense_variant|MODERATE|LZTR1|LZTR1|transcript|NM_006767.3|Coding|16/21|c.1907C>T|p.Pro636Leu|2010/4315|1907/2523|636/840|| 22 21349312 . A G . . ANN=G|missense_variant|MODERATE|LZTR1|LZTR1|transcript|NM_006767.3|Coding|16/21|c.1939A>G|p.Ile647Val|2042/4315|1939/2523|647/840|| 22 21349987 . A G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|16/20|c.1943-48A>G|||||| 22 21350008 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|16/20|c.1943-27C>T|||||| 22 21350054 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|17/21|c.1962C>T|p.Asp654Asp|2065/4315|1962/2523|654/840|| 22 21350099 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|17/21|c.2007C>T|p.Ile669Ile|2110/4315|2007/2523|669/840|| 22 21350114 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|17/21|c.2022C>T|p.Asp674Asp|2125/4315|2022/2523|674/840|| 22 21350162 . G C . . ANN=C|splice_donor_variant&intron_variant|HIGH|LZTR1|LZTR1|transcript|NM_006767.3|Coding|17/20|c.2069+1G>C||||||;LOF=(LZTR1|LZTR1|1|1.00) 22 21350285 . C A,G,T . . ANN=A|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/21|c.2103C>A|p.Pro701Pro|2206/4315|2103/2523|701/840||,G|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/21|c.2103C>G|p.Pro701Pro|2206/4315|2103/2523|701/840||,T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/21|c.2103C>T|p.Pro701Pro|2206/4315|2103/2523|701/840|| 22 21350342 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/21|c.2160C>T|p.Phe720Phe|2263/4315|2160/2523|720/840|| 22 21350369 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/21|c.2187C>T|p.Tyr729Tyr|2290/4315|2187/2523|729/840|| 22 21350370 . G A . . ANN=A|missense_variant|MODERATE|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/21|c.2188G>A|p.Gly730Ser|2291/4315|2188/2523|730/840|| 22 21350414 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/20|c.2219+13C>T|||||| 22 21350936 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/20|c.2220-49G>A|||||| 22 21350947 . A G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/20|c.2220-38A>G|||||| 22 21350974 . C G . . ANN=G|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|18/20|c.2220-11C>G|||||| 22 21351137 . G A . . ANN=A|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|19/20|c.2326-38G>A|||||| 22 21351169 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|19/20|c.2326-6T>C|||||| 22 21351222 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|20/21|c.2373C>T|p.His791His|2476/4315|2373/2523|791/840|| 22 21351502 . C T . . ANN=T|intron_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|20/20|c.2407-19C>T|||||| 22 21351625 . C T . . ANN=T|synonymous_variant|LOW|LZTR1|LZTR1|transcript|NM_006767.3|Coding|21/21|c.2511C>T|p.Gly837Gly|2614/4315|2511/2523|837/840|| 22 21351657 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|21/21|c.*20A>G|||||20| 22 21351679 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|LZTR1|LZTR1|transcript|NM_006767.3|Coding|21/21|c.*42G>A|||||42| 22 21354151 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.*18C>T|||||18|,A|3_prime_UTR_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.*18C>T|||||18| 22 21354152 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.*17C>T|||||17|,A|3_prime_UTR_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.*17C>T|||||17| 22 21354158 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.*11G>C|||||11|,G|3_prime_UTR_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.*11G>C|||||11| 22 21354164 . G GC . . ANN=GC|3_prime_UTR_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.*4dupG|||||4|,GC|3_prime_UTR_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.*4dupG|||||4| 22 21354310 . C A . . ANN=A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.789G>T|p.Arg263Arg|819/1068|789/930|263/309||,A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.789G>T|p.Arg263Arg|993/1242|789/930|263/309|| 22 21354411 . G C . . ANN=C|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.688C>G|p.His230Asp|718/1068|688/930|230/309||,C|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.688C>G|p.His230Asp|892/1242|688/930|230/309|| 22 21354436 . G C . . ANN=C|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.663C>G|p.Pro221Pro|693/1068|663/930|221/309||,C|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.663C>G|p.Pro221Pro|867/1242|663/930|221/309|| 22 21354460 . C T . . ANN=T|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.639G>A|p.Ala213Ala|669/1068|639/930|213/309||,T|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.639G>A|p.Ala213Ala|843/1242|639/930|213/309|| 22 21354487 . G C . . ANN=C|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.612C>G|p.Leu204Leu|642/1068|612/930|204/309||,C|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.612C>G|p.Leu204Leu|816/1242|612/930|204/309|| 22 21354503 . C T . . ANN=T|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.596G>A|p.Arg199Gln|626/1068|596/930|199/309||,T|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.596G>A|p.Arg199Gln|800/1242|596/930|199/309|| 22 21354595 . C A . . ANN=A|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.504G>T|p.Glu168Asp|534/1068|504/930|168/309||,A|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.504G>T|p.Glu168Asp|708/1242|504/930|168/309|| 22 21354621 . G A . . ANN=A|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.478C>T|p.Pro160Ser|508/1068|478/930|160/309||,A|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.478C>T|p.Pro160Ser|682/1242|478/930|160/309|| 22 21354676 . T A . . ANN=A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.423A>T|p.Pro141Pro|453/1068|423/930|141/309||,A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.423A>T|p.Pro141Pro|627/1242|423/930|141/309|| 22 21354680 . G C . . ANN=C|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|5/5|c.419C>G|p.Pro140Arg|449/1068|419/930|140/309||,C|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|4/4|c.419C>G|p.Pro140Arg|623/1242|419/930|140/309|| 22 21354748 . T G . . ANN=G|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|4/4|c.378-27A>C||||||,G|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|3/3|c.378-27A>C|||||| 22 21354915 . TC T . . ANN=T|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|4/4|c.377+20delG||||||,T|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|3/3|c.377+20delG|||||| 22 21354956 . C G . . ANN=G|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|4/5|c.357G>C|p.Arg119Arg|387/1068|357/930|119/309||,G|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|3/4|c.357G>C|p.Arg119Arg|561/1242|357/930|119/309|| 22 21354970 . C G . . ANN=G|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|4/5|c.343G>C|p.Ala115Pro|373/1068|343/930|115/309||,G|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|3/4|c.343G>C|p.Ala115Pro|547/1242|343/930|115/309|| 22 21355046 . G A . . ANN=A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|4/5|c.267C>T|p.Val89Val|297/1068|267/930|89/309||,A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|3/4|c.267C>T|p.Val89Val|471/1242|267/930|89/309|| 22 21355101 . A G . . ANN=G|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|3/4|c.237-25T>C||||||,G|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|2/3|c.237-25T>C|||||| 22 21355501 . G A . . ANN=A|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|3/4|c.236+44C>T||||||,A|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|2/3|c.236+44C>T|||||| 22 21355503 . G GC . . ANN=GC|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|3/4|c.236+41_236+42insG||||||,GC|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|2/3|c.236+41_236+42insG|||||| 22 21355530 . G A . . ANN=A|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_001008695.1|Coding|3/4|c.236+15C>T||||||,A|intron_variant|MODIFIER|THAP7|THAP7|transcript|NM_030573.2|Coding|2/3|c.236+15C>T|||||| 22 21355571 . C T . . ANN=T|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|3/5|c.210G>A|p.Glu70Glu|240/1068|210/930|70/309||,T|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|2/4|c.210G>A|p.Glu70Glu|414/1242|210/930|70/309|| 22 21355576 . C G . . ANN=G|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|3/5|c.205G>C|p.Glu69Gln|235/1068|205/930|69/309||,G|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|2/4|c.205G>C|p.Glu69Gln|409/1242|205/930|69/309|| 22 21355607 . G A . . ANN=A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|3/5|c.174C>T|p.Ser58Ser|204/1068|174/930|58/309||,A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|2/4|c.174C>T|p.Ser58Ser|378/1242|174/930|58/309|| 22 21355612 . C A . . ANN=A|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|3/5|c.169G>T|p.Ala57Ser|199/1068|169/930|57/309||,A|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|2/4|c.169G>T|p.Ala57Ser|373/1242|169/930|57/309|| 22 21356159 . G A . . ANN=A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_001008695.1|Coding|2/5|c.42C>T|p.Asp14Asp|72/1068|42/930|14/309||,A|synonymous_variant|LOW|THAP7|THAP7|transcript|NM_030573.2|Coding|1/4|c.42C>T|p.Asp14Asp|246/1242|42/930|14/309|| 22 21356175 . C T . . ANN=T|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_001008695.1|Coding|2/5|c.26G>A|p.Gly9Asp|56/1068|26/930|9/309||,T|missense_variant|MODERATE|THAP7|THAP7|transcript|NM_030573.2|Coding|1/4|c.26G>A|p.Gly9Asp|230/1242|26/930|9/309|| 22 21369521 . T C . . ANN=C|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_005446.3|Coding|1/12|c.58T>C|p.Trp20Arg|58/2722|58/1326|20/441||,C|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|1/12|c.58T>C|p.Trp20Arg|80/2666|58/1248|20/415|| 22 21369611 . G A . . ANN=A|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_005446.3|Coding|1/12|c.148G>A|p.Val50Met|148/2722|148/1326|50/441||,A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|1/11|c.86+62G>A|||||| 22 21370197 . G A . . ANN=A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|1/11|c.165-34G>A||||||,A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|1/11|c.87-34G>A|||||| 22 21370237 . T G . . ANN=G|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|2/12|c.171T>G|p.Ala57Ala|171/2722|171/1326|57/441||,G|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|2/12|c.93T>G|p.Ala31Ala|115/2666|93/1248|31/415|| 22 21370243 . C G . . ANN=G|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|2/12|c.177C>G|p.Leu59Leu|177/2722|177/1326|59/441||,G|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|2/12|c.99C>G|p.Leu33Leu|121/2666|99/1248|33/415|| 22 21372374 . G A . . ANN=A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|3/11|c.387+25G>A||||||,A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|3/11|c.309+25G>A|||||| 22 21377036 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|4/12|c.459C>T|p.Ser153Ser|459/2722|459/1326|153/441||,T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|4/12|c.381C>T|p.Ser127Ser|403/2666|381/1248|127/415|| 22 21377051 . G A . . ANN=A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|4/11|c.463+11G>A||||||,A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|4/11|c.385+11G>A|||||| 22 21377071 . C T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|4/11|c.463+31C>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|4/11|c.385+31C>T|||||| 22 21377076 . G A . . ANN=A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|4/11|c.463+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|4/11|c.385+36G>A|||||| 22 21377191 . C T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|4/11|c.464-40C>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|4/11|c.386-40C>T|||||| 22 21377220 . T C . . ANN=C|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|4/11|c.464-11T>C||||||,C|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|4/11|c.386-11T>C|||||| 22 21377301 . C A . . ANN=A|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|5/12|c.534C>A|p.Pro178Pro|534/2722|534/1326|178/441||,A|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|5/12|c.456C>A|p.Pro152Pro|478/2666|456/1248|152/415|| 22 21377325 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|P2RX6|P2RX6|transcript|NM_005446.3|Coding|5/11|c.557+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|5/11|c.479+1G>A||||||;LOF=(P2RX6|P2RX6|2|1.00) 22 21377334 . C T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|5/11|c.557+10C>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|5/11|c.479+10C>T|||||| 22 21377358 . C T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|5/11|c.557+34C>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|5/11|c.479+34C>T|||||| 22 21377542 . T C . . ANN=C|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|6/11|c.639-22T>C||||||,C|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|6/11|c.561-22T>C|||||| 22 21377636 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|7/12|c.711C>T|p.Tyr237Tyr|711/2722|711/1326|237/441||,T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|7/12|c.633C>T|p.Tyr211Tyr|655/2666|633/1248|211/415|| 22 21377643 . G A . . ANN=A|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_005446.3|Coding|7/12|c.718G>A|p.Val240Met|718/2722|718/1326|240/441||,A|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|7/12|c.640G>A|p.Val214Met|662/2666|640/1248|214/415|| 22 21377650 . G A . . ANN=A|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_005446.3|Coding|7/12|c.725G>A|p.Arg242His|725/2722|725/1326|242/441||,A|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|7/12|c.647G>A|p.Arg216His|669/2666|647/1248|216/415|| 22 21377712 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|7/11|c.780+7C>T||||||,T|splice_region_variant&intron_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|7/11|c.702+7C>T|||||| 22 21377842 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|8/12|c.825C>T|p.Asp275Asp|825/2722|825/1326|275/441||,T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|8/12|c.747C>T|p.Asp249Asp|769/2666|747/1248|249/415|| 22 21377943 . G A . . ANN=A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|8/11|c.890+36G>A||||||,A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|8/11|c.812+36G>A|||||| 22 21377949 . C T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|8/11|c.890+42C>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|8/11|c.812+42C>T|||||| 22 21377953 . C T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|8/11|c.890+46C>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|8/11|c.812+46C>T|||||| 22 21380048 . G A . . ANN=A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|8/11|c.891-46G>A||||||,A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|8/11|c.813-46G>A|||||| 22 21380064 . G A . . ANN=A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|8/11|c.891-30G>A||||||,A|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|8/11|c.813-30G>A|||||| 22 21380118 . A G . . ANN=G|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|9/12|c.915A>G|p.Gln305Gln|915/2722|915/1326|305/441||,G|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|9/12|c.837A>G|p.Gln279Gln|859/2666|837/1248|279/415|| 22 21380181 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|9/12|c.978C>T|p.Thr326Thr|978/2722|978/1326|326/441||,T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|9/12|c.900C>T|p.Thr300Thr|922/2666|900/1248|300/415|| 22 21380207 . A T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|9/11|c.984+20A>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|9/11|c.906+20A>T|||||| 22 21380227 . C T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|9/11|c.984+40C>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|9/11|c.906+40C>T|||||| 22 21380236 . A G . . ANN=G|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|9/11|c.984+49A>G||||||,G|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|9/11|c.906+49A>G|||||| 22 21380311 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|10/12|c.996C>T|p.Phe332Phe|996/2722|996/1326|332/441||,T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|10/12|c.918C>T|p.Phe306Phe|940/2666|918/1248|306/415|| 22 21380344 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|10/12|c.1029C>T|p.Thr343Thr|1029/2722|1029/1326|343/441||,T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|10/12|c.951C>T|p.Thr317Thr|973/2666|951/1248|317/415|| 22 21380379 . C CT . . ANN=CT|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|10/11|c.1050+14_1050+15insT||||||,CT|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|10/11|c.972+14_972+15insT|||||| 22 21380629 . G T . . ANN=T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|11/11|c.1128+11G>T||||||,T|intron_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|11/11|c.1050+11G>T|||||| 22 21380732 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|12/12|c.1152C>T|p.Ala384Ala|1152/2722|1152/1326|384/441||,T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|12/12|c.1074C>T|p.Ala358Ala|1096/2666|1074/1248|358/415|| 22 21380745 . A C . . ANN=C|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|12/12|c.1165A>C|p.Arg389Arg|1165/2722|1165/1326|389/441||,C|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|12/12|c.1087A>C|p.Arg363Arg|1109/2666|1087/1248|363/415|| 22 21380795 . G A . . ANN=A|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|12/12|c.1215G>A|p.Arg405Arg|1215/2722|1215/1326|405/441||,A|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|12/12|c.1137G>A|p.Arg379Arg|1159/2666|1137/1248|379/415|| 22 21380810 . A G . . ANN=G|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|12/12|c.1230A>G|p.Ala410Ala|1230/2722|1230/1326|410/441||,G|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|12/12|c.1152A>G|p.Ala384Ala|1174/2666|1152/1248|384/415|| 22 21380895 . G A . . ANN=A|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_005446.3|Coding|12/12|c.1315G>A|p.Gly439Arg|1315/2722|1315/1326|439/441||,A|missense_variant|MODERATE|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|12/12|c.1237G>A|p.Gly413Arg|1259/2666|1237/1248|413/415|| 22 21380900 . C T . . ANN=T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_005446.3|Coding|12/12|c.1320C>T|p.Ser440Ser|1320/2722|1320/1326|440/441||,T|synonymous_variant|LOW|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|12/12|c.1242C>T|p.Ser414Ser|1264/2666|1242/1248|414/415|| 22 21380908 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_005446.3|Coding|12/12|c.*2C>G|||||2|,G|3_prime_UTR_variant|MODIFIER|P2RX6|P2RX6|transcript|NM_001159554.1|Coding|12/12|c.*2C>G|||||2| 22 21383312 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|5/5|c.*32C>T|||||32| 22 21383322 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|5/5|c.*22C>T|||||22| 22 21383341 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|5/5|c.*3G>A|||||3| 22 21383420 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|5/5|c.1832G>A|p.Gly611Asp|1900/2313|1832/1908|611/635|| 22 21383429 . A T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|5/5|c.1823T>A|p.Phe608Tyr|1891/2313|1823/1908|608/635|| 22 21383541 . G A . . ANN=A|intron_variant|MODIFIER|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|4/4|c.1733-22C>T|||||| 22 21383604 . C T . . ANN=T|intron_variant|MODIFIER|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|4/4|c.1732+21G>A|||||| 22 21383661 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|4/5|c.1696C>T|p.Leu566Leu|1764/2313|1696/1908|566/635|| 22 21384017 . G T . . ANN=T|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1606C>A|p.Arg536Arg|1674/2313|1606/1908|536/635|| 22 21384071 . T TG . . ANN=TG|frameshift_variant|HIGH|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1551dupC|p.Ser518fs|1619/2313|1551/1908|517/635||;LOF=(SLC7A4|SLC7A4|1|1.00) 22 21384206 . T C . . ANN=C|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1417A>G|p.Ser473Gly|1485/2313|1417/1908|473/635|| 22 21384275 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1348G>A|p.Ala450Thr|1416/2313|1348/1908|450/635|| 22 21384295 . T C . . ANN=C|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1328A>G|p.Gln443Arg|1396/2313|1328/1908|443/635|| 22 21384318 . C A . . ANN=A|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1305G>T|p.Gln435His|1373/2313|1305/1908|435/635|| 22 21384336 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1287C>T|p.Gly429Gly|1355/2313|1287/1908|429/635|| 22 21384374 . A T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1249T>A|p.Ser417Thr|1317/2313|1249/1908|417/635|| 22 21384411 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1212C>T|p.Phe404Phe|1280/2313|1212/1908|404/635|| 22 21384470 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1153C>T|p.Leu385Leu|1221/2313|1153/1908|385/635|| 22 21384475 . A C . . ANN=C|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1148T>G|p.Leu383Arg|1216/2313|1148/1908|383/635|| 22 21384490 . G A . . ANN=A|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1133C>T|p.Thr378Met|1201/2313|1133/1908|378/635|| 22 21384516 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1107G>A|p.Ala369Ala|1175/2313|1107/1908|369/635|| 22 21384532 . G T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1091C>A|p.Thr364Lys|1159/2313|1091/1908|364/635|| 22 21384578 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1045G>A|p.Ala349Thr|1113/2313|1045/1908|349/635|| 22 21384598 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|3/5|c.1025G>A|p.Arg342His|1093/2313|1025/1908|342/635|| 22 21385191 . G T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.911C>A|p.Ala304Glu|979/2313|911/1908|304/635|| 22 21385196 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.906C>T|p.Asp302Asp|974/2313|906/1908|302/635|| 22 21385201 . G T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.901C>A|p.Pro301Thr|969/2313|901/1908|301/635|| 22 21385277 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.825G>A|p.Ser275Ser|893/2313|825/1908|275/635|| 22 21385349 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.753C>T|p.Phe251Phe|821/2313|753/1908|251/635|| 22 21385393 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.709G>A|p.Val237Ile|777/2313|709/1908|237/635|| 22 21385420 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.682G>A|p.Gly228Ser|750/2313|682/1908|228/635|| 22 21385427 . G C . . ANN=C|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.675C>G|p.Asp225Glu|743/2313|675/1908|225/635|| 22 21385533 . A C . . ANN=C|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.569T>G|p.Val190Gly|637/2313|569/1908|190/635|| 22 21385730 . G C . . ANN=C|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.372C>G|p.Leu124Leu|440/2313|372/1908|124/635|| 22 21385769 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.333C>T|p.Gly111Gly|401/2313|333/1908|111/635|| 22 21385770 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.332G>A|p.Gly111Asp|400/2313|332/1908|111/635|| 22 21385843 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.259C>T|p.Leu87Leu|327/2313|259/1908|87/635|| 22 21385876 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.226G>A|p.Gly76Ser|294/2313|226/1908|76/635|| 22 21385907 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.195G>A|p.Glu65Glu|263/2313|195/1908|65/635|| 22 21385918 . C T . . ANN=T|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.184G>A|p.Val62Met|252/2313|184/1908|62/635|| 22 21385919 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.183C>T|p.Ala61Ala|251/2313|183/1908|61/635|| 22 21385954 . T C . . ANN=C|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.148A>G|p.Met50Val|216/2313|148/1908|50/635|| 22 21385961 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.141G>A|p.Val47Val|209/2313|141/1908|47/635|| 22 21385964 . G A . . ANN=A|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.138C>T|p.Gly46Gly|206/2313|138/1908|46/635|| 22 21385985 . C T . . ANN=T|synonymous_variant|LOW|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.117G>A|p.Thr39Thr|185/2313|117/1908|39/635|| 22 21386019 . G A . . ANN=A|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.83C>T|p.Thr28Ile|151/2313|83/1908|28/635|| 22 21386029 . CCAG C . . ANN=C|inframe_deletion|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.70_72delCTG|p.Leu24del|140/2313|70/1908|24/635|| 22 21386079 . A G . . ANN=G|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.23T>C|p.Ile8Thr|91/2313|23/1908|8/635|| 22 21386095 . G A . . ANN=A|missense_variant|MODERATE|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.7C>T|p.Arg3Trp|75/2313|7/1908|3/635|| 22 21386112 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SLC7A4|SLC7A4|transcript|NM_004173.2|Coding|2/5|c.-11G>A|||||11| 22 21797101 . CG C . . ANN=C|5_prime_UTR_variant|MODIFIER|HIC2|HIC2|transcript|NM_015094.2|Coding|2/3|c.-19delG|||||19| 22 21799232 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.48C>T|p.Arg16Arg|278/6796|48/1848|16/615|| 22 21799251 . A G . . ANN=G|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.67A>G|p.Met23Val|297/6796|67/1848|23/615|| 22 21799325 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.141C>T|p.Asp47Asp|371/6796|141/1848|47/615|| 22 21799610 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.426C>T|p.Ala142Ala|656/6796|426/1848|142/615|| 22 21799658 . G C . . ANN=C|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.474G>C|p.Arg158Arg|704/6796|474/1848|158/615|| 22 21799758 . C T . . ANN=T|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.574C>T|p.Pro192Ser|804/6796|574/1848|192/615|| 22 21799870 . G T . . ANN=T|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.686G>T|p.Gly229Val|916/6796|686/1848|229/615|| 22 21799871 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.687C>T|p.Gly229Gly|917/6796|687/1848|229/615|| 22 21799889 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.705C>T|p.Asn235Asn|935/6796|705/1848|235/615|| 22 21799890 . G A . . ANN=A|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.706G>A|p.Gly236Arg|936/6796|706/1848|236/615|| 22 21799907 . C G . . ANN=G|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.723C>G|p.Cys241Trp|953/6796|723/1848|241/615|| 22 21800042 . T C . . ANN=C|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.858T>C|p.Ala286Ala|1088/6796|858/1848|286/615|| 22 21800043 . C T . . ANN=T|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.859C>T|p.Pro287Ser|1089/6796|859/1848|287/615|| 22 21800049 . G A . . ANN=A|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.865G>A|p.Val289Ile|1095/6796|865/1848|289/615|| 22 21800129 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.945C>T|p.His315His|1175/6796|945/1848|315/615|| 22 21800180 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.996C>T|p.His332His|1226/6796|996/1848|332/615|| 22 21800269 . C T . . ANN=T|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1085C>T|p.Pro362Leu|1315/6796|1085/1848|362/615|| 22 21800277 . G A . . ANN=A|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1093G>A|p.Glu365Lys|1323/6796|1093/1848|365/615|| 22 21800420 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1236C>T|p.Ser412Ser|1466/6796|1236/1848|412/615|| 22 21800438 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1254C>T|p.Ser418Ser|1484/6796|1254/1848|418/615|| 22 21800444 . T C . . ANN=C|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1260T>C|p.His420His|1490/6796|1260/1848|420/615|| 22 21800456 . C T . . ANN=T|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1272C>T|p.His424His|1502/6796|1272/1848|424/615|| 22 21800610 . G C . . ANN=C|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1426G>C|p.Ala476Pro|1656/6796|1426/1848|476/615|| 22 21800813 . G A . . ANN=A|synonymous_variant|LOW|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1629G>A|p.Thr543Thr|1859/6796|1629/1848|543/615|| 22 21800967 . G A . . ANN=A|missense_variant|MODERATE|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.1783G>A|p.Gly595Arg|2013/6796|1783/1848|595/615|| 22 21801047 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|HIC2|HIC2|transcript|NM_015094.2|Coding|3/3|c.*15C>T|||||15| 22 21922094 . G T . . ANN=T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_001256355.1|Coding|1/3|c.201+18155G>T||||||,T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_001256356.1|Coding|1/2|c.27+34G>T||||||,T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_003347.3|Coding|1/3|c.27+34G>T||||||,T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NR_028436.2|Noncoding|1/4|n.225+34G>T||||||,T|non_coding_exon_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NR_046082.1|Noncoding|1/4|n.76G>T|||||| 22 21947126 . C G . . ANN=G|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_001256355.1|Coding|1/3|c.202-24C>G||||||,G|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_001256356.1|Coding|1/2|c.28-18020C>G||||||,G|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_003347.3|Coding|1/3|c.28-24C>G||||||,G|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NR_028436.2|Noncoding|1/4|n.226-24C>G||||||,G|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NR_046082.1|Noncoding|1/3|n.649-24C>G|||||| 22 21965359 . G A . . ANN=A|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_001256355.1|Coding|3/3|c.484+27G>A||||||,A|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_001256356.1|Coding|2/2|c.214+27G>A||||||,A|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_003347.3|Coding|3/3|c.310+27G>A||||||,A|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NR_028436.2|Noncoding|3/4|n.508+27G>A||||||,A|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NR_046082.1|Noncoding|3/3|n.931+27G>A|||||| 22 21965378 . G T . . ANN=T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_001256355.1|Coding|3/3|c.484+46G>T||||||,T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_001256356.1|Coding|2/2|c.214+46G>T||||||,T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NM_003347.3|Coding|3/3|c.310+46G>T||||||,T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NR_028436.2|Noncoding|3/4|n.508+46G>T||||||,T|intron_variant|MODIFIER|UBE2L3|UBE2L3|transcript|NR_046082.1|Noncoding|3/3|n.931+46G>T|||||| 22 21982809 . G T . . ANN=T|synonymous_variant|LOW|YDJC|YDJC|transcript|NM_001017964.1|Coding|5/5|c.870C>A|p.Gly290Gly|907/1338|870/972|290/323|| 22 21982892 . C T . . ANN=T|missense_variant|MODERATE|YDJC|YDJC|transcript|NM_001017964.1|Coding|5/5|c.787G>A|p.Ala263Thr|824/1338|787/972|263/323|| 22 21982911 . G C . . ANN=C|synonymous_variant|LOW|YDJC|YDJC|transcript|NM_001017964.1|Coding|5/5|c.768C>G|p.Gly256Gly|805/1338|768/972|256/323|| 22 21982924 . G C . . ANN=C|missense_variant|MODERATE|YDJC|YDJC|transcript|NM_001017964.1|Coding|5/5|c.755C>G|p.Pro252Arg|792/1338|755/972|252/323|| 22 21982978 . G A . . ANN=A|missense_variant|MODERATE|YDJC|YDJC|transcript|NM_001017964.1|Coding|5/5|c.701C>T|p.Ala234Val|738/1338|701/972|234/323|| 22 21983105 . A C . . ANN=C|intron_variant|MODIFIER|YDJC|YDJC|transcript|NM_001017964.1|Coding|4/4|c.603-29T>G|||||| 22 21983260 . A G . . ANN=G|intron_variant|MODIFIER|YDJC|YDJC|transcript|NM_001017964.1|Coding|4/4|c.602+39T>C|||||| 22 21983314 . G A . . ANN=A|missense_variant|MODERATE|YDJC|YDJC|transcript|NM_001017964.1|Coding|4/5|c.587C>T|p.Ser196Phe|624/1338|587/972|196/323|| 22 21983457 . G C . . ANN=C|synonymous_variant|LOW|YDJC|YDJC|transcript|NM_001017964.1|Coding|4/5|c.444C>G|p.Ala148Ala|481/1338|444/972|148/323|| 22 21983693 . G C . . ANN=C|missense_variant|MODERATE|YDJC|YDJC|transcript|NM_001017964.1|Coding|3/5|c.328C>G|p.Arg110Gly|365/1338|328/972|110/323|| 22 21983853 . G A . . ANN=A|intron_variant|MODIFIER|YDJC|YDJC|transcript|NM_001017964.1|Coding|2/4|c.324+38C>T|||||| 22 21984205 . A G . . ANN=G|synonymous_variant|LOW|YDJC|YDJC|transcript|NM_001017964.1|Coding|1/5|c.99T>C|p.Ala33Ala|136/1338|99/972|33/323|| 22 21984211 . G A . . ANN=A|synonymous_variant|LOW|YDJC|YDJC|transcript|NM_001017964.1|Coding|1/5|c.93C>T|p.Ala31Ala|130/1338|93/972|31/323|| 22 21984246 . G C . . ANN=C|missense_variant|MODERATE|YDJC|YDJC|transcript|NM_001017964.1|Coding|1/5|c.58C>G|p.Arg20Gly|95/1338|58/972|20/323|| 22 21984313 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|YDJC|YDJC|transcript|NM_001017964.1|Coding|1/5|c.-10C>G|||||10| 22 21987562 . C T . . ANN=T|intron_variant|MODIFIER|CCDC116|CCDC116|transcript|NM_152612.2|Coding|2/4|c.72+20C>T|||||| 22 21988280 . C T . . ANN=T|intron_variant|MODIFIER|CCDC116|CCDC116|transcript|NM_152612.2|Coding|2/4|c.73-31C>T|||||| 22 21988295 . A G . . ANN=G|intron_variant|MODIFIER|CCDC116|CCDC116|transcript|NM_152612.2|Coding|2/4|c.73-16A>G|||||| 22 21988303 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|2/4|c.73-8C>T|||||| 22 21988422 . C T . . ANN=T|stop_gained|HIGH|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.184C>T|p.Arg62*|277/2192|184/1842|62/613||;LOF=(CCDC116|CCDC116|1|1.00);NMD=(CCDC116|CCDC116|1|1.00) 22 21988423 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.185G>A|p.Arg62Gln|278/2192|185/1842|62/613|| 22 21988524 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.286C>T|p.Arg96Cys|379/2192|286/1842|96/613|| 22 21988563 . G T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.325G>T|p.Val109Leu|418/2192|325/1842|109/613|| 22 21988578 . C A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.340C>A|p.Pro114Thr|433/2192|340/1842|114/613|| 22 21988599 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.361G>A|p.Gly121Arg|454/2192|361/1842|121/613|| 22 21988602 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.364C>T|p.Arg122Trp|457/2192|364/1842|122/613|| 22 21988641 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.403C>T|p.Arg135Trp|496/2192|403/1842|135/613|| 22 21988648 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.410G>A|p.Arg137His|503/2192|410/1842|137/613|| 22 21988654 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.416G>A|p.Arg139Gln|509/2192|416/1842|139/613|| 22 21988738 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.500G>A|p.Gly167Asp|593/2192|500/1842|167/613|| 22 21988758 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.520C>T|p.Arg174Trp|613/2192|520/1842|174/613|| 22 21988760 . G A . . ANN=A|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.522G>A|p.Arg174Arg|615/2192|522/1842|174/613|| 22 21988774 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.536G>A|p.Gly179Asp|629/2192|536/1842|179/613|| 22 21988833 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.595C>T|p.Arg199Trp|688/2192|595/1842|199/613|| 22 21988834 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.596G>A|p.Arg199Gln|689/2192|596/1842|199/613|| 22 21988854 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.616G>A|p.Glu206Lys|709/2192|616/1842|206/613|| 22 21988858 . G T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/5|c.620G>T|p.Gly207Val|713/2192|620/1842|207/613|| 22 21988865 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|3/4|c.621+6A>G|||||| 22 21989008 . C G . . ANN=G|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.656C>G|p.Ser219Cys|749/2192|656/1842|219/613|| 22 21989092 . G T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.740G>T|p.Gly247Val|833/2192|740/1842|247/613|| 22 21989106 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.754G>A|p.Val252Met|847/2192|754/1842|252/613|| 22 21989142 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.790G>A|p.Glu264Lys|883/2192|790/1842|264/613|| 22 21989154 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.802C>T|p.Arg268Cys|895/2192|802/1842|268/613|| 22 21989179 . T A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.827T>A|p.Ile276Asn|920/2192|827/1842|276/613|| 22 21989194 . G C . . ANN=C|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.842G>C|p.Ser281Thr|935/2192|842/1842|281/613|| 22 21989230 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.878C>T|p.Pro293Leu|971/2192|878/1842|293/613|| 22 21989236 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.884G>A|p.Arg295His|977/2192|884/1842|295/613|| 22 21989241 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.889C>T|p.Pro297Ser|982/2192|889/1842|297/613|| 22 21989248 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.896G>A|p.Arg299His|989/2192|896/1842|299/613|| 22 21989258 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.906C>T|p.Asn302Asn|999/2192|906/1842|302/613|| 22 21989289 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.937C>T|p.Leu313Leu|1030/2192|937/1842|313/613|| 22 21989325 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.973C>T|p.Arg325Cys|1066/2192|973/1842|325/613|| 22 21989346 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.994G>A|p.Gly332Ser|1087/2192|994/1842|332/613|| 22 21989397 . C G . . ANN=G|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.1045C>G|p.Leu349Val|1138/2192|1045/1842|349/613|| 22 21989451 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.1099C>T|p.Arg367Cys|1192/2192|1099/1842|367/613|| 22 21989467 . G C . . ANN=C|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.1115G>C|p.Ser372Thr|1208/2192|1115/1842|372/613|| 22 21989490 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.1138C>T|p.Arg380Cys|1231/2192|1138/1842|380/613|| 22 21989491 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.1139G>A|p.Arg380His|1232/2192|1139/1842|380/613|| 22 21989501 . A G . . ANN=G|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/5|c.1149A>G|p.Arg383Arg|1242/2192|1149/1842|383/613|| 22 21990671 . G C . . ANN=C|intron_variant|MODIFIER|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/4|c.1204-50G>C|||||| 22 21990707 . C T . . ANN=T|intron_variant|MODIFIER|CCDC116|CCDC116|transcript|NM_152612.2|Coding|4/4|c.1204-14C>T|||||| 22 21990752 . A G . . ANN=G|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1235A>G|p.Lys412Arg|1328/2192|1235/1842|412/613|| 22 21990777 . G A . . ANN=A|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1260G>A|p.Ser420Ser|1353/2192|1260/1842|420/613|| 22 21990822 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1305C>T|p.Leu435Leu|1398/2192|1305/1842|435/613|| 22 21990823 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1306G>A|p.Ala436Thr|1399/2192|1306/1842|436/613|| 22 21990849 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1332C>T|p.Ala444Ala|1425/2192|1332/1842|444/613|| 22 21990877 . G T . . ANN=T|stop_gained|HIGH|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1360G>T|p.Glu454*|1453/2192|1360/1842|454/613|| 22 21990914 . T G . . ANN=G|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1397T>G|p.Phe466Cys|1490/2192|1397/1842|466/613|| 22 21991072 . T C . . ANN=C|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1555T>C|p.Cys519Arg|1648/2192|1555/1842|519/613|| 22 21991120 . G A . . ANN=A|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1603G>A|p.Ala535Thr|1696/2192|1603/1842|535/613|| 22 21991147 . C T . . ANN=T|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1630C>T|p.Arg544Cys|1723/2192|1630/1842|544/613|| 22 21991218 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1701C>T|p.Ala567Ala|1794/2192|1701/1842|567/613|| 22 21991224 . C T . . ANN=T|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1707C>T|p.Thr569Thr|1800/2192|1707/1842|569/613|| 22 21991307 . A G . . ANN=G|missense_variant|MODERATE|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1790A>G|p.Asp597Gly|1883/2192|1790/1842|597/613|| 22 21991350 . T C . . ANN=C|synonymous_variant|LOW|CCDC116|CCDC116|transcript|NM_152612.2|Coding|5/5|c.1833T>C|p.Asp611Asp|1926/2192|1833/1842|611/613|| 22 21996599 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|1/3|c.-27C>T|||||27| 22 21996653 . G C . . ANN=C|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|1/3|c.28G>C|p.Ala10Pro|112/874|28/666|10/221|| 22 21996722 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|1/3|c.97G>A|p.Ala33Thr|181/874|97/666|33/221|| 22 21996847 . A G . . ANN=G|intron_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|1/2|c.187+35A>G|||||| 22 21997104 . T G . . ANN=G|intron_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|1/2|c.188-47T>G|||||| 22 21997128 . G A . . ANN=A|intron_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|1/2|c.188-23G>A|||||| 22 21997156 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|2/3|c.193G>A|p.Gly65Ser|277/874|193/666|65/221|| 22 21997251 . C G . . ANN=G|synonymous_variant|LOW|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|2/3|c.288C>G|p.Ser96Ser|372/874|288/666|96/221|| 22 21997326 . G A . . ANN=A|synonymous_variant|LOW|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|2/3|c.363G>A|p.Pro121Pro|447/874|363/666|121/221|| 22 21997385 . C T . . ANN=T|intron_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|2/2|c.384+38C>T|||||| 22 21998169 . C G . . ANN=G|intron_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|2/2|c.385-14C>G|||||| 22 21998215 . C T . . ANN=T|synonymous_variant|LOW|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.417C>T|p.Gly139Gly|501/874|417/666|139/221|| 22 21998218 . C T . . ANN=T|synonymous_variant|LOW|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.420C>T|p.Asp140Asp|504/874|420/666|140/221|| 22 21998219 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.421G>A|p.Asp141Asn|505/874|421/666|141/221|| 22 21998222 . C G . . ANN=G|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.424C>G|p.Leu142Val|508/874|424/666|142/221|| 22 21998280 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.482G>A|p.Arg161His|566/874|482/666|161/221|| 22 21998310 . T C . . ANN=C|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.512T>C|p.Leu171Pro|596/874|512/666|171/221|| 22 21998346 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.548G>A|p.Arg183His|632/874|548/666|183/221|| 22 21998448 . G A . . ANN=A|missense_variant|MODERATE|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.650G>A|p.Gly217Asp|734/874|650/666|217/221|| 22 21998465 . GTGTGTGGATGGA G . . ANN=|3_prime_UTR_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.*4_*15delTGTGGATGGATG|||||4|INFO_REALIGN_3_PRIME 22 21998469 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.*5G>A|||||5| 22 21998472 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.*8G>T|||||8| 22 21998509 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SDF2L1|SDF2L1|transcript|NM_022044.2|Coding|3/3|c.*45T>C|||||45| 22 22020347 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|1/21|c.-42C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|1/20|c.-42C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|1/21|c.-42C>T||||||,T|5_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|1/21|c.-42C>T|||||42|,T|5_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|1/20|c.-42C>T|||||42|,T|5_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|1/21|c.-42C>T|||||42| 22 22024156 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|1/20|c.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|1/19|c.33-46C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|1/20|c.33-46C>T|||||| 22 22024279 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|2/20|c.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|2/19|c.82+28G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|2/20|c.82+28G>A|||||| 22 22024281 . T C . . ANN=C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|2/20|c.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|2/19|c.82+30T>C||||||,C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|2/20|c.82+30T>C|||||| 22 22024820 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|2/20|c.83-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|2/19|c.83-35G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|2/20|c.83-35G>A|||||| 22 22024868 . A G . . ANN=G|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|3/21|c.96A>G|p.Thr32Thr|212/2710|96/1584|32/527||,G|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|3/20|c.96A>G|p.Thr32Thr|212/4102|96/1563|32/520||,G|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|3/21|c.96A>G|p.Thr32Thr|212/2852|96/1563|32/520|| 22 22024887 . T C . . ANN=C|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|3/21|c.115T>C|p.Phe39Leu|231/2710|115/1584|39/527||,C|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|3/20|c.115T>C|p.Phe39Leu|231/4102|115/1563|39/520||,C|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|3/21|c.115T>C|p.Phe39Leu|231/2852|115/1563|39/520|| 22 22024920 . A ACCTTTC . . ANN=ACCTTTC|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|3/20|c.128+20_128+21insCCTTTC||||||,ACCTTTC|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|3/19|c.128+20_128+21insCCTTTC||||||,ACCTTTC|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|3/20|c.128+20_128+21insCCTTTC|||||| 22 22025334 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|4/21|c.177C>T|p.Ile59Ile|293/2710|177/1584|59/527||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|4/20|c.177C>T|p.Ile59Ile|293/4102|177/1563|59/520||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|4/21|c.177C>T|p.Ile59Ile|293/2852|177/1563|59/520|| 22 22026654 . A G . . ANN=G|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|5/21|c.227A>G|p.Asn76Ser|343/2710|227/1584|76/527||,G|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|5/20|c.227A>G|p.Asn76Ser|343/4102|227/1563|76/520||,G|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|5/21|c.227A>G|p.Asn76Ser|343/2852|227/1563|76/520|| 22 22026704 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|5/20|c.243+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|5/19|c.243+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|5/20|c.243+34G>A|||||| 22 22029451 . A G . . ANN=G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|6/20|c.295+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|6/19|c.295+47A>G||||||,G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|6/20|c.295+47A>G|||||| 22 22035555 . T C . . ANN=C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|6/20|c.296-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|6/19|c.296-33T>C||||||,C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|6/20|c.296-33T>C|||||| 22 22035664 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|7/21|c.372C>T|p.Asn124Asn|488/2710|372/1584|124/527||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|7/20|c.372C>T|p.Asn124Asn|488/4102|372/1563|124/520||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|7/21|c.372C>T|p.Asn124Asn|488/2852|372/1563|124/520|| 22 22035685 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|7/20|c.387+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|7/19|c.387+6T>C||||||,C|splice_region_variant&intron_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|7/20|c.387+6T>C|||||| 22 22035694 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|7/20|c.387+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|7/19|c.387+15C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|7/20|c.387+15C>T|||||| 22 22036763 . G A . . ANN=A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|8/21|c.425G>A|p.Arg142Gln|541/2710|425/1584|142/527||,A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|8/20|c.425G>A|p.Arg142Gln|541/4102|425/1563|142/520||,A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|8/21|c.425G>A|p.Arg142Gln|541/2852|425/1563|142/520|| 22 22036768 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|8/21|c.430C>T|p.Leu144Leu|546/2710|430/1584|144/527||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|8/20|c.430C>T|p.Leu144Leu|546/4102|430/1563|144/520||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|8/21|c.430C>T|p.Leu144Leu|546/2852|430/1563|144/520|| 22 22036780 . G A . . ANN=A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|8/21|c.442G>A|p.Glu148Lys|558/2710|442/1584|148/527||,A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|8/20|c.442G>A|p.Glu148Lys|558/4102|442/1563|148/520||,A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|8/21|c.442G>A|p.Glu148Lys|558/2852|442/1563|148/520|| 22 22036792 . C A . . ANN=A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|8/21|c.454C>A|p.Arg152Arg|570/2710|454/1584|152/527||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|8/20|c.454C>A|p.Arg152Arg|570/4102|454/1563|152/520||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|8/21|c.454C>A|p.Arg152Arg|570/2852|454/1563|152/520|| 22 22036812 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|8/21|c.474C>T|p.Leu158Leu|590/2710|474/1584|158/527||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|8/20|c.474C>T|p.Leu158Leu|590/4102|474/1563|158/520||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|8/21|c.474C>T|p.Leu158Leu|590/2852|474/1563|158/520|| 22 22036832 . T C . . ANN=C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|8/20|c.477+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|8/19|c.477+17T>C||||||,C|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|8/20|c.477+17T>C|||||| 22 22037427 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|8/20|c.478-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|8/19|c.478-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|8/20|c.478-44C>T|||||| 22 22037524 . T C . . ANN=C|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|9/21|c.531T>C|p.Asn177Asn|647/2710|531/1584|177/527||,C|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|9/20|c.531T>C|p.Asn177Asn|647/4102|531/1563|177/520||,C|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|9/21|c.531T>C|p.Asn177Asn|647/2852|531/1563|177/520|| 22 22037575 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|9/20|c.553+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|9/19|c.553+29G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|9/20|c.553+29G>A|||||| 22 22037580 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|9/20|c.553+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|9/19|c.553+34G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|9/20|c.553+34G>A|||||| 22 22039199 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|10/21|c.711C>T|p.Asn237Asn|827/2710|711/1584|237/527||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|10/20|c.711C>T|p.Asn237Asn|827/4102|711/1563|237/520||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|10/21|c.711C>T|p.Asn237Asn|827/2852|711/1563|237/520|| 22 22039211 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|10/20|c.714+9C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|10/19|c.714+9C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|10/20|c.714+9C>T|||||| 22 22039212 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|10/20|c.714+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|10/19|c.714+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|10/20|c.714+10G>A|||||| 22 22039219 . A T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|10/20|c.714+17A>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|10/19|c.714+17A>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|10/20|c.714+17A>T|||||| 22 22039222 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|10/20|c.714+20C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|10/19|c.714+20C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|10/20|c.714+20C>T|||||| 22 22040750 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|10/20|c.715-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|10/19|c.715-22G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|10/20|c.715-22G>A|||||| 22 22040792 . G A . . ANN=A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|11/21|c.735G>A|p.Lys245Lys|851/2710|735/1584|245/527||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|11/20|c.735G>A|p.Lys245Lys|851/4102|735/1563|245/520||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|11/21|c.735G>A|p.Lys245Lys|851/2852|735/1563|245/520|| 22 22040828 . G A . . ANN=A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|11/21|c.771G>A|p.Pro257Pro|887/2710|771/1584|257/527||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|11/20|c.771G>A|p.Pro257Pro|887/4102|771/1563|257/520||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|11/21|c.771G>A|p.Pro257Pro|887/2852|771/1563|257/520|| 22 22040836 . C T . . ANN=T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|11/21|c.779C>T|p.Thr260Ile|895/2710|779/1584|260/527||,T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|11/20|c.779C>T|p.Thr260Ile|895/4102|779/1563|260/520||,T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|11/21|c.779C>T|p.Thr260Ile|895/2852|779/1563|260/520|| 22 22040884 . A T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|11/20|c.790+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|11/19|c.790+37A>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|11/20|c.790+37A>T|||||| 22 22041179 . A C . . ANN=C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|PPIL2|transcript|NM_148176.2|Coding|11/20|c.791-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|PPIL2|transcript|NM_014337.3|Coding|11/19|c.791-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|PPIL2|PPIL2|transcript|NM_148175.2|Coding|11/20|c.791-2A>C||||||;LOF=(PPIL2|PPIL2|3|1.00) 22 22041275 . G A . . ANN=A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|12/21|c.885G>A|p.Leu295Leu|1001/2710|885/1584|295/527||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|12/20|c.885G>A|p.Leu295Leu|1001/4102|885/1563|295/520||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|12/21|c.885G>A|p.Leu295Leu|1001/2852|885/1563|295/520|| 22 22041882 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|12/20|c.898-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|12/19|c.898-50C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|12/20|c.898-50C>T|||||| 22 22041889 . T TG . . ANN=TG|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|12/20|c.898-43_898-42insG||||||,TG|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|12/19|c.898-43_898-42insG||||||,TG|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|12/20|c.898-43_898-42insG|||||| 22 22041982 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|13/21|c.948C>T|p.Tyr316Tyr|1064/2710|948/1584|316/527||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|13/20|c.948C>T|p.Tyr316Tyr|1064/4102|948/1563|316/520||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|13/21|c.948C>T|p.Tyr316Tyr|1064/2852|948/1563|316/520|| 22 22042031 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|13/20|c.987+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|13/19|c.987+10G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|13/20|c.987+10G>A|||||| 22 22042070 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|13/20|c.987+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|13/19|c.987+49G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|13/20|c.987+49G>A|||||| 22 22042318 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|13/20|c.988-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|13/19|c.988-44C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|13/20|c.988-44C>T|||||| 22 22042319 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|13/20|c.988-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|13/19|c.988-43G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|13/20|c.988-43G>A|||||| 22 22042377 . C A . . ANN=A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|14/21|c.1003C>A|p.Pro335Thr|1119/2710|1003/1584|335/527||,A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|14/20|c.1003C>A|p.Pro335Thr|1119/4102|1003/1563|335/520||,A|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|14/21|c.1003C>A|p.Pro335Thr|1119/2852|1003/1563|335/520|| 22 22042430 . T G . . ANN=G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|14/20|c.1021+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|14/19|c.1021+35T>G||||||,G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|14/20|c.1021+35T>G|||||| 22 22042440 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|14/20|c.1021+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|14/19|c.1021+45C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|14/20|c.1021+45C>T|||||| 22 22042975 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|14/20|c.1022-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|14/19|c.1022-46G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|14/20|c.1022-46G>A|||||| 22 22042999 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|14/20|c.1022-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|14/19|c.1022-22C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|14/20|c.1022-22C>T|||||| 22 22048114 . G A . . ANN=A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|16/21|c.1149G>A|p.Thr383Thr|1265/2710|1149/1584|383/527||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|16/20|c.1149G>A|p.Thr383Thr|1265/4102|1149/1563|383/520||,A|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|16/21|c.1149G>A|p.Thr383Thr|1265/2852|1149/1563|383/520|| 22 22048856 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|16/20|c.1197-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|16/19|c.1197-26G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|16/20|c.1197-26G>A|||||| 22 22048857 . A G . . ANN=G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|16/20|c.1197-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|16/19|c.1197-25A>G||||||,G|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|16/20|c.1197-25A>G|||||| 22 22048862 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|16/20|c.1197-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|16/19|c.1197-20C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|16/20|c.1197-20C>T|||||| 22 22048870 . TC T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|16/20|c.1197-11delC||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|16/19|c.1197-11delC||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|16/20|c.1197-11delC|||||| 22 22048900 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|17/21|c.1215C>T|p.Asp405Asp|1331/2710|1215/1584|405/527||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|17/20|c.1215C>T|p.Asp405Asp|1331/4102|1215/1563|405/520||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|17/21|c.1215C>T|p.Asp405Asp|1331/2852|1215/1563|405/520|| 22 22048970 . G T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|17/20|c.1269+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|17/19|c.1269+16G>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|17/20|c.1269+16G>T|||||| 22 22049017 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|17/20|c.1270-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|17/19|c.1270-27C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|17/20|c.1270-27C>T|||||| 22 22049076 . C T . . ANN=T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|18/21|c.1302C>T|p.Phe434Phe|1418/2710|1302/1584|434/527||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_014337.3|Coding|18/20|c.1302C>T|p.Phe434Phe|1418/4102|1302/1563|434/520||,T|synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|18/21|c.1302C>T|p.Phe434Phe|1418/2852|1302/1563|434/520|| 22 22049099 . A G . . ANN=G|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|18/21|c.1325A>G|p.Asp442Gly|1441/2710|1325/1584|442/527||,G|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|18/20|c.1325A>G|p.Asp442Gly|1441/4102|1325/1563|442/520||,G|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|18/21|c.1325A>G|p.Asp442Gly|1441/2852|1325/1563|442/520|| 22 22049119 . G A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|18/20|c.1332+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|18/19|c.1332+13G>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|18/20|c.1332+13G>A|||||| 22 22049127 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|18/20|c.1332+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|18/19|c.1332+21C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|18/20|c.1332+21C>T|||||| 22 22049186 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|18/20|c.1333-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|18/19|c.1333-40C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|18/20|c.1333-40C>T|||||| 22 22049230 . C T . . ANN=T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|19/21|c.1337C>T|p.Ala446Val|1453/2710|1337/1584|446/527||,T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|19/20|c.1337C>T|p.Ala446Val|1453/4102|1337/1563|446/520||,T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|19/21|c.1337C>T|p.Ala446Val|1453/2852|1337/1563|446/520|| 22 22049263 . C T . . ANN=T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|19/21|c.1370C>T|p.Pro457Leu|1486/2710|1370/1584|457/527||,T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|19/20|c.1370C>T|p.Pro457Leu|1486/4102|1370/1563|457/520||,T|missense_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|19/21|c.1370C>T|p.Pro457Leu|1486/2852|1370/1563|457/520|| 22 22049359 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148176.2|Coding|19/21|c.1466C>T|p.Thr489Ile|1582/2710|1466/1584|489/527||,T|missense_variant&splice_region_variant|MODERATE|PPIL2|PPIL2|transcript|NM_014337.3|Coding|19/20|c.1466C>T|p.Thr489Met|1582/4102|1466/1563|489/520||,T|missense_variant&splice_region_variant|MODERATE|PPIL2|PPIL2|transcript|NM_148175.2|Coding|19/21|c.1466C>T|p.Thr489Met|1582/2852|1466/1563|489/520|| 22 22049369 . G T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|19/20|c.1466+10G>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|19/19|c.1466+10G>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|19/20|c.1466+10G>T|||||| 22 22049397 . T A . . ANN=A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|19/20|c.1466+38T>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|19/19|c.1466+38T>A||||||,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|19/20|c.1466+38T>A|||||| 22 22049409 . C T . . ANN=T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|19/20|c.1466+50C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|19/19|c.1466+50C>T||||||,T|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|19/20|c.1466+50C>T|||||| 22 22049783 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|PPIL2|PPIL2|transcript|NM_148176.2|Coding|20/21|c.1563C>T|p.Ser521Ser|1679/2710|1563/1584|521/527||,T|splice_region_variant|LOW|PPIL2|PPIL2|transcript|NM_148175.2|Coding|20/21|c.*4C>T||||||,T|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|20/20|c.*4C>T|||||4|,T|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|20/21|c.*4C>T|||||4| 22 22051133 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|20/20|c.*1354G>A|||||1354|,A|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|21/21|c.*104G>A|||||1354|,A|intron_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|20/20|c.1566-41G>A|||||| 22 22051197 . A ATGTC . . ANN=TCTG|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|21/21|c.*8_*11dupTCTG|||||12|INFO_REALIGN_3_PRIME,TCTG|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|20/20|c.*1421_*1424dupTCTG|||||1425|INFO_REALIGN_3_PRIME,TCTG|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|21/21|c.*171_*174dupTCTG|||||1425|INFO_REALIGN_3_PRIME 22 22051204 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|21/21|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|20/20|c.*1425C>T|||||1425|,T|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|21/21|c.*175C>T|||||1425| 22 22051210 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148176.2|Coding|21/21|c.*18G>A|||||18|,A|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_014337.3|Coding|20/20|c.*1431G>A|||||1431|,A|3_prime_UTR_variant|MODIFIER|PPIL2|PPIL2|transcript|NM_148175.2|Coding|21/21|c.*181G>A|||||1431| 22 22055394 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|YPEL1|YPEL1|transcript|NM_013313.3|Coding|5/5|c.*24T>C|||||24| 22 22055412 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|YPEL1|YPEL1|transcript|NM_013313.3|Coding|5/5|c.*6G>A|||||6| 22 22055413 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|YPEL1|YPEL1|transcript|NM_013313.3|Coding|5/5|c.*5C>T|||||5| 22 22055539 . A G . . ANN=G|intron_variant|MODIFIER|YPEL1|YPEL1|transcript|NM_013313.3|Coding|4/4|c.271-32T>C|||||| 22 22057689 . C T . . ANN=T|synonymous_variant|LOW|YPEL1|YPEL1|transcript|NM_013313.3|Coding|4/5|c.240G>A|p.Glu80Glu|572/4284|240/360|80/119|| 22 22057804 . G GCCCGC . . ANN=GCCCGC|intron_variant|MODIFIER|YPEL1|YPEL1|transcript|NM_013313.3|Coding|3/4|c.162-38_162-37insGCGGG|||||| 22 22058098 . G A . . ANN=A|intron_variant|MODIFIER|YPEL1|YPEL1|transcript|NM_013313.3|Coding|3/4|c.161+30C>T|||||| 22 22123573 . A G . . ANN=G|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|8/9|c.1003T>C|p.Leu335Leu|1243/5915|1003/1083|335/360||,G|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|8/8|c.1003T>C|p.Leu335Leu|1243/1497|1003/1083|335/360|| 22 22123601 . G A . . ANN=A|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|8/9|c.975C>T|p.Ala325Ala|1215/5915|975/1083|325/360||,A|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|8/8|c.975C>T|p.Ala325Ala|1215/1497|975/1083|325/360|| 22 22123650 . T C . . ANN=C|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|7/8|c.967-41A>G||||||,C|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|7/7|c.967-41A>G|||||| 22 22127165 . G A . . ANN=A|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|7/9|c.963C>T|p.Asp321Asp|1203/5915|963/1083|321/360||,A|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|7/8|c.963C>T|p.Asp321Asp|1203/1497|963/1083|321/360|| 22 22127311 . A C . . ANN=C|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|6/8|c.857-40T>G||||||,C|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|6/7|c.857-40T>G|||||| 22 22127317 . A G . . ANN=G|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|6/8|c.857-46T>C||||||,G|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|6/7|c.857-46T>C|||||| 22 22142501 . C T . . ANN=T|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|6/8|c.856+45G>A||||||,T|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|6/7|c.856+45G>A|||||| 22 22142664 . G C . . ANN=C|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|6/9|c.738C>G|p.Ser246Ser|978/5915|738/1083|246/360||,C|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|6/8|c.738C>G|p.Ser246Ser|978/1497|738/1083|246/360|| 22 22142954 . C T . . ANN=T|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|5/8|c.724+29G>A||||||,T|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|5/7|c.724+29G>A|||||| 22 22143123 . G A . . ANN=A|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|4/8|c.610-26C>T||||||,A|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|4/7|c.610-26C>T|||||| 22 22153439 . A G . . ANN=G|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|3/8|c.493-22T>C||||||,G|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|3/7|c.493-22T>C|||||| 22 22153447 . T C . . ANN=C|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|3/8|c.493-30A>G||||||,C|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|3/7|c.493-30A>G|||||| 22 22160095 . G A . . ANN=A|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_002745.4|Coding|3/8|c.492+44C>T||||||,A|intron_variant|MODIFIER|MAPK1|MAPK1|transcript|NM_138957.3|Coding|3/7|c.492+44C>T|||||| 22 22160151 . G A . . ANN=A|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|3/9|c.480C>T|p.Thr160Thr|720/5915|480/1083|160/360||,A|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|3/8|c.480C>T|p.Thr160Thr|720/1497|480/1083|160/360|| 22 22160214 . A G . . ANN=G|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|3/9|c.417T>C|p.Tyr139Tyr|657/5915|417/1083|139/360||,G|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|3/8|c.417T>C|p.Tyr139Tyr|657/1497|417/1083|139/360|| 22 22160301 . T C . . ANN=C|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|3/9|c.330A>G|p.Thr110Thr|570/5915|330/1083|110/360||,C|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|3/8|c.330A>G|p.Thr110Thr|570/1497|330/1083|110/360|| 22 22161974 . G A . . ANN=A|missense_variant|MODERATE|MAPK1|MAPK1|transcript|NM_002745.4|Coding|2/9|c.281C>T|p.Thr94Ile|521/5915|281/1083|94/360||,A|missense_variant|MODERATE|MAPK1|MAPK1|transcript|NM_138957.3|Coding|2/8|c.281C>T|p.Thr94Ile|521/1497|281/1083|94/360|| 22 22162126 . A G . . ANN=G|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|2/9|c.129T>C|p.Tyr43Tyr|369/5915|129/1083|43/360||,G|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|2/8|c.129T>C|p.Tyr43Tyr|369/1497|129/1083|43/360|| 22 22221623 . G A . . ANN=A|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|1/9|c.108C>T|p.Tyr36Tyr|348/5915|108/1083|36/360||,A|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|1/8|c.108C>T|p.Tyr36Tyr|348/1497|108/1083|36/360|| 22 22221680 . C T . . ANN=T|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_002745.4|Coding|1/9|c.51G>A|p.Gln17Gln|291/5915|51/1083|17/360||,T|synonymous_variant|LOW|MAPK1|MAPK1|transcript|NM_138957.3|Coding|1/8|c.51G>A|p.Gln17Gln|291/1497|51/1083|17/360|| 22 22277485 . G C . . ANN=C|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1345C>G|p.Gln449Glu|1492/5185|1345/1365|449/454|| 22 22277521 . G A . . ANN=A|stop_gained|HIGH|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1309C>T|p.Gln437*|1456/5185|1309/1365|437/454|| 22 22277571 . A C . . ANN=C|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1259T>G|p.Leu420Arg|1406/5185|1259/1365|420/454|| 22 22277631 . C T . . ANN=T|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1199G>A|p.Arg400Gln|1346/5185|1199/1365|400/454|| 22 22277667 . C T . . ANN=T|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1163G>A|p.Arg388His|1310/5185|1163/1365|388/454|| 22 22277675 . G A . . ANN=A|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1155C>T|p.Ser385Ser|1302/5185|1155/1365|385/454|| 22 22277784 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1046C>T|p.Thr349Met|1193/5185|1046/1365|349/454|| 22 22277793 . C T . . ANN=T|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1037G>A|p.Arg346Gln|1184/5185|1037/1365|346/454|| 22 22277794 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1036C>T|p.Arg346Trp|1183/5185|1036/1365|346/454|| 22 22277813 . C G . . ANN=G|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|8/8|c.1017G>C|p.Gly339Gly|1164/5185|1017/1365|339/454|| 22 22277855 . G A . . ANN=A|intron_variant|MODIFIER|PPM1F|PPM1F|transcript|NM_014634.3|Coding|7/7|c.986-11C>T|||||| 22 22279929 . C T . . ANN=T|intron_variant|MODIFIER|PPM1F|PPM1F|transcript|NM_014634.3|Coding|7/7|c.985+13G>A|||||| 22 22279958 . G T . . ANN=T|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|7/8|c.969C>A|p.Ala323Ala|1116/5185|969/1365|323/454|| 22 22279964 . G C . . ANN=C|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|7/8|c.963C>G|p.Thr321Thr|1110/5185|963/1365|321/454|| 22 22280051 . C T . . ANN=T|intron_variant|MODIFIER|PPM1F|PPM1F|transcript|NM_014634.3|Coding|6/7|c.892-16G>A|||||| 22 22285480 . G A . . ANN=A|intron_variant|MODIFIER|PPM1F|PPM1F|transcript|NM_014634.3|Coding|6/7|c.891+40C>T|||||| 22 22285616 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|6/8|c.795G>A|p.Ala265Ala|942/5185|795/1365|265/454|| 22 22285632 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|6/8|c.779C>T|p.Ala260Val|926/5185|779/1365|260/454|| 22 22287862 . G A . . ANN=A|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|5/8|c.648C>T|p.Asn216Asn|795/5185|648/1365|216/454|| 22 22287964 . T C . . ANN=C|intron_variant|MODIFIER|PPM1F|PPM1F|transcript|NM_014634.3|Coding|4/7|c.559-13A>G|||||| 22 22287988 . A T . . ANN=T|intron_variant|MODIFIER|PPM1F|PPM1F|transcript|NM_014634.3|Coding|4/7|c.559-37T>A|||||| 22 22288383 . C T . . ANN=T|intron_variant|MODIFIER|PPM1F|PPM1F|transcript|NM_014634.3|Coding|4/7|c.558+13G>A|||||| 22 22288399 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|4/8|c.555G>A|p.Leu185Leu|702/5185|555/1365|185/454|| 22 22288560 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|4/8|c.394C>T|p.Arg132Cys|541/5185|394/1365|132/454|| 22 22293920 . TTCC T . . ANN=T|disruptive_inframe_deletion|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|3/8|c.336_338delGGA|p.Glu113del|485/5185|336/1365|112/454|| 22 22293938 . C G . . ANN=G|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|3/8|c.321G>C|p.Glu107Asp|468/5185|321/1365|107/454|| 22 22293944 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|3/8|c.315G>A|p.Glu105Glu|462/5185|315/1365|105/454|| 22 22293959 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|3/8|c.300G>A|p.Arg100Arg|447/5185|300/1365|100/454|| 22 22300211 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|2/7|c.206+4G>T|||||| 22 22300253 . G A . . ANN=A|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|2/8|c.168C>T|p.Gly56Gly|315/5185|168/1365|56/454|| 22 22300280 . C T . . ANN=T|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|2/8|c.141G>A|p.Thr47Thr|288/5185|141/1365|47/454|| 22 22300281 . G A . . ANN=A|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|2/8|c.140C>T|p.Thr47Met|287/5185|140/1365|47/454|| 22 22300364 . G T . . ANN=T|synonymous_variant|LOW|PPM1F|PPM1F|transcript|NM_014634.3|Coding|2/8|c.57C>A|p.Thr19Thr|204/5185|57/1365|19/454|| 22 22300380 . C G . . ANN=G|missense_variant|MODERATE|PPM1F|PPM1F|transcript|NM_014634.3|Coding|2/8|c.41G>C|p.Ser14Thr|188/5185|41/1365|14/454|| 22 22300436 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|PPM1F|PPM1F|transcript|NM_014634.3|Coding|2/8|c.-16C>A|||||16| 22 22313053 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|17/18|c.1918C>T|p.Arg640Cys|2130/2890|1918/2589|640/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|17/18|c.1918C>T|p.Arg640Cys|2123/2883|1918/2589|640/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|17/18|c.1918C>T|p.Arg640Cys|2446/3206|1918/2589|640/862|| 22 22313069 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|16/17|c.1906-4G>A||||||,T|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|16/17|c.1906-4G>A||||||,T|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|16/17|c.1906-4G>A|||||| 22 22313488 . T C . . ANN=C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|16/17|c.1905+16A>G||||||,C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|16/17|c.1905+16A>G||||||,C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|16/17|c.1905+16A>G|||||| 22 22313591 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|16/18|c.1818G>A|p.Leu606Leu|2030/2890|1818/2589|606/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|16/18|c.1818G>A|p.Leu606Leu|2023/2883|1818/2589|606/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|16/18|c.1818G>A|p.Leu606Leu|2346/3206|1818/2589|606/862|| 22 22313598 . T C . . ANN=C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|16/18|c.1811A>G|p.Asp604Gly|2023/2890|1811/2589|604/862||,C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|16/18|c.1811A>G|p.Asp604Gly|2016/2883|1811/2589|604/862||,C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|16/18|c.1811A>G|p.Asp604Gly|2339/3206|1811/2589|604/862|| 22 22314027 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|15/18|c.1736G>A|p.Arg579His|1948/2890|1736/2589|579/862||,T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|15/18|c.1736G>A|p.Arg579His|1941/2883|1736/2589|579/862||,T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|15/18|c.1736G>A|p.Arg579His|2264/3206|1736/2589|579/862|| 22 22314114 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|14/17|c.1655-6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|14/17|c.1655-6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|14/17|c.1655-6T>C|||||| 22 22314659 . C T . . ANN=T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|14/17|c.1654+34G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|14/17|c.1654+34G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|14/17|c.1654+34G>A|||||| 22 22314754 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|14/18|c.1593C>T|p.Ser531Ser|1805/2890|1593/2589|531/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|14/18|c.1593C>T|p.Ser531Ser|1798/2883|1593/2589|531/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|14/18|c.1593C>T|p.Ser531Ser|2121/3206|1593/2589|531/862|| 22 22314817 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|14/18|c.1530G>A|p.Thr510Thr|1742/2890|1530/2589|510/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|14/18|c.1530G>A|p.Thr510Thr|1735/2883|1530/2589|510/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|14/18|c.1530G>A|p.Thr510Thr|2058/3206|1530/2589|510/862|| 22 22314828 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|13/17|c.1526-7A>G||||||,C|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|13/17|c.1526-7A>G||||||,C|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|13/17|c.1526-7A>G|||||| 22 22314844 . G C . . ANN=C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|13/17|c.1526-23C>G||||||,C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|13/17|c.1526-23C>G||||||,C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|13/17|c.1526-23C>G|||||| 22 22314853 . CTGCCTTGGACA C . . ANN=C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|13/17|c.1526-43_1526-33delTGTCCAAGGCA||||||,C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|13/17|c.1526-43_1526-33delTGTCCAAGGCA||||||,C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|13/17|c.1526-43_1526-33delTGTCCAAGGCA|||||| 22 22314868 . C T . . ANN=T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|13/17|c.1526-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|13/17|c.1526-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|13/17|c.1526-47G>A|||||| 22 22316765 . C T . . ANN=T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|13/17|c.1525+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|13/17|c.1525+36G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|13/17|c.1525+36G>A|||||| 22 22316792 . C T . . ANN=T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|13/17|c.1525+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|13/17|c.1525+9G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|13/17|c.1525+9G>A|||||| 22 22316862 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|13/18|c.1464G>A|p.Thr488Thr|1676/2890|1464/2589|488/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|13/18|c.1464G>A|p.Thr488Thr|1669/2883|1464/2589|488/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|13/18|c.1464G>A|p.Thr488Thr|1992/3206|1464/2589|488/862|| 22 22316863 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|13/18|c.1463C>T|p.Thr488Met|1675/2890|1463/2589|488/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|13/18|c.1463C>T|p.Thr488Met|1668/2883|1463/2589|488/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|13/18|c.1463C>T|p.Thr488Met|1991/3206|1463/2589|488/862|| 22 22316989 . G A . . ANN=A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|12/17|c.1352-15C>T||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|12/17|c.1352-15C>T||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|12/17|c.1352-15C>T|||||| 22 22317008 . A G . . ANN=G|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|12/17|c.1352-34T>C||||||,G|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|12/17|c.1352-34T>C||||||,G|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|12/17|c.1352-34T>C|||||| 22 22317132 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|12/18|c.1338C>T|p.Thr446Thr|1550/2890|1338/2589|446/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|12/18|c.1338C>T|p.Thr446Thr|1543/2883|1338/2589|446/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|12/18|c.1338C>T|p.Thr446Thr|1866/3206|1338/2589|446/862|| 22 22317154 . A G . . ANN=G|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|12/18|c.1316T>C|p.Leu439Pro|1528/2890|1316/2589|439/862||,G|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|12/18|c.1316T>C|p.Leu439Pro|1521/2883|1316/2589|439/862||,G|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|12/18|c.1316T>C|p.Leu439Pro|1844/3206|1316/2589|439/862|| 22 22317165 . A C . . ANN=C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|12/18|c.1305T>G|p.Ile435Met|1517/2890|1305/2589|435/862||,C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|12/18|c.1305T>G|p.Ile435Met|1510/2883|1305/2589|435/862||,C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|12/18|c.1305T>G|p.Ile435Met|1833/3206|1305/2589|435/862|| 22 22317189 . C A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|12/18|c.1281G>T|p.Leu427Leu|1493/2890|1281/2589|427/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|12/18|c.1281G>T|p.Leu427Leu|1486/2883|1281/2589|427/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|12/18|c.1281G>T|p.Leu427Leu|1809/3206|1281/2589|427/862|| 22 22317256 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|12/18|c.1214C>T|p.Ala405Val|1426/2890|1214/2589|405/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|12/18|c.1214C>T|p.Ala405Val|1419/2883|1214/2589|405/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|12/18|c.1214C>T|p.Ala405Val|1742/3206|1214/2589|405/862|| 22 22318278 . T C . . ANN=C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|11/17|c.1204+17A>G||||||,C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|11/17|c.1204+17A>G||||||,C|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|11/17|c.1204+17A>G|||||| 22 22318346 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|11/18|c.1153G>A|p.Gly385Ser|1365/2890|1153/2589|385/862||,T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|11/18|c.1153G>A|p.Gly385Ser|1358/2883|1153/2589|385/862||,T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|11/18|c.1153G>A|p.Gly385Ser|1681/3206|1153/2589|385/862|| 22 22318354 . T C . . ANN=C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|11/18|c.1145A>G|p.His382Arg|1357/2890|1145/2589|382/862||,C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|11/18|c.1145A>G|p.His382Arg|1350/2883|1145/2589|382/862||,C|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|11/18|c.1145A>G|p.His382Arg|1673/3206|1145/2589|382/862|| 22 22318364 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|11/18|c.1135C>T|p.Arg379Trp|1347/2890|1135/2589|379/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|11/18|c.1135C>T|p.Arg379Trp|1340/2883|1135/2589|379/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|11/18|c.1135C>T|p.Arg379Trp|1663/3206|1135/2589|379/862|| 22 22318520 . C T . . ANN=T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|10/17|c.1098+13G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|10/17|c.1098+13G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|10/17|c.1098+13G>A|||||| 22 22318538 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|10/18|c.1093G>A|p.Asp365Asn|1305/2890|1093/2589|365/862||,T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|10/18|c.1093G>A|p.Asp365Asn|1298/2883|1093/2589|365/862||,T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|10/18|c.1093G>A|p.Asp365Asn|1621/3206|1093/2589|365/862|| 22 22318568 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|10/18|c.1063C>T|p.Arg355Trp|1275/2890|1063/2589|355/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|10/18|c.1063C>T|p.Arg355Trp|1268/2883|1063/2589|355/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|10/18|c.1063C>T|p.Arg355Trp|1591/3206|1063/2589|355/862|| 22 22318617 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|10/18|c.1014G>A|p.Arg338Arg|1226/2890|1014/2589|338/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|10/18|c.1014G>A|p.Arg338Arg|1219/2883|1014/2589|338/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|10/18|c.1014G>A|p.Arg338Arg|1542/3206|1014/2589|338/862|| 22 22318660 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|10/18|c.971C>T|p.Thr324Met|1183/2890|971/2589|324/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|10/18|c.971C>T|p.Thr324Met|1176/2883|971/2589|324/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|10/18|c.971C>T|p.Thr324Met|1499/3206|971/2589|324/862|| 22 22318671 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|10/18|c.960C>T|p.His320His|1172/2890|960/2589|320/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|10/18|c.960C>T|p.His320His|1165/2883|960/2589|320/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|10/18|c.960C>T|p.His320His|1488/3206|960/2589|320/862|| 22 22319665 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|9/18|c.935C>T|p.Ser312Phe|1147/2890|935/2589|312/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|9/18|c.935C>T|p.Ser312Phe|1140/2883|935/2589|312/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|9/18|c.935C>T|p.Ser312Phe|1463/3206|935/2589|312/862|| 22 22319757 . AG A . . ANN=A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|8/17|c.853-11delC||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|8/17|c.853-11delC||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|8/17|c.853-11delC|||||| 22 22322138 . G A . . ANN=A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|7/17|c.739-50C>T||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|7/17|c.739-50C>T||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|7/17|c.739-50C>T|||||| 22 22322985 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|7/17|c.738+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|7/17|c.738+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|7/17|c.738+6T>C|||||| 22 22323003 . C A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|7/18|c.726G>T|p.Val242Val|938/2890|726/2589|242/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|7/18|c.726G>T|p.Val242Val|931/2883|726/2589|242/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|7/18|c.726G>T|p.Val242Val|1254/3206|726/2589|242/862|| 22 22323019 . G A . . ANN=A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|7/18|c.710C>T|p.Pro237Leu|922/2890|710/2589|237/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|7/18|c.710C>T|p.Pro237Leu|915/2883|710/2589|237/862||,A|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|7/18|c.710C>T|p.Pro237Leu|1238/3206|710/2589|237/862|| 22 22323075 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|7/18|c.654G>A|p.Gln218Gln|866/2890|654/2589|218/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|7/18|c.654G>A|p.Gln218Gln|859/2883|654/2589|218/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|7/18|c.654G>A|p.Gln218Gln|1182/3206|654/2589|218/862|| 22 22323117 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|7/18|c.612C>T|p.Tyr204Tyr|824/2890|612/2589|204/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|7/18|c.612C>T|p.Tyr204Tyr|817/2883|612/2589|204/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|7/18|c.612C>T|p.Tyr204Tyr|1140/3206|612/2589|204/862|| 22 22324542 . A AGTGAGG . . ANN=AGTGAGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|6/17|c.581+39_581+40insCCTCAC||||||,AGTGAGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|6/17|c.581+39_581+40insCCTCAC||||||,AGTGAGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|6/17|c.581+39_581+40insCCTCAC|||||| 22 22324544 . T TGAGGGG . . ANN=TGAGGGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|6/17|c.581+37_581+38insCCCCTC||||||,TGAGGGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|6/17|c.581+37_581+38insCCCCTC||||||,TGAGGGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|6/17|c.581+37_581+38insCCCCTC|||||| 22 22324549 . G A . . ANN=A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|6/17|c.581+33C>T||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|6/17|c.581+33C>T||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|6/17|c.581+33C>T|||||| 22 22324550 . T TGAGGGG . . ANN=TGAGGGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|6/17|c.581+31_581+32insCCCCTC||||||,TGAGGGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|6/17|c.581+31_581+32insCCCCTC||||||,TGAGGGG|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|6/17|c.581+31_581+32insCCCCTC|||||| 22 22324605 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|6/18|c.558G>A|p.Leu186Leu|770/2890|558/2589|186/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|6/18|c.558G>A|p.Leu186Leu|763/2883|558/2589|186/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|6/18|c.558G>A|p.Leu186Leu|1086/3206|558/2589|186/862|| 22 22324698 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|6/18|c.465C>T|p.Ile155Ile|677/2890|465/2589|155/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|6/18|c.465C>T|p.Ile155Ile|670/2883|465/2589|155/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|6/18|c.465C>T|p.Ile155Ile|993/3206|465/2589|155/862|| 22 22324717 . C T . . ANN=T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|6/18|c.446G>A|p.Arg149Gln|658/2890|446/2589|149/862||,T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|6/18|c.446G>A|p.Arg149Gln|651/2883|446/2589|149/862||,T|missense_variant|MODERATE|TOP3B|TOP3B|transcript|NM_003935.4|Coding|6/18|c.446G>A|p.Arg149Gln|974/3206|446/2589|149/862|| 22 22324761 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|6/18|c.402G>A|p.Leu134Leu|614/2890|402/2589|134/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|6/18|c.402G>A|p.Leu134Leu|607/2883|402/2589|134/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|6/18|c.402G>A|p.Leu134Leu|930/3206|402/2589|134/862|| 22 22324825 . C T . . ANN=T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|5/17|c.385-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|5/17|c.385-47G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|5/17|c.385-47G>A|||||| 22 22326241 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|5/17|c.384+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|5/17|c.384+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|5/17|c.384+8T>C|||||| 22 22326279 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|5/18|c.354C>T|p.Cys118Cys|566/2890|354/2589|118/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|5/18|c.354C>T|p.Cys118Cys|559/2883|354/2589|118/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|5/18|c.354C>T|p.Cys118Cys|882/3206|354/2589|118/862|| 22 22326300 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|5/18|c.333C>T|p.Tyr111Tyr|545/2890|333/2589|111/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|5/18|c.333C>T|p.Tyr111Tyr|538/2883|333/2589|111/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|5/18|c.333C>T|p.Tyr111Tyr|861/3206|333/2589|111/862|| 22 22326303 . G A . . ANN=A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|5/18|c.330C>T|p.Asp110Asp|542/2890|330/2589|110/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|5/18|c.330C>T|p.Asp110Asp|535/2883|330/2589|110/862||,A|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|5/18|c.330C>T|p.Asp110Asp|858/3206|330/2589|110/862|| 22 22326326 . GC G . . ANN=G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|4/17|c.310-4delG||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|4/17|c.310-4delG||||||,G|splice_region_variant&intron_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|4/17|c.310-4delG|||||| 22 22327135 . C T . . ANN=T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|3/17|c.203-45G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|3/17|c.203-45G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|3/17|c.203-45G>A|||||| 22 22328829 . C T . . ANN=T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|3/18|c.102G>A|p.Gly34Gly|314/2890|102/2589|34/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|3/18|c.102G>A|p.Gly34Gly|307/2883|102/2589|34/862||,T|synonymous_variant|LOW|TOP3B|TOP3B|transcript|NM_003935.4|Coding|3/18|c.102G>A|p.Gly34Gly|630/3206|102/2589|34/862|| 22 22329983 . C T . . ANN=T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|2/17|c.70+29G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|2/17|c.70+29G>A||||||,T|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|2/17|c.70+29G>A|||||| 22 22330000 . G A . . ANN=A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|2/17|c.70+12C>T||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|2/17|c.70+12C>T||||||,A|intron_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|2/17|c.70+12C>T|||||| 22 22330082 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|2/18|c.-1A>G|||||1|,C|5_prime_UTR_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|2/18|c.-1A>G|||||1|,C|5_prime_UTR_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|2/18|c.-1A>G|||||1| 22 22330107 . T G . . ANN=G|5_prime_UTR_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282112.1|Coding|2/18|c.-26A>C|||||26|,G|5_prime_UTR_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_001282113.1|Coding|2/18|c.-26A>C|||||26|,G|5_prime_UTR_variant|MODIFIER|TOP3B|TOP3B|transcript|NM_003935.4|Coding|2/18|c.-26A>C|||||26| 22 22599189 . C T . . ANN=T|intergenic_region|MODIFIER|TOP3B-VPREB1|TOP3B-VPREB1|intergenic_region|TOP3B-VPREB1||||||||| 22 22599215 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|VPREB1|VPREB1|transcript|NM_007128.2|Coding|1/2|c.-11A>G|||||11| 22 22599216 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|VPREB1|VPREB1|transcript|NM_007128.2|Coding|1/2|c.-10T>C|||||10| 22 22599294 . A C . . ANN=C|intron_variant|MODIFIER|VPREB1|VPREB1|transcript|NM_007128.2|Coding|1/1|c.46+23A>C|||||| 22 22599380 . G A . . ANN=A|synonymous_variant|LOW|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.69G>A|p.Leu23Leu|95/641|69/438|23/145|| 22 22599404 . G A . . ANN=A|synonymous_variant|LOW|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.93G>A|p.Ser31Ser|119/641|93/438|31/145|| 22 22599424 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.113G>A|p.Arg38His|139/641|113/438|38/145|| 22 22599537 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.226G>A|p.Asp76Asn|252/641|226/438|76/145|| 22 22599549 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.238G>A|p.Gly80Ser|264/641|238/438|80/145|| 22 22599666 . G T . . ANN=T|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.355G>T|p.Ala119Ser|381/641|355/438|119/145|| 22 22599669 . C T . . ANN=T|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.358C>T|p.Arg120Cys|384/641|358/438|120/145|| 22 22599670 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.359G>A|p.Arg120His|385/641|359/438|120/145|| 22 22599674 . C T . . ANN=T|synonymous_variant|LOW|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.363C>T|p.Ser121Ser|389/641|363/438|121/145|| 22 22599676 . C T . . ANN=T|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.365C>T|p.Ser122Leu|391/641|365/438|122/145|| 22 22599705 . G A . . ANN=A|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.394G>A|p.Glu132Lys|420/641|394/438|132/145|| 22 22599714 . A G . . ANN=G|missense_variant|MODERATE|VPREB1|VPREB1|transcript|NM_007128.2|Coding|2/2|c.403A>G|p.Met135Val|429/641|403/438|135/145|| 22 22842170 . T C . . ANN=C|synonymous_variant|LOW|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.1554A>G|p.Ala518Ala|2330/5728|1554/1632|518/543|| 22 22842206 . T C . . ANN=C|synonymous_variant|LOW|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.1518A>G|p.Ser506Ser|2294/5728|1518/1632|506/543|| 22 22842308 . G C . . ANN=C|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.1416C>G|p.Phe472Leu|2192/5728|1416/1632|472/543|| 22 22842336 . G A . . ANN=A|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.1388C>T|p.Ser463Phe|2164/5728|1388/1632|463/543|| 22 22842452 . C T . . ANN=T|synonymous_variant|LOW|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.1272G>A|p.Thr424Thr|2048/5728|1272/1632|424/543|| 22 22842484 . C T . . ANN=T|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.1240G>A|p.Val414Ile|2016/5728|1240/1632|414/543|| 22 22842637 . C T . . ANN=T|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.1087G>A|p.Glu363Lys|1863/5728|1087/1632|363/543|| 22 22842660 . G A . . ANN=A|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.1064C>T|p.Pro355Leu|1840/5728|1064/1632|355/543|| 22 22842787 . C T . . ANN=T|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.937G>A|p.Val313Met|1713/5728|937/1632|313/543|| 22 22842788 . G A . . ANN=A|synonymous_variant|LOW|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.936C>T|p.Cys312Cys|1712/5728|936/1632|312/543|| 22 22842828 . G A . . ANN=A|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.896C>T|p.Pro299Leu|1672/5728|896/1632|299/543|| 22 22842957 . T G . . ANN=G|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.767A>C|p.Glu256Ala|1543/5728|767/1632|256/543|| 22 22843002 . TTTGGAAAAGCTG T . . ANN=T|disruptive_inframe_deletion|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.710_721delCAGCTTTTCCAA|p.Ala237_Lys241delinsGlu|1497/5728|710/1632|237/543|| 22 22843118 . C T . . ANN=T|synonymous_variant|LOW|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.606G>A|p.Ser202Ser|1382/5728|606/1632|202/543|| 22 22843151 . C T . . ANN=T|synonymous_variant|LOW|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.573G>A|p.Arg191Arg|1349/5728|573/1632|191/543|| 22 22843190 . G A . . ANN=A|synonymous_variant|LOW|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.534C>T|p.Phe178Phe|1310/5728|534/1632|178/543|| 22 22843191 . A G . . ANN=G|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.533T>C|p.Phe178Ser|1309/5728|533/1632|178/543|| 22 22843224 . T C . . ANN=C|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.500A>G|p.Glu167Gly|1276/5728|500/1632|167/543|| 22 22843284 . G A . . ANN=A|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.440C>T|p.Thr147Ile|1216/5728|440/1632|147/543|| 22 22843423 . C T . . ANN=T|missense_variant|MODERATE|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.301G>A|p.Val101Ile|1077/5728|301/1632|101/543|| 22 22843469 . T C . . ANN=C|synonymous_variant|LOW|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.255A>G|p.Lys85Lys|1031/5728|255/1632|85/543|| 22 22843749 . GT G . . ANN=G|5_prime_UTR_variant|MODIFIER|ZNF280B|ZNF280B|transcript|NM_080764.2|Coding|4/4|c.-27delA|||||27| 22 22868306 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.*20C>T|||||20| 22 22868316 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.*10C>T|||||10| 22 22868413 . G A . . ANN=A|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.1542C>T|p.Asp514Asp|1806/2158|1542/1629|514/542|| 22 22868493 . G T . . ANN=T|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.1462C>A|p.Arg488Ser|1726/2158|1462/1629|488/542|| 22 22868497 . G C . . ANN=C|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.1458C>G|p.Phe486Leu|1722/2158|1458/1629|486/542|| 22 22868570 . G A . . ANN=A|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.1385C>T|p.Thr462Met|1649/2158|1385/1629|462/542|| 22 22868572 . CA C . . ANN=C|frameshift_variant|HIGH|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.1382delT|p.Leu461fs|1646/2158|1382/1629|461/542||;LOF=(ZNF280A|ZNF280A|1|1.00) 22 22868574 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.1381T>C|p.Leu461Leu|1645/2158|1381/1629|461/542|| 22 22868592 . TG T . . ANN=T|frameshift_variant|HIGH|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.1362delC|p.Ser454fs|1626/2158|1362/1629|454/542||;LOF=(ZNF280A|ZNF280A|1|1.00) 22 22868692 . C A . . ANN=A|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.1263G>T|p.Lys421Asn|1527/2158|1263/1629|421/542|| 22 22869085 . C T . . ANN=T|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.870G>A|p.Pro290Pro|1134/2158|870/1629|290/542|| 22 22869123 . T C . . ANN=C|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.832A>G|p.Asn278Asp|1096/2158|832/1629|278/542|| 22 22869129 . G A . . ANN=A|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.826C>T|p.Leu276Phe|1090/2158|826/1629|276/542|| 22 22869136 . G A . . ANN=A|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.819C>T|p.Ile273Ile|1083/2158|819/1629|273/542|| 22 22869170 . T G . . ANN=G|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.785A>C|p.Asn262Thr|1049/2158|785/1629|262/542|| 22 22869209 . C G . . ANN=G|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.746G>C|p.Gly249Ala|1010/2158|746/1629|249/542|| 22 22869218 . T C . . ANN=C|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.737A>G|p.Asn246Ser|1001/2158|737/1629|246/542|| 22 22869316 . G A . . ANN=A|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.639C>T|p.Ile213Ile|903/2158|639/1629|213/542|| 22 22869349 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.606T>C|p.Ser202Ser|870/2158|606/1629|202/542|| 22 22869439 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.516T>C|p.Asp172Asp|780/2158|516/1629|172/542|| 22 22869470 . G C . . ANN=C|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.485C>G|p.Ser162Cys|749/2158|485/1629|162/542|| 22 22869477 . C T . . ANN=T|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.478G>A|p.Glu160Lys|742/2158|478/1629|160/542|| 22 22869520 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.435T>C|p.Thr145Thr|699/2158|435/1629|145/542|| 22 22869528 . G T . . ANN=T|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.427C>A|p.Pro143Thr|691/2158|427/1629|143/542|| 22 22869545 . T G . . ANN=G|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.410A>C|p.Tyr137Ser|674/2158|410/1629|137/542|| 22 22869649 . G C . . ANN=C|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.306C>G|p.Pro102Pro|570/2158|306/1629|102/542|| 22 22869684 . T G . . ANN=G|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.271A>C|p.Asn91His|535/2158|271/1629|91/542|| 22 22869694 . C T . . ANN=T|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.261G>A|p.Ser87Ser|525/2158|261/1629|87/542|| 22 22869742 . C A . . ANN=A|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.213G>T|p.Lys71Asn|477/2158|213/1629|71/542|| 22 22869877 . A G . . ANN=G|synonymous_variant|LOW|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.78T>C|p.Asp26Asp|342/2158|78/1629|26/542|| 22 22869888 . T C . . ANN=C|missense_variant|MODERATE|ZNF280A|ZNF280A|transcript|NM_080740.4|Coding|2/2|c.67A>G|p.Arg23Gly|331/2158|67/1629|23/542|| 22 22890461 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.*28C>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.*28C>A|||||28| 22 22890486 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.*3G>A|||||3| 22 22890492 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1527C>T|p.Asn509Asn|1835/2209|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1527C>T|p.Asn509Asn|1814/2188|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1479C>T|p.Asn493Asn|1716/2090|1479/1482|493/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1479C>T|p.Asn493Asn|1933/2307|1479/1482|493/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1527C>T|p.Asn509Asn|1848/2222|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1527C>T|p.Asn509Asn|2462/2836|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1527C>T|p.Asn509Asn|1827/2201|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1527C>T|p.Asn509Asn|2052/2426|1527/1530|509/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1527C>T|p.Asn509Asn|2031/2405|1527/1530|509/509|| 22 22890505 . CAG C . . ANN=C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1512_1513delCT|p.Pro504fs|1821/2209|1512/1530|504/509||,C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1512_1513delCT|p.Pro504fs|1800/2188|1512/1530|504/509||,C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1464_1465delCT|p.Pro488fs|1702/2090|1464/1482|488/493||,C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1464_1465delCT|p.Pro488fs|1919/2307|1464/1482|488/493||,C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1512_1513delCT|p.Pro504fs|1834/2222|1512/1530|504/509||,C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1512_1513delCT|p.Pro504fs|2448/2836|1512/1530|504/509||,C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1512_1513delCT|p.Pro504fs|1813/2201|1512/1530|504/509||,C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1512_1513delCT|p.Pro504fs|2038/2426|1512/1530|504/509||,C|frameshift_variant|HIGH|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1512_1513delCT|p.Pro504fs|2017/2405|1512/1530|504/509|| 22 22890532 . TAGA T . . ANN=T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1484_1486delTCT|p.Phe495del|1794/2209|1484/1530|495/509||,T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1484_1486delTCT|p.Phe495del|1773/2188|1484/1530|495/509||,T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1436_1438delTCT|p.Phe479del|1675/2090|1436/1482|479/493||,T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1436_1438delTCT|p.Phe479del|1892/2307|1436/1482|479/493||,T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1484_1486delTCT|p.Phe495del|1807/2222|1484/1530|495/509||,T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1484_1486delTCT|p.Phe495del|2421/2836|1484/1530|495/509||,T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1484_1486delTCT|p.Phe495del|1786/2201|1484/1530|495/509||,T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1484_1486delTCT|p.Phe495del|2011/2426|1484/1530|495/509||,T|disruptive_inframe_deletion|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1484_1486delTCT|p.Phe495del|1990/2405|1484/1530|495/509|| 22 22890552 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1467C>T|p.His489His|1775/2209|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1467C>T|p.His489His|1754/2188|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1419C>T|p.His473His|1656/2090|1419/1482|473/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1419C>T|p.His473His|1873/2307|1419/1482|473/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1467C>T|p.His489His|1788/2222|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1467C>T|p.His489His|2402/2836|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1467C>T|p.His489His|1767/2201|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1467C>T|p.His489His|1992/2426|1467/1530|489/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1467C>T|p.His489His|1971/2405|1467/1530|489/509|| 22 22890562 . G C . . ANN=C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1457C>G|p.Pro486Arg|1765/2209|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1457C>G|p.Pro486Arg|1744/2188|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1409C>G|p.Pro470Arg|1646/2090|1409/1482|470/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1409C>G|p.Pro470Arg|1863/2307|1409/1482|470/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1457C>G|p.Pro486Arg|1778/2222|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1457C>G|p.Pro486Arg|2392/2836|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1457C>G|p.Pro486Arg|1757/2201|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1457C>G|p.Pro486Arg|1982/2426|1457/1530|486/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1457C>G|p.Pro486Arg|1961/2405|1457/1530|486/509|| 22 22890593 . G A . . ANN=A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1426C>T|p.Arg476Trp|1734/2209|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1426C>T|p.Arg476Trp|1713/2188|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1378C>T|p.Arg460Trp|1615/2090|1378/1482|460/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1378C>T|p.Arg460Trp|1832/2307|1378/1482|460/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1426C>T|p.Arg476Trp|1747/2222|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1426C>T|p.Arg476Trp|2361/2836|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1426C>T|p.Arg476Trp|1726/2201|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1426C>T|p.Arg476Trp|1951/2426|1426/1530|476/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1426C>T|p.Arg476Trp|1930/2405|1426/1530|476/509|| 22 22890642 . C A . . ANN=A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1377G>T|p.Arg459Ser|1685/2209|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1377G>T|p.Arg459Ser|1664/2188|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1329G>T|p.Arg443Ser|1566/2090|1329/1482|443/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1329G>T|p.Arg443Ser|1783/2307|1329/1482|443/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1377G>T|p.Arg459Ser|1698/2222|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1377G>T|p.Arg459Ser|2312/2836|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1377G>T|p.Arg459Ser|1677/2201|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1377G>T|p.Arg459Ser|1902/2426|1377/1530|459/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1377G>T|p.Arg459Ser|1881/2405|1377/1530|459/509|| 22 22890722 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1297C>T|p.Leu433Leu|1605/2209|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1297C>T|p.Leu433Leu|1584/2188|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1249C>T|p.Leu417Leu|1486/2090|1249/1482|417/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1249C>T|p.Leu417Leu|1703/2307|1249/1482|417/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1297C>T|p.Leu433Leu|1618/2222|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1297C>T|p.Leu433Leu|2232/2836|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1297C>T|p.Leu433Leu|1597/2201|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1297C>T|p.Leu433Leu|1822/2426|1297/1530|433/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1297C>T|p.Leu433Leu|1801/2405|1297/1530|433/509|| 22 22890752 . A G . . ANN=G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1267T>C|p.Leu423Leu|1575/2209|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1267T>C|p.Leu423Leu|1554/2188|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1219T>C|p.Leu407Leu|1456/2090|1219/1482|407/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1219T>C|p.Leu407Leu|1673/2307|1219/1482|407/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1267T>C|p.Leu423Leu|1588/2222|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1267T>C|p.Leu423Leu|2202/2836|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1267T>C|p.Leu423Leu|1567/2201|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1267T>C|p.Leu423Leu|1792/2426|1267/1530|423/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1267T>C|p.Leu423Leu|1771/2405|1267/1530|423/509|| 22 22890756 . A G . . ANN=G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1263T>C|p.Ser421Ser|1571/2209|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1263T>C|p.Ser421Ser|1550/2188|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1215T>C|p.Ser405Ser|1452/2090|1215/1482|405/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1215T>C|p.Ser405Ser|1669/2307|1215/1482|405/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1263T>C|p.Ser421Ser|1584/2222|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1263T>C|p.Ser421Ser|2198/2836|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1263T>C|p.Ser421Ser|1563/2201|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1263T>C|p.Ser421Ser|1788/2426|1263/1530|421/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1263T>C|p.Ser421Ser|1767/2405|1263/1530|421/509|| 22 22890792 . T C . . ANN=C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1227A>G|p.Thr409Thr|1535/2209|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1227A>G|p.Thr409Thr|1514/2188|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1179A>G|p.Thr393Thr|1416/2090|1179/1482|393/493||,C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1179A>G|p.Thr393Thr|1633/2307|1179/1482|393/493||,C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1227A>G|p.Thr409Thr|1548/2222|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1227A>G|p.Thr409Thr|2162/2836|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1227A>G|p.Thr409Thr|1527/2201|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1227A>G|p.Thr409Thr|1752/2426|1227/1530|409/509||,C|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1227A>G|p.Thr409Thr|1731/2405|1227/1530|409/509|| 22 22890869 . C T . . ANN=T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1150G>A|p.Val384Ile|1458/2209|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1150G>A|p.Val384Ile|1437/2188|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1102G>A|p.Val368Ile|1339/2090|1102/1482|368/493||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1102G>A|p.Val368Ile|1556/2307|1102/1482|368/493||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1150G>A|p.Val384Ile|1471/2222|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1150G>A|p.Val384Ile|2085/2836|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1150G>A|p.Val384Ile|1450/2201|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1150G>A|p.Val384Ile|1675/2426|1150/1530|384/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1150G>A|p.Val384Ile|1654/2405|1150/1530|384/509|| 22 22890903 . C G . . ANN=G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1116G>C|p.Leu372Leu|1424/2209|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1116G>C|p.Leu372Leu|1403/2188|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1068G>C|p.Leu356Leu|1305/2090|1068/1482|356/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1068G>C|p.Leu356Leu|1522/2307|1068/1482|356/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1116G>C|p.Leu372Leu|1437/2222|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1116G>C|p.Leu372Leu|2051/2836|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1116G>C|p.Leu372Leu|1416/2201|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1116G>C|p.Leu372Leu|1641/2426|1116/1530|372/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1116G>C|p.Leu372Leu|1620/2405|1116/1530|372/509|| 22 22890933 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1086C>T|p.Thr362Thr|1394/2209|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1086C>T|p.Thr362Thr|1373/2188|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1038C>T|p.Thr346Thr|1275/2090|1038/1482|346/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1038C>T|p.Thr346Thr|1492/2307|1038/1482|346/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1086C>T|p.Thr362Thr|1407/2222|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1086C>T|p.Thr362Thr|2021/2836|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1086C>T|p.Thr362Thr|1386/2201|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1086C>T|p.Thr362Thr|1611/2426|1086/1530|362/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1086C>T|p.Thr362Thr|1590/2405|1086/1530|362/509|| 22 22890941 . T G . . ANN=G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1078A>C|p.Met360Leu|1386/2209|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1078A>C|p.Met360Leu|1365/2188|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.1030A>C|p.Met344Leu|1267/2090|1030/1482|344/493||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.1030A>C|p.Met344Leu|1484/2307|1030/1482|344/493||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1078A>C|p.Met360Leu|1399/2222|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1078A>C|p.Met360Leu|2013/2836|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1078A>C|p.Met360Leu|1378/2201|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1078A>C|p.Met360Leu|1603/2426|1078/1530|360/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1078A>C|p.Met360Leu|1582/2405|1078/1530|360/509|| 22 22891014 . C T . . ANN=T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.1005G>A|p.Ser335Ser|1313/2209|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.1005G>A|p.Ser335Ser|1292/2188|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.957G>A|p.Ser319Ser|1194/2090|957/1482|319/493||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.957G>A|p.Ser319Ser|1411/2307|957/1482|319/493||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.1005G>A|p.Ser335Ser|1326/2222|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.1005G>A|p.Ser335Ser|1940/2836|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.1005G>A|p.Ser335Ser|1305/2201|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.1005G>A|p.Ser335Ser|1530/2426|1005/1530|335/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.1005G>A|p.Ser335Ser|1509/2405|1005/1530|335/509|| 22 22891062 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|5/5|c.957C>T|p.His319His|1265/2209|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|5/5|c.957C>T|p.His319His|1244/2188|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|4/4|c.909C>T|p.His303His|1146/2090|909/1482|303/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|5/5|c.909C>T|p.His303His|1363/2307|909/1482|303/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|6/6|c.957C>T|p.His319His|1278/2222|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|5/5|c.957C>T|p.His319His|1892/2836|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|6/6|c.957C>T|p.His319His|1257/2201|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|6/6|c.957C>T|p.His319His|1482/2426|957/1530|319/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|6/6|c.957C>T|p.His319His|1461/2405|957/1530|319/509|| 22 22891081 . G T . . ANN=T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/4|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/4|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/3|c.906-16C>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/4|c.906-16C>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_006115.4|Coding|5/5|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206953.2|Coding|4/4|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206954.2|Coding|5/5|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206955.2|Coding|5/5|c.954-16C>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206956.2|Coding|5/5|c.954-16C>A|||||| 22 22892195 . A G . . ANN=G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.906T>C|p.Tyr302Tyr|1214/2209|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.906T>C|p.Tyr302Tyr|1193/2188|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.858T>C|p.Tyr286Tyr|1095/2090|858/1482|286/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.858T>C|p.Tyr286Tyr|1312/2307|858/1482|286/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.906T>C|p.Tyr302Tyr|1227/2222|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.906T>C|p.Tyr302Tyr|1841/2836|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.906T>C|p.Tyr302Tyr|1206/2201|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.906T>C|p.Tyr302Tyr|1431/2426|906/1530|302/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.906T>C|p.Tyr302Tyr|1410/2405|906/1530|302/509|| 22 22892196 . T C . . ANN=C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.905A>G|p.Tyr302Cys|1213/2209|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.905A>G|p.Tyr302Cys|1192/2188|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.857A>G|p.Tyr286Cys|1094/2090|857/1482|286/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.857A>G|p.Tyr286Cys|1311/2307|857/1482|286/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.905A>G|p.Tyr302Cys|1226/2222|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.905A>G|p.Tyr302Cys|1840/2836|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.905A>G|p.Tyr302Cys|1205/2201|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.905A>G|p.Tyr302Cys|1430/2426|905/1530|302/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.905A>G|p.Tyr302Cys|1409/2405|905/1530|302/509|| 22 22892255 . C T . . ANN=T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.846G>A|p.Glu282Glu|1154/2209|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.846G>A|p.Glu282Glu|1133/2188|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.798G>A|p.Glu266Glu|1035/2090|798/1482|266/493||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.798G>A|p.Glu266Glu|1252/2307|798/1482|266/493||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.846G>A|p.Glu282Glu|1167/2222|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.846G>A|p.Glu282Glu|1781/2836|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.846G>A|p.Glu282Glu|1146/2201|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.846G>A|p.Glu282Glu|1371/2426|846/1530|282/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.846G>A|p.Glu282Glu|1350/2405|846/1530|282/509|| 22 22892268 . G A . . ANN=A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.833C>T|p.Pro278Leu|1141/2209|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.833C>T|p.Pro278Leu|1120/2188|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.785C>T|p.Pro262Leu|1022/2090|785/1482|262/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.785C>T|p.Pro262Leu|1239/2307|785/1482|262/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.833C>T|p.Pro278Leu|1154/2222|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.833C>T|p.Pro278Leu|1768/2836|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.833C>T|p.Pro278Leu|1133/2201|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.833C>T|p.Pro278Leu|1358/2426|833/1530|278/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.833C>T|p.Pro278Leu|1337/2405|833/1530|278/509|| 22 22892303 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.798C>T|p.Leu266Leu|1106/2209|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.798C>T|p.Leu266Leu|1085/2188|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.750C>T|p.Leu250Leu|987/2090|750/1482|250/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.750C>T|p.Leu250Leu|1204/2307|750/1482|250/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.798C>T|p.Leu266Leu|1119/2222|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.798C>T|p.Leu266Leu|1733/2836|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.798C>T|p.Leu266Leu|1098/2201|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.798C>T|p.Leu266Leu|1323/2426|798/1530|266/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.798C>T|p.Leu266Leu|1302/2405|798/1530|266/509|| 22 22892308 . G C . . ANN=C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.793C>G|p.Leu265Val|1101/2209|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.793C>G|p.Leu265Val|1080/2188|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.745C>G|p.Leu249Val|982/2090|745/1482|249/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.745C>G|p.Leu249Val|1199/2307|745/1482|249/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.793C>G|p.Leu265Val|1114/2222|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.793C>G|p.Leu265Val|1728/2836|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.793C>G|p.Leu265Val|1093/2201|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.793C>G|p.Leu265Val|1318/2426|793/1530|265/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.793C>G|p.Leu265Val|1297/2405|793/1530|265/509|| 22 22892314 . G A . . ANN=A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.787C>T|p.Arg263Cys|1095/2209|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.787C>T|p.Arg263Cys|1074/2188|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.739C>T|p.Arg247Cys|976/2090|739/1482|247/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.739C>T|p.Arg247Cys|1193/2307|739/1482|247/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.787C>T|p.Arg263Cys|1108/2222|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.787C>T|p.Arg263Cys|1722/2836|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.787C>T|p.Arg263Cys|1087/2201|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.787C>T|p.Arg263Cys|1312/2426|787/1530|263/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.787C>T|p.Arg263Cys|1291/2405|787/1530|263/509|| 22 22892335 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.766C>T|p.Leu256Leu|1074/2209|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.766C>T|p.Leu256Leu|1053/2188|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.718C>T|p.Leu240Leu|955/2090|718/1482|240/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.718C>T|p.Leu240Leu|1172/2307|718/1482|240/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.766C>T|p.Leu256Leu|1087/2222|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.766C>T|p.Leu256Leu|1701/2836|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.766C>T|p.Leu256Leu|1066/2201|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.766C>T|p.Leu256Leu|1291/2426|766/1530|256/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.766C>T|p.Leu256Leu|1270/2405|766/1530|256/509|| 22 22892342 . A G . . ANN=G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.759T>C|p.Ser253Ser|1067/2209|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.759T>C|p.Ser253Ser|1046/2188|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.711T>C|p.Ser237Ser|948/2090|711/1482|237/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.711T>C|p.Ser237Ser|1165/2307|711/1482|237/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.759T>C|p.Ser253Ser|1080/2222|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.759T>C|p.Ser253Ser|1694/2836|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.759T>C|p.Ser253Ser|1059/2201|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.759T>C|p.Ser253Ser|1284/2426|759/1530|253/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.759T>C|p.Ser253Ser|1263/2405|759/1530|253/509|| 22 22892362 . G A . . ANN=A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.739C>T|p.Pro247Ser|1047/2209|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.739C>T|p.Pro247Ser|1026/2188|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.691C>T|p.Pro231Ser|928/2090|691/1482|231/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.691C>T|p.Pro231Ser|1145/2307|691/1482|231/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.739C>T|p.Pro247Ser|1060/2222|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.739C>T|p.Pro247Ser|1674/2836|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.739C>T|p.Pro247Ser|1039/2201|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.739C>T|p.Pro247Ser|1264/2426|739/1530|247/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.739C>T|p.Pro247Ser|1243/2405|739/1530|247/509|| 22 22892449 . T C . . ANN=C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.652A>G|p.Met218Val|960/2209|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.652A>G|p.Met218Val|939/2188|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.604A>G|p.Met202Val|841/2090|604/1482|202/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.604A>G|p.Met202Val|1058/2307|604/1482|202/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.652A>G|p.Met218Val|973/2222|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.652A>G|p.Met218Val|1587/2836|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.652A>G|p.Met218Val|952/2201|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.652A>G|p.Met218Val|1177/2426|652/1530|218/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.652A>G|p.Met218Val|1156/2405|652/1530|218/509|| 22 22892481 . C T . . ANN=T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.620G>A|p.Arg207His|928/2209|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.620G>A|p.Arg207His|907/2188|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.572G>A|p.Arg191His|809/2090|572/1482|191/493||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.572G>A|p.Arg191His|1026/2307|572/1482|191/493||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.620G>A|p.Arg207His|941/2222|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.620G>A|p.Arg207His|1555/2836|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.620G>A|p.Arg207His|920/2201|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.620G>A|p.Arg207His|1145/2426|620/1530|207/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.620G>A|p.Arg207His|1124/2405|620/1530|207/509|| 22 22892490 . T C . . ANN=C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.611A>G|p.Asn204Ser|919/2209|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.611A>G|p.Asn204Ser|898/2188|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.563A>G|p.Asn188Ser|800/2090|563/1482|188/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.563A>G|p.Asn188Ser|1017/2307|563/1482|188/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.611A>G|p.Asn204Ser|932/2222|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.611A>G|p.Asn204Ser|1546/2836|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.611A>G|p.Asn204Ser|911/2201|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.611A>G|p.Asn204Ser|1136/2426|611/1530|204/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.611A>G|p.Asn204Ser|1115/2405|611/1530|204/509|| 22 22892514 . A G . . ANN=G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.587T>C|p.Ile196Thr|895/2209|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.587T>C|p.Ile196Thr|874/2188|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.539T>C|p.Ile180Thr|776/2090|539/1482|180/493||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.539T>C|p.Ile180Thr|993/2307|539/1482|180/493||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.587T>C|p.Ile196Thr|908/2222|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.587T>C|p.Ile196Thr|1522/2836|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.587T>C|p.Ile196Thr|887/2201|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.587T>C|p.Ile196Thr|1112/2426|587/1530|196/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.587T>C|p.Ile196Thr|1091/2405|587/1530|196/509|| 22 22892556 . A G . . ANN=G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.545T>C|p.Phe182Ser|853/2209|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.545T>C|p.Phe182Ser|832/2188|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.497T>C|p.Phe166Ser|734/2090|497/1482|166/493||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.497T>C|p.Phe166Ser|951/2307|497/1482|166/493||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.545T>C|p.Phe182Ser|866/2222|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.545T>C|p.Phe182Ser|1480/2836|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.545T>C|p.Phe182Ser|845/2201|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.545T>C|p.Phe182Ser|1070/2426|545/1530|182/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.545T>C|p.Phe182Ser|1049/2405|545/1530|182/509|| 22 22892615 . A G . . ANN=G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|4/5|c.486T>C|p.Asp162Asp|794/2209|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|4/5|c.486T>C|p.Asp162Asp|773/2188|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|3/4|c.438T>C|p.Asp146Asp|675/2090|438/1482|146/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|4/5|c.438T>C|p.Asp146Asp|892/2307|438/1482|146/493||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|5/6|c.486T>C|p.Asp162Asp|807/2222|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|4/5|c.486T>C|p.Asp162Asp|1421/2836|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|5/6|c.486T>C|p.Asp162Asp|786/2201|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|5/6|c.486T>C|p.Asp162Asp|1011/2426|486/1530|162/509||,G|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|5/6|c.486T>C|p.Asp162Asp|990/2405|486/1530|162/509|| 22 22892775 . A G . . ANN=G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/4|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/4|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/3|c.297-19T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/4|c.297-19T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_006115.4|Coding|4/5|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206953.2|Coding|3/4|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206954.2|Coding|4/5|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206955.2|Coding|4/5|c.345-19T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206956.2|Coding|4/5|c.345-19T>C|||||| 22 22892800 . T G . . ANN=G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/4|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/4|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/3|c.297-44A>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/4|c.297-44A>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_006115.4|Coding|4/5|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206953.2|Coding|3/4|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206954.2|Coding|4/5|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206955.2|Coding|4/5|c.345-44A>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206956.2|Coding|4/5|c.345-44A>C|||||| 22 22893166 . C T . . ANN=T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/4|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/4|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/3|c.296+23G>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/4|c.296+23G>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_006115.4|Coding|4/5|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206953.2|Coding|3/4|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206954.2|Coding|4/5|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206955.2|Coding|4/5|c.344+23G>A||||||,T|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206956.2|Coding|4/5|c.344+23G>A|||||| 22 22893196 . G A . . ANN=A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.337C>T|p.Arg113Cys|645/2209|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.337C>T|p.Arg113Cys|624/2188|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.289C>T|p.Arg97Cys|526/2090|289/1482|97/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.289C>T|p.Arg97Cys|743/2307|289/1482|97/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.337C>T|p.Arg113Cys|658/2222|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.337C>T|p.Arg113Cys|1272/2836|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.337C>T|p.Arg113Cys|637/2201|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.337C>T|p.Arg113Cys|862/2426|337/1530|113/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.337C>T|p.Arg113Cys|841/2405|337/1530|113/509|| 22 22893297 . G A . . ANN=A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.236C>T|p.Thr79Ile|544/2209|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.236C>T|p.Thr79Ile|523/2188|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.188C>T|p.Thr63Ile|425/2090|188/1482|63/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.188C>T|p.Thr63Ile|642/2307|188/1482|63/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.236C>T|p.Thr79Ile|557/2222|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.236C>T|p.Thr79Ile|1171/2836|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.236C>T|p.Thr79Ile|536/2201|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.236C>T|p.Thr79Ile|761/2426|236/1530|79/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.236C>T|p.Thr79Ile|740/2405|236/1530|79/509|| 22 22893335 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.198C>T|p.Ser66Ser|506/2209|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.198C>T|p.Ser66Ser|485/2188|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.150C>T|p.Ser50Ser|387/2090|150/1482|50/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.150C>T|p.Ser50Ser|604/2307|150/1482|50/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.198C>T|p.Ser66Ser|519/2222|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.198C>T|p.Ser66Ser|1133/2836|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.198C>T|p.Ser66Ser|498/2201|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.198C>T|p.Ser66Ser|723/2426|198/1530|66/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.198C>T|p.Ser66Ser|702/2405|198/1530|66/509|| 22 22893347 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.186C>T|p.Asp62Asp|494/2209|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.186C>T|p.Asp62Asp|473/2188|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.138C>T|p.Asp46Asp|375/2090|138/1482|46/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.138C>T|p.Asp46Asp|592/2307|138/1482|46/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.186C>T|p.Asp62Asp|507/2222|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.186C>T|p.Asp62Asp|1121/2836|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.186C>T|p.Asp62Asp|486/2201|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.186C>T|p.Asp62Asp|711/2426|186/1530|62/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.186C>T|p.Asp62Asp|690/2405|186/1530|62/509|| 22 22893392 . C G . . ANN=G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.141G>C|p.Leu47Phe|449/2209|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.141G>C|p.Leu47Phe|428/2188|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.93G>C|p.Leu31Phe|330/2090|93/1482|31/493||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.93G>C|p.Leu31Phe|547/2307|93/1482|31/493||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.141G>C|p.Leu47Phe|462/2222|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.141G>C|p.Leu47Phe|1076/2836|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.141G>C|p.Leu47Phe|441/2201|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.141G>C|p.Leu47Phe|666/2426|141/1530|47/509||,G|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.141G>C|p.Leu47Phe|645/2405|141/1530|47/509|| 22 22893394 . A T . . ANN=T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.139T>A|p.Leu47Met|447/2209|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.139T>A|p.Leu47Met|426/2188|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.91T>A|p.Leu31Met|328/2090|91/1482|31/493||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.91T>A|p.Leu31Met|545/2307|91/1482|31/493||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.139T>A|p.Leu47Met|460/2222|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.139T>A|p.Leu47Met|1074/2836|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.139T>A|p.Leu47Met|439/2201|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.139T>A|p.Leu47Met|664/2426|139/1530|47/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.139T>A|p.Leu47Met|643/2405|139/1530|47/509|| 22 22893403 . C T . . ANN=T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.130G>A|p.Ala44Thr|438/2209|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.130G>A|p.Ala44Thr|417/2188|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.82G>A|p.Ala28Thr|319/2090|82/1482|28/493||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.82G>A|p.Ala28Thr|536/2307|82/1482|28/493||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.130G>A|p.Ala44Thr|451/2222|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.130G>A|p.Ala44Thr|1065/2836|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.130G>A|p.Ala44Thr|430/2201|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.130G>A|p.Ala44Thr|655/2426|130/1530|44/509||,T|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.130G>A|p.Ala44Thr|634/2405|130/1530|44/509|| 22 22893404 . G A . . ANN=A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.129C>T|p.Ala43Ala|437/2209|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.129C>T|p.Ala43Ala|416/2188|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.81C>T|p.Ala27Ala|318/2090|81/1482|27/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.81C>T|p.Ala27Ala|535/2307|81/1482|27/493||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.129C>T|p.Ala43Ala|450/2222|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.129C>T|p.Ala43Ala|1064/2836|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.129C>T|p.Ala43Ala|429/2201|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.129C>T|p.Ala43Ala|654/2426|129/1530|43/509||,A|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.129C>T|p.Ala43Ala|633/2405|129/1530|43/509|| 22 22893410 . G T . . ANN=T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.123C>A|p.Ala41Ala|431/2209|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.123C>A|p.Ala41Ala|410/2188|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.75C>A|p.Ala25Ala|312/2090|75/1482|25/493||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.75C>A|p.Ala25Ala|529/2307|75/1482|25/493||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.123C>A|p.Ala41Ala|444/2222|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.123C>A|p.Ala41Ala|1058/2836|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.123C>A|p.Ala41Ala|423/2201|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.123C>A|p.Ala41Ala|648/2426|123/1530|41/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.123C>A|p.Ala41Ala|627/2405|123/1530|41/509|| 22 22893463 . G A,C,T . . ANN=A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.70C>T|p.Arg24Trp|378/2209|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.70C>G|p.Arg24Gly|378/2209|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.70C>T|p.Arg24Trp|357/2188|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.70C>G|p.Arg24Gly|357/2188|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.22C>T|p.Arg8Trp|259/2090|22/1482|8/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.22C>G|p.Arg8Gly|259/2090|22/1482|8/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.22C>T|p.Arg8Trp|476/2307|22/1482|8/493||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.22C>G|p.Arg8Gly|476/2307|22/1482|8/493||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.70C>T|p.Arg24Trp|391/2222|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.70C>G|p.Arg24Gly|391/2222|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.70C>T|p.Arg24Trp|1005/2836|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.70C>G|p.Arg24Gly|1005/2836|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.70C>T|p.Arg24Trp|370/2201|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.70C>G|p.Arg24Gly|370/2201|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.70C>T|p.Arg24Trp|595/2426|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.70C>G|p.Arg24Gly|595/2426|70/1530|24/509||,A|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.70C>T|p.Arg24Trp|574/2405|70/1530|24/509||,C|missense_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.70C>G|p.Arg24Gly|574/2405|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291715.1|Coding|3/5|c.70C>A|p.Arg24Arg|378/2209|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291716.1|Coding|3/5|c.70C>A|p.Arg24Arg|357/2188|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291719.1|Coding|2/4|c.22C>A|p.Arg8Arg|259/2090|22/1482|8/493||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_001291717.1|Coding|3/5|c.22C>A|p.Arg8Arg|476/2307|22/1482|8/493||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_006115.4|Coding|4/6|c.70C>A|p.Arg24Arg|391/2222|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206953.2|Coding|3/5|c.70C>A|p.Arg24Arg|1005/2836|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206954.2|Coding|4/6|c.70C>A|p.Arg24Arg|370/2201|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206955.2|Coding|4/6|c.70C>A|p.Arg24Arg|595/2426|70/1530|24/509||,T|synonymous_variant|LOW|PRAME|PRAME|transcript|NM_206956.2|Coding|4/6|c.70C>A|p.Arg24Arg|574/2405|70/1530|24/509|| 22 22893523 . T C . . ANN=C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291715.1|Coding|2/4|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291716.1|Coding|2/4|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|1/3|c.-27-12A>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|2/4|c.-27-12A>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_006115.4|Coding|3/5|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206953.2|Coding|2/4|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206954.2|Coding|3/5|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206955.2|Coding|3/5|c.22-12A>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206956.2|Coding|3/5|c.22-12A>G|||||| 22 22899189 . G C . . ANN=C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291715.1|Coding|2/4|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291716.1|Coding|2/4|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|1/3|c.-28+776C>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|2/4|c.-28+776C>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_006115.4|Coding|3/5|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206953.2|Coding|2/4|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206954.2|Coding|3/5|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206955.2|Coding|3/5|c.21+43C>G||||||,C|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_206956.2|Coding|3/5|c.21+43C>G|||||| 22 22899234 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|PRAME|PRAME|transcript|NM_001291715.1|Coding|2/5|c.19T>C|p.Trp7Arg|327/2209|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|PRAME|transcript|NM_001291716.1|Coding|2/5|c.19T>C|p.Trp7Arg|306/2188|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|PRAME|transcript|NM_006115.4|Coding|3/6|c.19T>C|p.Trp7Arg|340/2222|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|PRAME|transcript|NM_206953.2|Coding|2/5|c.19T>C|p.Trp7Arg|954/2836|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|PRAME|transcript|NM_206954.2|Coding|3/6|c.19T>C|p.Trp7Arg|319/2201|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|PRAME|transcript|NM_206955.2|Coding|3/6|c.19T>C|p.Trp7Arg|544/2426|19/1530|7/509||,G|missense_variant&splice_region_variant|MODERATE|PRAME|PRAME|transcript|NM_206956.2|Coding|3/6|c.19T>C|p.Trp7Arg|523/2405|19/1530|7/509||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291719.1|Coding|1/3|c.-28+731T>C||||||,G|intron_variant|MODIFIER|PRAME|PRAME|transcript|NM_001291717.1|Coding|2/4|c.-28+731T>C|||||| 22 23401684 . G T . . ANN=T|synonymous_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|7/7|c.1003C>A|p.Arg335Arg|1161/1252|1003/1047|335/348|| 22 23401696 . C T . . ANN=T|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|7/7|c.991G>A|p.Glu331Lys|1149/1252|991/1047|331/348|| 22 23401750 . C T . . ANN=T|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|7/7|c.937G>A|p.Val313Met|1095/1252|937/1047|313/348|| 22 23401770 . C T . . ANN=T|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|7/7|c.917G>A|p.Arg306His|1075/1252|917/1047|306/348|| 22 23401775 . C T . . ANN=T|synonymous_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|7/7|c.912G>A|p.Glu304Glu|1070/1252|912/1047|304/348|| 22 23401822 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|7/7|c.865C>T|p.Arg289Cys|1023/1252|865/1047|289/348|| 22 23401865 . G T . . ANN=T|synonymous_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|7/7|c.822C>A|p.Ile274Ile|980/1252|822/1047|274/348|| 22 23401917 . G A . . ANN=A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|6/6|c.791-21C>T|||||| 22 23401918 . C T . . ANN=T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|6/6|c.791-22G>A|||||| 22 23403947 . G A . . ANN=A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|6/6|c.790+40C>T|||||| 22 23403967 . G A . . ANN=A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|6/6|c.790+20C>T|||||| 22 23403976 . C T . . ANN=T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|6/6|c.790+11G>A|||||| 22 23404038 . C T . . ANN=T|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|6/7|c.739G>A|p.Val247Met|897/1252|739/1047|247/348|| 22 23406059 . C G . . ANN=G|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|5/6|c.653+21G>C|||||| 22 23406099 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|5/7|c.634C>T|p.Arg212Cys|792/1252|634/1047|212/348|| 22 23406103 . G A . . ANN=A|synonymous_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|5/7|c.630C>T|p.Ala210Ala|788/1252|630/1047|210/348|| 22 23406130 . G A . . ANN=A|synonymous_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|5/7|c.603C>T|p.Ser201Ser|761/1252|603/1047|201/348|| 22 23406180 . C G . . ANN=G|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|5/7|c.553G>C|p.Glu185Gln|711/1252|553/1047|185/348|| 22 23406182 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|5/7|c.551C>T|p.Thr184Ile|709/1252|551/1047|184/348|| 22 23406302 . T C . . ANN=C|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|5/7|c.431A>G|p.Glu144Gly|589/1252|431/1047|144/348|| 22 23406339 . C A . . ANN=A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-28G>T|||||| 22 23406340 . G A . . ANN=A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-29C>T|||||| 22 23437944 . G A . . ANN=A|missense_variant|MODERATE|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.62G>A|p.Arg21His|599/3208|62/1068|21/355||,A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-31633C>T|||||| 22 23438116 . C T . . ANN=T|synonymous_variant|LOW|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.234C>T|p.Ile78Ile|771/3208|234/1068|78/355||,T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-31805G>A|||||| 22 23438191 . C T . . ANN=T|synonymous_variant|LOW|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.309C>T|p.Asp103Asp|846/3208|309/1068|103/355||,T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-31880G>A|||||| 22 23438192 . G T . . ANN=T|missense_variant|MODERATE|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.310G>T|p.Ala104Ser|847/3208|310/1068|104/355||,T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-31881C>A|||||| 22 23438193 . C T . . ANN=T|missense_variant|MODERATE|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.311C>T|p.Ala104Val|848/3208|311/1068|104/355||,T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-31882G>A|||||| 22 23438340 . C T . . ANN=T|missense_variant|MODERATE|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.458C>T|p.Ala153Val|995/3208|458/1068|153/355||,T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-32029G>A|||||| 22 23438431 . G T . . ANN=T|synonymous_variant|LOW|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.549G>T|p.Thr183Thr|1086/3208|549/1068|183/355||,T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-32120C>A|||||| 22 23438488 . G C . . ANN=C|synonymous_variant|LOW|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.606G>C|p.Val202Val|1143/3208|606/1068|202/355||,C|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-32177C>G|||||| 22 23438506 . G A . . ANN=A|synonymous_variant|LOW|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.624G>A|p.Glu208Glu|1161/3208|624/1068|208/355||,A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-32195C>T|||||| 22 23438536 . C T . . ANN=T|synonymous_variant|LOW|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.654C>T|p.Gly218Gly|1191/3208|654/1068|218/355||,T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-32225G>A|||||| 22 23438569 . C T . . ANN=T|synonymous_variant|LOW|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/3|c.687C>T|p.Ser229Ser|1224/3208|687/1068|229/355||,T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-32258G>A|||||| 22 23438648 . G T . . ANN=T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.422-32337C>A||||||,T|intron_variant|MODIFIER|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/2|c.723+43G>T|||||| 22 23465238 . C T . . ANN=T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.421+10975G>A||||||,T|intron_variant|MODIFIER|GNAZ|GNAZ|transcript|NM_002073.2|Coding|2/2|c.724-36C>T|||||| 22 23465507 . G A . . ANN=A|synonymous_variant|LOW|GNAZ|GNAZ|transcript|NM_002073.2|Coding|3/3|c.957G>A|p.Glu319Glu|1494/3208|957/1068|319/355||,A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.421+10706C>T|||||| 22 23465631 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|GNAZ|GNAZ|transcript|NM_002073.2|Coding|3/3|c.*13G>A|||||13|,A|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.421+10582C>T|||||| 22 23476202 . C T . . ANN=T|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/6|c.421+11G>A|||||| 22 23476261 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/7|c.373C>T|p.Arg125Trp|531/1252|373/1047|125/348|| 22 23476266 . A G . . ANN=G|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|4/7|c.368T>C|p.Val123Ala|526/1252|368/1047|123/348|| 22 23476358 . A G . . ANN=G|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|3/6|c.303-27T>C|||||| 22 23481065 . G A . . ANN=A|synonymous_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|3/7|c.264C>T|p.Thr88Thr|422/1252|264/1047|88/348|| 22 23481102 . A G . . ANN=G|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|3/7|c.227T>C|p.Leu76Pro|385/1252|227/1047|76/348|| 22 23481133 . GAA G,GA . . ANN=G|splice_region_variant&intron_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/6|c.200-6_200-5delTT||||||,GA|splice_region_variant&intron_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/6|c.200-6delT|||||| 22 23481144 . A AC . . ANN=AC|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/6|c.200-16_200-15insG|||||| 22 23481146 . A C . . ANN=C|intron_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/6|c.200-17T>G|||||| 22 23482445 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/7|c.163C>T|p.His55Tyr|321/1252|163/1047|55/348|| 22 23482460 . A G . . ANN=G|synonymous_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/7|c.148T>C|p.Leu50Leu|306/1252|148/1047|50/348|| 22 23482482 . C T . . ANN=T|synonymous_variant|LOW|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/7|c.126G>A|p.Thr42Thr|284/1252|126/1047|42/348|| 22 23482483 . G A . . ANN=A|missense_variant|MODERATE|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/7|c.125C>T|p.Thr42Met|283/1252|125/1047|42/348|| 22 23482626 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/7|c.-19C>A|||||19| 22 23482646 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RTDR1|RTDR1|transcript|NM_014433.2|Coding|2/7|c.-39C>T|||||39| 22 23487533 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|1/11|c.-20C>T|||||20| 22 23487656 . T A . . ANN=A|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|1/11|c.104T>A|p.Val35Glu|144/3822|104/1002|35/333|| 22 23487701 . C T . . ANN=T|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|1/11|c.149C>T|p.Pro50Leu|189/3822|149/1002|50/333|| 22 23487711 . G T . . ANN=T|synonymous_variant|LOW|RAB36|RAB36|transcript|NM_004914.2|Coding|1/11|c.159G>T|p.Ala53Ala|199/3822|159/1002|53/333|| 22 23488775 . C A . . ANN=A|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|1/10|c.187-17C>A|||||| 22 23488859 . C T . . ANN=T|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|2/11|c.254C>T|p.Ala85Val|294/3822|254/1002|85/333|| 22 23488888 . G A . . ANN=A|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|2/10|c.267+16G>A|||||| 22 23492212 . T G . . ANN=G|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|2/10|c.268-38T>G|||||| 22 23492216 . A G . . ANN=G|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|2/10|c.268-34A>G|||||| 22 23492236 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|2/10|c.268-14C>T|||||| 22 23492257 . C T . . ANN=T|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|3/11|c.275C>T|p.Thr92Met|315/3822|275/1002|92/333|| 22 23492286 . C G . . ANN=G|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|3/11|c.304C>G|p.His102Asp|344/3822|304/1002|102/333|| 22 23492298 . C T . . ANN=T|stop_gained|HIGH|RAB36|RAB36|transcript|NM_004914.2|Coding|3/11|c.316C>T|p.Gln106*|356/3822|316/1002|106/333||;LOF=(RAB36|RAB36|1|1.00);NMD=(RAB36|RAB36|1|1.00) 22 23492320 . G A . . ANN=A|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|3/11|c.338G>A|p.Arg113His|378/3822|338/1002|113/333|| 22 23494619 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|3/10|c.360-29C>T|||||| 22 23494620 . G A . . ANN=A|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|3/10|c.360-28G>A|||||| 22 23494622 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|3/10|c.360-26C>T|||||| 22 23494651 . C T . . ANN=T|synonymous_variant|LOW|RAB36|RAB36|transcript|NM_004914.2|Coding|4/11|c.363C>T|p.Leu121Leu|403/3822|363/1002|121/333|| 22 23495216 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|RAB36|RAB36|transcript|NM_004914.2|Coding|4/10|c.426-4A>G|||||| 22 23495247 . C G . . ANN=G|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|5/11|c.453C>G|p.Asp151Glu|493/3822|453/1002|151/333|| 22 23495285 . G A . . ANN=A|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|5/11|c.491G>A|p.Arg164His|531/3822|491/1002|164/333|| 22 23498189 . A G . . ANN=G|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|6/11|c.562A>G|p.Ile188Val|602/3822|562/1002|188/333|| 22 23498262 . G A . . ANN=A|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|6/10|c.592+43G>A|||||| 22 23500227 . CCA C . . ANN=C|frameshift_variant&splice_region_variant|HIGH|RAB36|RAB36|transcript|NM_004914.2|Coding|7/11|c.642_643delCA|p.Thr214fs|682/3822|642/1002|214/333||;LOF=(RAB36|RAB36|1|1.00) 22 23501056 . ATCTC A . . ANN=A|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|7/10|c.645-28_645-25delTCTC|||||| 22 23501211 . G A . . ANN=A|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|8/10|c.726+45G>A|||||| 22 23501315 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|8/10|c.727-35C>T|||||| 22 23501320 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|8/10|c.727-30C>T|||||| 22 23501321 . G A . . ANN=A|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|8/10|c.727-29G>A|||||| 22 23501346 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RAB36|RAB36|transcript|NM_004914.2|Coding|8/10|c.727-4C>T|||||| 22 23501373 . C T . . ANN=T|synonymous_variant|LOW|RAB36|RAB36|transcript|NM_004914.2|Coding|9/11|c.750C>T|p.Ala250Ala|790/3822|750/1002|250/333|| 22 23503045 . G A . . ANN=A|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|9/10|c.818-21G>A|||||| 22 23503082 . A T . . ANN=T|synonymous_variant|LOW|RAB36|RAB36|transcript|NM_004914.2|Coding|10/11|c.834A>T|p.Ala278Ala|874/3822|834/1002|278/333|| 22 23503121 . G A . . ANN=A|synonymous_variant|LOW|RAB36|RAB36|transcript|NM_004914.2|Coding|10/11|c.873G>A|p.Ser291Ser|913/3822|873/1002|291/333|| 22 23503155 . C T . . ANN=T|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|10/11|c.907C>T|p.Arg303Trp|947/3822|907/1002|303/333|| 22 23503170 . A G . . ANN=G|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|10/11|c.922A>G|p.Asn308Asp|962/3822|922/1002|308/333|| 22 23503205 . G C . . ANN=C|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|10/10|c.937+20G>C|||||| 22 23503651 . C T . . ANN=T|intron_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|10/10|c.938-36C>T|||||| 22 23503706 . C T . . ANN=T|synonymous_variant|LOW|RAB36|RAB36|transcript|NM_004914.2|Coding|11/11|c.957C>T|p.Pro319Pro|997/3822|957/1002|319/333|| 22 23503707 . G A . . ANN=A|missense_variant|MODERATE|RAB36|RAB36|transcript|NM_004914.2|Coding|11/11|c.958G>A|p.Glu320Lys|998/3822|958/1002|320/333|| 22 23503756 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RAB36|RAB36|transcript|NM_004914.2|Coding|11/11|c.*5G>A|||||5| 22 23523139 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.-9G>A|||||9|,A|5_prime_UTR_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.-9G>A|||||9| 22 23523218 . A G . . ANN=G|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.71A>G|p.Glu24Gly|667/6927|71/3816|24/1271||,G|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.71A>G|p.Glu24Gly|667/6795|71/3684|24/1227|| 22 23523219 . G A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.72G>A|p.Glu24Glu|668/6927|72/3816|24/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.72G>A|p.Glu24Glu|668/6795|72/3684|24/1227|| 22 23523309 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.162C>T|p.Phe54Phe|758/6927|162/3816|54/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.162C>T|p.Phe54Phe|758/6795|162/3684|54/1227|| 22 23523540 . C A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.393C>A|p.Ala131Ala|989/6927|393/3816|131/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.393C>A|p.Ala131Ala|989/6795|393/3684|131/1227|| 22 23523550 . G A . . ANN=A|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.403G>A|p.Gly135Arg|999/6927|403/3816|135/1271||,A|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.403G>A|p.Gly135Arg|999/6795|403/3684|135/1227|| 22 23523602 . C T . . ANN=T|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.455C>T|p.Ala152Val|1051/6927|455/3816|152/1271||,T|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.455C>T|p.Ala152Val|1051/6795|455/3684|152/1227|| 22 23523617 . A T . . ANN=T|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.470A>T|p.Asn157Ile|1066/6927|470/3816|157/1271||,T|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.470A>T|p.Asn157Ile|1066/6795|470/3684|157/1227|| 22 23523630 . C A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.483C>A|p.Ile161Ile|1079/6927|483/3816|161/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.483C>A|p.Ile161Ile|1079/6795|483/3684|161/1227|| 22 23523644 . G A . . ANN=A|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.497G>A|p.Gly166Asp|1093/6927|497/3816|166/1271||,A|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.497G>A|p.Gly166Asp|1093/6795|497/3684|166/1227|| 22 23523702 . G C . . ANN=C|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.555G>C|p.Glu185Asp|1151/6927|555/3816|185/1271||,C|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.555G>C|p.Glu185Asp|1151/6795|555/3684|185/1227|| 22 23523753 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.606C>T|p.Ser202Ser|1202/6927|606/3816|202/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.606C>T|p.Ser202Ser|1202/6795|606/3684|202/1227|| 22 23523969 . G A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.822G>A|p.Leu274Leu|1418/6927|822/3816|274/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.822G>A|p.Leu274Leu|1418/6795|822/3684|274/1227|| 22 23523972 . G A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.825G>A|p.Glu275Glu|1421/6927|825/3816|275/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.825G>A|p.Glu275Glu|1421/6795|825/3684|275/1227|| 22 23524052 . C G . . ANN=G|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.905C>G|p.Thr302Ser|1501/6927|905/3816|302/1271||,G|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.905C>G|p.Thr302Ser|1501/6795|905/3684|302/1227|| 22 23524069 . C T . . ANN=T|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.922C>T|p.Arg308Cys|1518/6927|922/3816|308/1271||,T|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.922C>T|p.Arg308Cys|1518/6795|922/3684|308/1227|| 22 23524083 . C A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.936C>A|p.Pro312Pro|1532/6927|936/3816|312/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.936C>A|p.Pro312Pro|1532/6795|936/3684|312/1227|| 22 23524111 . G C . . ANN=C|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.964G>C|p.Glu322Gln|1560/6927|964/3816|322/1271||,C|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.964G>C|p.Glu322Gln|1560/6795|964/3684|322/1227|| 22 23524265 . A G . . ANN=G|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.1118A>G|p.Asn373Ser|1714/6927|1118/3816|373/1271||,G|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.1118A>G|p.Asn373Ser|1714/6795|1118/3684|373/1227|| 22 23524289 . G A . . ANN=A|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.1142G>A|p.Ser381Asn|1738/6927|1142/3816|381/1271||,A|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.1142G>A|p.Ser381Asn|1738/6795|1142/3684|381/1227|| 22 23524386 . C G . . ANN=G|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.1239C>G|p.Ile413Met|1835/6927|1239/3816|413/1271||,G|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.1239C>G|p.Ile413Met|1835/6795|1239/3684|413/1227|| 22 23524402 . G A . . ANN=A|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.1255G>A|p.Glu419Lys|1851/6927|1255/3816|419/1271||,A|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.1255G>A|p.Glu419Lys|1851/6795|1255/3684|419/1227|| 22 23524414 . C T . . ANN=T|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|1/23|c.1267C>T|p.His423Tyr|1863/6927|1267/3816|423/1271||,T|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|1/22|c.1267C>T|p.His423Tyr|1863/6795|1267/3684|423/1227|| 22 23524466 . G T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|1/22|c.1279+40G>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|1/21|c.1279+40G>T|||||| 22 23524470 . AG A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|1/22|c.1279+45delG||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|1/21|c.1279+45delG|||||| 22 23595996 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|2/23|c.1290C>T|p.Phe430Phe|1886/6927|1290/3816|430/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|2/22|c.1290C>T|p.Phe430Phe|1886/6795|1290/3684|430/1227|| 22 23596073 . T C . . ANN=C|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|2/23|c.1367T>C|p.Ile456Thr|1963/6927|1367/3816|456/1271||,C|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|2/22|c.1367T>C|p.Ile456Thr|1963/6795|1367/3684|456/1227|| 22 23596134 . G A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|2/23|c.1428G>A|p.Ala476Ala|2024/6927|1428/3816|476/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|2/22|c.1428G>A|p.Ala476Ala|2024/6795|1428/3684|476/1227|| 22 23596167 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|2/23|c.1461G>A|p.Ala487Ala|2057/6927|1461/3816|487/1271||,A|splice_region_variant&synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|2/22|c.1461G>A|p.Ala487Ala|2057/6795|1461/3684|487/1227|| 22 23603272 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|3/22|c.1566+31G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|3/21|c.1566+31G>A|||||| 22 23603559 . A G . . ANN=G|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|4/23|c.1584A>G|p.Lys528Lys|2180/6927|1584/3816|528/1271||,G|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|4/22|c.1584A>G|p.Lys528Lys|2180/6795|1584/3684|528/1227|| 22 23603684 . A G . . ANN=G|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|4/23|c.1709A>G|p.Gln570Arg|2305/6927|1709/3816|570/1271||,G|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|4/22|c.1709A>G|p.Gln570Arg|2305/6795|1709/3684|570/1227|| 22 23603727 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|4/23|c.1752G>A|p.Leu584Leu|2348/6927|1752/3816|584/1271||,A|splice_region_variant&synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|4/22|c.1752G>A|p.Leu584Leu|2348/6795|1752/3684|584/1227|| 22 23603744 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|4/22|c.1752+17C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|4/21|c.1752+17C>T|||||| 22 23603746 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|4/22|c.1752+19G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|4/21|c.1752+19G>A|||||| 22 23603775 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|4/22|c.1752+48G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|4/21|c.1752+48G>A|||||| 22 23610564 . G GTCCCACTCTCTCTTCCTTCC . . ANN=GTCCCACTCTCTCTTCCTTCC|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|4/22|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC||||||,GTCCCACTCTCTCTTCCTTCC|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|4/21|c.1753-31_1753-30insTCCCACTCTCTCTTCCTTCC|||||| 22 23610624 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|5/23|c.1782C>T|p.Phe594Phe|2378/6927|1782/3816|594/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|5/22|c.1782C>T|p.Phe594Phe|2378/6795|1782/3684|594/1227|| 22 23610645 . C A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|5/23|c.1803C>A|p.Ala601Ala|2399/6927|1803/3816|601/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|5/22|c.1803C>A|p.Ala601Ala|2399/6795|1803/3684|601/1227|| 22 23615254 . C A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|6/22|c.1922-14C>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|6/21|c.1922-14C>A|||||| 22 23615346 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|7/22|c.1974+26G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|7/21|c.1974+26G>A|||||| 22 23615801 . A G . . ANN=G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|7/22|c.1975-20A>G||||||,G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|7/21|c.1975-20A>G|||||| 22 23615940 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|8/23|c.2094C>T|p.Ser698Ser|2690/6927|2094/3816|698/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|8/22|c.2094C>T|p.Ser698Ser|2690/6795|2094/3684|698/1227|| 22 23615946 . G A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|8/23|c.2100G>A|p.Thr700Thr|2696/6927|2100/3816|700/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|8/22|c.2100G>A|p.Thr700Thr|2696/6795|2100/3684|700/1227|| 22 23615971 . G C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|8/22|c.2115+10G>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|8/21|c.2115+10G>C|||||| 22 23615982 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|8/22|c.2115+21C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|8/21|c.2115+21C>T|||||| 22 23626134 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|8/22|c.2116-30C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|8/21|c.2116-30C>T|||||| 22 23626157 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|8/22|c.2116-7C>A||||||,A|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|8/21|c.2116-7C>A|||||| 22 23626202 . G T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|9/23|c.2154G>T|p.Leu718Leu|2750/6927|2154/3816|718/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|9/22|c.2154G>T|p.Leu718Leu|2750/6795|2154/3684|718/1227|| 22 23626230 . G A . . ANN=A|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|9/23|c.2182G>A|p.Val728Ile|2778/6927|2182/3816|728/1271||,A|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|9/22|c.2182G>A|p.Val728Ile|2778/6795|2182/3684|728/1227|| 22 23627171 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|9/22|c.2238-49C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|9/21|c.2238-49C>T|||||| 22 23627173 . T C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|9/22|c.2238-47T>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|9/21|c.2238-47T>C|||||| 22 23627225 . C T . . ANN=T|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|10/23|c.2243C>T|p.Thr748Met|2839/6927|2243/3816|748/1271||,T|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|10/22|c.2243C>T|p.Thr748Met|2839/6795|2243/3684|748/1227|| 22 23627238 . C A . . ANN=A|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|10/23|c.2256C>A|p.Asp752Glu|2852/6927|2256/3816|752/1271||,A|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|10/22|c.2256C>A|p.Asp752Glu|2852/6795|2256/3684|752/1227|| 22 23627249 . A G . . ANN=G|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|10/23|c.2267A>G|p.Tyr756Cys|2863/6927|2267/3816|756/1271||,G|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|10/22|c.2267A>G|p.Tyr756Cys|2863/6795|2267/3684|756/1227|| 22 23627256 . G A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|10/23|c.2274G>A|p.Pro758Pro|2870/6927|2274/3816|758/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|10/22|c.2274G>A|p.Pro758Pro|2870/6795|2274/3684|758/1227|| 22 23627369 . A G . . ANN=G|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|10/23|c.2387A>G|p.Asn796Ser|2983/6927|2387/3816|796/1271||,G|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|10/22|c.2387A>G|p.Asn796Ser|2983/6795|2387/3684|796/1227|| 22 23629306 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|10/22|c.2407-40C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|10/21|c.2407-40C>T|||||| 22 23629372 . G A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|11/23|c.2433G>A|p.Thr811Thr|3029/6927|2433/3816|811/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|11/22|c.2433G>A|p.Thr811Thr|3029/6795|2433/3684|811/1227|| 22 23629472 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|11/22|c.2526+7G>T||||||,T|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|11/21|c.2526+7G>T|||||| 22 23629476 . G C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|11/22|c.2526+11G>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|11/21|c.2526+11G>C|||||| 22 23630236 . C G . . ANN=G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|11/22|c.2527-48C>G||||||,G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|11/21|c.2527-48C>G|||||| 22 23630243 . A G . . ANN=G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|11/22|c.2527-41A>G||||||,G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|11/21|c.2527-41A>G|||||| 22 23630313 . T C . . ANN=C|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|12/23|c.2556T>C|p.Tyr852Tyr|3152/6927|2556/3816|852/1271||,C|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|12/22|c.2556T>C|p.Tyr852Tyr|3152/6795|2556/3684|852/1227|| 22 23630399 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|12/22|c.2602+40C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|12/21|c.2602+40C>T|||||| 22 23631657 . C G . . ANN=G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|12/22|c.2603-47C>G||||||,G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|12/21|c.2603-47C>G|||||| 22 23631801 . T C . . ANN=C|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|13/23|c.2700T>C|p.Asn900Asn|3296/6927|2700/3816|900/1271||,C|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|13/22|c.2700T>C|p.Asn900Asn|3296/6795|2700/3684|900/1227|| 22 23631813 . G GC . . ANN=GC|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|13/22|c.2707+5_2707+6insC||||||,GC|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|13/21|c.2707+5_2707+6insC|||||| 22 23631823 . T C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|13/22|c.2707+15T>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|13/21|c.2707+15T>C|||||| 22 23631855 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|13/22|c.2707+47G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|13/21|c.2707+47G>A|||||| 22 23632513 . A G . . ANN=G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|13/22|c.2708-13A>G||||||,G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|13/21|c.2708-13A>G|||||| 22 23632547 . A G . . ANN=G|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|14/23|c.2729A>G|p.Tyr910Cys|3325/6927|2729/3816|910/1271||,G|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|14/22|c.2729A>G|p.Tyr910Cys|3325/6795|2729/3684|910/1227|| 22 23632621 . G C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|14/22|c.2782+21G>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|14/21|c.2782+21G>C|||||| 22 23632636 . C A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|14/22|c.2782+36C>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|14/21|c.2782+36C>A|||||| 22 23634713 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|14/22|c.2783-15C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|14/21|c.2783-15C>T|||||| 22 23634753 . T C . . ANN=C|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|15/23|c.2808T>C|p.Asp936Asp|3404/6927|2808/3816|936/1271||,C|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|15/22|c.2808T>C|p.Asp936Asp|3404/6795|2808/3684|936/1227|| 22 23634790 . G A . . ANN=A|missense_variant|MODERATE|BCR|BCR|transcript|NM_004327.3|Coding|15/23|c.2845G>A|p.Val949Ile|3441/6927|2845/3816|949/1271||,A|missense_variant|MODERATE|BCR|BCR|transcript|NM_021574.2|Coding|15/22|c.2845G>A|p.Val949Ile|3441/6795|2845/3684|949/1227|| 22 23634822 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|15/23|c.2877C>T|p.Asn959Asn|3473/6927|2877/3816|959/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|15/22|c.2877C>T|p.Asn959Asn|3473/6795|2877/3684|959/1227|| 22 23634851 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|15/22|c.2880+26C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|15/21|c.2880+26C>T|||||| 22 23637186 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|15/22|c.2881-25C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|15/21|c.2880+2361C>T|||||| 22 23637190 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|15/22|c.2881-21C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|15/21|c.2880+2365C>T|||||| 22 23637200 . T C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|15/22|c.2881-11T>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|15/21|c.2880+2375T>C|||||| 22 23637379 . A C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|16/22|c.3012+37A>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|15/21|c.2880+2554A>C|||||| 22 23655217 . T TGAA . . ANN=TGAA|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|20/22|c.3457+9_3457+10insGAA||||||,TGAA|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|19/21|c.3325+9_3325+10insGAA|||||| 22 23656148 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|20/22|c.3458-7T>G||||||,G|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|19/21|c.3326-7T>G|||||| 22 23656199 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|21/23|c.3502C>T|p.Leu1168Leu|4098/6927|3502/3816|1168/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|20/22|c.3370C>T|p.Leu1124Leu|3966/6795|3370/3684|1124/1227|| 22 23656287 . A G . . ANN=G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|21/22|c.3563+27A>G||||||,G|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|20/21|c.3431+27A>G|||||| 22 23656308 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|21/22|c.3563+48G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|20/21|c.3431+48G>A|||||| 22 23656703 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|21/22|c.3564-36C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|20/21|c.3432-36C>T|||||| 22 23656704 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|21/22|c.3564-35G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|20/21|c.3432-35G>A|||||| 22 23656718 . C T . . ANN=T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|21/22|c.3564-21C>T||||||,T|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|20/21|c.3432-21C>T|||||| 22 23656915 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|22/22|c.3726+14G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|21/21|c.3594+14G>A|||||| 22 23657571 . G A . . ANN=A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|22/22|c.3727-49G>A||||||,A|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|21/21|c.3595-49G>A|||||| 22 23657595 . T C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|22/22|c.3727-25T>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|21/21|c.3595-25T>C|||||| 22 23657604 . T C . . ANN=C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|22/22|c.3727-16T>C||||||,C|intron_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|21/21|c.3595-16T>C|||||| 22 23657613 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|22/22|c.3727-7C>T||||||,T|splice_region_variant&intron_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|21/21|c.3595-7C>T|||||| 22 23657664 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|23/23|c.3771C>T|p.Ala1257Ala|4367/6927|3771/3816|1257/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|22/22|c.3639C>T|p.Ala1213Ala|4235/6795|3639/3684|1213/1227|| 22 23657667 . G A . . ANN=A|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|23/23|c.3774G>A|p.Pro1258Pro|4370/6927|3774/3816|1258/1271||,A|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|22/22|c.3642G>A|p.Pro1214Pro|4238/6795|3642/3684|1214/1227|| 22 23657700 . C T . . ANN=T|synonymous_variant|LOW|BCR|BCR|transcript|NM_004327.3|Coding|23/23|c.3807C>T|p.Thr1269Thr|4403/6927|3807/3816|1269/1271||,T|synonymous_variant|LOW|BCR|BCR|transcript|NM_021574.2|Coding|22/22|c.3675C>T|p.Thr1225Thr|4271/6795|3675/3684|1225/1227|| 22 23657722 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|23/23|c.*13A>G|||||13|,G|3_prime_UTR_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|22/22|c.*13A>G|||||13| 22 23657735 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BCR|BCR|transcript|NM_004327.3|Coding|23/23|c.*26G>A|||||26|,A|3_prime_UTR_variant|MODIFIER|BCR|BCR|transcript|NM_021574.2|Coding|22/22|c.*26G>A|||||26| 22 23915429 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_020070.3|Coding|3/3|c.*24A>C|||||24|,G|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|2/2|c.*295A>C|||||295| 22 23915440 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_020070.3|Coding|3/3|c.*13G>C|||||13|,G|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|2/2|c.*284G>C|||||284| 22 23915529 . C T . . ANN=T|missense_variant|MODERATE|IGLL1|IGLL1|transcript|NM_020070.3|Coding|3/3|c.566G>A|p.Arg189His|684/900|566/642|189/213||,T|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|2/2|c.*195G>A|||||195| 22 23915546 . G A . . ANN=A|synonymous_variant|LOW|IGLL1|IGLL1|transcript|NM_020070.3|Coding|3/3|c.549C>T|p.Pro183Pro|667/900|549/642|183/213||,A|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|2/2|c.*178C>T|||||178| 22 23915588 . G A . . ANN=A|synonymous_variant|LOW|IGLL1|IGLL1|transcript|NM_020070.3|Coding|3/3|c.507C>T|p.Ser169Ser|625/900|507/642|169/213||,A|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|2/2|c.*136C>T|||||136| 22 23915652 . G A . . ANN=A|missense_variant|MODERATE|IGLL1|IGLL1|transcript|NM_020070.3|Coding|3/3|c.443C>T|p.Thr148Ile|561/900|443/642|148/213||,A|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|2/2|c.*72C>T|||||72| 22 23915672 . A G . . ANN=G|synonymous_variant|LOW|IGLL1|IGLL1|transcript|NM_020070.3|Coding|3/3|c.423T>C|p.Tyr141Tyr|541/900|423/642|141/213||,G|3_prime_UTR_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|2/2|c.*52T>C|||||52| 22 23917123 . T A . . ANN=A|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_020070.3|Coding|2/2|c.322+31A>T||||||,A|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/1|c.207-1351A>T|||||| 22 23917167 . C T . . ANN=T|synonymous_variant|LOW|IGLL1|IGLL1|transcript|NM_020070.3|Coding|2/3|c.309G>A|p.Gln103Gln|427/900|309/642|103/213||,T|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/1|c.207-1395G>A|||||| 22 23917176 . G A . . ANN=A|synonymous_variant|LOW|IGLL1|IGLL1|transcript|NM_020070.3|Coding|2/3|c.300C>T|p.Ser100Ser|418/900|300/642|100/213||,A|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/1|c.207-1404C>T|||||| 22 23917217 . AC A . . ANN=A|frameshift_variant|HIGH|IGLL1|IGLL1|transcript|NM_020070.3|Coding|2/3|c.258delG|p.Gly86fs|376/900|258/642|86/213||,A|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/1|c.207-1446delG||||||;LOF=(IGLL1|IGLL1|2|0.50) 22 23917253 . C T . . ANN=T|missense_variant|MODERATE|IGLL1|IGLL1|transcript|NM_020070.3|Coding|2/3|c.223G>A|p.Gly75Ser|341/900|223/642|75/213||,T|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/1|c.207-1481G>A|||||| 22 23917281 . G T . . ANN=T|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_020070.3|Coding|1/2|c.207-12C>A||||||,T|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/1|c.207-1509C>A|||||| 22 23922138 . A AC . . ANN=AC|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_020070.3|Coding|1/2|c.206+33_206+34insG||||||,AC|intron_variant|MODIFIER|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/1|c.206+33_206+34insG|||||| 22 23922276 . T C . . ANN=C|synonymous_variant|LOW|IGLL1|IGLL1|transcript|NM_020070.3|Coding|1/3|c.102A>G|p.Val34Val|220/900|102/642|34/213||,C|synonymous_variant|LOW|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/2|c.102A>G|p.Val34Val|220/784|102/255|34/84|| 22 23922281 . C T . . ANN=T|missense_variant|MODERATE|IGLL1|IGLL1|transcript|NM_020070.3|Coding|1/3|c.97G>A|p.Val33Met|215/900|97/642|33/213||,T|missense_variant|MODERATE|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/2|c.97G>A|p.Val33Met|215/784|97/255|33/84|| 22 23922311 . G A . . ANN=A|missense_variant|MODERATE|IGLL1|IGLL1|transcript|NM_020070.3|Coding|1/3|c.67C>T|p.Arg23Cys|185/900|67/642|23/213||,A|missense_variant|MODERATE|IGLL1|IGLL1|transcript|NM_152855.2|Coding|1/2|c.67C>T|p.Arg23Cys|185/784|67/255|23/84|| 22 23955464 . G A . . ANN=A|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|11/11|c.685+12C>T|||||| 22 23955509 . G C . . ANN=C|missense_variant|MODERATE|DRICH1|DRICH1|transcript|NM_016449.3|Coding|11/12|c.652C>G|p.Leu218Val|950/1300|652/690|218/229|| 22 23955561 . C T . . ANN=T|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|10/11|c.644-44G>A|||||| 22 23955797 . C T . . ANN=T|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|10/11|c.643+29G>A|||||| 22 23955895 . C T . . ANN=T|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|9/11|c.622-48G>A|||||| 22 23956322 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|DRICH1|DRICH1|transcript|NM_016449.3|Coding|9/12|c.621C>T|p.His207His|919/1300|621/690|207/229|| 22 23956340 . T A . . ANN=A|missense_variant|MODERATE|DRICH1|DRICH1|transcript|NM_016449.3|Coding|9/12|c.603A>T|p.Glu201Asp|901/1300|603/690|201/229|| 22 23956437 . G C . . ANN=C|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|8/11|c.542-36C>G|||||| 22 23956448 . C G . . ANN=G|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|8/11|c.542-47G>C|||||| 22 23959054 . G A . . ANN=A|missense_variant|MODERATE|DRICH1|DRICH1|transcript|NM_016449.3|Coding|8/12|c.527C>T|p.Pro176Leu|825/1300|527/690|176/229|| 22 23959878 . GT G . . ANN=G|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|6/11|c.437-35delA|||||| 22 23961519 . C T . . ANN=T|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|6/11|c.436+32G>A|||||| 22 23961521 . C A . . ANN=A|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|6/11|c.436+30G>T|||||| 22 23961522 . AATACT A . . ANN=A|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|6/11|c.436+24_436+28delAGTAT|||||| 22 23961597 . A G . . ANN=G|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|5/11|c.407-17T>C|||||| 22 23962744 . T TTTC . . ANN=TTTC|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|5/11|c.406+36_406+37insGAA|||||| 22 23962789 . C T . . ANN=T|missense_variant|MODERATE|DRICH1|DRICH1|transcript|NM_016449.3|Coding|5/12|c.398G>A|p.Arg133His|696/1300|398/690|133/229|| 22 23962809 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|DRICH1|DRICH1|transcript|NM_016449.3|Coding|4/11|c.385-7G>A|||||| 22 23964272 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|DRICH1|DRICH1|transcript|NM_016449.3|Coding|4/11|c.384+6A>G|||||| 22 23964335 . T C . . ANN=C|synonymous_variant|LOW|DRICH1|DRICH1|transcript|NM_016449.3|Coding|4/12|c.327A>G|p.Val109Val|625/1300|327/690|109/229|| 22 23967056 . T C . . ANN=C|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|3/11|c.298+14A>G|||||| 22 23967068 . A G . . ANN=G|splice_donor_variant&intron_variant|HIGH|DRICH1|DRICH1|transcript|NM_016449.3|Coding|3/11|c.298+2T>C||||||;LOF=(DRICH1|DRICH1|1|1.00) 22 23967074 . G A . . ANN=A|synonymous_variant|LOW|DRICH1|DRICH1|transcript|NM_016449.3|Coding|3/12|c.294C>T|p.Val98Val|592/1300|294/690|98/229|| 22 23967105 . AAAG A . . ANN=A|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|2/11|c.277-17_277-15delCTT|||||| 22 23968141 . T C . . ANN=C|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|2/11|c.276+27A>G|||||| 22 23973974 . AG A . . ANN=A|intron_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|1/11|c.208+28delC|||||| 22 23973994 . C CT . . ANN=CT|splice_region_variant&intron_variant|LOW|DRICH1|DRICH1|transcript|NM_016449.3|Coding|1/11|c.208+8_208+9insA|||||| 22 23974182 . T C . . ANN=C|missense_variant|MODERATE|DRICH1|DRICH1|transcript|NM_016449.3|Coding|1/12|c.29A>G|p.Asn10Ser|327/1300|29/690|10/229|| 22 23974200 . A G . . ANN=G|missense_variant|MODERATE|DRICH1|DRICH1|transcript|NM_016449.3|Coding|1/12|c.11T>C|p.Ile4Thr|309/1300|11/690|4/229|| 22 23974244 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|DRICH1|DRICH1|transcript|NM_016449.3|Coding|1/12|c.-34C>T||||||,A|5_prime_UTR_variant|MODIFIER|DRICH1|DRICH1|transcript|NM_016449.3|Coding|1/12|c.-34C>T|||||34| 22 24034244 . T C . . ANN=C|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.27T>C|p.Pro9Pro|1197/2885|27/1422|9/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1701A>G|||||| 22 24034288 . A G . . ANN=G|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.71A>G|p.Gln24Arg|1241/2885|71/1422|24/473||,G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1745T>C|||||| 22 24034292 . C T . . ANN=T|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.75C>T|p.Gly25Gly|1245/2885|75/1422|25/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1749G>A|||||| 22 24034299 . G A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.82G>A|p.Glu28Lys|1252/2885|82/1422|28/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1756C>T|||||| 22 24034304 . G C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.87G>C|p.Glu29Asp|1257/2885|87/1422|29/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1761C>G|||||| 22 24034322 . A G . . ANN=G|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.105A>G|p.Pro35Pro|1275/2885|105/1422|35/473||,G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1779T>C|||||| 22 24034326 . C T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.109C>T|p.Arg37Cys|1279/2885|109/1422|37/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1783G>A|||||| 22 24034330 . C T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.113C>T|p.Thr38Met|1283/2885|113/1422|38/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1787G>A|||||| 22 24034331 . G A . . ANN=A|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.114G>A|p.Thr38Thr|1284/2885|114/1422|38/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1788C>T|||||| 22 24034353 . T C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|1/11|c.136T>C|p.Tyr46His|1306/2885|136/1422|46/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2562-1810A>G|||||| 22 24034545 . A G . . ANN=G|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|2/11|c.203A>G|p.Asn68Ser|1373/2885|203/1422|68/473||,G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1761T>C|||||| 22 24034573 . C T . . ANN=T|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|2/11|c.231C>T|p.Tyr77Tyr|1401/2885|231/1422|77/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1733G>A|||||| 22 24034574 . T C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|2/11|c.232T>C|p.Tyr78His|1402/2885|232/1422|78/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1732A>G|||||| 22 24034602 . G A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|2/11|c.260G>A|p.Arg87Gln|1430/2885|260/1422|87/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1704C>T|||||| 22 24034628 . T A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|2/11|c.286T>A|p.Ser96Thr|1456/2885|286/1422|96/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1678A>T|||||| 22 24034671 . T C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|2/11|c.329T>C|p.Leu110Pro|1499/2885|329/1422|110/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1635A>G|||||| 22 24034706 . A G . . ANN=G|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|2/11|c.364A>G|p.Lys122Glu|1534/2885|364/1422|122/473||,G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1600T>C|||||| 22 24034747 . G A . . ANN=A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1559C>T||||||,A|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|2/10|c.373+32G>A|||||| 22 24034868 . G A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.386G>A|p.Arg129His|1556/2885|386/1422|129/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1438C>T|||||| 22 24034881 . C A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.399C>A|p.His133Gln|1569/2885|399/1422|133/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1425G>T|||||| 22 24034896 . G A . . ANN=A|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.414G>A|p.Pro138Pro|1584/2885|414/1422|138/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1410C>T|||||| 22 24034912 . C T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.430C>T|p.Pro144Ser|1600/2885|430/1422|144/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1394G>A|||||| 22 24034939 . G C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.457G>C|p.Ala153Pro|1627/2885|457/1422|153/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1367C>G|||||| 22 24034948 . C A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.466C>A|p.Pro156Thr|1636/2885|466/1422|156/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1358G>T|||||| 22 24034949 . C A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.467C>A|p.Pro156Gln|1637/2885|467/1422|156/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1357G>T|||||| 22 24034989 . T C . . ANN=C|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.507T>C|p.His169His|1677/2885|507/1422|169/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1317A>G|||||| 22 24035001 . G GCCAGCACCAGCA . . ANN=CACCAGCACCAG|disruptive_inframe_insertion|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.524_535dupCACCAGCACCAG|p.Ala175_Pro178dup|1706/2885|536/1422|179/473||INFO_REALIGN_3_PRIME,GCCAGCACCAGCA|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1293_2561+1304dupTGCTGGTGCTGG|||||| 22 24035085 . T C . . ANN=C|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.603T>C|p.Arg201Arg|1773/2885|603/1422|201/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1221A>G|||||| 22 24035129 . C T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.647C>T|p.Thr216Met|1817/2885|647/1422|216/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1177G>A|||||| 22 24035130 . G C . . ANN=C|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.648G>C|p.Thr216Thr|1818/2885|648/1422|216/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1176C>G|||||| 22 24035177 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|3/11|c.695C>T|p.Ala232Val|1865/2885|695/1422|232/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1129G>A|||||| 22 24035215 . C A . . ANN=A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+1091G>T||||||,A|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|3/10|c.696+37C>A|||||| 22 24035907 . A G . . ANN=G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+399T>C||||||,G|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|3/10|c.697-39A>G|||||| 22 24035970 . C T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|4/11|c.721C>T|p.His241Tyr|1891/2885|721/1422|241/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+336G>A|||||| 22 24036000 . G C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|4/11|c.751G>C|p.Gly251Arg|1921/2885|751/1422|251/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+306C>G|||||| 22 24036013 . G A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|4/11|c.764G>A|p.Gly255Glu|1934/2885|764/1422|255/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+293C>T|||||| 22 24036040 . G A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|4/11|c.791G>A|p.Arg264His|1961/2885|791/1422|264/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+266C>T|||||| 22 24036111 . A C . . ANN=C|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|4/11|c.862A>C|p.Arg288Arg|2032/2885|862/1422|288/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+195T>G|||||| 22 24036138 . G A . . ANN=A|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|4/11|c.889G>A|p.Glu297Lys|2059/2885|889/1422|297/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+168C>T|||||| 22 24036155 . G A . . ANN=A|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|4/11|c.906G>A|p.Val302Val|2076/2885|906/1422|302/473||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+151C>T|||||| 22 24036186 . T C . . ANN=C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+120A>G||||||,C|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|4/10|c.912+25T>C|||||| 22 24036204 . G A . . ANN=A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/11|n.2561+102C>T||||||,A|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|4/10|c.912+43G>A|||||| 22 24036563 . G A . . ANN=A|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|5/11|c.942G>A|p.Ser314Ser|2112/2885|942/1422|314/473||,A|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.2304C>T|||||| 22 24036575 . C T . . ANN=T|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|5/11|c.954C>T|p.Ile318Ile|2124/2885|954/1422|318/473||,T|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.2292G>A|||||| 22 24036657 . T C . . ANN=C|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|5/10|c.1016+20T>C||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.2210A>G|||||| 22 24037094 . CCT C . . ANN=C|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|5/10|c.1017-42_1017-41delCT||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.1771_1772delAG|||||| 22 24037096 . T C . . ANN=C|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|5/10|c.1017-41T>C||||||,C|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.1771A>G|||||| 22 24037130 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|5/10|c.1017-7C>T||||||,T|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.1737G>A|||||| 22 24037150 . G C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|6/11|c.1030G>C|p.Glu344Gln|2200/2885|1030/1422|344/473||,C|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.1717C>G|||||| 22 24037178 . C T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|6/11|c.1058C>T|p.Thr353Ile|2228/2885|1058/1422|353/473||,T|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.1689G>A|||||| 22 24037193 . A T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|6/11|c.1073A>T|p.Asp358Val|2243/2885|1073/1422|358/473||,T|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.1674T>A|||||| 22 24037199 . T G . . ANN=G|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|6/11|c.1079T>G|p.Leu360Arg|2249/2885|1079/1422|360/473||,G|non_coding_exon_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|8/12|n.1668A>C|||||| 22 24038779 . C A . . ANN=A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1075G>T||||||,A|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|6/10|c.1087-22C>A|||||| 22 24038780 . C T . . ANN=T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1076G>A||||||,T|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|6/10|c.1087-21C>T|||||| 22 24038781 . C T . . ANN=T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1077G>A||||||,T|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|6/10|c.1087-20C>T|||||| 22 24038786 . G A . . ANN=A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1082C>T||||||,A|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|6/10|c.1087-15G>A|||||| 22 24038809 . C T . . ANN=T|synonymous_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|7/11|c.1095C>T|p.Ser365Ser|2265/2885|1095/1422|365/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1105G>A|||||| 22 24038835 . A ACC . . ANN=CC|frameshift_variant|HIGH|RGL4|RGL4|transcript|NM_153615.1|Coding|7/11|c.1125_1126dupCC|p.Gln376fs|2297/2885|1127/1422|376/473||INFO_REALIGN_3_PRIME,ACC|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1133_1163-1132dupGG||||||;LOF=(RGL4|RGL4|1|1.00) 22 24038847 . T C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|7/11|c.1133T>C|p.Val378Ala|2303/2885|1133/1422|378/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1143A>G|||||| 22 24038894 . T G . . ANN=G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1190A>C||||||,G|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|7/10|c.1161+19T>G|||||| 22 24039351 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|7/10|c.1162-7G>A||||||,A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1647C>T|||||| 22 24039353 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RGL4|RGL4|transcript|NM_153615.1|Coding|7/10|c.1162-5C>T||||||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1649G>A|||||| 22 24039380 . A T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|8/11|c.1184A>T|p.Asp395Val|2354/2885|1184/1422|395/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1676T>A|||||| 22 24039410 . C T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|8/11|c.1214C>T|p.Ser405Leu|2384/2885|1214/1422|405/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-1706G>A|||||| 22 24040008 . C T . . ANN=T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-2304G>A||||||,T|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|8/10|c.1237-17C>T|||||| 22 24040070 . G A . . ANN=A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1163-2366C>T||||||,A|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|9/10|c.1260+22G>A|||||| 22 24040405 . C G . . ANN=G|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|10/11|c.1267C>G|p.Arg423Gly|2437/2885|1267/1422|423/473||,G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1162+2508G>C|||||| 22 24040475 . T C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|10/11|c.1337T>C|p.Phe446Ser|2507/2885|1337/1422|446/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1162+2438A>G|||||| 22 24040507 . A G . . ANN=G|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|10/11|c.1369A>G|p.Ser457Gly|2539/2885|1369/1422|457/473||,G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1162+2406T>C|||||| 22 24040545 . G A . . ANN=A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1162+2368C>T||||||,A|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|10/10|c.1382+25G>A|||||| 22 24041012 . C A . . ANN=A|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1162+1901G>T||||||,A|intron_variant|MODIFIER|RGL4|RGL4|transcript|NM_153615.1|Coding|10/10|c.1383-19C>A|||||| 22 24041036 . A C . . ANN=C|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|11/11|c.1388A>C|p.Lys463Thr|2558/2885|1388/1422|463/473||,C|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1162+1877T>G|||||| 22 24041056 . C T . . ANN=T|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|11/11|c.1408C>T|p.Pro470Ser|2578/2885|1408/1422|470/473||,T|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1162+1857G>A|||||| 22 24041062 . A G . . ANN=G|missense_variant|MODERATE|RGL4|RGL4|transcript|NM_153615.1|Coding|11/11|c.1414A>G|p.Asn472Asp|2584/2885|1414/1422|472/473||,G|intron_variant|MODIFIER|GUSBP11|GUSBP11|transcript|NR_024448.2|Noncoding|7/11|n.1162+1851T>C|||||| 22 24085976 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.*11C>G|||||11| 22 24085990 . T C . . ANN=C|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.1338A>G|p.Leu446Leu|1799/4017|1338/1341|446/446|| 22 24086026 . C T . . ANN=T|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.1302G>A|p.Leu434Leu|1763/4017|1302/1341|434/446|| 22 24086055 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.1273G>A|p.Gly425Ser|1734/4017|1273/1341|425/446|| 22 24086107 . A G . . ANN=G|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.1221T>C|p.Ile407Ile|1682/4017|1221/1341|407/446|| 22 24086195 . G A . . ANN=A|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.1133C>T|p.Ala378Val|1594/4017|1133/1341|378/446|| 22 24086257 . G T . . ANN=T|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.1071C>A|p.Ile357Ile|1532/4017|1071/1341|357/446|| 22 24086348 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.980G>A|p.Arg327His|1441/4017|980/1341|327/446|| 22 24086454 . T G . . ANN=G|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.874A>C|p.Arg292Arg|1335/4017|874/1341|292/446|| 22 24086640 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.688G>A|p.Gly230Arg|1149/4017|688/1341|230/446|| 22 24086754 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.574G>A|p.Gly192Arg|1035/4017|574/1341|192/446|| 22 24086859 . G A . . ANN=A|stop_gained|HIGH|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.469C>T|p.Arg157*|930/4017|469/1341|157/446|| 22 24086905 . C T . . ANN=T|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.423G>A|p.Ala141Ala|884/4017|423/1341|141/446|| 22 24086939 . G T . . ANN=T|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.389C>A|p.Pro130His|850/4017|389/1341|130/446|| 22 24086944 . G A . . ANN=A|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.384C>T|p.Asn128Asn|845/4017|384/1341|128/446|| 22 24087013 . C T . . ANN=T|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.315G>A|p.Gln105Gln|776/4017|315/1341|105/446|| 22 24087030 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.298G>A|p.Asp100Asn|759/4017|298/1341|100/446|| 22 24087115 . T C . . ANN=C|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.213A>G|p.Ser71Ser|674/4017|213/1341|71/446|| 22 24087118 . G A . . ANN=A|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.210C>T|p.Cys70Cys|671/4017|210/1341|70/446|| 22 24087185 . T C . . ANN=C|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.143A>G|p.Tyr48Cys|604/4017|143/1341|48/446|| 22 24087231 . C T . . ANN=T|missense_variant|MODERATE|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.97G>A|p.Asp33Asn|558/4017|97/1341|33/446|| 22 24087235 . C T . . ANN=T|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.93G>A|p.Leu31Leu|554/4017|93/1341|31/446|| 22 24087319 . A C . . ANN=C|synonymous_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.9T>G|p.Val3Val|470/4017|9/1341|3/446|| 22 24087341 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.-14A>G|||||14| 22 24087350 . A G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.-23T>C||||||,G|5_prime_UTR_variant|MODIFIER|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.-23T>C|||||23| 22 24087363 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|ZNF70|ZNF70|transcript|NM_021916.2|Coding|2/2|c.-36A>G|||||36| 22 24095103 . G A . . ANN=A|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.332C>T|p.Ala111Val|412/585|332/372|111/123|| 22 24095119 . G A . . ANN=A|stop_gained|HIGH|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.316C>T|p.Gln106*|396/585|316/372|106/123|| 22 24095127 . C G . . ANN=G|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.308G>C|p.Ser103Thr|388/585|308/372|103/123|| 22 24095199 . C T . . ANN=T|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.236G>A|p.Arg79Gln|316/585|236/372|79/123|| 22 24095221 . G A . . ANN=A|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.214C>T|p.Arg72Cys|294/585|214/372|72/123|| 22 24095278 . C T . . ANN=T|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.157G>A|p.Gly53Ser|237/585|157/372|53/123|| 22 24095296 . C T . . ANN=T|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.139G>A|p.Val47Ile|219/585|139/372|47/123|| 22 24095313 . G T . . ANN=T|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.122C>A|p.Thr41Lys|202/585|122/372|41/123|| 22 24095337 . C T . . ANN=T|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.98G>A|p.Gly33Asp|178/585|98/372|33/123|| 22 24095350 . G T . . ANN=T|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.85C>A|p.Leu29Met|165/585|85/372|29/123|| 22 24095351 . C T . . ANN=T|synonymous_variant|LOW|VPREB3|VPREB3|transcript|NM_013378.2|Coding|2/2|c.84G>A|p.Leu28Leu|164/585|84/372|28/123|| 22 24095406 . C G . . ANN=G|intron_variant|MODIFIER|VPREB3|VPREB3|transcript|NM_013378.2|Coding|1/1|c.50-21G>C|||||| 22 24096464 . C T . . ANN=T|intron_variant|MODIFIER|VPREB3|VPREB3|transcript|NM_013378.2|Coding|1/1|c.49+38G>A|||||| 22 24096541 . G A . . ANN=A|missense_variant|MODERATE|VPREB3|VPREB3|transcript|NM_013378.2|Coding|1/2|c.10C>T|p.Arg4Trp|90/585|10/372|4/123|| 22 24096578 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|VPREB3|VPREB3|transcript|NM_013378.2|Coding|1/2|c.-28C>T|||||28| 22 24106795 . GTGTCCTTCATCGTC G . . ANN=G|intron_variant|MODIFIER|C22orf15|C22orf15|transcript|NM_182520.2|Coding|3/5|c.251-30_251-17delTGTCCTTCATCGTC|||||| 22 24106989 . G A . . ANN=A|missense_variant|MODERATE|C22orf15|C22orf15|transcript|NM_182520.2|Coding|5/6|c.335G>A|p.Arg112His|621/864|335/447|112/148|| 22 24107034 . G A . . ANN=A|missense_variant|MODERATE|C22orf15|C22orf15|transcript|NM_182520.2|Coding|5/6|c.380G>A|p.Arg127His|666/864|380/447|127/148|| 22 24108183 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|4/4|c.*11G>A|||||11|,T|3_prime_UTR_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|4/4|c.*11G>A|||||11|,T|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|4/4|n.485G>A||||||,T|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|3/3|n.318G>A|||||| 22 24108238 . C T . . ANN=T|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|3/3|c.431-25G>A||||||,T|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|3/3|c.410-25G>A||||||,T|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|3/3|n.455-25G>A||||||,T|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|2/2|n.288-25G>A|||||| 22 24108282 . C T . . ANN=T|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|3/3|c.430+33G>A||||||,T|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|3/3|c.409+33G>A||||||,T|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|3/3|n.454+33G>A||||||,T|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|2/2|n.287+33G>A|||||| 22 24108288 . C G . . ANN=G|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|3/3|c.430+27G>C||||||,G|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|3/3|c.409+27G>C||||||,G|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|3/3|n.454+27G>C||||||,G|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|2/2|n.287+27G>C|||||| 22 24108303 . C A . . ANN=A|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|3/3|c.430+12G>T||||||,A|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|3/3|c.409+12G>T||||||,A|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|3/3|n.454+12G>T||||||,A|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|2/2|n.287+12G>T|||||| 22 24108394 . C T . . ANN=T|synonymous_variant|LOW|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|3/4|c.351G>A|p.Leu117Leu|449/721|351/450|117/149||,T|synonymous_variant|LOW|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|3/4|c.330G>A|p.Leu110Leu|428/700|330/429|110/142||,T|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|3/4|n.375G>A||||||,T|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|2/3|n.208G>A|||||| 22 24108412 . G A . . ANN=A|synonymous_variant|LOW|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|3/4|c.333C>T|p.Tyr111Tyr|431/721|333/450|111/149||,A|synonymous_variant|LOW|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|3/4|c.312C>T|p.Tyr104Tyr|410/700|312/429|104/142||,A|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|3/4|n.357C>T||||||,A|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|2/3|n.190C>T|||||| 22 24108438 . G T . . ANN=T|missense_variant|MODERATE|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|3/4|c.307C>A|p.Pro103Thr|405/721|307/450|103/149||,T|missense_variant|MODERATE|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|3/4|c.286C>A|p.Pro96Thr|384/700|286/429|96/142||,T|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|3/4|n.331C>A||||||,T|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|2/3|n.164C>A|||||| 22 24109550 . T C . . ANN=C|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|2/3|c.261+11A>G||||||,C|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|2/3|c.261+11A>G||||||,C|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|2/3|n.306+11A>G||||||,C|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|1/2|n.139+471A>G|||||| 22 24109633 . G A . . ANN=A|synonymous_variant|LOW|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|2/4|c.189C>T|p.His63His|287/721|189/450|63/149||,A|synonymous_variant|LOW|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|2/4|c.189C>T|p.His63His|287/700|189/429|63/142||,A|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|1/2|n.139+388C>T||||||,A|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|2/4|n.234C>T|||||| 22 24109686 . C A . . ANN=A|missense_variant|MODERATE|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|2/4|c.136G>T|p.Ala46Ser|234/721|136/450|46/149||,A|missense_variant|MODERATE|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|2/4|c.136G>T|p.Ala46Ser|234/700|136/429|46/142||,A|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|1/2|n.139+335G>T||||||,A|non_coding_exon_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|2/4|n.181G>T|||||| 22 24109975 . A C . . ANN=C|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_001301339.1|Coding|1/3|c.41+46T>G||||||,C|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NM_213720.2|Coding|1/3|c.41+46T>G||||||,C|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125755.1|Noncoding|1/3|n.139+46T>G||||||,C|intron_variant|MODIFIER|CHCHD10|CHCHD10|transcript|NR_125756.1|Noncoding|1/2|n.139+46T>G|||||| 22 24121378 . C T . . ANN=T|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|2/8|c.113C>T|p.Ala38Val|135/2261|113/1467|38/488|| 22 24121395 . G A . . ANN=A|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|2/8|c.130G>A|p.Glu44Lys|152/2261|130/1467|44/488|| 22 24121441 . C T . . ANN=T|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|2/8|c.176C>T|p.Pro59Leu|198/2261|176/1467|59/488|| 22 24121447 . C T . . ANN=T|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|2/8|c.182C>T|p.Pro61Leu|204/2261|182/1467|61/488|| 22 24121459 . C T . . ANN=T|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|2/8|c.194C>T|p.Thr65Met|216/2261|194/1467|65/488|| 22 24121521 . T C . . ANN=C|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|2/8|c.256T>C|p.Ser86Pro|278/2261|256/1467|86/488|| 22 24121539 . C T . . ANN=T|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|2/8|c.274C>T|p.Arg92Cys|296/2261|274/1467|92/488|| 22 24121571 . C T . . ANN=T|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|2/8|c.306C>T|p.Gly102Gly|328/2261|306/1467|102/488|| 22 24121626 . C T . . ANN=T|intron_variant|MODIFIER|MMP11|MMP11|transcript|NM_005940.3|Coding|2/7|c.338+23C>T|||||| 22 24122499 . G A . . ANN=A|intron_variant|MODIFIER|MMP11|MMP11|transcript|NM_005940.3|Coding|2/7|c.339-47G>A|||||| 22 24122582 . G C . . ANN=C|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|3/8|c.375G>C|p.Gln125His|397/2261|375/1467|125/488|| 22 24122653 . A C . . ANN=C|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|3/8|c.446A>C|p.His149Pro|468/2261|446/1467|149/488|| 22 24122750 . C T . . ANN=T|intron_variant|MODIFIER|MMP11|MMP11|transcript|NM_005940.3|Coding|3/7|c.483-19C>T|||||| 22 24122877 . G A . . ANN=A|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|4/8|c.591G>A|p.Glu197Glu|613/2261|591/1467|197/488|| 22 24123011 . G A . . ANN=A|intron_variant|MODIFIER|MMP11|MMP11|transcript|NM_005940.3|Coding|4/7|c.617-35G>A|||||| 22 24123185 . C T . . ANN=T|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|5/8|c.756C>T|p.Gly252Gly|778/2261|756/1467|252/488|| 22 24123376 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|5/7|c.859-4C>A|||||| 22 24123521 . C T . . ANN=T|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|6/8|c.1000C>T|p.Arg334Cys|1022/2261|1000/1467|334/488|| 22 24123563 . G C . . ANN=C|missense_variant|MODERATE|MMP11|MMP11|transcript|NM_005940.3|Coding|6/8|c.1042G>C|p.Glu348Gln|1064/2261|1042/1467|348/488|| 22 24123621 . C G . . ANN=G|intron_variant|MODIFIER|MMP11|MMP11|transcript|NM_005940.3|Coding|6/7|c.1075+25C>G|||||| 22 24124459 . C T . . ANN=T|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|7/8|c.1122C>T|p.Pro374Pro|1144/2261|1122/1467|374/488|| 22 24124468 . C T . . ANN=T|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|7/8|c.1131C>T|p.Leu377Leu|1153/2261|1131/1467|377/488|| 22 24124471 . C A . . ANN=A|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|7/8|c.1134C>A|p.Thr378Thr|1156/2261|1134/1467|378/488|| 22 24124492 . C T . . ANN=T|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|7/8|c.1155C>T|p.Phe385Phe|1177/2261|1155/1467|385/488|| 22 24125565 . G A . . ANN=A|intron_variant|MODIFIER|MMP11|MMP11|transcript|NM_005940.3|Coding|7/7|c.1334-33G>A|||||| 22 24125617 . C T . . ANN=T|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|8/8|c.1353C>T|p.Arg451Arg|1375/2261|1353/1467|451/488|| 22 24125689 . T C . . ANN=C|synonymous_variant|LOW|MMP11|MMP11|transcript|NM_005940.3|Coding|8/8|c.1425T>C|p.Pro475Pro|1447/2261|1425/1467|475/488|| 22 24129326 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|1/9|c.-31C>T|||||31|,T|5_prime_UTR_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|1/9|c.-31C>T|||||31| 22 24129493 . G C . . ANN=C|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|1/8|c.93+44G>C||||||,C|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|1/8|c.93+44G>C|||||| 22 24133903 . G A . . ANN=A|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|1/8|c.94-40G>A||||||,A|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|1/8|c.94-40G>A|||||| 22 24135703 . A T . . ANN=T|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|2/8|c.233-43A>T||||||,T|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|2/8|c.206-43A>T|||||| 22 24135722 . C G . . ANN=G|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|2/8|c.233-24C>G||||||,G|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|2/8|c.206-24C>G|||||| 22 24135750 . C T . . ANN=T|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|3/9|c.237C>T|p.His79His|444/1703|237/1158|79/385||,T|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|3/9|c.210C>T|p.His70His|417/1676|210/1131|70/376|| 22 24135882 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|3/8|c.362+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|3/8|c.335+7C>T|||||| 22 24135917 . G T . . ANN=T|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|3/8|c.362+42G>T||||||,T|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|3/8|c.335+42G>T|||||| 22 24143185 . C G . . ANN=G|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|4/9|c.417C>G|p.Ser139Ser|624/1703|417/1158|139/385||,G|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|4/9|c.390C>G|p.Ser130Ser|597/1676|390/1131|130/376|| 22 24143206 . A G . . ANN=G|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|4/9|c.438A>G|p.Pro146Pro|645/1703|438/1158|146/385||,G|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|4/9|c.411A>G|p.Pro137Pro|618/1676|411/1131|137/376|| 22 24145459 . T G . . ANN=G|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|4/8|c.501-23T>G||||||,G|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|4/8|c.474-23T>G|||||| 22 24145622 . C T . . ANN=T|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|5/8|c.628+13C>T||||||,T|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|5/8|c.601+13C>T|||||| 22 24158908 . C G . . ANN=G|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|5/8|c.629-49C>G||||||,G|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|5/8|c.602-49C>G|||||| 22 24158936 . C A . . ANN=A|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|5/8|c.629-21C>A||||||,A|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|5/8|c.602-21C>A|||||| 22 24167513 . G A . . ANN=A|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|7/9|c.897G>A|p.Ser299Ser|1104/1703|897/1158|299/385||,A|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|7/9|c.870G>A|p.Ser290Ser|1077/1676|870/1131|290/376|| 22 24167594 . C T . . ANN=T|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|7/9|c.978C>T|p.Tyr326Tyr|1185/1703|978/1158|326/385||,T|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|7/9|c.951C>T|p.Tyr317Tyr|1158/1676|951/1131|317/376|| 22 24175746 . C T . . ANN=T|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|7/8|c.987-13C>T||||||,T|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|7/8|c.960-13C>T|||||| 22 24175759 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|8/9|c.987C>T|p.Ser329Ser|1194/1703|987/1158|329/385||,T|splice_region_variant&synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|8/9|c.960C>T|p.Ser320Ser|1167/1676|960/1131|320/376|| 22 24175888 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|8/9|c.1116G>A|p.Thr372Thr|1323/1703|1116/1158|372/385||,A|splice_region_variant&synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|8/9|c.1089G>A|p.Thr363Thr|1296/1676|1089/1131|363/376|| 22 24176287 . G A . . ANN=A|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|8/8|c.1119-41G>A||||||,A|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|8/8|c.1092-41G>A|||||| 22 24176298 . G A . . ANN=A|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|8/8|c.1119-30G>A||||||,A|intron_variant|MODIFIER|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|8/8|c.1092-30G>A|||||| 22 24176340 . T C . . ANN=C|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_003073.3|Coding|9/9|c.1131T>C|p.Arg377Arg|1338/1703|1131/1158|377/385||,C|synonymous_variant|LOW|SMARCB1|SMARCB1|transcript|NM_001007468.1|Coding|9/9|c.1104T>C|p.Arg368Arg|1311/1676|1104/1131|368/376|| 22 24177094 . C T . . ANN=T|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001135751.1|Coding|7/7|c.640G>A|p.Ala214Thr|665/1069|640/720|214/239||,T|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|7/7|c.*1962G>A|||||1962|,T|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.*2153G>A|||||2153| 22 24179010 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|7/7|c.*46C>T|||||46|,A|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.*237C>T|||||237|,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|6/6|c.614+241C>T|||||| 22 24179038 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|7/7|c.*18G>A|||||18|,T|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.*209G>A|||||209|,T|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|6/6|c.614+213G>A|||||| 22 24179051 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|7/7|c.*5C>T|||||5|,A|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.*196C>T|||||196|,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|6/6|c.614+200C>T|||||| 22 24179066 . G A . . ANN=A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|7/7|c.698C>T|p.Pro233Leu|723/3099|698/708|233/235||,A|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.*181C>T|||||181|,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|6/6|c.614+185C>T|||||| 22 24179132 . G A . . ANN=A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|7/7|c.632C>T|p.Ala211Val|657/3099|632/708|211/235||,A|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.*115C>T|||||115|,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|6/6|c.614+119C>T|||||| 22 24179176 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.*71G>C|||||71|,G|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|6/6|c.614+75G>C||||||,G|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|6/6|c.615-27G>C|||||| 22 24179326 . T A . . ANN=A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001135751.1|Coding|6/7|c.539A>T|p.His180Leu|564/1069|539/720|180/239||,A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|6/7|c.539A>T|p.His180Leu|564/3099|539/708|180/235||,A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.539A>T|p.His180Leu|564/3200|539/618|180/205|| 22 24179334 . C T . . ANN=T|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_001135751.1|Coding|6/7|c.531G>A|p.Ala177Ala|556/1069|531/720|177/239||,T|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_001002862.2|Coding|6/7|c.531G>A|p.Ala177Ala|556/3099|531/708|177/235||,T|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_198440.3|Coding|6/6|c.531G>A|p.Ala177Ala|556/3200|531/618|177/205|| 22 24179357 . G A . . ANN=A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|5/6|c.524-16C>T||||||,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|5/6|c.524-16C>T||||||,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|5/5|c.524-16C>T|||||| 22 24179819 . G A . . ANN=A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|5/6|c.523+27C>T||||||,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|5/6|c.523+27C>T||||||,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|5/5|c.523+27C>T|||||| 22 24179872 . C T . . ANN=T|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001135751.1|Coding|5/7|c.497G>A|p.Gly166Asp|522/1069|497/720|166/239||,T|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|5/7|c.497G>A|p.Gly166Asp|522/3099|497/708|166/235||,T|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_198440.3|Coding|5/6|c.497G>A|p.Gly166Asp|522/3200|497/618|166/205|| 22 24179922 . G C . . ANN=C|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001135751.1|Coding|5/7|c.447C>G|p.Phe149Leu|472/1069|447/720|149/239||,C|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|5/7|c.447C>G|p.Phe149Leu|472/3099|447/708|149/235||,C|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_198440.3|Coding|5/6|c.447C>G|p.Phe149Leu|472/3200|447/618|149/205|| 22 24179952 . C T . . ANN=T|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_001135751.1|Coding|5/7|c.417G>A|p.Val139Val|442/1069|417/720|139/239||,T|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_001002862.2|Coding|5/7|c.417G>A|p.Val139Val|442/3099|417/708|139/235||,T|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_198440.3|Coding|5/6|c.417G>A|p.Val139Val|442/3200|417/618|139/205|| 22 24179956 . C A . . ANN=A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001135751.1|Coding|5/7|c.413G>T|p.Arg138Leu|438/1069|413/720|138/239||,A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|5/7|c.413G>T|p.Arg138Leu|438/3099|413/708|138/235||,A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_198440.3|Coding|5/6|c.413G>T|p.Arg138Leu|438/3200|413/618|138/205|| 22 24180049 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|DERL3|DERL3|transcript|NM_001135751.1|Coding|4/6|c.328-8T>A||||||,T|splice_region_variant&intron_variant|LOW|DERL3|DERL3|transcript|NM_001002862.2|Coding|4/6|c.328-8T>A||||||,T|splice_region_variant&intron_variant|LOW|DERL3|DERL3|transcript|NM_198440.3|Coding|4/5|c.328-8T>A|||||| 22 24180065 . G A . . ANN=A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|4/6|c.328-24C>T||||||,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|4/6|c.328-24C>T||||||,A|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|4/5|c.328-24C>T|||||| 22 24180091 . G GC . . ANN=GC|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|4/6|c.328-51_328-50insG||||||,GC|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|4/6|c.328-51_328-50insG||||||,GC|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|4/5|c.328-51_328-50insG|||||| 22 24180581 . G C . . ANN=C|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_001135751.1|Coding|4/7|c.285C>G|p.Ala95Ala|310/1069|285/720|95/239||,C|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_001002862.2|Coding|4/7|c.285C>G|p.Ala95Ala|310/3099|285/708|95/235||,C|synonymous_variant|LOW|DERL3|DERL3|transcript|NM_198440.3|Coding|4/6|c.285C>G|p.Ala95Ala|310/3200|285/618|95/205|| 22 24180588 . C G . . ANN=G|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001135751.1|Coding|4/7|c.278G>C|p.Arg93Pro|303/1069|278/720|93/239||,G|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|4/7|c.278G>C|p.Arg93Pro|303/3099|278/708|93/235||,G|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_198440.3|Coding|4/6|c.278G>C|p.Arg93Pro|303/3200|278/618|93/205|| 22 24180674 . G GT . . ANN=GT|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|3/6|c.234-43_234-42insA||||||,GT|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|3/6|c.234-43_234-42insA||||||,GT|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|3/5|c.234-43_234-42insA|||||| 22 24180703 . C T . . ANN=T|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001135751.1|Coding|3/6|c.233+48G>A||||||,T|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_001002862.2|Coding|3/6|c.233+48G>A||||||,T|intron_variant|MODIFIER|DERL3|DERL3|transcript|NM_198440.3|Coding|3/5|c.233+48G>A|||||| 22 24180746 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|DERL3|DERL3|transcript|NM_001135751.1|Coding|3/6|c.233+5C>T||||||,A|splice_region_variant&intron_variant|LOW|DERL3|DERL3|transcript|NM_001002862.2|Coding|3/6|c.233+5C>T||||||,A|splice_region_variant&intron_variant|LOW|DERL3|DERL3|transcript|NM_198440.3|Coding|3/5|c.233+5C>T|||||| 22 24181162 . C T . . ANN=T|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001135751.1|Coding|1/7|c.13G>A|p.Gly5Arg|38/1069|13/720|5/239||,T|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|1/7|c.13G>A|p.Gly5Arg|38/3099|13/708|5/235||,T|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_198440.3|Coding|1/6|c.13G>A|p.Gly5Arg|38/3200|13/618|5/205|| 22 24181166 . C A . . ANN=A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001135751.1|Coding|1/7|c.9G>T|p.Trp3Cys|34/1069|9/720|3/239||,A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_001002862.2|Coding|1/7|c.9G>T|p.Trp3Cys|34/3099|9/708|3/235||,A|missense_variant|MODERATE|DERL3|DERL3|transcript|NM_198440.3|Coding|1/6|c.9G>T|p.Trp3Cys|34/3200|9/618|3/205|| 22 24199110 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/12|c.-48C>A|||||48|,A|5_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|1/13|c.-138C>A|||||567|,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|1/9|n.221C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/11|n.221C>A|||||| 22 24199137 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/12|c.-21C>A|||||21|,A|5_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|1/13|c.-111C>A|||||540|,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|1/9|n.248C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/11|n.248C>A|||||| 22 24199193 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|1/11|c.-484C>A|||||484|,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|1/8|n.289+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/11|c.21+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|1/12|c.-70+15C>A||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/10|n.289+15C>A|||||| 22 24199704 . C T . . ANN=T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|1/11|c.28C>T|p.Arg10Trp|518/3264|28/1608|10/535||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|2/13|c.28C>T|p.Arg10Trp|386/3133|28/1512|10/503||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/11|c.21+526C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/10|n.289+526C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|2/9|n.386C>T|||||| 22 24199764 . AC A,ACC . . ANN=A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|1/10|c.42+47delC||||||,ACC|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|1/10|c.42+47_42+48insC||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|2/8|n.400+47delC||||||,ACC|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|2/8|n.400+47_400+48insC||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/11|c.21+587delC||||||,ACC|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/11|c.21+587_21+588insC||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|2/12|c.42+47delC||||||,ACC|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|2/12|c.42+47_42+48insC||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/10|n.289+587delC||||||,ACC|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/10|n.289+587_289+588insC|||||| 22 24199766 . C CCT . . ANN=CCT|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|1/10|c.42+48_42+49insCT||||||,CCT|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|2/8|n.400+48_400+49insCT||||||,CCT|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/11|c.21+588_21+589insCT||||||,CCT|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|2/12|c.42+48_42+49insCT||||||,CCT|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/10|n.289+588_289+589insCT|||||| 22 24200164 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|1/12|c.-23C>G|||||23|,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|1/10|c.42+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|2/8|n.400+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/11|c.21+986C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|2/12|c.42+446C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/10|n.289+986C>G|||||| 22 24200243 . C T . . ANN=T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|1/10|c.42+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|2/8|n.400+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/11|c.21+1065C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|2/12|c.42+525C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/10|n.289+1065C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|1/11|c.30+27C>T|||||| 22 24204278 . C T . . ANN=T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|1/10|c.43-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|2/8|n.401-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|1/11|c.22-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|2/12|c.43-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|1/10|n.290-13C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|1/11|c.31-13C>T|||||| 22 24204293 . TCAGGG T . . ANN=|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|2/11|c.50_54delGCAGG|p.Gly17fs|540/3264|50/1608|17/535||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|2/12|c.29_33delGCAGG|p.Gly10fs|297/3022|29/1491|10/496||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|3/13|c.50_54delGCAGG|p.Gly17fs|408/3133|50/1512|17/503||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|2/12|c.38_42delGCAGG|p.Gly13fs|185/2910|38/1500|13/499||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|3/9|n.408_412delGCAGG||||||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|2/11|n.297_301delGCAGG||||||INFO_REALIGN_3_PRIME 22 24204310 . T A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|2/11|c.62T>A|p.Leu21His|552/3264|62/1608|21/535||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|2/12|c.41T>A|p.Leu14His|309/3022|41/1491|14/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|3/13|c.62T>A|p.Leu21His|420/3133|62/1512|21/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|2/12|c.50T>A|p.Leu17His|197/2910|50/1500|17/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|3/9|n.420T>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|2/11|n.309T>A|||||| 22 24204322 . GC G . . ANN=G|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|2/11|c.75delC|p.Cys25fs|565/3264|75/1608|25/535||,G|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|2/12|c.54delC|p.Cys18fs|322/3022|54/1491|18/496||,G|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|3/13|c.75delC|p.Cys25fs|433/3133|75/1512|25/503||,G|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|2/12|c.63delC|p.Cys21fs|210/2910|63/1500|21/499||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|3/9|n.433delC||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|2/11|n.322delC|||||| 22 24204382 . C T . . ANN=T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|2/11|c.134C>T|p.Pro45Leu|624/3264|134/1608|45/535||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|2/12|c.113C>T|p.Pro38Leu|381/3022|113/1491|38/496||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|3/13|c.134C>T|p.Pro45Leu|492/3133|134/1512|45/503||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|2/12|c.122C>T|p.Pro41Leu|269/2910|122/1500|41/499||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|3/9|n.492C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|2/11|n.381C>T|||||| 22 24204383 . G A . . ANN=A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|2/11|c.135G>A|p.Pro45Pro|625/3264|135/1608|45/535||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|2/12|c.114G>A|p.Pro38Pro|382/3022|114/1491|38/496||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|3/13|c.135G>A|p.Pro45Pro|493/3133|135/1512|45/503||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|2/12|c.123G>A|p.Pro41Pro|270/2910|123/1500|41/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|3/9|n.493G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|2/11|n.382G>A|||||| 22 24204422 . G C . . ANN=C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|2/10|c.141+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|3/8|n.499+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|2/11|c.120+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|3/12|c.141+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|2/10|n.388+33G>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|2/11|c.129+33G>C|||||| 22 24204438 . G T . . ANN=T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|2/10|c.141+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|3/8|n.499+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|2/11|c.120+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|3/12|c.141+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|2/10|n.388+49G>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|2/11|c.129+49G>T|||||| 22 24210626 . C T . . ANN=T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|2/10|c.142-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|3/8|n.500-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|2/11|c.121-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|3/12|c.142-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|2/10|n.389-42C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|2/11|c.130-42C>T|||||| 22 24210694 . A G . . ANN=G|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|3/11|c.168A>G|p.Thr56Thr|658/3264|168/1608|56/535||,G|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|3/12|c.147A>G|p.Thr49Thr|415/3022|147/1491|49/496||,G|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|4/13|c.168A>G|p.Thr56Thr|526/3133|168/1512|56/503||,G|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|3/12|c.156A>G|p.Thr52Thr|303/2910|156/1500|52/499||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|4/9|n.526A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|3/11|n.415A>G|||||| 22 24210725 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|3/11|c.199G>A|p.Asp67Asn|689/3264|199/1608|67/535||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|3/12|c.178G>A|p.Asp60Asn|446/3022|178/1491|60/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|4/13|c.199G>A|p.Asp67Asn|557/3133|199/1512|67/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|3/12|c.187G>A|p.Asp63Asn|334/2910|187/1500|63/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|4/9|n.557G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|3/11|n.446G>A|||||| 22 24210736 . C T . . ANN=T|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|3/11|c.210C>T|p.Val70Val|700/3264|210/1608|70/535||,T|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|3/12|c.189C>T|p.Val63Val|457/3022|189/1491|63/496||,T|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|4/13|c.210C>T|p.Val70Val|568/3133|210/1512|70/503||,T|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|3/12|c.198C>T|p.Val66Val|345/2910|198/1500|66/499||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|4/9|n.568C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|3/11|n.457C>T|||||| 22 24210816 . T C . . ANN=C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|3/11|c.290T>C|p.Ile97Thr|780/3264|290/1608|97/535||,C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|3/12|c.269T>C|p.Ile90Thr|537/3022|269/1491|90/496||,C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|4/13|c.290T>C|p.Ile97Thr|648/3133|290/1512|97/503||,C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|3/12|c.278T>C|p.Ile93Thr|425/2910|278/1500|93/499||,C|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|4/9|n.648T>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|3/11|n.537T>C|||||| 22 24210822 . T G . . ANN=G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|3/11|c.296T>G|p.Leu99Arg|786/3264|296/1608|99/535||,G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|3/12|c.275T>G|p.Leu92Arg|543/3022|275/1491|92/496||,G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|4/13|c.296T>G|p.Leu99Arg|654/3133|296/1512|99/503||,G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|3/12|c.284T>G|p.Leu95Arg|431/2910|284/1500|95/499||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|4/9|n.654T>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|3/11|n.543T>G|||||| 22 24210844 . A G . . ANN=G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|3/10|c.302+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|4/8|n.660+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|3/11|c.281+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|4/12|c.302+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|3/10|n.549+16A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|3/11|c.290+16A>G|||||| 22 24217275 . C T . . ANN=T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|3/10|c.303-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|4/8|n.661-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|3/11|c.282-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|4/12|c.303-29C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|3/10|n.550-33C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|3/11|c.291-29C>T|||||| 22 24217449 . A G . . ANN=G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|4/10|c.427+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|5/8|n.785+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|4/11|c.406+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|5/12|c.427+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|4/10|n.670+21A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|4/11|c.415+21A>G|||||| 22 24219200 . T C . . ANN=C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|4/10|c.428-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|5/8|n.786-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|4/11|c.407-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|5/12|c.428-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|4/10|n.671-29T>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|4/11|c.416-29T>C|||||| 22 24219233 . G A . . ANN=A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|5/11|c.432G>A|p.Val144Val|922/3264|432/1608|144/535||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|5/12|c.411G>A|p.Val137Val|679/3022|411/1491|137/496||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|6/13|c.432G>A|p.Val144Val|790/3133|432/1512|144/503||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|5/12|c.420G>A|p.Val140Val|567/2910|420/1500|140/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|6/9|n.790G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|5/11|n.675G>A|||||| 22 24219864 . C G . . ANN=G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|5/10|c.558-44C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|6/8|n.916-44C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|5/11|c.537-44C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|6/12|c.558-44C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|5/10|n.800+506C>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|5/11|c.546-44C>G|||||| 22 24220011 . C T . . ANN=T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|6/11|c.661C>T|p.Arg221Cys|1151/3264|661/1608|221/535||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|6/12|c.640C>T|p.Arg214Cys|908/3022|640/1491|214/496||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|7/13|c.661C>T|p.Arg221Cys|1019/3133|661/1512|221/503||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|6/12|c.649C>T|p.Arg217Cys|796/2910|649/1500|217/499||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|5/10|n.800+653C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|7/9|n.1019C>T|||||| 22 24220044 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|6/11|c.694G>A|p.Ala232Thr|1184/3264|694/1608|232/535||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|6/12|c.673G>A|p.Ala225Thr|941/3022|673/1491|225/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|7/13|c.694G>A|p.Ala232Thr|1052/3133|694/1512|232/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|6/12|c.682G>A|p.Ala228Thr|829/2910|682/1500|228/499||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|5/10|n.800+686G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|7/9|n.1052G>A|||||| 22 24220053 . G C . . ANN=C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|6/11|c.703G>C|p.Ala235Pro|1193/3264|703/1608|235/535||,C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|6/12|c.682G>C|p.Ala228Pro|950/3022|682/1491|228/496||,C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|7/13|c.703G>C|p.Ala235Pro|1061/3133|703/1512|235/503||,C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|6/12|c.691G>C|p.Ala231Pro|838/2910|691/1500|231/499||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|5/10|n.800+695G>C||||||,C|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|7/9|n.1061G>C|||||| 22 24224654 . C CA . . ANN=CA|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|7/11|c.715_716insA|p.Arg239fs|1206/3264|716/1608|239/535||,CA|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|7/12|c.694_695insA|p.Arg232fs|963/3022|695/1491|232/496||,CA|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|8/13|c.715_716insA|p.Arg239fs|1074/3133|716/1512|239/503||,CA|frameshift_variant|HIGH|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|7/12|c.703_704insA|p.Arg235fs|851/2910|704/1500|235/499||,CA|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|8/9|n.1073_1074insA||||||,CA|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|6/11|n.809_810insA||||||;LOF=(SLC2A11|SLC2A11|6|0.67) 22 24224655 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|7/11|c.716G>A|p.Arg239Gln|1206/3264|716/1608|239/535||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|7/12|c.695G>A|p.Arg232Gln|963/3022|695/1491|232/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|8/13|c.716G>A|p.Arg239Gln|1074/3133|716/1512|239/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|7/12|c.704G>A|p.Arg235Gln|851/2910|704/1500|235/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|8/9|n.1074G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|6/11|n.810G>A|||||| 22 24224659 . C A . . ANN=A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|7/11|c.720C>A|p.Leu240Leu|1210/3264|720/1608|240/535||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|7/12|c.699C>A|p.Leu233Leu|967/3022|699/1491|233/496||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|8/13|c.720C>A|p.Leu240Leu|1078/3133|720/1512|240/503||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|7/12|c.708C>A|p.Leu236Leu|855/2910|708/1500|236/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|8/9|n.1078C>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|6/11|n.814C>A|||||| 22 24224668 . C T . . ANN=T|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|7/11|c.729C>T|p.Ser243Ser|1219/3264|729/1608|243/535||,T|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|7/12|c.708C>T|p.Ser236Ser|976/3022|708/1491|236/496||,T|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|8/13|c.729C>T|p.Ser243Ser|1087/3133|729/1512|243/503||,T|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|7/12|c.717C>T|p.Ser239Ser|864/2910|717/1500|239/499||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|8/9|n.1087C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|6/11|n.823C>T|||||| 22 24224709 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|7/11|c.770G>A|p.Arg257His|1260/3264|770/1608|257/535||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|7/12|c.749G>A|p.Arg250His|1017/3022|749/1491|250/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|8/13|c.770G>A|p.Arg257His|1128/3133|770/1512|257/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|7/12|c.758G>A|p.Arg253His|905/2910|758/1500|253/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|8/9|n.1128G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|6/11|n.864G>A|||||| 22 24224736 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|7/11|c.797G>A|p.Arg266Gln|1287/3264|797/1608|266/535||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|7/12|c.776G>A|p.Arg259Gln|1044/3022|776/1491|259/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|8/13|c.797G>A|p.Arg266Gln|1155/3133|797/1512|266/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|7/12|c.785G>A|p.Arg262Gln|932/2910|785/1500|262/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|8/9|n.1155G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|6/11|n.891G>A|||||| 22 24224826 . A G . . ANN=G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|7/11|c.887A>G|p.Asn296Ser|1377/3264|887/1608|296/535||,G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|7/12|c.866A>G|p.Asn289Ser|1134/3022|866/1491|289/496||,G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|8/13|c.887A>G|p.Asn296Ser|1245/3133|887/1512|296/503||,G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|7/12|c.875A>G|p.Asn292Ser|1022/2910|875/1500|292/499||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|8/9|n.1245A>G||||||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|6/11|n.981A>G|||||| 22 24224973 . C T . . ANN=T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|8/11|c.922C>T|p.Arg308Trp|1412/3264|922/1608|308/535||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|8/12|c.901C>T|p.Arg301Trp|1169/3022|901/1491|301/496||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|9/13|c.922C>T|p.Arg308Trp|1280/3133|922/1512|308/503||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|8/12|c.910C>T|p.Arg304Trp|1057/2910|910/1500|304/499||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|9/9|n.1280C>T||||||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|7/11|n.1016C>T|||||| 22 24224974 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|8/11|c.923G>A|p.Arg308Gln|1413/3264|923/1608|308/535||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|8/12|c.902G>A|p.Arg301Gln|1170/3022|902/1491|301/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|9/13|c.923G>A|p.Arg308Gln|1281/3133|923/1512|308/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|8/12|c.911G>A|p.Arg304Gln|1058/2910|911/1500|304/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|9/9|n.1281G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|7/11|n.1017G>A|||||| 22 24225044 . G A . . ANN=A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|8/11|c.993G>A|p.Thr331Thr|1483/3264|993/1608|331/535||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|8/12|c.972G>A|p.Thr324Thr|1240/3022|972/1491|324/496||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|9/13|c.993G>A|p.Thr331Thr|1351/3133|993/1512|331/503||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|8/12|c.981G>A|p.Thr327Thr|1128/2910|981/1500|327/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104248.1|Noncoding|9/9|n.1351G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|7/11|n.1087G>A|||||| 22 24225971 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|9/12|c.997G>A|p.Glu333Lys|1265/3022|997/1491|333/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|10/13|c.1018G>A|p.Glu340Lys|1376/3133|1018/1512|340/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|9/12|c.1006G>A|p.Glu336Lys|1153/2910|1006/1500|336/499||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|8/10|c.1006-90G>A||||||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|8/11|n.1112G>A|||||| 22 24226131 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|9/11|c.1076G>A|p.Arg359Gln|1566/3264|1076/1608|359/535||,A|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|9/11|c.1087-5G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|10/12|c.1108-5G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|8/10|n.1202-5G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|9/11|c.1096-5G>A|||||| 22 24226242 . A G . . ANN=G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|9/10|c.1156+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|10/11|c.1162+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|11/12|c.1183+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|9/10|n.1277+31A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|10/11|c.1171+31A>G|||||| 22 24226251 . TAGA T . . ANN=T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|9/10|c.1156+41_1156+43delAGA||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|10/11|c.1162+41_1162+43delAGA||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|11/12|c.1183+41_1183+43delAGA||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|9/10|n.1277+41_1277+43delAGA||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|10/11|c.1171+41_1171+43delAGA|||||| 22 24226449 . A G . . ANN=G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|9/10|c.1157-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|10/11|c.1163-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|11/12|c.1184-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|9/10|n.1278-40A>G||||||,G|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|10/11|c.1172-40A>G|||||| 22 24226520 . G C . . ANN=C|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|10/11|c.1188G>C|p.Leu396Leu|1678/3264|1188/1608|396/535||,C|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|11/12|c.1194G>C|p.Leu398Leu|1462/3022|1194/1491|398/496||,C|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|12/13|c.1215G>C|p.Leu405Leu|1573/3133|1215/1512|405/503||,C|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|11/12|c.1203G>C|p.Leu401Leu|1350/2910|1203/1500|401/499||,C|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|10/11|n.1309G>C|||||| 22 24226573 . G A . . ANN=A|stop_gained|HIGH|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|10/11|c.1241G>A|p.Trp414*|1731/3264|1241/1608|414/535||,A|stop_gained|HIGH|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|11/12|c.1247G>A|p.Trp416*|1515/3022|1247/1491|416/496||,A|stop_gained|HIGH|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|12/13|c.1268G>A|p.Trp423*|1626/3133|1268/1512|423/503||,A|stop_gained|HIGH|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|11/12|c.1256G>A|p.Trp419*|1403/2910|1256/1500|419/499||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|10/11|n.1362G>A|||||| 22 24226584 . A T . . ANN=T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|10/11|c.1252A>T|p.Ile418Phe|1742/3264|1252/1608|418/535||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|11/12|c.1258A>T|p.Ile420Phe|1526/3022|1258/1491|420/496||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|12/13|c.1279A>T|p.Ile427Phe|1637/3133|1279/1512|427/503||,T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|11/12|c.1267A>T|p.Ile423Phe|1414/2910|1267/1500|423/499||,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|10/11|n.1373A>T|||||| 22 24226620 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|10/10|c.1284+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|11/11|c.1290+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|12/12|c.1311+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|10/10|n.1405+4G>T||||||,T|splice_region_variant&intron_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|11/11|c.1299+4G>T|||||| 22 24226633 . C T . . ANN=T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|10/10|c.1284+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|11/11|c.1290+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|12/12|c.1311+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|10/10|n.1405+17C>T||||||,T|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|11/11|c.1299+17C>T|||||| 22 24226652 . G A . . ANN=A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|10/10|c.1284+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|11/11|c.1290+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|12/12|c.1311+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|10/10|n.1405+36G>A||||||,A|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|11/11|c.1299+36G>A|||||| 22 24226801 . A C . . ANN=C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|10/10|c.1285-9A>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|11/11|c.1291-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|12/12|c.1312-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|10/10|n.1406-35A>C||||||,C|intron_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|11/11|c.1300-35A>C|||||| 22 24226890 . G A . . ANN=A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|12/12|c.1345G>A|p.Ala449Thr|1613/3022|1345/1491|449/496||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|13/13|c.1366G>A|p.Ala456Thr|1724/3133|1366/1512|456/503||,A|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|12/12|c.1354G>A|p.Ala452Thr|1501/2910|1354/1500|452/499||,A|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|11/11|c.1365G>A|p.Gly455Gly|1855/3264|1365/1608|455/535||,A|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|11/11|n.1460G>A|||||| 22 24226950 . A G . . ANN=G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|12/12|c.1405A>G|p.Lys469Glu|1673/3022|1405/1491|469/496||,G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|13/13|c.1426A>G|p.Lys476Glu|1784/3133|1426/1512|476/503||,G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|12/12|c.1414A>G|p.Lys472Glu|1561/2910|1414/1500|472/499||,G|synonymous_variant|LOW|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|11/11|c.1425A>G|p.Pro475Pro|1915/3264|1425/1608|475/535||,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|11/11|n.1520A>G|||||| 22 24227053 . A G . . ANN=G|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|11/11|c.1528A>G|p.Arg510Gly|2018/3264|1528/1608|510/535||,G|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|12/12|c.*17A>G|||||17|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|13/13|c.*17A>G|||||17|,G|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|12/12|c.*17A>G|||||17|,G|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|11/11|n.1623A>G|||||| 22 24227054 . G T . . ANN=T|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|11/11|c.1529G>T|p.Arg510Ile|2019/3264|1529/1608|510/535||,T|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|12/12|c.*18G>T|||||18|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|13/13|c.*18G>T|||||18|,T|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|12/12|c.*18G>T|||||18|,T|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|11/11|n.1624G>T|||||| 22 24227071 . T C . . ANN=C|missense_variant|MODERATE|SLC2A11|SLC2A11|transcript|NM_001282864.1|Coding|11/11|c.1546T>C|p.Cys516Arg|2036/3264|1546/1608|516/535||,C|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024938.3|Coding|12/12|c.*35T>C|||||35|,C|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_030807.4|Coding|13/13|c.*35T>C|||||35|,C|3_prime_UTR_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NM_001024939.3|Coding|12/12|c.*35T>C|||||35|,C|non_coding_exon_variant|MODIFIER|SLC2A11|SLC2A11|transcript|NR_104247.1|Noncoding|11/11|n.1641T>C|||||| 22 24236638 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MIF|MIF|transcript|NM_002415.1|Coding|1/3|c.-24G>A|||||24|,A|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.1451C>T|||||| 22 24236666 . C G . . ANN=G|missense_variant|MODERATE|MIF|MIF|transcript|NM_002415.1|Coding|1/3|c.5C>G|p.Pro2Arg|102/561|5/348|2/115||,G|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.1423G>C|||||| 22 24236685 . C T . . ANN=T|synonymous_variant|LOW|MIF|MIF|transcript|NM_002415.1|Coding|1/3|c.24C>T|p.Thr8Thr|121/561|24/348|8/115||,T|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.1404G>A|||||| 22 24236708 . C T . . ANN=T|missense_variant|MODERATE|MIF|MIF|transcript|NM_002415.1|Coding|1/3|c.47C>T|p.Pro16Leu|144/561|47/348|16/115||,T|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.1381G>A|||||| 22 24236819 . T C . . ANN=C|intron_variant|MODIFIER|MIF|MIF|transcript|NM_002415.1|Coding|1/2|c.108+50T>C||||||,C|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.1270A>G|||||| 22 24237108 . G A . . ANN=A|synonymous_variant|LOW|MIF|MIF|transcript|NM_002415.1|Coding|2/3|c.258G>A|p.Glu86Glu|355/561|258/348|86/115||,A|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.981C>T|||||| 22 24237189 . C T . . ANN=T|intron_variant|MODIFIER|MIF|MIF|transcript|NM_002415.1|Coding|2/2|c.282-38C>T||||||,T|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.900G>A|||||| 22 24237217 . C T . . ANN=T|intron_variant|MODIFIER|MIF|MIF|transcript|NM_002415.1|Coding|2/2|c.282-10C>T||||||,T|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.872G>A|||||| 22 24237218 . C T . . ANN=T|intron_variant|MODIFIER|MIF|MIF|transcript|NM_002415.1|Coding|2/2|c.282-9C>T||||||,T|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.871G>A|||||| 22 24237220 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|MIF|MIF|transcript|NM_002415.1|Coding|2/2|c.282-7C>A||||||,A|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.869G>T|||||| 22 24237221 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|MIF|MIF|transcript|NM_002415.1|Coding|2/2|c.282-6C>G||||||,G|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.868G>C|||||| 22 24237283 . C T . . ANN=T|missense_variant|MODERATE|MIF|MIF|transcript|NM_002415.1|Coding|3/3|c.338C>T|p.Thr113Ile|435/561|338/348|113/115||,T|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.806G>A|||||| 22 24237303 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MIF|MIF|transcript|NM_002415.1|Coding|3/3|c.*10G>A|||||10|,A|non_coding_exon_variant|MODIFIER|LOC284889|LOC284889|transcript|NR_038911.1|Noncoding|3/3|n.786C>T|||||| 22 24313449 . G C . . ANN=C|intron_variant|MODIFIER|DDTL|DDTL|transcript|NM_001084393.1|Coding|2/2|c.285-26G>C|||||| 22 24313457 . T TAAACATCAGACAGCAGCCCTGAAGATGG . . ANN=TAAACATCAGACAGCAGCCCTGAAGATGG|intron_variant|MODIFIER|DDTL|DDTL|transcript|NM_001084393.1|Coding|2/2|c.285-18_285-17insAAACATCAGACAGCAGCCCTGAAGATGG|||||| 22 24313483 . C T . . ANN=T|missense_variant|MODERATE|DDTL|DDTL|transcript|NM_001084393.1|Coding|3/3|c.293C>T|p.Thr98Met|370/1635|293/405|98/134|| 22 24313484 . G A . . ANN=A|synonymous_variant|LOW|DDTL|DDTL|transcript|NM_001084393.1|Coding|3/3|c.294G>A|p.Thr98Thr|371/1635|294/405|98/134|| 22 24313530 . GGA G . . ANN=|frameshift_variant|HIGH|DDTL|DDTL|transcript|NM_001084393.1|Coding|3/3|c.345_346delGA|p.Glu115fs|422/1635|345/405|115/134||INFO_REALIGN_3_PRIME;LOF=(DDTL|DDTL|1|1.00) 22 24313802 . G A . . ANN=A|missense_variant|MODERATE|DDT|DDT|transcript|NM_001084392.1|Coding|3/3|c.295C>T|p.Arg99Cys|372/620|295/357|99/118||,A|missense_variant|MODERATE|DDT|DDT|transcript|NM_001355.3|Coding|4/4|c.295C>T|p.Arg99Cys|423/671|295/357|99/118||,A|3_prime_UTR_variant|MODIFIER|DDTL|DDTL|transcript|NM_001084393.1|Coding|3/3|c.*207G>A|||||207| 22 24313856 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|DDTL|DDTL|transcript|NM_001084393.1|Coding|3/3|c.*261T>C|||||261|,C|intron_variant|MODIFIER|DDT|DDT|transcript|NM_001084392.1|Coding|2/2|c.285-44A>G||||||,C|intron_variant|MODIFIER|DDT|DDT|transcript|NM_001355.3|Coding|3/3|c.285-44A>G|||||| 22 24323153 . AAGG A . . ANN=|inframe_deletion|MODERATE|GSTT2|GSTT2.2|transcript|NM_000854.3.2|Coding|2/5|c.130_132delGAG|p.Glu44del|205/1119|130/735|44/244||INFO_REALIGN_3_PRIME,|inframe_deletion|MODERATE|GSTT2B|GSTT2B|transcript|NM_001080843.3|Coding|2/5|c.130_132delGAG|p.Glu44del|180/1094|130/735|44/244||INFO_REALIGN_3_PRIME 22 24376817 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GSTT1|GSTT1|transcript|NM_000853.3|Coding|4/4|c.528+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|4/4|c.486+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|3/3|c.174+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|2/2|c.174+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|3/3|c.174+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|3/3|c.174+5G>A||||||,T|splice_region_variant&intron_variant|LOW|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|4/4|c.174+5G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.201-200G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-200G>A|||||| 22 24376845 . C T . . ANN=T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_000853.3|Coding|4/5|c.505G>A|p.Val169Ile|585/1093|505/723|169/240||,T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|4/5|c.463G>A|p.Val155Ile|543/1051|463/681|155/226||,T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|3/4|c.151G>A|p.Val51Ile|436/944|151/369|51/122||,T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|2/3|c.151G>A|p.Val51Ile|346/854|151/369|51/122||,T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|3/4|c.151G>A|p.Val51Ile|497/1005|151/369|51/122||,T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|3/4|c.151G>A|p.Val51Ile|434/942|151/369|51/122||,T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|4/5|c.151G>A|p.Val51Ile|524/1032|151/369|51/122||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.201-228G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-228G>A|||||| 22 24376865 . T A . . ANN=A|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_000853.3|Coding|4/5|c.485A>T|p.His162Leu|565/1093|485/723|162/240||,A|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|4/5|c.443A>T|p.His148Leu|523/1051|443/681|148/226||,A|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|3/4|c.131A>T|p.His44Leu|416/944|131/369|44/122||,A|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|2/3|c.131A>T|p.His44Leu|326/854|131/369|44/122||,A|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|3/4|c.131A>T|p.His44Leu|477/1005|131/369|44/122||,A|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|3/4|c.131A>T|p.His44Leu|414/942|131/369|44/122||,A|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|4/5|c.131A>T|p.His44Leu|504/1032|131/369|44/122||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.201-248A>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-248A>T|||||| 22 24376939 . C T . . ANN=T|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_000853.3|Coding|4/5|c.411G>A|p.Leu137Leu|491/1093|411/723|137/240||,T|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|4/5|c.369G>A|p.Leu123Leu|449/1051|369/681|123/226||,T|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|3/4|c.57G>A|p.Leu19Leu|342/944|57/369|19/122||,T|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|2/3|c.57G>A|p.Leu19Leu|252/854|57/369|19/122||,T|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|3/4|c.57G>A|p.Leu19Leu|403/1005|57/369|19/122||,T|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|3/4|c.57G>A|p.Leu19Leu|340/942|57/369|19/122||,T|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|4/5|c.57G>A|p.Leu19Leu|430/1032|57/369|19/122||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.201-322G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-322G>A|||||| 22 24377034 . A G . . ANN=G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_000853.3|Coding|3/4|c.352-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|3/4|c.310-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|2/3|c.-3-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/2|c.-3-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|2/3|c.-3-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|2/3|c.-3-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|3/4|c.-3-36T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.201-417T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-417T>C|||||| 22 24379392 . C T . . ANN=T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_000853.3|Coding|3/5|c.320G>A|p.Arg107Gln|400/1093|320/723|107/240||,T|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|2/4|c.-35G>A|||||2397|,T|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|2/4|c.-35G>A|||||2397|,T|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|3/5|c.-35G>A|||||2397|,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|3/4|c.309+2308G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/2|c.-3-2394G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|2/3|c.-4+2308G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.200+2308G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-2775G>A|||||| 22 24379402 . T G . . ANN=G|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_000853.3|Coding|3/5|c.310A>C|p.Thr104Pro|390/1093|310/723|104/240||,G|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|2/4|c.-45A>C|||||2407|,G|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|2/4|c.-45A>C|||||2407|,G|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|3/5|c.-45A>C|||||2407|,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|3/4|c.309+2298A>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/2|c.-3-2404A>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|2/3|c.-4+2298A>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.200+2298A>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-2785A>C|||||| 22 24379411 . A G . . ANN=G|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_000853.3|Coding|3/5|c.301T>C|p.Trp101Arg|381/1093|301/723|101/240||,G|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|2/4|c.-54T>C|||||2416|,G|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|2/4|c.-54T>C|||||2416|,G|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|3/5|c.-54T>C|||||2416|,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|3/4|c.309+2289T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/2|c.-3-2413T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|2/3|c.-4+2289T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.200+2289T>C||||||,G|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-2794T>C|||||| 22 24379487 . C T . . ANN=T|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_000853.3|Coding|3/5|c.225G>A|p.Thr75Thr|305/1093|225/723|75/240||,T|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|2/4|c.-130G>A|||||2492|,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|3/4|c.309+2213G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|1/3|c.-93-37G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/2|c.-3-2489G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|2/3|c.-4+2213G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|2/4|c.-93-37G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/2|c.200+2213G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.113-2870G>A|||||| 22 24381773 . C T . . ANN=T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_000853.3|Coding|2/5|c.127G>A|p.Asp43Asn|207/1093|127/723|43/240||,T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|3/5|c.236G>A|p.Arg79Gln|316/1051|236/681|79/226||,T|missense_variant|MODERATE|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|2/3|c.127G>A|p.Asp43Asn|207/765|127/318|43/105||,T|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|2/4|c.-77G>A|||||4778|,T|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|2/5|c.-167G>A|||||4778|,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|1/3|c.-93-2323G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/2|c.-4+2347G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|1/3|c.-154-2262G>A||||||,T|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.112+2347G>A|||||| 22 24381811 . G A . . ANN=A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_000853.3|Coding|1/4|c.113-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|2/4|c.222-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|1/3|c.-94+2309C>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/2|c.-4+2309C>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|1/3|c.-154-2300C>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|1/3|c.-91-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|1/4|c.-181-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|1/2|c.113-24C>T||||||,A|intron_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/1|c.112+2309C>T|||||| 22 24384219 . G A . . ANN=A|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_000853.3|Coding|1/5|c.13C>T|p.Leu5Leu|93/1093|13/723|5/240||,A|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293807.1|Coding|1/5|c.13C>T|p.Leu5Leu|93/1051|13/681|5/226||,A|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293813.1|Coding|1/3|c.13C>T|p.Leu5Leu|93/765|13/318|5/105||,A|synonymous_variant|LOW|GSTT1|GSTT1|transcript|NM_001293814.1|Coding|1/2|c.13C>T|p.Leu5Leu|93/677|13/219|5/72||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|1/4|c.-193C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/3|c.-103C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|1/4|c.-254C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|1/4|c.-191C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|1/5|c.-281C>T||||||,A|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293808.1|Coding|1/4|c.-193C>T|||||7224|,A|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293809.1|Coding|1/3|c.-103C>T|||||7224|,A|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293810.1|Coding|1/4|c.-254C>T|||||7224|,A|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293811.1|Coding|1/4|c.-191C>T|||||7224|,A|5_prime_UTR_variant|MODIFIER|GSTT1|GSTT1|transcript|NM_001293812.1|Coding|1/5|c.-281C>T|||||7224| 22 24431941 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|2/37|c.-25G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|2/36|c.-25G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|2/37|c.-25G>A||||||,A|5_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|2/37|c.-25G>A|||||25|,A|5_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|2/36|c.-25G>A|||||25|,A|5_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|2/37|c.-25G>A|||||25| 22 24432541 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|3/37|c.8G>A|p.Arg3Gln|441/7528|8/6663|3/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|3/36|c.8G>A|p.Arg3Gln|135/7072|8/6513|3/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|3/37|c.8G>A|p.Arg3Gln|135/7222|8/6663|3/2220|| 22 24434748 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|3/36|c.97-48A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|3/35|c.97-48A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|3/36|c.97-48A>G|||||| 22 24434779 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|3/36|c.97-17C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|3/35|c.97-17C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|3/36|c.97-17C>T|||||| 22 24434850 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|4/37|c.151C>T|p.Arg51Trp|584/7528|151/6663|51/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|4/36|c.151C>T|p.Arg51Trp|278/7072|151/6513|51/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|4/37|c.151C>T|p.Arg51Trp|278/7222|151/6663|51/2220|| 22 24434944 . T A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|4/36|c.210+35T>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|4/35|c.210+35T>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|4/36|c.210+35T>A|||||| 22 24434951 . T C . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|4/36|c.210+42T>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|4/35|c.210+42T>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|4/36|c.210+42T>C|||||| 22 24437588 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|5/37|c.212C>A|p.Ala71Glu|645/7528|212/6663|71/2220||,A|missense_variant&splice_region_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|5/36|c.212C>A|p.Ala71Glu|339/7072|212/6513|71/2170||,A|missense_variant&splice_region_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|5/37|c.212C>A|p.Ala71Glu|339/7222|212/6663|71/2220|| 22 24437770 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|5/36|c.345+49G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|5/35|c.345+49G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|5/36|c.345+49G>A|||||| 22 24439328 . GTGTGTGTGTGTT G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|5/36|c.346-37_346-26delTGTGTGTGTGTT||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|5/35|c.346-37_346-26delTGTGTGTGTGTT||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|5/36|c.346-37_346-26delTGTGTGTGTGTT|||||| 22 24439338 . GTT G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|5/36|c.346-27_346-26delTT||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|5/35|c.346-27_346-26delTT||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|5/36|c.346-27_346-26delTT|||||| 22 24439560 . T TGA . . ANN=TGA|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|6/36|c.526+14_526+15insGA||||||,TGA|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|6/35|c.526+14_526+15insGA||||||,TGA|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|6/36|c.526+14_526+15insGA|||||| 22 24439576 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|6/36|c.526+30G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|6/35|c.526+30G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|6/36|c.526+30G>A|||||| 22 24445555 . T A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|7/37|c.529T>A|p.Cys177Ser|962/7528|529/6663|177/2220||,A|missense_variant&splice_region_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|7/36|c.529T>A|p.Cys177Ser|656/7072|529/6513|177/2170||,A|missense_variant&splice_region_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|7/37|c.529T>A|p.Cys177Ser|656/7222|529/6663|177/2220|| 22 24447272 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|7/36|c.657-15C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|7/35|c.656+1590C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|7/36|c.657-15C>T|||||| 22 24447303 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|8/37|c.673G>A|p.Asp225Asn|1106/7528|673/6663|225/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|8/37|c.673G>A|p.Asp225Asn|800/7222|673/6663|225/2220||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|7/35|c.656+1621G>A|||||| 22 24447387 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|8/37|c.757C>T|p.Arg253Trp|1190/7528|757/6663|253/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|8/37|c.757C>T|p.Arg253Trp|884/7222|757/6663|253/2220||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|7/35|c.656+1705C>T|||||| 22 24447436 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|8/37|c.806C>T|p.Thr269Ile|1239/7528|806/6663|269/2220||,T|missense_variant&splice_region_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|8/37|c.806C>T|p.Thr269Ile|933/7222|806/6663|269/2220||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|7/35|c.656+1754C>T|||||| 22 24447470 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|8/36|c.806+34C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|7/35|c.656+1788C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|8/36|c.806+34C>T|||||| 22 24451381 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.852C>T|p.Leu284Leu|1285/7528|852/6663|284/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.702C>T|p.Leu234Leu|829/7072|702/6513|234/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.852C>T|p.Leu284Leu|979/7222|852/6663|284/2220|| 22 24451389 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.860G>A|p.Cys287Tyr|1293/7528|860/6663|287/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.710G>A|p.Cys237Tyr|837/7072|710/6513|237/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.860G>A|p.Cys287Tyr|987/7222|860/6663|287/2220|| 22 24451399 . A G . . ANN=G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.870A>G|p.Pro290Pro|1303/7528|870/6663|290/2220||,G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.720A>G|p.Pro240Pro|847/7072|720/6513|240/2170||,G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.870A>G|p.Pro290Pro|997/7222|870/6663|290/2220|| 22 24451432 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.903G>A|p.Ser301Ser|1336/7528|903/6663|301/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.753G>A|p.Ser251Ser|880/7072|753/6513|251/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.903G>A|p.Ser301Ser|1030/7222|903/6663|301/2220|| 22 24451450 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.921C>T|p.Ser307Ser|1354/7528|921/6663|307/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.771C>T|p.Ser257Ser|898/7072|771/6513|257/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.921C>T|p.Ser307Ser|1048/7222|921/6663|307/2220|| 22 24451454 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.925C>T|p.Pro309Ser|1358/7528|925/6663|309/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.775C>T|p.Pro259Ser|902/7072|775/6513|259/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.925C>T|p.Pro309Ser|1052/7222|925/6663|309/2220|| 22 24451504 . C A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.975C>A|p.Ser325Arg|1408/7528|975/6663|325/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.825C>A|p.Ser275Arg|952/7072|825/6513|275/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.975C>A|p.Ser325Arg|1102/7222|975/6663|325/2220|| 22 24451580 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.1051C>T|p.Pro351Ser|1484/7528|1051/6663|351/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.901C>T|p.Pro301Ser|1028/7072|901/6513|301/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.1051C>T|p.Pro351Ser|1178/7222|1051/6663|351/2220|| 22 24451612 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|9/37|c.1083C>T|p.Gly361Gly|1516/7528|1083/6663|361/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|8/36|c.933C>T|p.Gly311Gly|1060/7072|933/6513|311/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|9/37|c.1083C>T|p.Gly361Gly|1210/7222|1083/6663|361/2220|| 22 24452809 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|10/37|c.1248G>A|p.Lys416Lys|1681/7528|1248/6663|416/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|9/36|c.1098G>A|p.Lys366Lys|1225/7072|1098/6513|366/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|10/37|c.1248G>A|p.Lys416Lys|1375/7222|1248/6663|416/2220|| 22 24452833 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|10/36|c.1262+10A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|9/35|c.1112+10A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|10/36|c.1262+10A>G|||||| 22 24455661 . A C . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|10/36|c.1263-29A>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|9/35|c.1113-29A>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|10/36|c.1263-29A>C|||||| 22 24455841 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|11/36|c.1399+15G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|10/35|c.1249+15G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|11/36|c.1399+15G>A|||||| 22 24456359 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|11/36|c.1400-28A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|10/35|c.1250-28A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|11/36|c.1400-28A>G|||||| 22 24456473 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|12/37|c.1486G>A|p.Gly496Ser|1919/7528|1486/6663|496/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|11/36|c.1336G>A|p.Gly446Ser|1463/7072|1336/6513|446/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|12/37|c.1486G>A|p.Gly496Ser|1613/7222|1486/6663|496/2220|| 22 24456512 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|12/37|c.1525G>A|p.Glu509Lys|1958/7528|1525/6663|509/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|11/36|c.1375G>A|p.Glu459Lys|1502/7072|1375/6513|459/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|12/37|c.1525G>A|p.Glu509Lys|1652/7222|1525/6663|509/2220|| 22 24456518 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|12/37|c.1531G>A|p.Val511Met|1964/7528|1531/6663|511/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|11/36|c.1381G>A|p.Val461Met|1508/7072|1381/6513|461/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|12/37|c.1531G>A|p.Val511Met|1658/7222|1531/6663|511/2220|| 22 24458502 . T C . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|13/36|c.1696+14T>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|12/35|c.1546+14T>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|13/36|c.1696+14T>C|||||| 22 24459401 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|13/36|c.1697-21C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|12/35|c.1547-21C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|13/36|c.1697-21C>T|||||| 22 24459438 . T C . . ANN=C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|14/37|c.1713T>C|p.Cys571Cys|2146/7528|1713/6663|571/2220||,C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|13/36|c.1563T>C|p.Cys521Cys|1690/7072|1563/6513|521/2170||,C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|14/37|c.1713T>C|p.Cys571Cys|1840/7222|1713/6663|571/2220|| 22 24459474 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|14/37|c.1749C>T|p.Asp583Asp|2182/7528|1749/6663|583/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|13/36|c.1599C>T|p.Asp533Asp|1726/7072|1599/6513|533/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|14/37|c.1749C>T|p.Asp583Asp|1876/7222|1749/6663|583/2220|| 22 24459511 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|14/37|c.1786C>T|p.Leu596Leu|2219/7528|1786/6663|596/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|13/36|c.1636C>T|p.Leu546Leu|1763/7072|1636/6513|546/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|14/37|c.1786C>T|p.Leu596Leu|1913/7222|1786/6663|596/2220|| 22 24459522 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|14/37|c.1797C>T|p.Ala599Ala|2230/7528|1797/6663|599/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|13/36|c.1647C>T|p.Ala549Ala|1774/7072|1647/6513|549/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|14/37|c.1797C>T|p.Ala599Ala|1924/7222|1797/6663|599/2220|| 22 24459652 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|14/36|c.1884+43C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|13/35|c.1734+43C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|14/36|c.1884+43C>T|||||| 22 24459656 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|14/36|c.1884+47C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|13/35|c.1734+47C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|14/36|c.1884+47C>T|||||| 22 24460450 . TAGTC T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|14/36|c.1885-47_1885-44delAGTC||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|13/35|c.1735-47_1735-44delAGTC||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|14/36|c.1885-47_1885-44delAGTC|||||| 22 24460548 . C A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|15/37|c.1935C>A|p.Leu645Leu|2368/7528|1935/6663|645/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|14/36|c.1785C>A|p.Leu595Leu|1912/7072|1785/6513|595/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|15/37|c.1935C>A|p.Leu645Leu|2062/7222|1935/6663|645/2220|| 22 24460560 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|15/37|c.1947C>T|p.Thr649Thr|2380/7528|1947/6663|649/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|14/36|c.1797C>T|p.Thr599Thr|1924/7072|1797/6513|599/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|15/37|c.1947C>T|p.Thr649Thr|2074/7222|1947/6663|649/2220|| 22 24460593 . A C . . ANN=C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|15/37|c.1980A>C|p.Arg660Ser|2413/7528|1980/6663|660/2220||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|14/36|c.1830A>C|p.Arg610Ser|1957/7072|1830/6513|610/2170||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|15/37|c.1980A>C|p.Arg660Ser|2107/7222|1980/6663|660/2220|| 22 24460606 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|15/37|c.1993C>T|p.Arg665Trp|2426/7528|1993/6663|665/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|14/36|c.1843C>T|p.Arg615Trp|1970/7072|1843/6513|615/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|15/37|c.1993C>T|p.Arg665Trp|2120/7222|1993/6663|665/2220|| 22 24463123 . T G . . ANN=G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|16/37|c.2223T>G|p.Leu741Leu|2656/7528|2223/6663|741/2220||,G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|15/36|c.2073T>G|p.Leu691Leu|2200/7072|2073/6513|691/2170||,G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|16/37|c.2223T>G|p.Leu741Leu|2350/7222|2223/6663|741/2220|| 22 24466964 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|17/37|c.2446C>T|p.Leu816Phe|2879/7528|2446/6663|816/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|16/36|c.2296C>T|p.Leu766Phe|2423/7072|2296/6513|766/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|17/37|c.2446C>T|p.Leu816Phe|2573/7222|2446/6663|816/2220|| 22 24466967 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|17/37|c.2449G>A|p.Val817Met|2882/7528|2449/6663|817/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|16/36|c.2299G>A|p.Val767Met|2426/7072|2299/6513|767/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|17/37|c.2449G>A|p.Val817Met|2576/7222|2449/6663|817/2220|| 22 24467022 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|17/36|c.2475+29C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|16/35|c.2325+29C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|17/36|c.2475+29C>T|||||| 22 24468346 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|18/37|c.2518C>G|p.Pro840Ala|2951/7528|2518/6663|840/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|17/36|c.2368C>G|p.Pro790Ala|2495/7072|2368/6513|790/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|18/37|c.2518C>G|p.Pro840Ala|2645/7222|2518/6663|840/2220|| 22 24468386 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|18/37|c.2558G>A|p.Arg853Gln|2991/7528|2558/6663|853/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|17/36|c.2408G>A|p.Arg803Gln|2535/7072|2408/6513|803/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|18/37|c.2558G>A|p.Arg853Gln|2685/7222|2558/6663|853/2220|| 22 24468448 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|18/37|c.2620C>T|p.Pro874Ser|3053/7528|2620/6663|874/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|17/36|c.2470C>T|p.Pro824Ser|2597/7072|2470/6513|824/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|18/37|c.2620C>T|p.Pro874Ser|2747/7222|2620/6663|874/2220|| 22 24468449 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|18/37|c.2621C>T|p.Pro874Leu|3054/7528|2621/6663|874/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|17/36|c.2471C>T|p.Pro824Leu|2598/7072|2471/6513|824/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|18/37|c.2621C>T|p.Pro874Leu|2748/7222|2621/6663|874/2220|| 22 24468452 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|18/37|c.2624C>T|p.Ala875Val|3057/7528|2624/6663|875/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|17/36|c.2474C>T|p.Ala825Val|2601/7072|2474/6513|825/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|18/37|c.2624C>T|p.Ala875Val|2751/7222|2624/6663|875/2220|| 22 24472082 . A C . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|18/36|c.2633-36A>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|17/35|c.2483-36A>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|18/36|c.2633-36A>C|||||| 22 24472130 . C A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|19/37|c.2645C>A|p.Thr882Lys|3078/7528|2645/6663|882/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|18/36|c.2495C>A|p.Thr832Lys|2622/7072|2495/6513|832/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|19/37|c.2645C>A|p.Thr882Lys|2772/7222|2645/6663|882/2220|| 22 24472135 . A G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|19/37|c.2650A>G|p.Met884Val|3083/7528|2650/6663|884/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|18/36|c.2500A>G|p.Met834Val|2627/7072|2500/6513|834/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|19/37|c.2650A>G|p.Met884Val|2777/7222|2650/6663|884/2220|| 22 24472173 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|19/37|c.2688C>T|p.His896His|3121/7528|2688/6663|896/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|18/36|c.2538C>T|p.His846His|2665/7072|2538/6513|846/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|19/37|c.2688C>T|p.His896His|2815/7222|2688/6663|896/2220|| 22 24472264 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|19/36|c.2748+31C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|18/35|c.2598+31C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|19/36|c.2748+31C>T|||||| 22 24472269 . C G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|19/36|c.2748+36C>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|18/35|c.2598+36C>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|19/36|c.2748+36C>G|||||| 22 24472270 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|19/36|c.2748+37A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|18/35|c.2598+37A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|19/36|c.2748+37A>G|||||| 22 24479150 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|19/36|c.2749-31C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|18/35|c.2599-31C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|19/36|c.2749-31C>T|||||| 22 24479178 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|19/36|c.2749-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|18/35|c.2599-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|19/36|c.2749-3C>T|||||| 22 24479193 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|20/37|c.2761C>G|p.Gln921Glu|3194/7528|2761/6663|921/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|19/36|c.2611C>G|p.Gln871Glu|2738/7072|2611/6513|871/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|20/37|c.2761C>G|p.Gln921Glu|2888/7222|2761/6663|921/2220|| 22 24479288 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|20/37|c.2856C>G|p.Ser952Arg|3289/7528|2856/6663|952/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|19/36|c.2706C>G|p.Ser902Arg|2833/7072|2706/6513|902/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|20/37|c.2856C>G|p.Ser952Arg|2983/7222|2856/6663|952/2220|| 22 24479371 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|20/36|c.2910+29G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|19/35|c.2760+29G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|20/36|c.2910+29G>A|||||| 22 24480503 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|20/36|c.2911-29G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|19/35|c.2761-29G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|20/36|c.2911-29G>A|||||| 22 24480504 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|20/36|c.2911-28C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|19/35|c.2761-28C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|20/36|c.2911-28C>T|||||| 22 24480717 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|21/37|c.3096C>T|p.Tyr1032Tyr|3529/7528|3096/6663|1032/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|20/36|c.2946C>T|p.Tyr982Tyr|3073/7072|2946/6513|982/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|21/37|c.3096C>T|p.Tyr1032Tyr|3223/7222|3096/6663|1032/2220|| 22 24480788 . TC T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|21/36|c.3117+51delC||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|20/35|c.2967+51delC||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|21/36|c.3117+51delC|||||| 22 24481006 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|22/37|c.3165C>G|p.Asn1055Lys|3598/7528|3165/6663|1055/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|21/36|c.3015C>G|p.Asn1005Lys|3142/7072|3015/6513|1005/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|22/37|c.3165C>G|p.Asn1055Lys|3292/7222|3165/6663|1055/2220|| 22 24481078 . G T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|22/37|c.3237G>T|p.Met1079Ile|3670/7528|3237/6663|1079/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|21/36|c.3087G>T|p.Met1029Ile|3214/7072|3087/6513|1029/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|22/37|c.3237G>T|p.Met1079Ile|3364/7222|3237/6663|1079/2220|| 22 24483387 . C A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|22/36|c.3264-18C>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|21/35|c.3114-18C>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|22/36|c.3264-18C>A|||||| 22 24483459 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|23/37|c.3318G>A|p.Lys1106Lys|3751/7528|3318/6663|1106/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|22/36|c.3168G>A|p.Lys1056Lys|3295/7072|3168/6513|1056/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|23/37|c.3318G>A|p.Lys1106Lys|3445/7222|3318/6663|1106/2220|| 22 24483477 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|23/37|c.3336G>A|p.Leu1112Leu|3769/7528|3336/6663|1112/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|22/36|c.3186G>A|p.Leu1062Leu|3313/7072|3186/6513|1062/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|23/37|c.3336G>A|p.Leu1112Leu|3463/7222|3336/6663|1112/2220|| 22 24483493 . A G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|23/37|c.3352A>G|p.Ile1118Val|3785/7528|3352/6663|1118/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|22/36|c.3202A>G|p.Ile1068Val|3329/7072|3202/6513|1068/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|23/37|c.3352A>G|p.Ile1118Val|3479/7222|3352/6663|1118/2220|| 22 24483609 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|23/37|c.3468C>T|p.Phe1156Phe|3901/7528|3468/6663|1156/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|22/36|c.3318C>T|p.Phe1106Phe|3445/7072|3318/6513|1106/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|23/37|c.3468C>T|p.Phe1156Phe|3595/7222|3468/6663|1156/2220|| 22 24483621 . A G . . ANN=G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|23/37|c.3480A>G|p.Gln1160Gln|3913/7528|3480/6663|1160/2220||,G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|22/36|c.3330A>G|p.Gln1110Gln|3457/7072|3330/6513|1110/2170||,G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|23/37|c.3480A>G|p.Gln1160Gln|3607/7222|3480/6663|1160/2220|| 22 24483708 . CCAGA C . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|23/36|c.3525+43_3525+46delCAGA||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|22/35|c.3375+43_3375+46delCAGA||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|23/36|c.3525+43_3525+46delCAGA|||||| 22 24487508 . G T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|23/36|c.3526-29G>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|22/35|c.3376-29G>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|23/36|c.3526-29G>T|||||| 22 24487546 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|24/37|c.3535C>T|p.Arg1179Trp|3968/7528|3535/6663|1179/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|23/36|c.3385C>T|p.Arg1129Trp|3512/7072|3385/6513|1129/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|24/37|c.3535C>T|p.Arg1179Trp|3662/7222|3535/6663|1179/2220|| 22 24487551 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|24/37|c.3540C>T|p.Arg1180Arg|3973/7528|3540/6663|1180/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|23/36|c.3390C>T|p.Arg1130Arg|3517/7072|3390/6513|1130/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|24/37|c.3540C>T|p.Arg1180Arg|3667/7222|3540/6663|1180/2220|| 22 24487702 . A C . . ANN=C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|24/37|c.3691A>C|p.Arg1231Arg|4124/7528|3691/6663|1231/2220||,C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|23/36|c.3541A>C|p.Arg1181Arg|3668/7072|3541/6513|1181/2170||,C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|24/37|c.3691A>C|p.Arg1231Arg|3818/7222|3691/6663|1231/2220|| 22 24487713 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|24/37|c.3702C>T|p.Gly1234Gly|4135/7528|3702/6663|1234/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|23/36|c.3552C>T|p.Gly1184Gly|3679/7072|3552/6513|1184/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|24/37|c.3702C>T|p.Gly1234Gly|3829/7222|3702/6663|1234/2220|| 22 24487738 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|24/37|c.3727C>T|p.Arg1243Cys|4160/7528|3727/6663|1243/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|23/36|c.3577C>T|p.Arg1193Cys|3704/7072|3577/6513|1193/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|24/37|c.3727C>T|p.Arg1243Cys|3854/7222|3727/6663|1243/2220|| 22 24487739 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|24/37|c.3728G>A|p.Arg1243His|4161/7528|3728/6663|1243/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|23/36|c.3578G>A|p.Arg1193His|3705/7072|3578/6513|1193/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|24/37|c.3728G>A|p.Arg1243His|3855/7222|3728/6663|1243/2220|| 22 24491878 . G T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|24/36|c.3787-16G>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|23/35|c.3637-16G>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|24/36|c.3787-16G>T|||||| 22 24492004 . T C . . ANN=C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|25/37|c.3897T>C|p.Phe1299Phe|4330/7528|3897/6663|1299/2220||,C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|24/36|c.3747T>C|p.Phe1249Phe|3874/7072|3747/6513|1249/2170||,C|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|25/37|c.3897T>C|p.Phe1299Phe|4024/7222|3897/6663|1299/2220|| 22 24492061 . T C . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|25/36|c.3938+16T>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|24/35|c.3788+16T>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|25/36|c.3938+16T>C|||||| 22 24493929 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|25/36|c.3939-48A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|24/35|c.3789-48A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|25/36|c.3939-48A>G|||||| 22 24509492 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|26/36|c.4118-41A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|25/35|c.3968-41A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|26/36|c.4118-41A>G|||||| 22 24509512 . T C . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|26/36|c.4118-21T>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|25/35|c.3968-21T>C||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|26/36|c.4118-21T>C|||||| 22 24509530 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|26/36|c.4118-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|25/35|c.3968-3C>T||||||,T|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|26/36|c.4118-3C>T|||||| 22 24509662 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|27/37|c.4247G>A|p.Ser1416Asn|4680/7528|4247/6663|1416/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|26/36|c.4097G>A|p.Ser1366Asn|4224/7072|4097/6513|1366/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|27/37|c.4247G>A|p.Ser1416Asn|4374/7222|4247/6663|1416/2220|| 22 24509680 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|27/37|c.4265C>T|p.Thr1422Met|4698/7528|4265/6663|1422/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|26/36|c.4115C>T|p.Thr1372Met|4242/7072|4115/6513|1372/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|27/37|c.4265C>T|p.Thr1422Met|4392/7222|4265/6663|1422/2220|| 22 24509711 . A G . . ANN=G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|27/37|c.4296A>G|p.Glu1432Glu|4729/7528|4296/6663|1432/2220||,G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|26/36|c.4146A>G|p.Glu1382Glu|4273/7072|4146/6513|1382/2170||,G|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|27/37|c.4296A>G|p.Glu1432Glu|4423/7222|4296/6663|1432/2220|| 22 24509732 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|27/36|c.4300+17C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|26/35|c.4150+17C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|27/36|c.4300+17C>T|||||| 22 24509733 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|27/36|c.4300+18G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|26/35|c.4150+18G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|27/36|c.4300+18G>A|||||| 22 24515286 . C A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|27/36|c.4301-48C>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|26/35|c.4151-48C>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|27/36|c.4301-48C>A|||||| 22 24515436 . G C . . ANN=C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|28/37|c.4403G>C|p.Gly1468Ala|4836/7528|4403/6663|1468/2220||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|27/36|c.4253G>C|p.Gly1418Ala|4380/7072|4253/6513|1418/2170||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|28/37|c.4403G>C|p.Gly1468Ala|4530/7222|4403/6663|1468/2220|| 22 24515581 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|28/37|c.4548C>T|p.Phe1516Phe|4981/7528|4548/6663|1516/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|27/36|c.4398C>T|p.Phe1466Phe|4525/7072|4398/6513|1466/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|28/37|c.4548C>T|p.Phe1516Phe|4675/7222|4548/6663|1516/2220|| 22 24515679 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|28/36|c.4632+14G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|27/35|c.4482+14G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|28/36|c.4632+14G>A|||||| 22 24530259 . G T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|28/36|c.4633-10G>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|27/35|c.4483-10G>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|28/36|c.4633-10G>T|||||| 22 24530286 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|29/37|c.4650C>T|p.Arg1550Arg|5083/7528|4650/6663|1550/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|28/36|c.4500C>T|p.Arg1500Arg|4627/7072|4500/6513|1500/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|29/37|c.4650C>T|p.Arg1550Arg|4777/7222|4650/6663|1550/2220|| 22 24530346 . G T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|29/37|c.4710G>T|p.Gly1570Gly|5143/7528|4710/6663|1570/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|28/36|c.4560G>T|p.Gly1520Gly|4687/7072|4560/6513|1520/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|29/37|c.4710G>T|p.Gly1570Gly|4837/7222|4710/6663|1570/2220|| 22 24530355 . C A . . ANN=A|stop_gained|HIGH|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|29/37|c.4719C>A|p.Cys1573*|5152/7528|4719/6663|1573/2220||,A|stop_gained|HIGH|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|28/36|c.4569C>A|p.Cys1523*|4696/7072|4569/6513|1523/2170||,A|stop_gained|HIGH|CABIN1|CABIN1|transcript|NM_012295.3|Coding|29/37|c.4719C>A|p.Cys1573*|4846/7222|4719/6663|1573/2220||;LOF=(CABIN1|CABIN1|3|1.00);NMD=(CABIN1|CABIN1|3|1.00) 22 24560427 . G T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|30/37|c.4806G>T|p.Met1602Ile|5239/7528|4806/6663|1602/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|29/36|c.4656G>T|p.Met1552Ile|4783/7072|4656/6513|1552/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|30/37|c.4806G>T|p.Met1602Ile|4933/7222|4806/6663|1602/2220|| 22 24560439 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|30/37|c.4818C>T|p.Ile1606Ile|5251/7528|4818/6663|1606/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|29/36|c.4668C>T|p.Ile1556Ile|4795/7072|4668/6513|1556/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|30/37|c.4818C>T|p.Ile1606Ile|4945/7222|4818/6663|1606/2220|| 22 24560478 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|30/37|c.4857C>T|p.His1619His|5290/7528|4857/6663|1619/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|29/36|c.4707C>T|p.His1569His|4834/7072|4707/6513|1569/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|30/37|c.4857C>T|p.His1619His|4984/7222|4857/6663|1619/2220|| 22 24560481 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|30/37|c.4860C>T|p.Ser1620Ser|5293/7528|4860/6663|1620/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|29/36|c.4710C>T|p.Ser1570Ser|4837/7072|4710/6513|1570/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|30/37|c.4860C>T|p.Ser1620Ser|4987/7222|4860/6663|1620/2220|| 22 24560517 . C A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|30/37|c.4896C>A|p.Thr1632Thr|5329/7528|4896/6663|1632/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|29/36|c.4746C>A|p.Thr1582Thr|4873/7072|4746/6513|1582/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|30/37|c.4896C>A|p.Thr1632Thr|5023/7222|4896/6663|1632/2220|| 22 24561463 . T A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|30/36|c.4911-35T>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|29/35|c.4761-35T>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|30/36|c.4911-35T>A|||||| 22 24561480 . AC A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|30/36|c.4911-17delC||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|29/35|c.4761-17delC||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|30/36|c.4911-17delC|||||| 22 24561534 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|31/37|c.4947G>A|p.Ala1649Ala|5380/7528|4947/6663|1649/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|30/36|c.4797G>A|p.Ala1599Ala|4924/7072|4797/6513|1599/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|31/37|c.4947G>A|p.Ala1649Ala|5074/7222|4947/6663|1649/2220|| 22 24561582 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|31/37|c.4995C>T|p.Ser1665Ser|5428/7528|4995/6663|1665/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|30/36|c.4845C>T|p.Ser1615Ser|4972/7072|4845/6513|1615/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|31/37|c.4995C>T|p.Ser1665Ser|5122/7222|4995/6663|1665/2220|| 22 24561624 . C T . . ANN=T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|31/36|c.5007+30C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|30/35|c.4857+30C>T||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|31/36|c.5007+30C>T|||||| 22 24562664 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5065G>A|p.Asp1689Asn|5498/7528|5065/6663|1689/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.4915G>A|p.Asp1639Asn|5042/7072|4915/6513|1639/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5065G>A|p.Asp1689Asn|5192/7222|5065/6663|1689/2220|| 22 24562844 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5245G>A|p.Asp1749Asn|5678/7528|5245/6663|1749/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5095G>A|p.Asp1699Asn|5222/7072|5095/6513|1699/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5245G>A|p.Asp1749Asn|5372/7222|5245/6663|1749/2220|| 22 24562852 . G C . . ANN=C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5253G>C|p.Glu1751Asp|5686/7528|5253/6663|1751/2220||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5103G>C|p.Glu1701Asp|5230/7072|5103/6513|1701/2170||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5253G>C|p.Glu1751Asp|5380/7222|5253/6663|1751/2220|| 22 24562940 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5341C>T|p.Pro1781Ser|5774/7528|5341/6663|1781/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5191C>T|p.Pro1731Ser|5318/7072|5191/6513|1731/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5341C>T|p.Pro1781Ser|5468/7222|5341/6663|1781/2220|| 22 24562944 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5345G>A|p.Gly1782Asp|5778/7528|5345/6663|1782/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5195G>A|p.Gly1732Asp|5322/7072|5195/6513|1732/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5345G>A|p.Gly1782Asp|5472/7222|5345/6663|1782/2220|| 22 24562970 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5371G>A|p.Glu1791Lys|5804/7528|5371/6663|1791/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5221G>A|p.Glu1741Lys|5348/7072|5221/6513|1741/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5371G>A|p.Glu1791Lys|5498/7222|5371/6663|1791/2220|| 22 24562977 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5378G>A|p.Arg1793Gln|5811/7528|5378/6663|1793/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5228G>A|p.Arg1743Gln|5355/7072|5228/6513|1743/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5378G>A|p.Arg1793Gln|5505/7222|5378/6663|1793/2220|| 22 24563038 . C A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5439C>A|p.Leu1813Leu|5872/7528|5439/6663|1813/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5289C>A|p.Leu1763Leu|5416/7072|5289/6513|1763/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5439C>A|p.Leu1813Leu|5566/7222|5439/6663|1813/2220|| 22 24563059 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5460C>T|p.Pro1820Pro|5893/7528|5460/6663|1820/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5310C>T|p.Pro1770Pro|5437/7072|5310/6513|1770/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5460C>T|p.Pro1820Pro|5587/7222|5460/6663|1820/2220|| 22 24563104 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5505C>T|p.His1835His|5938/7528|5505/6663|1835/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5355C>T|p.His1785His|5482/7072|5355/6513|1785/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5505C>T|p.His1835His|5632/7222|5505/6663|1835/2220|| 22 24563226 . A G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/37|c.5627A>G|p.Tyr1876Cys|6060/7528|5627/6663|1876/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/36|c.5477A>G|p.Tyr1826Cys|5604/7072|5477/6513|1826/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/37|c.5627A>G|p.Tyr1876Cys|5754/7222|5627/6663|1876/2220|| 22 24563309 . A G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/36|c.5682+28A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/35|c.5532+28A>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/36|c.5682+28A>G|||||| 22 24564371 . C A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/36|c.5683-44C>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/35|c.5533-44C>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/36|c.5683-44C>A|||||| 22 24564384 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/36|c.5683-31G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/35|c.5533-31G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/36|c.5683-31G>A|||||| 22 24564391 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|32/36|c.5683-24G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|31/35|c.5533-24G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|32/36|c.5683-24G>A|||||| 22 24564477 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|33/37|c.5745C>T|p.Ala1915Ala|6178/7528|5745/6663|1915/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|32/36|c.5595C>T|p.Ala1865Ala|5722/7072|5595/6513|1865/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|33/37|c.5745C>T|p.Ala1915Ala|5872/7222|5745/6663|1915/2220|| 22 24564516 . C G . . ANN=G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|33/36|c.5757+27C>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|32/35|c.5607+27C>G||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|33/36|c.5757+27C>G|||||| 22 24567673 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|33/36|c.5758-8C>G||||||,G|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|32/35|c.5608-8C>G||||||,G|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|33/36|c.5758-8C>G|||||| 22 24567744 . G C . . ANN=C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.5821G>C|p.Val1941Leu|6254/7528|5821/6663|1941/2220||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5671G>C|p.Val1891Leu|5798/7072|5671/6513|1891/2170||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.5821G>C|p.Val1941Leu|5948/7222|5821/6663|1941/2220|| 22 24567795 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.5872C>T|p.Arg1958Trp|6305/7528|5872/6663|1958/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5722C>T|p.Arg1908Trp|5849/7072|5722/6513|1908/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.5872C>T|p.Arg1958Trp|5999/7222|5872/6663|1958/2220|| 22 24567805 . A C . . ANN=C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.5882A>C|p.Asp1961Ala|6315/7528|5882/6663|1961/2220||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5732A>C|p.Asp1911Ala|5859/7072|5732/6513|1911/2170||,C|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.5882A>C|p.Asp1961Ala|6009/7222|5882/6663|1961/2220|| 22 24567823 . G T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.5900G>T|p.Arg1967Leu|6333/7528|5900/6663|1967/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5750G>T|p.Arg1917Leu|5877/7072|5750/6513|1917/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.5900G>T|p.Arg1967Leu|6027/7222|5900/6663|1967/2220|| 22 24567865 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.5942C>T|p.Pro1981Leu|6375/7528|5942/6663|1981/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5792C>T|p.Pro1931Leu|5919/7072|5792/6513|1931/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.5942C>T|p.Pro1981Leu|6069/7222|5942/6663|1981/2220|| 22 24567891 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.5968C>G|p.Gln1990Glu|6401/7528|5968/6663|1990/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5818C>G|p.Gln1940Glu|5945/7072|5818/6513|1940/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.5968C>G|p.Gln1990Glu|6095/7222|5968/6663|1990/2220|| 22 24567897 . A G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.5974A>G|p.Lys1992Glu|6407/7528|5974/6663|1992/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5824A>G|p.Lys1942Glu|5951/7072|5824/6513|1942/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.5974A>G|p.Lys1992Glu|6101/7222|5974/6663|1992/2220|| 22 24567910 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.5987C>T|p.Pro1996Leu|6420/7528|5987/6663|1996/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5837C>T|p.Pro1946Leu|5964/7072|5837/6513|1946/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.5987C>T|p.Pro1996Leu|6114/7222|5987/6663|1996/2220|| 22 24567940 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/37|c.6017C>T|p.Pro2006Leu|6450/7528|6017/6663|2006/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/36|c.5867C>T|p.Pro1956Leu|5994/7072|5867/6513|1956/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/37|c.6017C>T|p.Pro2006Leu|6144/7222|6017/6663|2006/2220|| 22 24568003 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/36|c.6040+40G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/35|c.5890+40G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/36|c.6040+40G>A|||||| 22 24568009 . A C,G,T . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/36|c.6040+46A>C||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/36|c.6040+46A>G||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/36|c.6040+46A>T||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/35|c.5890+46A>C||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/35|c.5890+46A>G||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/35|c.5890+46A>T||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/36|c.6040+46A>C||||||,G|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/36|c.6040+46A>G||||||,T|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/36|c.6040+46A>T|||||| 22 24572034 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|34/36|c.6041-45G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|33/35|c.5891-45G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|34/36|c.6041-45G>A|||||| 22 24572197 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|35/37|c.6159G>A|p.Pro2053Pro|6592/7528|6159/6663|2053/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|34/36|c.6009G>A|p.Pro2003Pro|6136/7072|6009/6513|2003/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|35/37|c.6159G>A|p.Pro2053Pro|6286/7222|6159/6663|2053/2220|| 22 24573434 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|35/36|c.6206-38G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|34/35|c.6056-38G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|35/36|c.6206-38G>A|||||| 22 24573435 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|35/36|c.6206-37G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|34/35|c.6056-37G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|35/36|c.6206-37G>A|||||| 22 24573537 . C T . . ANN=T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|36/37|c.6271C>T|p.Pro2091Ser|6704/7528|6271/6663|2091/2220||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|35/36|c.6121C>T|p.Pro2041Ser|6248/7072|6121/6513|2041/2170||,T|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|36/37|c.6271C>T|p.Pro2091Ser|6398/7222|6271/6663|2091/2220|| 22 24573593 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|36/37|c.6327C>T|p.Ala2109Ala|6760/7528|6327/6663|2109/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|35/36|c.6177C>T|p.Ala2059Ala|6304/7072|6177/6513|2059/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|36/37|c.6327C>T|p.Ala2109Ala|6454/7222|6327/6663|2109/2220|| 22 24573761 . G A . . ANN=A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|36/37|c.6495G>A|p.Ser2165Ser|6928/7528|6495/6663|2165/2220||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|35/36|c.6345G>A|p.Ser2115Ser|6472/7072|6345/6513|2115/2170||,A|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|36/37|c.6495G>A|p.Ser2165Ser|6622/7222|6495/6663|2165/2220|| 22 24573793 . CAG C . . ANN=C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|36/36|c.6519+9_6519+10delAG||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|35/35|c.6369+9_6369+10delAG||||||,C|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|36/36|c.6519+9_6519+10delAG|||||| 22 24573826 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|36/36|c.6519+41G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|35/35|c.6369+41G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|36/36|c.6519+41G>A|||||| 22 24573975 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|36/36|c.6520-46G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|35/35|c.6370-46G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|36/36|c.6520-46G>A|||||| 22 24574003 . G A . . ANN=A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|36/36|c.6520-18G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|35/35|c.6370-18G>A||||||,A|intron_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|36/36|c.6520-18G>A|||||| 22 24574017 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|36/36|c.6520-4G>A||||||,A|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|35/35|c.6370-4G>A||||||,A|splice_region_variant&intron_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|36/36|c.6520-4G>A|||||| 22 24574054 . G A . . ANN=A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|37/37|c.6553G>A|p.Val2185Met|6986/7528|6553/6663|2185/2220||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|36/36|c.6403G>A|p.Val2135Met|6530/7072|6403/6513|2135/2170||,A|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|37/37|c.6553G>A|p.Val2185Met|6680/7222|6553/6663|2185/2220|| 22 24574128 . C T . . ANN=T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|37/37|c.6627C>T|p.Ser2209Ser|7060/7528|6627/6663|2209/2220||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|36/36|c.6477C>T|p.Ser2159Ser|6604/7072|6477/6513|2159/2170||,T|synonymous_variant|LOW|CABIN1|CABIN1|transcript|NM_012295.3|Coding|37/37|c.6627C>T|p.Ser2209Ser|6754/7222|6627/6663|2209/2220|| 22 24574137 . C G . . ANN=G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|37/37|c.6636C>G|p.Asp2212Glu|7069/7528|6636/6663|2212/2220||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|36/36|c.6486C>G|p.Asp2162Glu|6613/7072|6486/6513|2162/2170||,G|missense_variant|MODERATE|CABIN1|CABIN1|transcript|NM_012295.3|Coding|37/37|c.6636C>G|p.Asp2212Glu|6763/7222|6636/6663|2212/2220|| 22 24574185 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|37/37|c.*21G>A|||||21|,A|3_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|36/36|c.*21G>A|||||21|,A|3_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|37/37|c.*21G>A|||||21| 22 24574189 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001199281.1|Coding|37/37|c.*25C>T|||||25|,T|3_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_001201429.1|Coding|36/36|c.*25C>T|||||25|,T|3_prime_UTR_variant|MODIFIER|CABIN1|CABIN1|transcript|NM_012295.3|Coding|37/37|c.*25C>T|||||25| 22 24577531 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|1/15|c.44C>T|p.Thr15Ile|88/3183|44/2469|15/822|| 22 24577538 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|1/15|c.51C>T|p.Leu17Leu|95/3183|51/2469|17/822|| 22 24579503 . T A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|3/15|c.328T>A|p.Ser110Thr|372/3183|328/2469|110/822|| 22 24579530 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|3/15|c.355C>T|p.Leu119Leu|399/3183|355/2469|119/822|| 22 24579597 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|3/15|c.422C>T|p.Ala141Val|466/3183|422/2469|141/822|| 22 24580150 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/15|c.486C>T|p.Asn162Asn|530/3183|486/2469|162/822|| 22 24580156 . G A . . ANN=A|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/15|c.492G>A|p.Thr164Thr|536/3183|492/2469|164/822|| 22 24580157 . C G . . ANN=G|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/15|c.493C>G|p.Arg165Gly|537/3183|493/2469|165/822|| 22 24580158 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/15|c.494G>A|p.Arg165His|538/3183|494/2469|165/822|| 22 24580172 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/15|c.508G>A|p.Gly170Ser|552/3183|508/2469|170/822|| 22 24580210 . G A . . ANN=A|stop_gained|HIGH|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/15|c.546G>A|p.Trp182*|590/3183|546/2469|182/822||;LOF=(SUSD2|SUSD2|1|1.00);NMD=(SUSD2|SUSD2|1|1.00) 22 24580261 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/15|c.597C>T|p.Tyr199Tyr|641/3183|597/2469|199/822|| 22 24580268 . A G . . ANN=G|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/15|c.604A>G|p.Thr202Ala|648/3183|604/2469|202/822|| 22 24580694 . C T . . ANN=T|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|4/14|c.608-40C>T|||||| 22 24580784 . CT C . . ANN=C|frameshift_variant|HIGH|SUSD2|SUSD2|transcript|NM_019601.3|Coding|5/15|c.659delT|p.Leu220fs|703/3183|659/2469|220/822||;LOF=(SUSD2|SUSD2|1|1.00) 22 24580807 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|5/15|c.681C>T|p.Ser227Ser|725/3183|681/2469|227/822|| 22 24580857 . G C . . ANN=C|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|5/15|c.731G>C|p.Trp244Ser|775/3183|731/2469|244/822|| 22 24580882 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|5/15|c.756C>T|p.Ile252Ile|800/3183|756/2469|252/822|| 22 24580897 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|5/15|c.771C>T|p.Tyr257Tyr|815/3183|771/2469|257/822|| 22 24580924 . T G . . ANN=G|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|5/14|c.782+16T>G|||||| 22 24581018 . G A . . ANN=A|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|5/14|c.783-44G>A|||||| 22 24581043 . A G . . ANN=G|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|5/14|c.783-19A>G|||||| 22 24581123 . C T . . ANN=T|stop_gained|HIGH|SUSD2|SUSD2|transcript|NM_019601.3|Coding|6/15|c.844C>T|p.Arg282*|888/3183|844/2469|282/822||;LOF=(SUSD2|SUSD2|1|1.00);NMD=(SUSD2|SUSD2|1|1.00) 22 24581124 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|6/15|c.845G>A|p.Arg282Gln|889/3183|845/2469|282/822|| 22 24581182 . T C . . ANN=C|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|6/15|c.903T>C|p.Asp301Asp|947/3183|903/2469|301/822|| 22 24581193 . A G . . ANN=G|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|6/15|c.914A>G|p.Asn305Ser|958/3183|914/2469|305/822|| 22 24581207 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|6/15|c.928C>T|p.Leu310Leu|972/3183|928/2469|310/822|| 22 24581477 . G T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|7/15|c.1008G>T|p.Glu336Asp|1052/3183|1008/2469|336/822|| 22 24581498 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|7/15|c.1029C>T|p.Tyr343Tyr|1073/3183|1029/2469|343/822|| 22 24581617 . T G . . ANN=G|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|7/14|c.1071-12T>G|||||| 22 24581634 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1076G>A|p.Arg359Gln|1120/3183|1076/2469|359/822|| 22 24581638 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1080C>T|p.Tyr360Tyr|1124/3183|1080/2469|360/822|| 22 24581671 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1113C>T|p.Asp371Asp|1157/3183|1113/2469|371/822|| 22 24581704 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1146C>T|p.Gly382Gly|1190/3183|1146/2469|382/822|| 22 24581769 . C G . . ANN=G|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1211C>G|p.Pro404Arg|1255/3183|1211/2469|404/822|| 22 24581831 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1273G>A|p.Asp425Asn|1317/3183|1273/2469|425/822|| 22 24581839 . C G . . ANN=G|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1281C>G|p.Pro427Pro|1325/3183|1281/2469|427/822|| 22 24581853 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1295G>A|p.Arg432Gln|1339/3183|1295/2469|432/822|| 22 24581865 . A G . . ANN=G|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/15|c.1307A>G|p.Asn436Ser|1351/3183|1307/2469|436/822|| 22 24581912 . G A . . ANN=A|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/14|c.1339+15G>A|||||| 22 24581921 . A T . . ANN=T|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|8/14|c.1339+24A>T|||||| 22 24582041 . A G . . ANN=G|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|9/15|c.1397A>G|p.Asn466Ser|1441/3183|1397/2469|466/822|| 22 24582080 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|9/15|c.1436C>T|p.Thr479Ile|1480/3183|1436/2469|479/822|| 22 24582093 . G A . . ANN=A|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|9/15|c.1449G>A|p.Val483Val|1493/3183|1449/2469|483/822|| 22 24582098 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|9/15|c.1454C>T|p.Ala485Val|1498/3183|1454/2469|485/822|| 22 24582101 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|9/15|c.1457G>A|p.Arg486Gln|1501/3183|1457/2469|486/822|| 22 24582151 . T C . . ANN=C|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|9/14|c.1483+24T>C|||||| 22 24582220 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|9/14|c.1484-5C>T|||||| 22 24582236 . C T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|10/15|c.1495C>T|p.Arg499Cys|1539/3183|1495/2469|499/822|| 22 24583138 . G A . . ANN=A|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|10/14|c.1643-32G>A|||||| 22 24583193 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/15|c.1666G>A|p.Gly556Arg|1710/3183|1666/2469|556/822|| 22 24583230 . G T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/15|c.1703G>T|p.Gly568Val|1747/3183|1703/2469|568/822|| 22 24583262 . A T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/15|c.1735A>T|p.Ser579Cys|1779/3183|1735/2469|579/822|| 22 24583270 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/15|c.1743C>T|p.Ser581Ser|1787/3183|1743/2469|581/822|| 22 24583271 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/15|c.1744G>A|p.Val582Ile|1788/3183|1744/2469|582/822|| 22 24583377 . C G . . ANN=G|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/15|c.1850C>G|p.Pro617Arg|1894/3183|1850/2469|617/822|| 22 24583384 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/15|c.1857C>T|p.Thr619Thr|1901/3183|1857/2469|619/822|| 22 24583436 . A G . . ANN=G|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/14|c.1891+18A>G|||||| 22 24583529 . T A . . ANN=A|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|11/14|c.1892-10T>A|||||| 22 24583544 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|12/15|c.1897G>A|p.Val633Met|1941/3183|1897/2469|633/822|| 22 24583574 . G A . . ANN=A|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|12/15|c.1927G>A|p.Asp643Asn|1971/3183|1927/2469|643/822|| 22 24583630 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|12/15|c.1983C>T|p.Phe661Phe|2027/3183|1983/2469|661/822|| 22 24583666 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|12/15|c.2019C>T|p.Pro673Pro|2063/3183|2019/2469|673/822|| 22 24583786 . G T . . ANN=T|missense_variant|MODERATE|SUSD2|SUSD2|transcript|NM_019601.3|Coding|12/15|c.2139G>T|p.Gln713His|2183/3183|2139/2469|713/822|| 22 24583829 . G A . . ANN=A|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|12/14|c.2164+18G>A|||||| 22 24583856 . C T . . ANN=T|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|12/14|c.2164+45C>T|||||| 22 24583879 . T C . . ANN=C|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|12/14|c.2165-48T>C|||||| 22 24583988 . G A . . ANN=A|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|13/15|c.2226G>A|p.Leu742Leu|2270/3183|2226/2469|742/822|| 22 24584021 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|13/15|c.2259C>T|p.Asn753Asn|2303/3183|2259/2469|753/822|| 22 24584048 . C T . . ANN=T|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|13/15|c.2286C>T|p.Thr762Thr|2330/3183|2286/2469|762/822|| 22 24584090 . G A . . ANN=A|synonymous_variant|LOW|SUSD2|SUSD2|transcript|NM_019601.3|Coding|13/15|c.2328G>A|p.Pro776Pro|2372/3183|2328/2469|776/822|| 22 24584179 . C G . . ANN=G|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|13/14|c.2342-14C>G|||||| 22 24584359 . C T . . ANN=T|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|14/14|c.2445-21C>T|||||| 22 24584366 . C A . . ANN=A|intron_variant|MODIFIER|SUSD2|SUSD2|transcript|NM_019601.3|Coding|14/14|c.2445-14C>A|||||| 22 24616013 . C T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|12/12|c.1689G>A|p.Gln563Gln|2106/2497|1689/1764|563/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|11/11|c.1590G>A|p.Gln530Gln|2007/2398|1590/1665|530/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|12/12|c.1686G>A|p.Gln562Gln|2103/2494|1686/1761|562/586|| 22 24616060 . G A . . ANN=A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|12/12|c.1642C>T|p.Arg548Cys|2059/2497|1642/1764|548/587||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|11/11|c.1543C>T|p.Arg515Cys|1960/2398|1543/1665|515/554||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|12/12|c.1639C>T|p.Arg547Cys|2056/2494|1639/1761|547/586|| 22 24621182 . G A . . ANN=A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|10/11|c.1506+31C>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|9/10|c.1407+31C>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|10/11|c.1503+31C>T|||||| 22 24621190 . C T . . ANN=T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|10/11|c.1506+23G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|9/10|c.1407+23G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|10/11|c.1503+23G>A|||||| 22 24621293 . T C . . ANN=C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|10/12|c.1426A>G|p.Ile476Val|1843/2497|1426/1764|476/587||,C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|9/11|c.1327A>G|p.Ile443Val|1744/2398|1327/1665|443/554||,C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|10/12|c.1423A>G|p.Ile475Val|1840/2494|1423/1761|475/586|| 22 24621324 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|10/12|c.1395C>T|p.Gly465Gly|1812/2497|1395/1764|465/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|9/11|c.1296C>T|p.Gly432Gly|1713/2398|1296/1665|432/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|10/12|c.1392C>T|p.Gly464Gly|1809/2494|1392/1761|464/586|| 22 24621394 . G A . . ANN=A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/11|c.1337-12C>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/10|c.1241-15C>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|9/11|c.1337-15C>T|||||| 22 24621465 . C T . . ANN=T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/11|c.1336+49G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/10|c.1240+49G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|9/11|c.1336+49G>A|||||| 22 24621474 . G A . . ANN=A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/11|c.1336+40C>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/10|c.1240+40C>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|9/11|c.1336+40C>T|||||| 22 24621491 . C T . . ANN=T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/11|c.1336+23G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/10|c.1240+23G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|9/11|c.1336+23G>A|||||| 22 24621493 . G C . . ANN=C|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/11|c.1336+21C>G||||||,C|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/10|c.1240+21C>G||||||,C|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|9/11|c.1336+21C>G|||||| 22 24621516 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/12|c.1334C>T|p.Pro445Leu|1751/2497|1334/1764|445/587||,A|missense_variant&splice_region_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/11|c.1238C>T|p.Pro413Leu|1655/2398|1238/1665|413/554||,A|missense_variant&splice_region_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|9/12|c.1334C>T|p.Pro445Leu|1751/2494|1334/1761|445/586|| 22 24621521 . G T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/12|c.1329C>A|p.Pro443Pro|1746/2497|1329/1764|443/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/11|c.1233C>A|p.Pro411Pro|1650/2398|1233/1665|411/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|9/12|c.1329C>A|p.Pro443Pro|1746/2494|1329/1761|443/586|| 22 24621538 . C T . . ANN=T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/12|c.1312G>A|p.Gly438Ser|1729/2497|1312/1764|438/587||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/11|c.1216G>A|p.Gly406Ser|1633/2398|1216/1665|406/554||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|9/12|c.1312G>A|p.Gly438Ser|1729/2494|1312/1761|438/586|| 22 24621540 . C T . . ANN=T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/12|c.1310G>A|p.Arg437Gln|1727/2497|1310/1764|437/587||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/11|c.1214G>A|p.Arg405Gln|1631/2398|1214/1665|405/554||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|9/12|c.1310G>A|p.Arg437Gln|1727/2494|1310/1761|437/586|| 22 24621541 . G A . . ANN=A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/12|c.1309C>T|p.Arg437Trp|1726/2497|1309/1764|437/587||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/11|c.1213C>T|p.Arg405Trp|1630/2398|1213/1665|405/554||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|9/12|c.1309C>T|p.Arg437Trp|1726/2494|1309/1761|437/586|| 22 24621543 . G A . . ANN=A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/12|c.1307C>T|p.Pro436Leu|1724/2497|1307/1764|436/587||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/11|c.1211C>T|p.Pro404Leu|1628/2398|1211/1665|404/554||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|9/12|c.1307C>T|p.Pro436Leu|1724/2494|1307/1761|436/586|| 22 24621599 . T G . . ANN=G|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/12|c.1251A>C|p.Ser417Ser|1668/2497|1251/1764|417/587||,G|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/11|c.1155A>C|p.Ser385Ser|1572/2398|1155/1665|385/554||,G|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|9/12|c.1251A>C|p.Ser417Ser|1668/2494|1251/1761|417/586|| 22 24621607 . C G . . ANN=G|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|9/12|c.1243G>C|p.Val415Leu|1660/2497|1243/1764|415/587||,G|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|8/11|c.1147G>C|p.Val383Leu|1564/2398|1147/1665|383/554||,G|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|9/12|c.1243G>C|p.Val415Leu|1660/2494|1243/1761|415/586|| 22 24622020 . C T . . ANN=T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|8/11|c.1229+24G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|7/10|c.1133+24G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|8/11|c.1229+24G>A|||||| 22 24622124 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|8/12|c.1149C>T|p.Gly383Gly|1566/2497|1149/1764|383/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|7/11|c.1053C>T|p.Gly351Gly|1470/2398|1053/1665|351/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|8/12|c.1149C>T|p.Gly383Gly|1566/2494|1149/1761|383/586|| 22 24622136 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|8/12|c.1137C>T|p.Ala379Ala|1554/2497|1137/1764|379/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|7/11|c.1041C>T|p.Ala347Ala|1458/2398|1041/1665|347/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|8/12|c.1137C>T|p.Ala379Ala|1554/2494|1137/1761|379/586|| 22 24622284 . C T . . ANN=T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|7/11|c.1039-50G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|6/10|c.943-50G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|7/11|c.1039-50G>A|||||| 22 24622608 . C T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|7/12|c.1029G>A|p.Pro343Pro|1446/2497|1029/1764|343/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|6/11|c.933G>A|p.Pro311Pro|1350/2398|933/1665|311/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|7/12|c.1029G>A|p.Pro343Pro|1446/2494|1029/1761|343/586|| 22 24622648 . T C . . ANN=C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|7/12|c.989A>G|p.Lys330Arg|1406/2497|989/1764|330/587||,C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|6/11|c.893A>G|p.Lys298Arg|1310/2398|893/1665|298/554||,C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|7/12|c.989A>G|p.Lys330Arg|1406/2494|989/1761|330/586|| 22 24622656 . C T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|7/12|c.981G>A|p.Lys327Lys|1398/2497|981/1764|327/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|6/11|c.885G>A|p.Lys295Lys|1302/2398|885/1665|295/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|7/12|c.981G>A|p.Lys327Lys|1398/2494|981/1761|327/586|| 22 24622734 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|7/12|c.903G>A|p.Gly301Gly|1320/2497|903/1764|301/587||,T|splice_region_variant&synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|6/11|c.807G>A|p.Gly269Gly|1224/2398|807/1665|269/554||,T|splice_region_variant&synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|7/12|c.903G>A|p.Gly301Gly|1320/2494|903/1761|301/586|| 22 24627309 . C T . . ANN=T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|6/11|c.901+43G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|5/10|c.805+43G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|6/11|c.901+43G>A|||||| 22 24627416 . G T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|6/12|c.837C>A|p.Thr279Thr|1254/2497|837/1764|279/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|5/11|c.741C>A|p.Thr247Thr|1158/2398|741/1665|247/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|6/12|c.837C>A|p.Thr279Thr|1254/2494|837/1761|279/586|| 22 24627458 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|6/12|c.795C>T|p.Pro265Pro|1212/2497|795/1764|265/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|5/11|c.699C>T|p.Pro233Pro|1116/2398|699/1665|233/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|6/12|c.795C>T|p.Pro265Pro|1212/2494|795/1761|265/586|| 22 24627540 . T A . . ANN=A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|5/11|c.755-42A>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|4/10|c.659-42A>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|5/11|c.755-42A>T|||||| 22 24628062 . C T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|5/12|c.711G>A|p.Thr237Thr|1128/2497|711/1764|237/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|4/11|c.615G>A|p.Thr205Thr|1032/2398|615/1665|205/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|5/12|c.711G>A|p.Thr237Thr|1128/2494|711/1761|237/586|| 22 24628161 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|5/12|c.612C>T|p.Asn204Asn|1029/2497|612/1764|204/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|4/11|c.516C>T|p.Asn172Asn|933/2398|516/1665|172/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|5/12|c.612C>T|p.Asn204Asn|1029/2494|612/1761|204/586|| 22 24628763 . G T . . ANN=T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|4/11|c.596+28C>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|3/10|c.500+28C>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|4/11|c.596+28C>A|||||| 22 24628852 . CAG C . . ANN=C|frameshift_variant|HIGH|GGT5|GGT5|transcript|NM_001099781.1|Coding|4/12|c.533_534delCT|p.Pro178fs|951/2497|533/1764|178/587||,C|frameshift_variant|HIGH|GGT5|GGT5|transcript|NM_001099782.1|Coding|3/11|c.437_438delCT|p.Pro146fs|855/2398|437/1665|146/554||,C|frameshift_variant|HIGH|GGT5|GGT5|transcript|NM_004121.2|Coding|4/12|c.533_534delCT|p.Pro178fs|951/2494|533/1761|178/586||;LOF=(GGT5|GGT5|3|1.00) 22 24628872 . C T . . ANN=T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|4/12|c.515G>A|p.Gly172Glu|932/2497|515/1764|172/587||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|3/11|c.419G>A|p.Gly140Glu|836/2398|419/1665|140/554||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|4/12|c.515G>A|p.Gly172Glu|932/2494|515/1761|172/586|| 22 24628895 . C T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|4/12|c.492G>A|p.Gln164Gln|909/2497|492/1764|164/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|3/11|c.396G>A|p.Gln132Gln|813/2398|396/1665|132/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|4/12|c.492G>A|p.Gln164Gln|909/2494|492/1761|164/586|| 22 24628908 . G A . . ANN=A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|4/12|c.479C>T|p.Ala160Val|896/2497|479/1764|160/587||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|3/11|c.383C>T|p.Ala128Val|800/2398|383/1665|128/554||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|4/12|c.479C>T|p.Ala160Val|896/2494|479/1761|160/586|| 22 24628928 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|4/12|c.459C>T|p.Arg153Arg|876/2497|459/1764|153/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|3/11|c.363C>T|p.Arg121Arg|780/2398|363/1665|121/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|4/12|c.459C>T|p.Arg153Arg|876/2494|459/1761|153/586|| 22 24629461 . G A,T . . ANN=A|splice_region_variant&intron_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|3/11|c.400+5C>T||||||,T|splice_region_variant&intron_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|3/11|c.400+5C>A||||||,A|splice_region_variant&intron_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|3/11|c.400+5C>T||||||,T|splice_region_variant&intron_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|3/11|c.400+5C>A||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/10|c.304+381C>T||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/10|c.304+381C>A|||||| 22 24629478 . G A . . ANN=A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|3/12|c.388C>T|p.Pro130Ser|805/2497|388/1764|130/587||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|3/12|c.388C>T|p.Pro130Ser|805/2494|388/1761|130/586||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/10|c.304+364C>T|||||| 22 24629596 . C T . . ANN=T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/11|c.305-35G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/10|c.304+246G>A||||||,T|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|2/11|c.305-35G>A|||||| 22 24629793 . T C . . ANN=C|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/11|c.304+49A>G||||||,C|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/10|c.304+49A>G||||||,C|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|2/11|c.304+49A>G|||||| 22 24629795 . G A . . ANN=A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/11|c.304+47C>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/10|c.304+47C>T||||||,A|intron_variant|MODIFIER|GGT5|GGT5|transcript|NM_004121.2|Coding|2/11|c.304+47C>T|||||| 22 24629879 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/12|c.267C>T|p.Gly89Gly|684/2497|267/1764|89/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/11|c.267C>T|p.Gly89Gly|684/2398|267/1665|89/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|2/12|c.267C>T|p.Gly89Gly|684/2494|267/1761|89/586|| 22 24629905 . C T . . ANN=T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/12|c.241G>A|p.Val81Ile|658/2497|241/1764|81/587||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/11|c.241G>A|p.Val81Ile|658/2398|241/1665|81/554||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|2/12|c.241G>A|p.Val81Ile|658/2494|241/1761|81/586|| 22 24629906 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/12|c.240C>T|p.Val80Val|657/2497|240/1764|80/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/11|c.240C>T|p.Val80Val|657/2398|240/1665|80/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|2/12|c.240C>T|p.Val80Val|657/2494|240/1761|80/586|| 22 24629908 . C T . . ANN=T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/12|c.238G>A|p.Val80Ile|655/2497|238/1764|80/587||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/11|c.238G>A|p.Val80Ile|655/2398|238/1665|80/554||,T|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|2/12|c.238G>A|p.Val80Ile|655/2494|238/1761|80/586|| 22 24629912 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/12|c.234C>T|p.Thr78Thr|651/2497|234/1764|78/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/11|c.234C>T|p.Thr78Thr|651/2398|234/1665|78/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|2/12|c.234C>T|p.Thr78Thr|651/2494|234/1761|78/586|| 22 24629930 . G A . . ANN=A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/12|c.216C>T|p.Ile72Ile|633/2497|216/1764|72/587||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/11|c.216C>T|p.Ile72Ile|633/2398|216/1665|72/554||,A|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|2/12|c.216C>T|p.Ile72Ile|633/2494|216/1761|72/586|| 22 24629959 . G C . . ANN=C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|2/12|c.187C>G|p.Gln63Glu|604/2497|187/1764|63/587||,C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|2/11|c.187C>G|p.Gln63Glu|604/2398|187/1665|63/554||,C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|2/12|c.187C>G|p.Gln63Glu|604/2494|187/1761|63/586|| 22 24640574 . G T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|1/12|c.120C>A|p.Ala40Ala|537/2497|120/1764|40/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|1/11|c.120C>A|p.Ala40Ala|537/2398|120/1665|40/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|1/12|c.120C>A|p.Ala40Ala|537/2494|120/1761|40/586|| 22 24640666 . T C . . ANN=C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|1/12|c.28A>G|p.Ser10Gly|445/2497|28/1764|10/587||,C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|1/11|c.28A>G|p.Ser10Gly|445/2398|28/1665|10/554||,C|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|1/12|c.28A>G|p.Ser10Gly|445/2494|28/1761|10/586|| 22 24640670 . C T . . ANN=T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099781.1|Coding|1/12|c.24G>A|p.Thr8Thr|441/2497|24/1764|8/587||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_001099782.1|Coding|1/11|c.24G>A|p.Thr8Thr|441/2398|24/1665|8/554||,T|synonymous_variant|LOW|GGT5|GGT5|transcript|NM_004121.2|Coding|1/12|c.24G>A|p.Thr8Thr|441/2494|24/1761|8/586|| 22 24640687 . G A . . ANN=A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099781.1|Coding|1/12|c.7C>T|p.Arg3Trp|424/2497|7/1764|3/587||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_001099782.1|Coding|1/11|c.7C>T|p.Arg3Trp|424/2398|7/1665|3/554||,A|missense_variant|MODERATE|GGT5|GGT5|transcript|NM_004121.2|Coding|1/12|c.7C>T|p.Arg3Trp|424/2494|7/1761|3/586|| 22 24698155 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|1/15|c.-37-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|2/19|n.272-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|1/14|c.-37-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|2/16|c.-37-8T>C|||||| 22 24698357 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|2/15|c.153+5T>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|3/19|n.461+5T>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|2/14|c.153+5T>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|3/16|c.153+5T>G|||||| 22 24709270 . G A . . ANN=A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|2/15|c.154-11G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|3/19|n.462-11G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|2/14|c.154-11G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|3/16|c.154-11G>A|||||| 22 24709420 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|3/16|c.293C>T|p.Ser98Phe|497/6675|293/3354|98/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|3/15|c.293C>T|p.Ser98Phe|497/6558|293/3237|98/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|4/17|c.293C>T|p.Ser98Phe|601/6779|293/3354|98/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|4/20|n.601C>T|||||| 22 24717258 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.310A>G|p.Thr104Ala|514/6675|310/3354|104/1117||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.310A>G|p.Thr104Ala|514/6558|310/3237|104/1078||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.310A>G|p.Thr104Ala|618/6779|310/3354|104/1117||,G|splice_region_variant&non_coding_exon_variant|LOW|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.618A>G|||||| 22 24717411 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.463C>T|p.Arg155Cys|667/6675|463/3354|155/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.463C>T|p.Arg155Cys|667/6558|463/3237|155/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.463C>T|p.Arg155Cys|771/6779|463/3354|155/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.771C>T|||||| 22 24717444 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.496A>G|p.Met166Val|700/6675|496/3354|166/1117||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.496A>G|p.Met166Val|700/6558|496/3237|166/1078||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.496A>G|p.Met166Val|804/6779|496/3354|166/1117||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.804A>G|||||| 22 24717510 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.562C>T|p.Leu188Phe|766/6675|562/3354|188/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.562C>T|p.Leu188Phe|766/6558|562/3237|188/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.562C>T|p.Leu188Phe|870/6779|562/3354|188/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.870C>T|||||| 22 24717517 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.569C>T|p.Thr190Met|773/6675|569/3354|190/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.569C>T|p.Thr190Met|773/6558|569/3237|190/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.569C>T|p.Thr190Met|877/6779|569/3354|190/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.877C>T|||||| 22 24717518 . G A . . ANN=A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.570G>A|p.Thr190Thr|774/6675|570/3354|190/1117||,A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.570G>A|p.Thr190Thr|774/6558|570/3237|190/1078||,A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.570G>A|p.Thr190Thr|878/6779|570/3354|190/1117||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.878G>A|||||| 22 24717548 . A T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.600A>T|p.Leu200Phe|804/6675|600/3354|200/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.600A>T|p.Leu200Phe|804/6558|600/3237|200/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.600A>T|p.Leu200Phe|908/6779|600/3354|200/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.908A>T|||||| 22 24717602 . T A . . ANN=A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.654T>A|p.Asp218Glu|858/6675|654/3354|218/1117||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.654T>A|p.Asp218Glu|858/6558|654/3237|218/1078||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.654T>A|p.Asp218Glu|962/6779|654/3354|218/1117||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.962T>A|||||| 22 24717637 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.689C>T|p.Thr230Ile|893/6675|689/3354|230/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.689C>T|p.Thr230Ile|893/6558|689/3237|230/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.689C>T|p.Thr230Ile|997/6779|689/3354|230/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.997C>T|||||| 22 24717655 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.707C>T|p.Pro236Leu|911/6675|707/3354|236/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.707C>T|p.Pro236Leu|911/6558|707/3237|236/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.707C>T|p.Pro236Leu|1015/6779|707/3354|236/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1015C>T|||||| 22 24717820 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.872A>G|p.Tyr291Cys|1076/6675|872/3354|291/1117||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.872A>G|p.Tyr291Cys|1076/6558|872/3237|291/1078||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.872A>G|p.Tyr291Cys|1180/6779|872/3354|291/1117||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1180A>G|||||| 22 24717843 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.895A>G|p.Thr299Ala|1099/6675|895/3354|299/1117||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.895A>G|p.Thr299Ala|1099/6558|895/3237|299/1078||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.895A>G|p.Thr299Ala|1203/6779|895/3354|299/1117||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1203A>G|||||| 22 24717850 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.902A>G|p.Asp301Gly|1106/6675|902/3354|301/1117||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.902A>G|p.Asp301Gly|1106/6558|902/3237|301/1078||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.902A>G|p.Asp301Gly|1210/6779|902/3354|301/1117||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1210A>G|||||| 22 24717974 . G A . . ANN=A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1026G>A|p.Met342Ile|1230/6675|1026/3354|342/1117||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1026G>A|p.Met342Ile|1230/6558|1026/3237|342/1078||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1026G>A|p.Met342Ile|1334/6779|1026/3354|342/1117||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1334G>A|||||| 22 24718096 . G C . . ANN=C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1148G>C|p.Gly383Ala|1352/6675|1148/3354|383/1117||,C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1148G>C|p.Gly383Ala|1352/6558|1148/3237|383/1078||,C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1148G>C|p.Gly383Ala|1456/6779|1148/3354|383/1117||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1456G>C|||||| 22 24718209 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1261C>T|p.Leu421Leu|1465/6675|1261/3354|421/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1261C>T|p.Leu421Leu|1465/6558|1261/3237|421/1078||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1261C>T|p.Leu421Leu|1569/6779|1261/3354|421/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1569C>T|||||| 22 24718253 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1305C>T|p.Asn435Asn|1509/6675|1305/3354|435/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1305C>T|p.Asn435Asn|1509/6558|1305/3237|435/1078||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1305C>T|p.Asn435Asn|1613/6779|1305/3354|435/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1613C>T|||||| 22 24718277 . T G . . ANN=G|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1329T>G|p.Val443Val|1533/6675|1329/3354|443/1117||,G|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1329T>G|p.Val443Val|1533/6558|1329/3237|443/1078||,G|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1329T>G|p.Val443Val|1637/6779|1329/3354|443/1117||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1637T>G|||||| 22 24718288 . A G . . ANN=G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1340A>G|p.Glu447Gly|1544/6675|1340/3354|447/1117||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1340A>G|p.Glu447Gly|1544/6558|1340/3237|447/1078||,G|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1340A>G|p.Glu447Gly|1648/6779|1340/3354|447/1117||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1648A>G|||||| 22 24718307 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1359C>T|p.Ser453Ser|1563/6675|1359/3354|453/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1359C>T|p.Ser453Ser|1563/6558|1359/3237|453/1078||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1359C>T|p.Ser453Ser|1667/6779|1359/3354|453/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1667C>T|||||| 22 24718408 . G A . . ANN=A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1460G>A|p.Arg487His|1664/6675|1460/3354|487/1117||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1460G>A|p.Arg487His|1664/6558|1460/3237|487/1078||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1460G>A|p.Arg487His|1768/6779|1460/3354|487/1117||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1768G>A|||||| 22 24718490 . G A . . ANN=A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1542G>A|p.Gln514Gln|1746/6675|1542/3354|514/1117||,A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1542G>A|p.Gln514Gln|1746/6558|1542/3237|514/1078||,A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1542G>A|p.Gln514Gln|1850/6779|1542/3354|514/1117||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.1850G>A|||||| 22 24718677 . A C . . ANN=C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1729A>C|p.Asn577His|1933/6675|1729/3354|577/1117||,C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1729A>C|p.Asn577His|1933/6558|1729/3237|577/1078||,C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1729A>C|p.Asn577His|2037/6779|1729/3354|577/1117||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.2037A>C|||||| 22 24718681 . G A . . ANN=A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|4/16|c.1733G>A|p.Arg578His|1937/6675|1733/3354|578/1117||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|4/15|c.1733G>A|p.Arg578His|1937/6558|1733/3237|578/1078||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|5/17|c.1733G>A|p.Arg578His|2041/6779|1733/3354|578/1117||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|5/20|n.2041G>A|||||| 22 24720219 . A C . . ANN=C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|5/16|c.1970A>C|p.Glu657Ala|2174/6675|1970/3354|657/1117||,C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|5/15|c.1970A>C|p.Glu657Ala|2174/6558|1970/3237|657/1078||,C|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|6/17|c.1970A>C|p.Glu657Ala|2278/6779|1970/3354|657/1117||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|6/20|n.2278A>C|||||| 22 24720253 . G A . . ANN=A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|5/16|c.2004G>A|p.Thr668Thr|2208/6675|2004/3354|668/1117||,A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|5/15|c.2004G>A|p.Thr668Thr|2208/6558|2004/3237|668/1078||,A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|6/17|c.2004G>A|p.Thr668Thr|2312/6779|2004/3354|668/1117||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|6/20|n.2312G>A|||||| 22 24724816 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|6/16|c.2149A>G|p.Thr717Ala|2353/6675|2149/3354|717/1117||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|6/15|c.2149A>G|p.Thr717Ala|2353/6558|2149/3237|717/1078||,G|missense_variant&splice_region_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|7/17|c.2149A>G|p.Thr717Ala|2457/6779|2149/3354|717/1117||,G|splice_region_variant&non_coding_exon_variant|LOW|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|7/20|n.2457A>G|||||| 22 24724872 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|6/16|c.2205C>T|p.Leu735Leu|2409/6675|2205/3354|735/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|6/15|c.2205C>T|p.Leu735Leu|2409/6558|2205/3237|735/1078||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|7/17|c.2205C>T|p.Leu735Leu|2513/6779|2205/3354|735/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|7/20|n.2513C>T|||||| 22 24726329 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|7/16|c.2326C>T|p.Arg776Cys|2530/6675|2326/3354|776/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|7/15|c.2326C>T|p.Arg776Cys|2530/6558|2326/3237|776/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|8/17|c.2326C>T|p.Arg776Cys|2634/6779|2326/3354|776/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|8/20|n.2634C>T|||||| 22 24726430 . T C . . ANN=C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|7/15|c.2396+31T>C||||||,C|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|8/19|n.2704+31T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|7/14|c.2396+31T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|8/16|c.2396+31T>C|||||| 22 24730340 . C T . . ANN=T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|7/15|c.2397-38C>T||||||,T|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|8/19|n.2705-38C>T||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|7/14|c.2397-38C>T||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|8/16|c.2397-38C>T|||||| 22 24730420 . C T . . ANN=T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|8/16|c.2439C>T|p.Ala813Ala|2643/6675|2439/3354|813/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|8/15|c.2439C>T|p.Ala813Ala|2643/6558|2439/3237|813/1078||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|9/17|c.2439C>T|p.Ala813Ala|2747/6779|2439/3354|813/1117||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|9/20|n.2747C>T|||||| 22 24730548 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|8/15|c.2560+7A>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|9/19|n.2868+7A>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|8/14|c.2560+7A>G||||||,G|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|9/16|c.2560+7A>G|||||| 22 24730554 . T C . . ANN=C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|8/15|c.2560+13T>C||||||,C|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|9/19|n.2868+13T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|8/14|c.2560+13T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|9/16|c.2560+13T>C|||||| 22 24730558 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|8/15|c.2560+17A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|9/19|n.2868+17A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|8/14|c.2560+17A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|9/16|c.2560+17A>G|||||| 22 24730578 . G A . . ANN=A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|8/15|c.2560+37G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|9/19|n.2868+37G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|8/14|c.2560+37G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|9/16|c.2560+37G>A|||||| 22 24730582 . G A . . ANN=A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|8/15|c.2560+41G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|9/19|n.2868+41G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|8/14|c.2560+41G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|9/16|c.2560+41G>A|||||| 22 24730587 . C T . . ANN=T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|8/15|c.2560+46C>T||||||,T|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|9/19|n.2868+46C>T||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|8/14|c.2560+46C>T||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|9/16|c.2560+46C>T|||||| 22 24734322 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|8/15|c.2561-32A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|9/19|n.2869-32A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|8/14|c.2561-32A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|9/16|c.2561-32A>G|||||| 22 24734452 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|9/15|c.2652+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|10/19|n.2960+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|9/14|c.2652+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|10/16|c.2652+7G>T|||||| 22 24734459 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|9/15|c.2652+14A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|10/19|n.2960+14A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|9/14|c.2652+14A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|10/16|c.2652+14A>G|||||| 22 24734474 . T C . . ANN=C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|9/15|c.2652+29T>C||||||,C|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|10/19|n.2960+29T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|9/14|c.2652+29T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|10/16|c.2652+29T>C|||||| 22 24743056 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|10/16|c.2655A>G|p.Arg885Arg|2859/6675|2655/3354|885/1117||,G|splice_region_variant&non_coding_exon_variant|LOW|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|12/20|n.3085A>G||||||,G|splice_region_variant&synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|10/15|c.2655A>G|p.Arg885Arg|2859/6558|2655/3237|885/1078||,G|splice_region_variant&synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|11/17|c.2655A>G|p.Arg885Arg|2963/6779|2655/3354|885/1117||,G|splice_region_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|3/9|c.-148A>G||||||,G|5_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|3/9|c.-148A>G|||||16232| 22 24743090 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|10/16|c.2689C>T|p.Pro897Ser|2893/6675|2689/3354|897/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|10/15|c.2689C>T|p.Pro897Ser|2893/6558|2689/3237|897/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|11/17|c.2689C>T|p.Pro897Ser|2997/6779|2689/3354|897/1117||,T|5_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|3/9|c.-114C>T|||||16198|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|12/20|n.3119C>T|||||| 22 24743154 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|10/15|c.2743+10A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|12/19|n.3173+10A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|10/14|c.2743+10A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|11/16|c.2743+10A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|3/8|c.-60+10A>G|||||| 22 24743183 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|10/15|c.2743+39A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|12/19|n.3173+39A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|10/14|c.2743+39A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|11/16|c.2743+39A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|3/8|c.-60+39A>G|||||| 22 24759206 . G A . . ANN=A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|10/15|c.2744-23G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|12/19|n.3174-23G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|10/14|c.2744-23G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|11/16|c.2744-23G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|3/8|c.-59-23G>A|||||| 22 24759213 . T C . . ANN=C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|10/15|c.2744-16T>C||||||,C|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|12/19|n.3174-16T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|10/14|c.2744-16T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|11/16|c.2744-16T>C||||||,C|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|3/8|c.-59-16T>C|||||| 22 24759287 . G A . . ANN=A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|11/16|c.2802G>A|p.Ala934Ala|3006/6675|2802/3354|934/1117||,A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|11/15|c.2802G>A|p.Ala934Ala|3006/6558|2802/3237|934/1078||,A|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|12/17|c.2802G>A|p.Ala934Ala|3110/6779|2802/3354|934/1117||,A|5_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|4/9|c.-1G>A|||||1|,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|13/20|n.3232G>A|||||| 22 24759331 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|11/15|c.2827+19A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|13/19|n.3257+19A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|11/14|c.2827+19A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|12/16|c.2827+19A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|4/8|c.25+19A>G|||||| 22 24761415 . A G . . ANN=G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|11/15|c.2828-29A>G||||||,G|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|13/19|n.3258-29A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|11/14|c.2828-29A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|12/16|c.2828-29A>G||||||,G|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|4/8|c.26-29A>G|||||| 22 24761467 . G A . . ANN=A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|12/16|c.2851G>A|p.Val951Met|3055/6675|2851/3354|951/1117||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|12/15|c.2851G>A|p.Val951Met|3055/6558|2851/3237|951/1078||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|13/17|c.2851G>A|p.Val951Met|3159/6779|2851/3354|951/1117||,A|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|5/9|c.49G>A|p.Val17Met|594/4214|49/552|17/183||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|14/20|n.3281G>A|||||| 22 24761498 . C T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|12/16|c.2882C>T|p.Ala961Val|3086/6675|2882/3354|961/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|12/15|c.2882C>T|p.Ala961Val|3086/6558|2882/3237|961/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|13/17|c.2882C>T|p.Ala961Val|3190/6779|2882/3354|961/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|5/9|c.80C>T|p.Ala27Val|625/4214|80/552|27/183||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|14/20|n.3312C>T|||||| 22 24761514 . G T . . ANN=T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|12/16|c.2898G>T|p.Leu966Leu|3102/6675|2898/3354|966/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|12/15|c.2898G>T|p.Leu966Leu|3102/6558|2898/3237|966/1078||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|13/17|c.2898G>T|p.Leu966Leu|3206/6779|2898/3354|966/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|5/9|c.96G>T|p.Leu32Leu|641/4214|96/552|32/183||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|14/20|n.3328G>T|||||| 22 24761568 . A T . . ANN=T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|12/16|c.2952A>T|p.Ala984Ala|3156/6675|2952/3354|984/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|12/15|c.2952A>T|p.Ala984Ala|3156/6558|2952/3237|984/1078||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|13/17|c.2952A>T|p.Ala984Ala|3260/6779|2952/3354|984/1117||,T|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|5/9|c.150A>T|p.Ala50Ala|695/4214|150/552|50/183||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|14/20|n.3382A>T|||||| 22 24761646 . G A . . ANN=A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|12/15|c.2984+46G>A||||||,A|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|14/19|n.3414+46G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|12/14|c.2984+46G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|13/16|c.2984+46G>A||||||,A|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|5/8|c.182+46G>A|||||| 22 24765214 . T C . . ANN=C|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|13/16|c.3013T>C|p.Leu1005Leu|3217/6675|3013/3354|1005/1117||,C|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|13/15|c.3013T>C|p.Leu1005Leu|3217/6558|3013/3237|1005/1078||,C|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|14/17|c.3013T>C|p.Leu1005Leu|3321/6779|3013/3354|1005/1117||,C|synonymous_variant|LOW|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|6/9|c.211T>C|p.Leu71Leu|756/4214|211/552|71/183||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|15/20|n.3443T>C|||||| 22 24808628 . A T . . ANN=T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|15/16|c.3217A>T|p.Met1073Leu|3421/6675|3217/3354|1073/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|14/15|c.3100A>T|p.Met1034Leu|3304/6558|3100/3237|1034/1078||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|16/17|c.3217A>T|p.Met1073Leu|3525/6779|3217/3354|1073/1117||,T|missense_variant|MODERATE|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|8/9|c.415A>T|p.Met139Leu|960/4214|415/552|139/183||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|17/20|n.3647A>T|||||| 22 24808709 . C T . . ANN=T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|15/15|c.3264+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|17/19|n.3694+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|14/14|c.3147+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|16/16|c.3264+34C>T||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|8/8|c.462+34C>T|||||| 22 24808722 . TAAG T . . ANN=T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|15/15|c.3264+48_3264+50delAAG||||||,T|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|17/19|n.3694+48_3694+50delAAG||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|14/14|c.3147+48_3147+50delAAG||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|16/16|c.3264+48_3264+50delAAG||||||,T|intron_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|8/8|c.462+48_462+50delAAG|||||| 22 24810611 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|16/16|c.*20C>T|||||20|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|15/15|c.*20C>T|||||20|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|17/17|c.*20C>T|||||20|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|9/9|c.*20C>T|||||20|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|18/20|n.3804C>T|||||| 22 24810638 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001145468.3|Coding|16/16|c.*47C>T|||||47|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254732.2|Coding|15/15|c.*47C>T|||||47|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_015330.4|Coding|17/17|c.*47C>T|||||47|,T|3_prime_UTR_variant|MODIFIER|SPECC1L|SPECC1L|transcript|NM_001254733.1|Coding|9/9|c.*47C>T|||||47|,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|18/20|n.3831C>T|||||| 22 24829383 . T C . . ANN=C|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|2/3|c.11T>C|p.Met4Thr|470/2569|11/1239|4/412||,C|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|2/3|c.11T>C|p.Met4Thr|317/2416|11/1239|4/412||,C|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|2/3|c.11T>C|p.Met4Thr|450/2549|11/1239|4/412||,C|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|3/4|c.11T>C|p.Met4Thr|641/2740|11/1239|4/412||,C|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|2/3|c.11T>C|p.Met4Thr|535/2634|11/1239|4/412||,C|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.575-981A>G||||||,C|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|1/1|n.185+5669T>C||||||,C|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|1/1|n.165+5689T>C||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|19/20|n.4190T>C|||||| 22 24829453 . G A . . ANN=A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|2/3|c.81G>A|p.Val27Val|540/2569|81/1239|27/412||,A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|2/3|c.81G>A|p.Val27Val|387/2416|81/1239|27/412||,A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|2/3|c.81G>A|p.Val27Val|520/2549|81/1239|27/412||,A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|3/4|c.81G>A|p.Val27Val|711/2740|81/1239|27/412||,A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|2/3|c.81G>A|p.Val27Val|605/2634|81/1239|27/412||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.575-1051C>T||||||,A|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|1/1|n.185+5739G>A||||||,A|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|1/1|n.165+5759G>A||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|19/20|n.4260G>A|||||| 22 24829521 . C T . . ANN=T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|2/3|c.149C>T|p.Ala50Val|608/2569|149/1239|50/412||,T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|2/3|c.149C>T|p.Ala50Val|455/2416|149/1239|50/412||,T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|2/3|c.149C>T|p.Ala50Val|588/2549|149/1239|50/412||,T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|3/4|c.149C>T|p.Ala50Val|779/2740|149/1239|50/412||,T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|2/3|c.149C>T|p.Ala50Val|673/2634|149/1239|50/412||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.575-1119G>A||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|1/1|n.185+5807C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|1/1|n.165+5827C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|19/20|n.4328C>T|||||| 22 24829597 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|2/3|c.225C>T|p.His75His|684/2569|225/1239|75/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|2/3|c.225C>T|p.His75His|531/2416|225/1239|75/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|2/3|c.225C>T|p.His75His|664/2549|225/1239|75/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|3/4|c.225C>T|p.His75His|855/2740|225/1239|75/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|2/3|c.225C>T|p.His75His|749/2634|225/1239|75/412||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.575-1195G>A||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|1/1|n.185+5883C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|1/1|n.165+5903C>T||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|19/20|n.4404C>T|||||| 22 24836510 . C T . . ANN=T|intron_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|19/19|n.4512-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|2/2|c.333-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+1450G>A||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|2/2|c.333-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|2/2|c.333-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|1/1|n.186-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|1/1|n.166-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|3/3|c.333-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|2/2|c.333-41C>T||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1012-975G>A|||||| 22 24836650 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.432C>T|p.Asn144Asn|891/2569|432/1239|144/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.432C>T|p.Asn144Asn|738/2416|432/1239|144/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.432C>T|p.Asn144Asn|871/2549|432/1239|144/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.432C>T|p.Asn144Asn|1062/2740|432/1239|144/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.432C>T|p.Asn144Asn|956/2634|432/1239|144/412||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+1310G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1012-1115G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.4611C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.285C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.265C>T|||||| 22 24836657 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.439G>A|p.Gly147Ser|898/2569|439/1239|147/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.439G>A|p.Gly147Ser|745/2416|439/1239|147/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.439G>A|p.Gly147Ser|878/2549|439/1239|147/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.439G>A|p.Gly147Ser|1069/2740|439/1239|147/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.439G>A|p.Gly147Ser|963/2634|439/1239|147/412||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+1303C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1012-1122C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.4618G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.292G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.272G>A|||||| 22 24836665 . A G . . ANN=G|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.447A>G|p.Pro149Pro|906/2569|447/1239|149/412||,G|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.447A>G|p.Pro149Pro|753/2416|447/1239|149/412||,G|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.447A>G|p.Pro149Pro|886/2549|447/1239|149/412||,G|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.447A>G|p.Pro149Pro|1077/2740|447/1239|149/412||,G|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.447A>G|p.Pro149Pro|971/2634|447/1239|149/412||,G|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+1295T>C||||||,G|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1012-1130T>C||||||,G|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.4626A>G||||||,G|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.300A>G||||||,G|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.280A>G|||||| 22 24836929 . C A . . ANN=A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.711C>A|p.Ile237Ile|1170/2569|711/1239|237/412||,A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.711C>A|p.Ile237Ile|1017/2416|711/1239|237/412||,A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.711C>A|p.Ile237Ile|1150/2549|711/1239|237/412||,A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.711C>A|p.Ile237Ile|1341/2740|711/1239|237/412||,A|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.711C>A|p.Ile237Ile|1235/2634|711/1239|237/412||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+1031G>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+1031G>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.4890C>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.564C>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.544C>A|||||| 22 24836998 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.780C>T|p.Pro260Pro|1239/2569|780/1239|260/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.780C>T|p.Pro260Pro|1086/2416|780/1239|260/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.780C>T|p.Pro260Pro|1219/2549|780/1239|260/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.780C>T|p.Pro260Pro|1410/2740|780/1239|260/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.780C>T|p.Pro260Pro|1304/2634|780/1239|260/412||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+962G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+962G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.4959C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.633C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.613C>T|||||| 22 24837041 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.823G>A|p.Val275Ile|1282/2569|823/1239|275/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.823G>A|p.Val275Ile|1129/2416|823/1239|275/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.823G>A|p.Val275Ile|1262/2549|823/1239|275/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.823G>A|p.Val275Ile|1453/2740|823/1239|275/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.823G>A|p.Val275Ile|1347/2634|823/1239|275/412||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+919C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+919C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5002G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.676G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.656G>A|||||| 22 24837103 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.885C>T|p.Phe295Phe|1344/2569|885/1239|295/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.885C>T|p.Phe295Phe|1191/2416|885/1239|295/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.885C>T|p.Phe295Phe|1324/2549|885/1239|295/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.885C>T|p.Phe295Phe|1515/2740|885/1239|295/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.885C>T|p.Phe295Phe|1409/2634|885/1239|295/412||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+857G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+857G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5064C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.738C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.718C>T|||||| 22 24837117 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.899G>A|p.Arg300His|1358/2569|899/1239|300/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.899G>A|p.Arg300His|1205/2416|899/1239|300/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.899G>A|p.Arg300His|1338/2549|899/1239|300/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.899G>A|p.Arg300His|1529/2740|899/1239|300/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.899G>A|p.Arg300His|1423/2634|899/1239|300/412||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+843C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+843C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5078G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.752G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.732G>A|||||| 22 24837137 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.919G>A|p.Val307Ile|1378/2569|919/1239|307/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.919G>A|p.Val307Ile|1225/2416|919/1239|307/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.919G>A|p.Val307Ile|1358/2549|919/1239|307/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.919G>A|p.Val307Ile|1549/2740|919/1239|307/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.919G>A|p.Val307Ile|1443/2634|919/1239|307/412||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+823C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+823C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5098G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.772G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.752G>A|||||| 22 24837236 . G A . . ANN=A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.1018G>A|p.Gly340Ser|1477/2569|1018/1239|340/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.1018G>A|p.Gly340Ser|1324/2416|1018/1239|340/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.1018G>A|p.Gly340Ser|1457/2549|1018/1239|340/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.1018G>A|p.Gly340Ser|1648/2740|1018/1239|340/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.1018G>A|p.Gly340Ser|1542/2634|1018/1239|340/412||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+724C>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+724C>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5197G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.871G>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.851G>A|||||| 22 24837243 . C T . . ANN=T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.1025C>T|p.Pro342Leu|1484/2569|1025/1239|342/412||,T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.1025C>T|p.Pro342Leu|1331/2416|1025/1239|342/412||,T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.1025C>T|p.Pro342Leu|1464/2549|1025/1239|342/412||,T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.1025C>T|p.Pro342Leu|1655/2740|1025/1239|342/412||,T|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.1025C>T|p.Pro342Leu|1549/2634|1025/1239|342/412||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+717G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+717G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5204C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.878C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.858C>T|||||| 22 24837262 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.1044C>T|p.Asn348Asn|1503/2569|1044/1239|348/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.1044C>T|p.Asn348Asn|1350/2416|1044/1239|348/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.1044C>T|p.Asn348Asn|1483/2549|1044/1239|348/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.1044C>T|p.Asn348Asn|1674/2740|1044/1239|348/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.1044C>T|p.Asn348Asn|1568/2634|1044/1239|348/412||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+698G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+698G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5223C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.897C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.877C>T|||||| 22 24837301 . T C . . ANN=C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.1083T>C|p.Tyr361Tyr|1542/2569|1083/1239|361/412||,C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.1083T>C|p.Tyr361Tyr|1389/2416|1083/1239|361/412||,C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.1083T>C|p.Tyr361Tyr|1522/2549|1083/1239|361/412||,C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.1083T>C|p.Tyr361Tyr|1713/2740|1083/1239|361/412||,C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.1083T>C|p.Tyr361Tyr|1607/2634|1083/1239|361/412||,C|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+659A>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+659A>G||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5262T>C||||||,C|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.936T>C||||||,C|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.916T>C|||||| 22 24837325 . G C . . ANN=C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.1107G>C|p.Gly369Gly|1566/2569|1107/1239|369/412||,C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.1107G>C|p.Gly369Gly|1413/2416|1107/1239|369/412||,C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.1107G>C|p.Gly369Gly|1546/2549|1107/1239|369/412||,C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.1107G>C|p.Gly369Gly|1737/2740|1107/1239|369/412||,C|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.1107G>C|p.Gly369Gly|1631/2634|1107/1239|369/412||,C|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+635C>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+635C>G||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5286G>C||||||,C|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.960G>C||||||,C|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.940G>C|||||| 22 24837364 . C T . . ANN=T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.1146C>T|p.Asp382Asp|1605/2569|1146/1239|382/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.1146C>T|p.Asp382Asp|1452/2416|1146/1239|382/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.1146C>T|p.Asp382Asp|1585/2549|1146/1239|382/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.1146C>T|p.Asp382Asp|1776/2740|1146/1239|382/412||,T|synonymous_variant|LOW|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.1146C>T|p.Asp382Asp|1670/2634|1146/1239|382/412||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+596G>A||||||,T|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+596G>A||||||,T|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5325C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.999C>T||||||,T|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.979C>T|||||| 22 24837424 . C A . . ANN=A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.1206C>A|p.Asp402Glu|1665/2569|1206/1239|402/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.1206C>A|p.Asp402Glu|1512/2416|1206/1239|402/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.1206C>A|p.Asp402Glu|1645/2549|1206/1239|402/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.1206C>A|p.Asp402Glu|1836/2740|1206/1239|402/412||,A|missense_variant|MODERATE|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.1206C>A|p.Asp402Glu|1730/2634|1206/1239|402/412||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+536G>T||||||,A|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+536G>T||||||,A|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5385C>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.1059C>A||||||,A|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.1039C>A|||||| 22 24837499 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_000675.5|Coding|3/3|c.*42T>C|||||42|,C|3_prime_UTR_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_001278500.1|Coding|3/3|c.*42T>C|||||42|,C|3_prime_UTR_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_001278499.1|Coding|3/3|c.*42T>C|||||42|,C|3_prime_UTR_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_001278497.1|Coding|4/4|c.*42T>C|||||42|,C|3_prime_UTR_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NM_001278498.1|Coding|3/3|c.*42T>C|||||42|,C|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028484.1|Noncoding|4/6|n.574+461A>G||||||,C|intron_variant|MODIFIER|ADORA2A-AS1|ADORA2A-AS1|transcript|NR_028483.1|Noncoding|6/7|n.1011+461A>G||||||,C|non_coding_exon_variant|MODIFIER|SPECC1L-ADORA2A|SPECC1L-ADORA2A|transcript|NR_103546.1|Noncoding|20/20|n.5460T>C||||||,C|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103543.1|Noncoding|2/2|n.1134T>C||||||,C|non_coding_exon_variant|MODIFIER|ADORA2A|ADORA2A|transcript|NR_103544.1|Noncoding|2/2|n.1114T>C|||||| 22 24891355 . A T . . ANN=T|5_prime_UTR_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|1/10|c.-17A>T|||||17| 22 24891370 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|1/10|c.-2C>T|||||2| 22 24891380 . C T . . ANN=T|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|1/10|c.9C>T|p.Gly3Gly|130/2067|9/1155|3/384|| 22 24891453 . G A . . ANN=A|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|1/10|c.82G>A|p.Val28Ile|203/2067|82/1155|28/384|| 22 24891462 . G A . . ANN=A|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|1/10|c.91G>A|p.Gly31Ser|212/2067|91/1155|31/384|| 22 24896044 . T C . . ANN=C|intron_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|1/9|c.105-31T>C|||||| 22 24896068 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|1/9|c.105-7C>G|||||| 22 24896069 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|1/9|c.105-6A>G|||||| 22 24896158 . A T . . ANN=T|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|2/10|c.188A>T|p.Glu63Val|309/2067|188/1155|63/384|| 22 24896179 . G C . . ANN=C|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|2/10|c.209G>C|p.Arg70Pro|330/2067|209/1155|70/384|| 22 24896224 . C A . . ANN=A|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|2/10|c.254C>A|p.Ala85Glu|375/2067|254/1155|85/384|| 22 24898056 . T A . . ANN=A|intron_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|2/9|c.277-38T>A|||||| 22 24898063 . A C . . ANN=C|intron_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|2/9|c.277-31A>C|||||| 22 24898092 . A G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|UPB1|UPB1|transcript|NM_016327.2|Coding|2/9|c.277-2A>G||||||;LOF=(UPB1|UPB1|1|1.00) 22 24898175 . G T . . ANN=T|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|3/10|c.358G>T|p.Ala120Ser|479/2067|358/1155|120/384|| 22 24906668 . CAG C . . ANN=C|intron_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|3/9|c.365-48_365-47delAG|||||| 22 24906689 . A G . . ANN=G|intron_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|3/9|c.365-28A>G|||||| 22 24906723 . C A . . ANN=A|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|4/10|c.371C>A|p.Pro124His|492/2067|371/1155|124/384|| 22 24909316 . G GT . . ANN=T|frameshift_variant|HIGH|UPB1|UPB1|transcript|NM_016327.2|Coding|5/10|c.485dupT|p.Val163fs|607/2067|486/1155|162/384||INFO_REALIGN_3_PRIME;LOF=(UPB1|UPB1|1|1.00) 22 24909346 . G A . . ANN=A|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|5/10|c.514G>A|p.Glu172Lys|635/2067|514/1155|172/384|| 22 24909465 . A G . . ANN=G|intron_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|5/9|c.621+12A>G|||||| 22 24911233 . C A . . ANN=A|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|6/10|c.686C>A|p.Ala229Glu|807/2067|686/1155|229/384|| 22 24911249 . C T . . ANN=T|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|6/10|c.702C>T|p.Tyr234Tyr|823/2067|702/1155|234/384|| 22 24911253 . C T . . ANN=T|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|6/10|c.706C>T|p.Arg236Trp|827/2067|706/1155|236/384|| 22 24911294 . GGC G . . ANN=G|frameshift_variant|HIGH|UPB1|UPB1|transcript|NM_016327.2|Coding|6/10|c.748_749delGC|p.Ala250fs|869/2067|748/1155|250/384||;LOF=(UPB1|UPB1|1|1.00) 22 24911318 . G A . . ANN=A|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|6/10|c.771G>A|p.Ser257Ser|892/2067|771/1155|257/384|| 22 24916355 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|7/10|c.792C>A|p.Ser264Arg|913/2067|792/1155|264/384|| 22 24916373 . C T . . ANN=T|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|7/10|c.810C>T|p.Ile270Ile|931/2067|810/1155|270/384|| 22 24916385 . C T . . ANN=T|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|7/10|c.822C>T|p.Asn274Asn|943/2067|822/1155|274/384|| 22 24916409 . C T . . ANN=T|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|7/10|c.846C>T|p.Phe282Phe|967/2067|846/1155|282/384|| 22 24916420 . T C . . ANN=C|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|7/10|c.857T>C|p.Ile286Thr|978/2067|857/1155|286/384|| 22 24916426 . G A . . ANN=A|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|7/10|c.863G>A|p.Arg288Gln|984/2067|863/1155|288/384|| 22 24916438 . T A . . ANN=A|splice_donor_variant&intron_variant|HIGH|UPB1|UPB1|transcript|NM_016327.2|Coding|7/9|c.873+2T>A||||||;LOF=(UPB1|UPB1|1|1.00) 22 24916445 . C T . . ANN=T|intron_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|7/9|c.873+9C>T|||||| 22 24917944 . T TA . . ANN=TA|intron_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|7/9|c.874-10_874-9insA|||||| 22 24917983 . A G . . ANN=G|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|8/10|c.903A>G|p.Gly301Gly|1024/2067|903/1155|301/384|| 22 24919586 . G A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|UPB1|UPB1|transcript|NM_016327.2|Coding|8/9|c.917-1G>A||||||;LOF=(UPB1|UPB1|1|1.00) 22 24919590 . A G . . ANN=G|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|9/10|c.920A>G|p.His307Arg|1041/2067|920/1155|307/384|| 22 24919611 . A G . . ANN=G|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|9/10|c.941A>G|p.Tyr314Cys|1062/2067|941/1155|314/384|| 22 24919627 . G A . . ANN=A|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|9/10|c.957G>A|p.Val319Val|1078/2067|957/1155|319/384|| 22 24919646 . C A . . ANN=A|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|9/10|c.976C>A|p.Arg326Arg|1097/2067|976/1155|326/384|| 22 24919647 . G A . . ANN=A|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|9/10|c.977G>A|p.Arg326Gln|1098/2067|977/1155|326/384|| 22 24919675 . T G . . ANN=G|missense_variant|MODERATE|UPB1|UPB1|transcript|NM_016327.2|Coding|9/10|c.1005T>G|p.Asp335Glu|1126/2067|1005/1155|335/384|| 22 24921693 . T C . . ANN=C|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|10/10|c.1086T>C|p.Tyr362Tyr|1207/2067|1086/1155|362/384|| 22 24921714 . C T . . ANN=T|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|10/10|c.1107C>T|p.Leu369Leu|1228/2067|1107/1155|369/384|| 22 24921729 . G A . . ANN=A|synonymous_variant|LOW|UPB1|UPB1|transcript|NM_016327.2|Coding|10/10|c.1122G>A|p.Lys374Lys|1243/2067|1122/1155|374/384|| 22 24921764 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|10/10|c.*2C>A|||||2| 22 24921765 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|10/10|c.*3G>A|||||3| 22 24921785 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|UPB1|UPB1|transcript|NM_016327.2|Coding|10/10|c.*23G>A|||||23| 22 24939115 . A G . . ANN=G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|5/5|c.797-47T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|5/5|c.629-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|5/5|c.500-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-47T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_031444.3|Coding|5/5|c.629-47T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|5/5|c.797-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|5/5|c.668-50T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-47T>C|||||| 22 24939814 . G T . . ANN=T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|5/6|c.792C>A|p.Ala264Ala|902/3584|792/891|264/296||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|5/6|c.624C>A|p.Ala208Ala|940/3619|624/720|208/239||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|5/6|c.495C>A|p.Ala165Ala|811/3490|495/591|165/196||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_031444.3|Coding|5/6|c.624C>A|p.Ala208Ala|940/3622|624/723|208/240||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|5/6|c.792C>A|p.Ala264Ala|902/3581|792/888|264/295||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|5/6|c.663C>A|p.Ala221Ala|773/3452|663/759|221/252||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-746C>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-749C>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-746C>A|||||| 22 24939868 . C T . . ANN=T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|5/6|c.738G>A|p.Leu246Leu|848/3584|738/891|246/296||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|5/6|c.570G>A|p.Leu190Leu|886/3619|570/720|190/239||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|5/6|c.441G>A|p.Leu147Leu|757/3490|441/591|147/196||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_031444.3|Coding|5/6|c.570G>A|p.Leu190Leu|886/3622|570/723|190/240||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|5/6|c.738G>A|p.Leu246Leu|848/3581|738/888|246/295||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|5/6|c.609G>A|p.Leu203Leu|719/3452|609/759|203/252||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-800G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-803G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-800G>A|||||| 22 24939873 . C T . . ANN=T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|5/6|c.733G>A|p.Val245Met|843/3584|733/891|245/296||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|5/6|c.565G>A|p.Val189Met|881/3619|565/720|189/239||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|5/6|c.436G>A|p.Val146Met|752/3490|436/591|146/196||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_031444.3|Coding|5/6|c.565G>A|p.Val189Met|881/3622|565/723|189/240||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|5/6|c.733G>A|p.Val245Met|843/3581|733/888|245/295||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|5/6|c.604G>A|p.Val202Met|714/3452|604/759|202/252||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-805G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-808G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-805G>A|||||| 22 24939919 . G A . . ANN=A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|5/6|c.687C>T|p.Gly229Gly|797/3584|687/891|229/296||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|5/6|c.519C>T|p.Gly173Gly|835/3619|519/720|173/239||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|5/6|c.390C>T|p.Gly130Gly|706/3490|390/591|130/196||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_031444.3|Coding|5/6|c.519C>T|p.Gly173Gly|835/3622|519/723|173/240||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|5/6|c.687C>T|p.Gly229Gly|797/3581|687/888|229/295||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|5/6|c.558C>T|p.Gly186Gly|668/3452|558/759|186/252||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-851C>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-854C>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-851C>T|||||| 22 24939922 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|5/6|c.387T>C|p.Cys129Cys|703/3490|387/591|129/196||,G|splice_region_variant&synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|5/6|c.555T>C|p.Cys185Cys|665/3452|555/759|185/252||,G|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|5/6|c.684T>C|p.Ser228Ser|794/3584|684/891|228/296||,G|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|5/6|c.516T>C|p.Ser172Ser|832/3619|516/720|172/239||,G|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_031444.3|Coding|5/6|c.516T>C|p.Ser172Ser|832/3622|516/723|172/240||,G|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|5/6|c.684T>C|p.Ser228Ser|794/3581|684/888|228/295||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-854T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-857T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-854T>C|||||| 22 24939978 . C A . . ANN=A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|5/6|c.628G>T|p.Val210Leu|738/3584|628/891|210/296||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|5/6|c.460G>T|p.Val154Leu|776/3619|460/720|154/239||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_031444.3|Coding|5/6|c.460G>T|p.Val154Leu|776/3622|460/723|154/240||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|5/6|c.628G>T|p.Val210Leu|738/3581|628/888|210/295||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|4/5|c.387-56G>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-910G>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-913G>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|4/5|c.555-56G>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-910G>T|||||| 22 24939982 . C T . . ANN=T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|5/6|c.624G>A|p.Ser208Ser|734/3584|624/891|208/296||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|5/6|c.456G>A|p.Ser152Ser|772/3619|456/720|152/239||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_031444.3|Coding|5/6|c.456G>A|p.Ser152Ser|772/3622|456/723|152/240||,T|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|5/6|c.624G>A|p.Ser208Ser|734/3581|624/888|208/295||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|4/5|c.387-60G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-914G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-917G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|4/5|c.555-60G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-914G>A|||||| 22 24940063 . A AG . . ANN=AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|4/5|c.555-13_555-12insC||||||,AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|4/5|c.387-13_387-12insC||||||,AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|4/5|c.387-142_387-141insC||||||,AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-996_387-995insC||||||,AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-999_387-998insC||||||,AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_031444.3|Coding|4/5|c.387-13_387-12insC||||||,AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|4/5|c.555-13_555-12insC||||||,AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|4/5|c.555-142_555-141insC||||||,AG|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-996_580-995insC|||||| 22 24940093 . A G . . ANN=G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|4/5|c.555-42T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|4/5|c.387-42T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|4/5|c.387-171T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.387-1025T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.387-1028T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_031444.3|Coding|4/5|c.387-42T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|4/5|c.555-42T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|4/5|c.555-171T>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.580-1025T>C|||||| 22 24942835 . T G . . ANN=G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|4/5|c.554+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|4/5|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|4/5|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_031444.3|Coding|4/5|c.386+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|4/5|c.554+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|4/5|c.554+47A>C||||||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.579+47A>C|||||| 22 24942853 . A T . . ANN=T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|4/5|c.554+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|4/5|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|4/5|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/4|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/4|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_031444.3|Coding|4/5|c.386+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|4/5|c.554+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|4/5|c.554+29T>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/3|n.579+29T>A|||||| 22 24942937 . G A . . ANN=A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|4/6|c.499C>T|p.Arg167Trp|609/3584|499/891|167/296||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|4/6|c.331C>T|p.Arg111Trp|647/3619|331/720|111/239||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|4/6|c.331C>T|p.Arg111Trp|647/3490|331/591|111/196||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|4/5|c.331C>T|p.Arg111Trp|647/3380|331/414|111/137||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|4/5|c.331C>T|p.Arg111Trp|647/3377|331/411|111/136||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_031444.3|Coding|4/6|c.331C>T|p.Arg111Trp|647/3622|331/723|111/240||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|4/6|c.499C>T|p.Arg167Trp|609/3581|499/888|167/295||,A|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|4/6|c.499C>T|p.Arg167Trp|609/3452|499/759|167/252||,A|non_coding_exon_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|3/4|n.524C>T|||||| 22 24943848 . T C . . ANN=C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|3/5|c.462+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|3/5|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|3/5|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|3/4|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|3/4|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_031444.3|Coding|3/5|c.294+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|3/5|c.462+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|3/5|c.462+28A>G||||||,C|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|2/3|n.487+28A>G|||||| 22 24943869 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|3/5|c.462+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|3/5|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|3/5|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|3/4|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|3/4|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NM_031444.3|Coding|3/5|c.294+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|3/5|c.462+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|3/5|c.462+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|2/3|n.487+7G>A|||||| 22 24943979 . C T . . ANN=T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|3/6|c.359G>A|p.Arg120Lys|469/3584|359/891|120/296||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|3/6|c.191G>A|p.Arg64Lys|507/3619|191/720|64/239||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|3/6|c.191G>A|p.Arg64Lys|507/3490|191/591|64/196||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|3/5|c.191G>A|p.Arg64Lys|507/3380|191/414|64/137||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|3/5|c.191G>A|p.Arg64Lys|507/3377|191/411|64/136||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_031444.3|Coding|3/6|c.191G>A|p.Arg64Lys|507/3622|191/723|64/240||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|3/6|c.359G>A|p.Arg120Lys|469/3581|359/888|120/295||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|3/6|c.359G>A|p.Arg120Lys|469/3452|359/759|120/252||,T|non_coding_exon_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|2/4|n.384G>A|||||| 22 24943981 . G C . . ANN=C|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|3/6|c.357C>G|p.Thr119Thr|467/3584|357/891|119/296||,C|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|3/6|c.189C>G|p.Thr63Thr|505/3619|189/720|63/239||,C|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|3/6|c.189C>G|p.Thr63Thr|505/3490|189/591|63/196||,C|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|3/5|c.189C>G|p.Thr63Thr|505/3380|189/414|63/137||,C|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|3/5|c.189C>G|p.Thr63Thr|505/3377|189/411|63/136||,C|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_031444.3|Coding|3/6|c.189C>G|p.Thr63Thr|505/3622|189/723|63/240||,C|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|3/6|c.357C>G|p.Thr119Thr|467/3581|357/888|119/295||,C|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|3/6|c.357C>G|p.Thr119Thr|467/3452|357/759|119/252||,C|non_coding_exon_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|2/4|n.382C>G|||||| 22 24944053 . C T . . ANN=T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|2/5|c.297-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|2/5|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|2/5|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|2/4|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|2/4|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_031444.3|Coding|2/5|c.129-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|2/5|c.297-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|2/5|c.297-12G>A||||||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|1/3|n.322-12G>A|||||| 22 24944927 . T G . . ANN=G|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|2/6|c.254A>C|p.Tyr85Ser|364/3584|254/891|85/296||,G|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|2/6|c.86A>C|p.Tyr29Ser|402/3619|86/720|29/239||,G|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|2/6|c.86A>C|p.Tyr29Ser|402/3490|86/591|29/196||,G|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|2/5|c.86A>C|p.Tyr29Ser|402/3380|86/414|29/137||,G|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|2/5|c.86A>C|p.Tyr29Ser|402/3377|86/411|29/136||,G|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_031444.3|Coding|2/6|c.86A>C|p.Tyr29Ser|402/3622|86/723|29/240||,G|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|2/6|c.254A>C|p.Tyr85Ser|364/3581|254/888|85/295||,G|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|2/6|c.254A>C|p.Tyr85Ser|364/3452|254/759|85/252||,G|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|1/3|n.322-886A>C|||||| 22 24944943 . C T . . ANN=T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|2/6|c.238G>A|p.Val80Ile|348/3584|238/891|80/296||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|2/6|c.70G>A|p.Val24Ile|386/3619|70/720|24/239||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|2/6|c.70G>A|p.Val24Ile|386/3490|70/591|24/196||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|2/5|c.70G>A|p.Val24Ile|386/3380|70/414|24/137||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|2/5|c.70G>A|p.Val24Ile|386/3377|70/411|24/136||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_031444.3|Coding|2/6|c.70G>A|p.Val24Ile|386/3622|70/723|24/240||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|2/6|c.238G>A|p.Val80Ile|348/3581|238/888|80/295||,T|missense_variant|MODERATE|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|2/6|c.238G>A|p.Val80Ile|348/3452|238/759|80/252||,T|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|1/3|n.322-902G>A|||||| 22 24950924 . G A . . ANN=A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284254.1|Coding|1/6|c.36C>T|p.Leu12Leu|352/3619|36/720|12/239||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284255.1|Coding|1/6|c.36C>T|p.Leu12Leu|352/3490|36/591|12/196||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284256.1|Coding|1/5|c.36C>T|p.Leu12Leu|352/3380|36/414|12/137||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_001284257.1|Coding|1/5|c.36C>T|p.Leu12Leu|352/3377|36/411|12/136||,A|synonymous_variant|LOW|GUCD1|GUCD1|transcript|NM_031444.3|Coding|1/6|c.36C>T|p.Leu12Leu|352/3622|36/723|12/240||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284251.1|Coding|1/5|c.211+659C>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284252.1|Coding|1/5|c.211+659C>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NM_001284253.1|Coding|1/5|c.211+659C>T||||||,A|intron_variant|MODIFIER|GUCD1|GUCD1|transcript|NR_104286.1|Noncoding|1/3|n.321+659C>T|||||| 22 24953595 . A G . . ANN=G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|1/3|c.-18-30A>G||||||,G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|1/3|c.-18-30A>G||||||,G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|1/2|n.423-30A>G|||||| 22 24953606 . G A . . ANN=A|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|1/3|c.-18-19G>A||||||,A|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|1/3|c.-18-19G>A||||||,A|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|1/2|n.423-19G>A|||||| 22 24953611 . C G . . ANN=G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|1/3|c.-18-14C>G||||||,G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|1/3|c.-18-14C>G||||||,G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|1/2|n.423-14C>G|||||| 22 24953708 . G A . . ANN=A|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|2/4|c.66G>A|p.Thr22Thr|492/3794|66/381|22/126||,A|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|2/4|c.66G>A|p.Thr22Thr|506/3808|66/381|22/126||,A|non_coding_exon_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|2/3|n.506G>A|||||| 22 24953714 . C T . . ANN=T|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|2/4|c.72C>T|p.Thr24Thr|498/3794|72/381|24/126||,T|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|2/4|c.72C>T|p.Thr24Thr|512/3808|72/381|24/126||,T|non_coding_exon_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|2/3|n.512C>T|||||| 22 24963975 . C T . . ANN=T|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|3/4|c.150C>T|p.Tyr50Tyr|576/3794|150/381|50/126||,T|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|3/4|c.150C>T|p.Tyr50Tyr|590/3808|150/381|50/126||,T|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|2/2|n.567-3909C>T|||||| 22 24964128 . T C . . ANN=C|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|3/4|c.303T>C|p.Ala101Ala|729/3794|303/381|101/126||,C|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|3/4|c.303T>C|p.Ala101Ala|743/3808|303/381|101/126||,C|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|2/2|n.567-3756T>C|||||| 22 24964151 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|3/3|c.319+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|3/3|c.319+7G>T||||||,T|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|2/2|n.567-3733G>T|||||| 22 24967838 . T G . . ANN=G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|3/3|c.320-46T>G||||||,G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|3/3|c.320-46T>G||||||,G|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|2/2|n.567-46T>G|||||| 22 24967842 . C T . . ANN=T|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|3/3|c.320-42C>T||||||,T|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|3/3|c.320-42C>T||||||,T|intron_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|2/2|n.567-42C>T|||||| 22 24967888 . C T . . ANN=T|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|4/4|c.324C>T|p.Ala108Ala|750/3794|324/381|108/126||,T|synonymous_variant|LOW|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|4/4|c.324C>T|p.Ala108Ala|764/3808|324/381|108/126||,T|non_coding_exon_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|3/3|n.571C>T|||||| 22 24967962 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_001278656.1|Coding|4/4|c.*17G>A|||||17|,A|3_prime_UTR_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NM_004175.4|Coding|4/4|c.*17G>A|||||17|,A|non_coding_exon_variant|MODIFIER|SNRPD3|SNRPD3|transcript|NR_103819.1|Noncoding|3/3|n.645G>A|||||| 22 24981880 . C T . . ANN=T|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.922G>A|p.Glu308Lys|951/1240|922/948|308/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2104C>T|||||| 22 24981881 . G A . . ANN=A|synonymous_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.921C>T|p.Pro307Pro|950/1240|921/948|307/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2105G>A|||||| 22 24981938 . C T . . ANN=T|synonymous_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.864G>A|p.Ala288Ala|893/1240|864/948|288/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2162C>T|||||| 22 24981958 . G T . . ANN=T|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.844C>A|p.Leu282Ile|873/1240|844/948|282/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2182G>T|||||| 22 24981983 . G A . . ANN=A|synonymous_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.819C>T|p.Leu273Leu|848/1240|819/948|273/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2207G>A|||||| 22 24981993 . C T . . ANN=T|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.809G>A|p.Arg270His|838/1240|809/948|270/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2217C>T|||||| 22 24982011 . C T . . ANN=T|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.791G>A|p.Arg264His|820/1240|791/948|264/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2235C>T|||||| 22 24982103 . C G . . ANN=G|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.699G>C|p.Lys233Asn|728/1240|699/948|233/315||,G|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2327C>G|||||| 22 24982126 . G A . . ANN=A|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.676C>T|p.Arg226Cys|705/1240|676/948|226/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2350G>A|||||| 22 24982137 . C T . . ANN=T|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.665G>A|p.Arg222Gln|694/1240|665/948|222/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2361C>T|||||| 22 24982154 . G A . . ANN=A|synonymous_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.648C>T|p.Asn216Asn|677/1240|648/948|216/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2378G>A|||||| 22 24982181 . C T . . ANN=T|synonymous_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.621G>A|p.Leu207Leu|650/1240|621/948|207/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2405C>T|||||| 22 24982233 . G A . . ANN=A|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.569C>T|p.Thr190Met|598/1240|569/948|190/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2457G>A|||||| 22 24982253 . C T . . ANN=T|synonymous_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.549G>A|p.Ala183Ala|578/1240|549/948|183/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2477C>T|||||| 22 24982254 . G A . . ANN=A|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.548C>T|p.Ala183Val|577/1240|548/948|183/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2478G>A|||||| 22 24982301 . G T . . ANN=T|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.501C>A|p.Asp167Glu|530/1240|501/948|167/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2525G>T|||||| 22 24982335 . A G . . ANN=G|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|4/4|c.467T>C|p.Val156Ala|496/1240|467/948|156/315||,G|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+2559A>G|||||| 22 24984143 . A G . . ANN=G|intron_variant|MODIFIER|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/3|c.422+39T>C||||||,G|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4367A>G|||||| 22 24984186 . T G . . ANN=G|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/4|c.418A>C|p.Ser140Arg|447/1240|418/948|140/315||,G|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4410T>G|||||| 22 24984189 . G T . . ANN=T|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/4|c.415C>A|p.Gln139Lys|444/1240|415/948|139/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4413G>T|||||| 22 24984204 . G A . . ANN=A|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/4|c.400C>T|p.Arg134Cys|429/1240|400/948|134/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4428G>A|||||| 22 24984215 . C G . . ANN=G|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/4|c.389G>C|p.Gly130Ala|418/1240|389/948|130/315||,G|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4439C>G|||||| 22 24984260 . C A . . ANN=A|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/4|c.344G>T|p.Arg115Leu|373/1240|344/948|115/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4484C>A|||||| 22 24984261 . G A . . ANN=A|stop_gained|HIGH|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/4|c.343C>T|p.Arg115*|372/1240|343/948|115/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4485G>A||||||;LOF=(LRRC75B|LRRC75B|1|1.00);NMD=(LRRC75B|LRRC75B|1|1.00) 22 24984270 . T C . . ANN=C|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/4|c.334A>G|p.Lys112Glu|363/1240|334/948|112/315||,C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4494T>C|||||| 22 24984275 . G A . . ANN=A|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|3/4|c.329C>T|p.Ser110Leu|358/1240|329/948|110/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4499G>A|||||| 22 24984304 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|2/3|c.307-7C>T||||||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+4528G>A|||||| 22 24985742 . C A . . ANN=A|intron_variant|MODIFIER|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|2/3|c.306+47G>T||||||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+5966C>A|||||| 22 24985840 . G T . . ANN=T|synonymous_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|2/4|c.255C>A|p.Ile85Ile|284/1240|255/948|85/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+6064G>T|||||| 22 24985853 . G A . . ANN=A|missense_variant|MODERATE|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|2/4|c.242C>T|p.Pro81Leu|271/1240|242/948|81/315||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+6077G>A|||||| 22 24988805 . A C . . ANN=C|intron_variant|MODIFIER|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|1/3|c.177+25T>G||||||,C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+9029A>C|||||| 22 24988920 . C T . . ANN=T|synonymous_variant|LOW|LRRC75B|LRRC75B|transcript|NM_207644.2|Coding|1/4|c.87G>A|p.Glu29Glu|116/1240|87/948|29/315||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|1/15|c.-429+9144C>T|||||| 22 25010885 . G A . . ANN=A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|6/15|c.295+12G>A||||||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|6/15|c.295+12G>A||||||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|7/16|c.295+12G>A|||||| 22 25010967 . G C . . ANN=C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|6/15|c.296-41G>C||||||,C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|6/15|c.296-41G>C||||||,C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|7/16|c.296-41G>C|||||| 22 25010979 . C T . . ANN=T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|6/15|c.296-29C>T||||||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|6/15|c.296-29C>T||||||,T|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|7/16|c.296-29C>T|||||| 22 25019903 . CCACTGTGGGTGTGGGG C . . ANN=C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|11/15|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|11/15|c.1020+21_1020+36delCACTGTGGGTGTGGGG||||||,C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|12/16|c.1020+21_1020+36delCACTGTGGGTGTGGGG|||||| 22 25019904 . CACTGTGGGTGTGGGG C . . ANN=C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|11/15|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|11/15|c.1020+22_1020+36delACTGTGGGTGTGGGG||||||,C|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|12/16|c.1020+22_1020+36delACTGTGGGTGTGGGG|||||| 22 25019919 . G GC,GCC,GGC . . ANN=GC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|11/15|c.1020+36_1020+37insC||||||,GCC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|11/15|c.1020+36_1020+37insCC||||||,GGC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|11/15|c.1020+36_1020+37insGC||||||,GC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|11/15|c.1020+36_1020+37insC||||||,GCC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|11/15|c.1020+36_1020+37insCC||||||,GGC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|11/15|c.1020+36_1020+37insGC||||||,GC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|12/16|c.1020+36_1020+37insC||||||,GCC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|12/16|c.1020+36_1020+37insCC||||||,GGC|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|12/16|c.1020+36_1020+37insGC|||||| 22 25023367 . ACCT A . . ANN=A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|11/15|c.1021-31_1021-29delCCT||||||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|11/15|c.1021-31_1021-29delCCT||||||,A|intron_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|12/16|c.1021-31_1021-29delCCT|||||| 22 25024850 . TACTC T . . ANN=|3_prime_UTR_variant|MODIFIER|GGT1|GGT1|transcript|NM_001288833.1|Coding|16/16|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|GGT1|transcript|NM_013430.2|Coding|16/16|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|GGT1|GGT1|transcript|NM_013421.2|Coding|17/17|c.*47_*50delTCAC|||||47|INFO_REALIGN_3_PRIME 22 25115424 . GTCT G . . ANN=G|3_prime_UTR_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|21/21|c.*12_*14delAGA|||||12|,G|3_prime_UTR_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|21/21|c.*12_*14delAGA|||||12|,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|22/22|n.3265_3267delAGA||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|22/22|n.3138_3140delAGA|||||| 22 25115449 . A G . . ANN=G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|21/21|c.2639T>C|p.Phe880Ser|3060/3508|2639/2649|880/882||,G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|21/21|c.2612T>C|p.Phe871Ser|3033/3481|2612/2622|871/873||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|22/22|n.3243T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|22/22|n.3116T>C|||||| 22 25115456 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|21/21|c.2632C>T|p.Arg878Cys|3053/3508|2632/2649|878/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|21/21|c.2605C>T|p.Arg869Cys|3026/3481|2605/2622|869/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|22/22|n.3236C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|22/22|n.3109C>T|||||| 22 25115459 . T G . . ANN=G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|21/21|c.2629A>C|p.Thr877Pro|3050/3508|2629/2649|877/882||,G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|21/21|c.2602A>C|p.Thr868Pro|3023/3481|2602/2622|868/873||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|22/22|n.3233A>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|22/22|n.3106A>C|||||| 22 25115475 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|21/21|c.2613G>A|p.Pro871Pro|3034/3508|2613/2649|871/882||,T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|21/21|c.2586G>A|p.Pro862Pro|3007/3481|2586/2622|862/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|22/22|n.3217G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|22/22|n.3090G>A|||||| 22 25115524 . T C . . ANN=C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|21/21|c.2564A>G|p.Tyr855Cys|2985/3508|2564/2649|855/882||,C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|21/21|c.2537A>G|p.Tyr846Cys|2958/3481|2537/2622|846/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|22/22|n.3168A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|22/22|n.3041A>G|||||| 22 25115717 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|20/21|c.2530C>T|p.Pro844Ser|2951/3508|2530/2649|844/882||,A|missense_variant&splice_region_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|20/21|c.2503C>T|p.Pro835Ser|2924/3481|2503/2622|835/873||,A|splice_region_variant&non_coding_exon_variant|LOW|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|21/22|n.3134C>T||||||,A|splice_region_variant&non_coding_exon_variant|LOW|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|21/22|n.3007C>T|||||| 22 25115747 . A G . . ANN=G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|20/21|c.2500T>C|p.Tyr834His|2921/3508|2500/2649|834/882||,G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|20/21|c.2473T>C|p.Tyr825His|2894/3481|2473/2622|825/873||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|21/22|n.3104T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|21/22|n.2977T>C|||||| 22 25115749 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|20/21|c.2498C>T|p.Thr833Ile|2919/3508|2498/2649|833/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|20/21|c.2471C>T|p.Thr824Ile|2892/3481|2471/2622|824/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|21/22|n.3102C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|21/22|n.2975C>T|||||| 22 25115799 . G A . . ANN=A|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|20/21|c.2448C>T|p.Asn816Asn|2869/3508|2448/2649|816/882||,A|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|20/21|c.2421C>T|p.Asn807Asn|2842/3481|2421/2622|807/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|21/22|n.3052C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|21/22|n.2925C>T|||||| 22 25115814 . G A . . ANN=A|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|20/21|c.2433C>T|p.Thr811Thr|2854/3508|2433/2649|811/882||,A|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|20/21|c.2406C>T|p.Thr802Thr|2827/3481|2406/2622|802/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|21/22|n.3037C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|21/22|n.2910C>T|||||| 22 25119062 . C T . . ANN=T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|19/20|c.2384+35G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|19/20|c.2357+35G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|20/21|n.2988+35G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|20/21|n.2861+35G>A|||||| 22 25119070 . C G . . ANN=G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|19/20|c.2384+27G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|19/20|c.2357+27G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|20/21|n.2988+27G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|20/21|n.2861+27G>C|||||| 22 25119120 . A G . . ANN=G|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|19/21|c.2361T>C|p.Asp787Asp|2782/3508|2361/2649|787/882||,G|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|19/21|c.2334T>C|p.Asp778Asp|2755/3481|2334/2622|778/873||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|20/22|n.2965T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|20/22|n.2838T>C|||||| 22 25119191 . G A . . ANN=A|stop_gained|HIGH|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|19/21|c.2290C>T|p.Arg764*|2711/3508|2290/2649|764/882||,A|stop_gained|HIGH|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|19/21|c.2263C>T|p.Arg755*|2684/3481|2263/2622|755/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|20/22|n.2894C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|20/22|n.2767C>T||||||;LOF=(PIWIL3|PIWIL3|4|0.50);NMD=(PIWIL3|PIWIL3|4|0.50) 22 25119210 . A C . . ANN=C|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|19/21|c.2271T>G|p.Ala757Ala|2692/3508|2271/2649|757/882||,C|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|19/21|c.2244T>G|p.Ala748Ala|2665/3481|2244/2622|748/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|20/22|n.2875T>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|20/22|n.2748T>G|||||| 22 25120883 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|18/21|c.2229G>A|p.Ser743Ser|2650/3508|2229/2649|743/882||,T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|18/21|c.2202G>A|p.Ser734Ser|2623/3481|2202/2622|734/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|19/22|n.2833G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|19/22|n.2706G>A|||||| 22 25121376 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|17/20|c.2107+36A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|17/20|c.2080+36A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|18/21|n.2711+36A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|18/21|n.2584+36A>G|||||| 22 25121409 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|17/20|c.2107+3C>T||||||,A|splice_region_variant&intron_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|17/20|c.2080+3C>T||||||,A|splice_region_variant&intron_variant|LOW|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|18/21|n.2711+3C>T||||||,A|splice_region_variant&intron_variant|LOW|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|18/21|n.2584+3C>T|||||| 22 25121428 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|17/21|c.2091G>A|p.Leu697Leu|2512/3508|2091/2649|697/882||,T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|17/21|c.2064G>A|p.Leu688Leu|2485/3481|2064/2622|688/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|18/22|n.2695G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|18/22|n.2568G>A|||||| 22 25121518 . A G . . ANN=G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|16/20|c.2037-36T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|16/20|c.2010-36T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|17/21|n.2641-36T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|17/21|n.2514-36T>C|||||| 22 25123900 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|16/20|c.2036+17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|16/20|c.2009+17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|17/21|n.2640+17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|17/21|n.2513+17A>G|||||| 22 25123975 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|16/21|c.1978G>A|p.Val660Ile|2399/3508|1978/2649|660/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|16/21|c.1951G>A|p.Val651Ile|2372/3481|1951/2622|651/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|17/22|n.2582G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|17/22|n.2455G>A|||||| 22 25124021 . CTTAAGT C . . ANN=C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|15/20|c.1933-7_1933-2delACTTAA||||||,C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|15/20|c.1906-7_1906-2delACTTAA||||||,C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|16/21|n.2537-7_2537-2delACTTAA||||||,C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|16/21|n.2410-7_2410-2delACTTAA||||||;LOF=(PIWIL3|PIWIL3|4|0.50) 22 25124095 . C T . . ANN=T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|15/20|c.1932+49G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|15/20|c.1905+49G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|16/21|n.2536+49G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|16/21|n.2409+49G>A|||||| 22 25124143 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|15/20|c.1932+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|15/20|c.1905+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|16/21|n.2536+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|16/21|n.2409+1G>A||||||;LOF=(PIWIL3|PIWIL3|4|0.50) 22 25124155 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|15/21|c.1921G>A|p.Val641Met|2342/3508|1921/2649|641/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|15/21|c.1894G>A|p.Val632Met|2315/3481|1894/2622|632/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|16/22|n.2525G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|16/22|n.2398G>A|||||| 22 25124413 . G A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|14/20|c.1708-45C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|14/20|c.1708-72C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|15/21|n.2339-72C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|15/21|n.2212-72C>T|||||| 22 25124414 . C A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|14/20|c.1708-46G>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|14/20|c.1708-73G>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|15/21|n.2339-73G>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|15/21|n.2212-73G>T|||||| 22 25130024 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|14/20|c.1707+27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|14/20|c.1707+27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|15/21|n.2338+27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|15/21|n.2211+27A>G|||||| 22 25130050 . C A . . ANN=A|splice_donor_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|14/20|c.1707+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|14/20|c.1707+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|15/21|n.2338+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|15/21|n.2211+1G>T||||||;LOF=(PIWIL3|PIWIL3|4|0.50) 22 25130068 . T C . . ANN=C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|14/21|c.1690A>G|p.Arg564Gly|2111/3508|1690/2649|564/882||,C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|14/21|c.1690A>G|p.Arg564Gly|2111/3481|1690/2622|564/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|15/22|n.2321A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|15/22|n.2194A>G|||||| 22 25130085 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|14/21|c.1673C>T|p.Thr558Ile|2094/3508|1673/2649|558/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|14/21|c.1673C>T|p.Thr558Ile|2094/3481|1673/2622|558/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|15/22|n.2304C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|15/22|n.2177C>T|||||| 22 25130156 . G A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|13/20|c.1635-33C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|13/20|c.1635-33C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|14/21|n.2266-33C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|14/21|n.2139-33C>T|||||| 22 25130158 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|13/20|c.1635-35A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|13/20|c.1635-35A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|14/21|n.2266-35A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|14/21|n.2139-35A>G|||||| 22 25130160 . C G . . ANN=G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|13/20|c.1635-37G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|13/20|c.1635-37G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|14/21|n.2266-37G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|14/21|n.2139-37G>C|||||| 22 25131837 . T C . . ANN=C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|13/21|c.1472A>G|p.Asp491Gly|1893/3508|1472/2649|491/882||,C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|13/21|c.1472A>G|p.Asp491Gly|1893/3481|1472/2622|491/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|14/22|n.2103A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|14/22|n.1976A>G|||||| 22 25144846 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|12/20|c.1449+28A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|12/20|c.1449+28A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|13/21|n.2080+28A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|13/21|n.1953+28A>G|||||| 22 25144912 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|12/21|c.1411G>A|p.Val471Ile|1832/3508|1411/2649|471/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|12/21|c.1411G>A|p.Val471Ile|1832/3481|1411/2622|471/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|13/22|n.2042G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|13/22|n.1915G>A|||||| 22 25144996 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|11/20|c.1335-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|11/20|c.1335-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|12/21|n.1966-8A>G||||||,C|splice_region_variant&intron_variant|LOW|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|12/21|n.1839-8A>G|||||| 22 25145331 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|11/20|c.1334+40A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|11/20|c.1334+40A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|12/21|n.1965+40A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|12/21|n.1838+40A>G|||||| 22 25145393 . C A . . ANN=A|stop_gained|HIGH|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|11/21|c.1312G>T|p.Glu438*|1733/3508|1312/2649|438/882||,A|stop_gained|HIGH|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|11/21|c.1312G>T|p.Glu438*|1733/3481|1312/2622|438/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|12/22|n.1943G>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|12/22|n.1816G>T||||||;LOF=(PIWIL3|PIWIL3|4|0.50);NMD=(PIWIL3|PIWIL3|4|0.50) 22 25145453 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|11/21|c.1252G>A|p.Val418Met|1673/3508|1252/2649|418/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|11/21|c.1252G>A|p.Val418Met|1673/3481|1252/2622|418/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|12/22|n.1883G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|12/22|n.1756G>A|||||| 22 25145471 . A G . . ANN=G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|11/21|c.1234T>C|p.Cys412Arg|1655/3508|1234/2649|412/882||,G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|11/21|c.1234T>C|p.Cys412Arg|1655/3481|1234/2622|412/873||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|12/22|n.1865T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|12/22|n.1738T>C|||||| 22 25145501 . C T . . ANN=T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|10/20|c.1217-13G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|10/20|c.1217-13G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|11/21|n.1848-13G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|11/21|n.1721-13G>A|||||| 22 25145511 . C A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|10/20|c.1217-23G>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|10/20|c.1217-23G>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|11/21|n.1848-23G>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|11/21|n.1721-23G>T|||||| 22 25145631 . T A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|10/20|c.1216+29A>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|10/20|c.1216+29A>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|11/21|n.1847+29A>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|11/21|n.1720+29A>T|||||| 22 25145676 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|10/21|c.1200G>A|p.Gln400Gln|1621/3508|1200/2649|400/882||,T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|10/21|c.1200G>A|p.Gln400Gln|1621/3481|1200/2622|400/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|11/22|n.1831G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|11/22|n.1704G>A|||||| 22 25145713 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|10/21|c.1163C>T|p.Thr388Met|1584/3508|1163/2649|388/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|10/21|c.1163C>T|p.Thr388Met|1584/3481|1163/2622|388/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|11/22|n.1794C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|11/22|n.1667C>T|||||| 22 25145753 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|10/21|c.1123C>T|p.Pro375Ser|1544/3508|1123/2649|375/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|10/21|c.1123C>T|p.Pro375Ser|1544/3481|1123/2622|375/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|11/22|n.1754C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|11/22|n.1627C>T|||||| 22 25145799 . C CAA . . ANN=CAA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|9/20|c.1090-14_1090-13insTT||||||,CAA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|9/20|c.1090-14_1090-13insTT||||||,CAA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|10/21|n.1721-14_1721-13insTT||||||,CAA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|10/21|n.1594-14_1594-13insTT|||||| 22 25147324 . A G . . ANN=G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|9/20|c.1089+30T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|9/20|c.1089+30T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|10/21|n.1720+30T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|10/21|n.1593+30T>C|||||| 22 25147389 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|9/21|c.1054G>A|p.Gly352Ser|1475/3508|1054/2649|352/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|9/21|c.1054G>A|p.Gly352Ser|1475/3481|1054/2622|352/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|10/22|n.1685G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|10/22|n.1558G>A|||||| 22 25147423 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|9/21|c.1020G>A|p.Lys340Lys|1441/3508|1020/2649|340/882||,T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|9/21|c.1020G>A|p.Lys340Lys|1441/3481|1020/2622|340/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|10/22|n.1651G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|10/22|n.1524G>A|||||| 22 25147456 . G T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|9/21|c.987C>A|p.Asn329Lys|1408/3508|987/2649|329/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|9/21|c.987C>A|p.Asn329Lys|1408/3481|987/2622|329/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|10/22|n.1618C>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|10/22|n.1491C>A|||||| 22 25147461 . T C . . ANN=C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|9/21|c.982A>G|p.Asn328Asp|1403/3508|982/2649|328/882||,C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|9/21|c.982A>G|p.Asn328Asp|1403/3481|982/2622|328/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|10/22|n.1613A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|10/22|n.1486A>G|||||| 22 25149952 . T G . . ANN=G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|8/20|c.977+29A>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|8/20|c.977+29A>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|9/21|n.1608+29A>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|9/21|n.1481+29A>C|||||| 22 25149988 . G C . . ANN=C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|8/21|c.970C>G|p.Leu324Val|1391/3508|970/2649|324/882||,C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|8/21|c.970C>G|p.Leu324Val|1391/3481|970/2622|324/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|9/22|n.1601C>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|9/22|n.1474C>G|||||| 22 25150005 . A C . . ANN=C|stop_gained|HIGH|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|8/21|c.953T>G|p.Leu318*|1374/3508|953/2649|318/882||,C|stop_gained|HIGH|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|8/21|c.953T>G|p.Leu318*|1374/3481|953/2622|318/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|9/22|n.1584T>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|9/22|n.1457T>G||||||;LOF=(PIWIL3|PIWIL3|4|0.50);NMD=(PIWIL3|PIWIL3|4|0.50) 22 25150051 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|8/21|c.907G>A|p.Ala303Thr|1328/3508|907/2649|303/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|8/21|c.907G>A|p.Ala303Thr|1328/3481|907/2622|303/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|9/22|n.1538G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|9/22|n.1411G>A|||||| 22 25150073 . A G . . ANN=G|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|8/21|c.885T>C|p.Tyr295Tyr|1306/3508|885/2649|295/882||,G|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|8/21|c.885T>C|p.Tyr295Tyr|1306/3481|885/2622|295/873||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|9/22|n.1516T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|9/22|n.1389T>C|||||| 22 25150138 . A G . . ANN=G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|8/21|c.820T>C|p.Tyr274His|1241/3508|820/2649|274/882||,G|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|8/21|c.820T>C|p.Tyr274His|1241/3481|820/2622|274/873||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|9/22|n.1451T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|9/22|n.1324T>C|||||| 22 25150199 . A T . . ANN=T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|7/20|c.774-15T>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|7/20|c.774-15T>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|8/21|n.1405-15T>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|8/21|n.1278-15T>A|||||| 22 25150209 . T TA . . ANN=TA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|7/20|c.774-26_774-25insT||||||,TA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|7/20|c.774-26_774-25insT||||||,TA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|8/21|n.1405-26_1405-25insT||||||,TA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|8/21|n.1278-26_1278-25insT|||||| 22 25150220 . C G . . ANN=G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|7/20|c.774-36G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|7/20|c.774-36G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|8/21|n.1405-36G>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|8/21|n.1278-36G>C|||||| 22 25150757 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|7/21|c.767G>A|p.Arg256His|1188/3508|767/2649|256/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|7/21|c.767G>A|p.Arg256His|1188/3481|767/2622|256/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|8/22|n.1398G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|8/22|n.1271G>A|||||| 22 25150797 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|7/21|c.727C>T|p.Arg243Cys|1148/3508|727/2649|243/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|7/21|c.727C>T|p.Arg243Cys|1148/3481|727/2622|243/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|8/22|n.1358C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|8/22|n.1231C>T|||||| 22 25151741 . G A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|6/20|c.692+10C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|6/20|c.692+10C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|7/21|n.1323+10C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|7/21|n.1196+10C>T|||||| 22 25151792 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|6/21|c.651G>A|p.Thr217Thr|1072/3508|651/2649|217/882||,T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|6/21|c.651G>A|p.Thr217Thr|1072/3481|651/2622|217/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|7/22|n.1282G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|7/22|n.1155G>A|||||| 22 25151833 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|6/21|c.610G>A|p.Val204Met|1031/3508|610/2649|204/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|6/21|c.610G>A|p.Val204Met|1031/3481|610/2622|204/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|7/22|n.1241G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|7/22|n.1114G>A|||||| 22 25151880 . T TA . . ANN=TA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/20|c.571-9_571-8insT||||||,TA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/20|c.571-9_571-8insT||||||,TA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/21|n.1202-9_1202-8insT||||||,TA|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/21|n.1075-9_1075-8insT|||||| 22 25151888 . AAC A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/20|c.571-18_571-17delGT||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/20|c.571-18_571-17delGT||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/21|n.1202-18_1202-17delGT||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/21|n.1075-18_1075-17delGT|||||| 22 25151889 . AC A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/20|c.571-18delG||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/20|c.571-18delG||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/21|n.1202-18delG||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/21|n.1075-18delG|||||| 22 25151890 . CA C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/20|c.571-19delT||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/20|c.571-19delT||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/21|n.1202-19delT||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/21|n.1075-19delT|||||| 22 25152416 . AAGAG A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/20|c.570+38_570+41delCTCT||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/20|c.570+38_570+41delCTCT||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/21|n.1201+38_1201+41delCTCT||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/21|n.1074+38_1074+41delCTCT|||||| 22 25152463 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.565G>A|p.Glu189Lys|986/3508|565/2649|189/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.565G>A|p.Glu189Lys|986/3481|565/2622|189/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1196G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.1069G>A|||||| 22 25152471 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.557C>T|p.Pro186Leu|978/3508|557/2649|186/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.557C>T|p.Pro186Leu|978/3481|557/2622|186/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1188C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.1061C>T|||||| 22 25152475 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.553C>T|p.Arg185Trp|974/3508|553/2649|185/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.553C>T|p.Arg185Trp|974/3481|553/2622|185/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1184C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.1057C>T|||||| 22 25152477 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.551C>T|p.Ser184Phe|972/3508|551/2649|184/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.551C>T|p.Ser184Phe|972/3481|551/2622|184/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1182C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.1055C>T|||||| 22 25152499 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.529G>A|p.Asp177Asn|950/3508|529/2649|177/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.529G>A|p.Asp177Asn|950/3481|529/2622|177/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1160G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.1033G>A|||||| 22 25152511 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.517C>T|p.Arg173Cys|938/3508|517/2649|173/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.517C>T|p.Arg173Cys|938/3481|517/2622|173/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1148C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.1021C>T|||||| 22 25152553 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.475C>T|p.Arg159Cys|896/3508|475/2649|159/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.475C>T|p.Arg159Cys|896/3481|475/2622|159/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1106C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.979C>T|||||| 22 25152618 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.410G>A|p.Arg137His|831/3508|410/2649|137/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.410G>A|p.Arg137His|831/3481|410/2622|137/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1041G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.914G>A|||||| 22 25152652 . G C . . ANN=C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|5/21|c.376C>G|p.Gln126Glu|797/3508|376/2649|126/882||,C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|5/21|c.376C>G|p.Gln126Glu|797/3481|376/2622|126/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|6/22|n.1007C>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|6/22|n.880C>G|||||| 22 25153864 . G A . . ANN=A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|4/20|c.355+11C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|4/20|c.355+11C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|5/21|n.986+11C>T||||||,A|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|5/21|n.859+11C>T|||||| 22 25153963 . G A . . ANN=A|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|4/21|c.267C>T|p.Pro89Pro|688/3508|267/2649|89/882||,A|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|4/21|c.267C>T|p.Pro89Pro|688/3481|267/2622|89/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|5/22|n.898C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|5/22|n.771C>T|||||| 22 25153966 . C T . . ANN=T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|4/21|c.264G>A|p.Ala88Ala|685/3508|264/2649|88/882||,T|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|4/21|c.264G>A|p.Ala88Ala|685/3481|264/2622|88/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|5/22|n.895G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|5/22|n.768G>A|||||| 22 25154022 . C T . . ANN=T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|3/20|c.224-16G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|3/20|c.224-16G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|4/21|n.855-16G>A||||||,T|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|4/21|n.728-16G>A|||||| 22 25155857 . CTGCTCCTCCTCT C . . ANN=C|inframe_deletion|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|3/21|c.190_201delAGAGGAGGAGCA|p.Arg64_Ala67del|622/3508|190/2649|64/882||,C|inframe_deletion|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|3/21|c.190_201delAGAGGAGGAGCA|p.Arg64_Ala67del|622/3481|190/2622|64/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|4/22|n.821_832delAGAGGAGGAGCA||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|4/22|n.694_705delAGAGGAGGAGCA|||||| 22 25155922 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|3/21|c.137G>A|p.Arg46Gln|558/3508|137/2649|46/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|3/21|c.137G>A|p.Arg46Gln|558/3481|137/2622|46/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|4/22|n.768G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|4/22|n.641G>A|||||| 22 25155925 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|3/21|c.134C>T|p.Pro45Leu|555/3508|134/2649|45/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|3/21|c.134C>T|p.Pro45Leu|555/3481|134/2622|45/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|4/22|n.765C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|4/22|n.638C>T|||||| 22 25155952 . TG T . . ANN=T|frameshift_variant|HIGH|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|3/21|c.106delC|p.Gln36fs|527/3508|106/2649|36/882||,T|frameshift_variant|HIGH|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|3/21|c.106delC|p.Gln36fs|527/3481|106/2622|36/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|4/22|n.737delC||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|4/22|n.610delC|||||| 22 25155983 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/20|c.103-27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/20|c.103-27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/21|n.734-27A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|3/21|n.607-27A>G|||||| 22 25158326 . A G . . ANN=G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/20|c.102+39T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/20|c.102+39T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/21|n.523+39T>C||||||,G|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.681T>C|||||| 22 25158384 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.83G>A|p.Arg28Lys|504/3508|83/2649|28/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.83G>A|p.Arg28Lys|504/3481|83/2622|28/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.623G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.504G>A|||||| 22 25158391 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.76G>A|p.Gly26Arg|497/3508|76/2649|26/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.76G>A|p.Gly26Arg|497/3481|76/2622|26/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.616G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.497G>A|||||| 22 25158398 . T C . . ANN=C|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.69A>G|p.Ala23Ala|490/3508|69/2649|23/882||,C|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.69A>G|p.Ala23Ala|490/3481|69/2622|23/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.609A>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.490A>G|||||| 22 25158404 . T A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.63A>T|p.Gln21His|484/3508|63/2649|21/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.63A>T|p.Gln21His|484/3481|63/2622|21/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.603A>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.484A>T|||||| 22 25158423 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.44G>A|p.Arg15His|465/3508|44/2649|15/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.44G>A|p.Arg15His|465/3481|44/2622|15/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.584G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.465G>A|||||| 22 25158438 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.29G>A|p.Arg10Gln|450/3508|29/2649|10/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.29G>A|p.Arg10Gln|450/3481|29/2622|10/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.569G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.450G>A|||||| 22 25158439 . G C . . ANN=C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.28C>G|p.Arg10Gly|449/3508|28/2649|10/882||,C|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.28C>G|p.Arg10Gly|449/3481|28/2622|10/873||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.568C>G||||||,C|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.449C>G|||||| 22 25158443 . G A . . ANN=A|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.24C>T|p.Arg8Arg|445/3508|24/2649|8/882||,A|synonymous_variant|LOW|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.24C>T|p.Arg8Arg|445/3481|24/2622|8/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.564C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.445C>T|||||| 22 25158444 . C T . . ANN=T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.23G>A|p.Arg8His|444/3508|23/2649|8/882||,T|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.23G>A|p.Arg8His|444/3481|23/2622|8/873||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.563G>A||||||,T|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.444G>A|||||| 22 25158445 . G A . . ANN=A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|2/21|c.22C>T|p.Arg8Cys|443/3508|22/2649|8/882||,A|missense_variant|MODERATE|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|2/21|c.22C>T|p.Arg8Cys|443/3481|22/2622|8/873||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|3/22|n.562C>T||||||,A|non_coding_exon_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|2/22|n.443C>T|||||| 22 25158505 . T C . . ANN=C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|1/20|c.-22-17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|1/20|c.-22-17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|2/21|n.519-17A>G||||||,C|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|1/21|n.400-17A>G|||||| 22 25158513 . A G . . ANN=G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001008496.3|Coding|1/20|c.-22-25T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NM_001255975.1|Coding|1/20|c.-22-25T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045648.1|Noncoding|2/21|n.519-25T>C||||||,G|intron_variant|MODIFIER|PIWIL3|PIWIL3|transcript|NR_045649.1|Noncoding|1/21|n.400-25T>C|||||| 22 25202463 . G C . . ANN=C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|2/25|c.63+12G>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|2/24|c.63+12G>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|2/23|c.63+12G>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|2/24|c.63+12G>C|||||| 22 25240847 . T C . . ANN=C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|2/25|c.64-17T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|2/24|c.64-17T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|2/23|c.64-17T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|2/24|c.64-17T>C|||||| 22 25240987 . C T . . ANN=T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|3/25|c.139+48C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|3/24|c.139+48C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|3/23|c.139+48C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|3/24|c.139+48C>T|||||| 22 25243557 . G A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|3/25|c.140-44G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|3/24|c.140-44G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|3/23|c.140-44G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|3/24|c.140-44G>A|||||| 22 25243626 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|4/26|c.165C>T|p.His55His|322/6176|165/3447|55/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|4/25|c.165C>T|p.His55His|322/6011|165/3282|55/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|4/24|c.165C>T|p.His55His|322/5828|165/3099|55/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|4/25|c.165C>T|p.His55His|322/5993|165/3264|55/1087|| 22 25243706 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|4/26|c.245C>T|p.Pro82Leu|402/6176|245/3447|82/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|4/25|c.245C>T|p.Pro82Leu|402/6011|245/3282|82/1093||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|4/24|c.245C>T|p.Pro82Leu|402/5828|245/3099|82/1032||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|4/25|c.245C>T|p.Pro82Leu|402/5993|245/3264|82/1087|| 22 25243709 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|4/26|c.248C>T|p.Pro83Leu|405/6176|248/3447|83/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|4/25|c.248C>T|p.Pro83Leu|405/6011|248/3282|83/1093||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|4/24|c.248C>T|p.Pro83Leu|405/5828|248/3099|83/1032||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|4/25|c.248C>T|p.Pro83Leu|405/5993|248/3264|83/1087|| 22 25246287 . C G . . ANN=G|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|5/26|c.343C>G|p.Leu115Val|500/6176|343/3447|115/1148||,G|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|5/25|c.343C>G|p.Leu115Val|500/6011|343/3282|115/1093||,G|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|5/24|c.343C>G|p.Leu115Val|500/5828|343/3099|115/1032||,G|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|5/25|c.343C>G|p.Leu115Val|500/5993|343/3264|115/1087|| 22 25246311 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|5/26|c.367C>T|p.Pro123Ser|524/6176|367/3447|123/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|5/25|c.367C>T|p.Pro123Ser|524/6011|367/3282|123/1093||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|5/24|c.367C>T|p.Pro123Ser|524/5828|367/3099|123/1032||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|5/25|c.367C>T|p.Pro123Ser|524/5993|367/3264|123/1087|| 22 25246313 . A G . . ANN=G|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|5/26|c.369A>G|p.Pro123Pro|526/6176|369/3447|123/1148||,G|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|5/25|c.369A>G|p.Pro123Pro|526/6011|369/3282|123/1093||,G|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|5/24|c.369A>G|p.Pro123Pro|526/5828|369/3099|123/1032||,G|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|5/25|c.369A>G|p.Pro123Pro|526/5993|369/3264|123/1087|| 22 25246440 . C A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|5/25|c.455+41C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|5/24|c.455+41C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|5/23|c.455+41C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|5/24|c.455+41C>A|||||| 22 25251027 . T C . . ANN=C|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|6/26|c.520T>C|p.Leu174Leu|677/6176|520/3447|174/1148||,C|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|6/25|c.520T>C|p.Leu174Leu|677/6011|520/3282|174/1093||,C|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|6/24|c.520T>C|p.Leu174Leu|677/5828|520/3099|174/1032||,C|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|6/25|c.520T>C|p.Leu174Leu|677/5993|520/3264|174/1087|| 22 25251372 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|7/26|c.644C>T|p.Ser215Leu|801/6176|644/3447|215/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|7/25|c.644C>T|p.Ser215Leu|801/6011|644/3282|215/1093||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|7/24|c.644C>T|p.Ser215Leu|801/5828|644/3099|215/1032||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|7/25|c.644C>T|p.Ser215Leu|801/5993|644/3264|215/1087|| 22 25251378 . C A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|7/26|c.650C>A|p.Thr217Asn|807/6176|650/3447|217/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|7/25|c.650C>A|p.Thr217Asn|807/6011|650/3282|217/1093||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|7/24|c.650C>A|p.Thr217Asn|807/5828|650/3099|217/1032||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|7/25|c.650C>A|p.Thr217Asn|807/5993|650/3264|217/1087|| 22 25251477 . C G . . ANN=G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|7/25|c.670-39C>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|7/24|c.670-39C>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|7/23|c.670-39C>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|7/24|c.670-39C>G|||||| 22 25251500 . C T . . ANN=T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|7/25|c.670-16C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|7/24|c.670-16C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|7/23|c.670-16C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|7/24|c.670-16C>T|||||| 22 25251504 . A C . . ANN=C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|7/25|c.670-12A>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|7/24|c.670-12A>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|7/23|c.670-12A>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|7/24|c.670-12A>C|||||| 22 25251516 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|8/26|c.670A>G|p.Ile224Val|827/6176|670/3447|224/1148||,G|missense_variant&splice_region_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|8/25|c.670A>G|p.Ile224Val|827/6011|670/3282|224/1093||,G|missense_variant&splice_region_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|8/24|c.670A>G|p.Ile224Val|827/5828|670/3099|224/1032||,G|missense_variant&splice_region_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|8/25|c.670A>G|p.Ile224Val|827/5993|670/3264|224/1087|| 22 25251520 . A C . . ANN=C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|8/26|c.674A>C|p.Gln225Pro|831/6176|674/3447|225/1148||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|8/25|c.674A>C|p.Gln225Pro|831/6011|674/3282|225/1093||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|8/24|c.674A>C|p.Gln225Pro|831/5828|674/3099|225/1032||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|8/25|c.674A>C|p.Gln225Pro|831/5993|674/3264|225/1087|| 22 25251671 . A C . . ANN=C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|8/25|c.801+24A>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|8/24|c.801+24A>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|8/23|c.801+24A>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|8/24|c.801+24A>C|||||| 22 25255688 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|9/26|c.807C>T|p.Asp269Asp|964/6176|807/3447|269/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|9/25|c.807C>T|p.Asp269Asp|964/6011|807/3282|269/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|9/24|c.807C>T|p.Asp269Asp|964/5828|807/3099|269/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|9/25|c.807C>T|p.Asp269Asp|964/5993|807/3264|269/1087|| 22 25263048 . G A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|9/25|c.927-12G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|9/24|c.927-12G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|9/23|c.927-12G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|9/24|c.927-12G>A|||||| 22 25263123 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|10/26|c.990G>A|p.Gln330Gln|1147/6176|990/3447|330/1148||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|10/25|c.990G>A|p.Gln330Gln|1147/6011|990/3282|330/1093||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|10/24|c.990G>A|p.Gln330Gln|1147/5828|990/3099|330/1032||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|10/25|c.990G>A|p.Gln330Gln|1147/5993|990/3264|330/1087|| 22 25264353 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|11/26|c.1005C>T|p.Gly335Gly|1162/6176|1005/3447|335/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|11/25|c.1005C>T|p.Gly335Gly|1162/6011|1005/3282|335/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|11/24|c.1005C>T|p.Gly335Gly|1162/5828|1005/3099|335/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|11/25|c.1005C>T|p.Gly335Gly|1162/5993|1005/3264|335/1087|| 22 25264482 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|11/26|c.1134G>A|p.Pro378Pro|1291/6176|1134/3447|378/1148||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|11/25|c.1134G>A|p.Pro378Pro|1291/6011|1134/3282|378/1093||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|11/24|c.1134G>A|p.Pro378Pro|1291/5828|1134/3099|378/1032||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|11/25|c.1134G>A|p.Pro378Pro|1291/5993|1134/3264|378/1087|| 22 25264646 . A ACAGAT . . ANN=ACAGAT|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|11/25|c.1159-44_1159-43insCAGAT||||||,ACAGAT|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|11/24|c.1159-44_1159-43insCAGAT||||||,ACAGAT|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|11/23|c.1159-44_1159-43insCAGAT||||||,ACAGAT|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|11/24|c.1159-44_1159-43insCAGAT|||||| 22 25264651 . T C . . ANN=C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|11/25|c.1159-39T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|11/24|c.1159-39T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|11/23|c.1159-39T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|11/24|c.1159-39T>C|||||| 22 25264730 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|12/26|c.1199G>A|p.Gly400Asp|1356/6176|1199/3447|400/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/25|c.1199G>A|p.Gly400Asp|1356/6011|1199/3282|400/1093||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/24|c.1199G>A|p.Gly400Asp|1356/5828|1199/3099|400/1032||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|12/25|c.1199G>A|p.Gly400Asp|1356/5993|1199/3264|400/1087|| 22 25264776 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|12/26|c.1245G>A|p.Thr415Thr|1402/6176|1245/3447|415/1148||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/25|c.1245G>A|p.Thr415Thr|1402/6011|1245/3282|415/1093||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/24|c.1245G>A|p.Thr415Thr|1402/5828|1245/3099|415/1032||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|12/25|c.1245G>A|p.Thr415Thr|1402/5993|1245/3264|415/1087|| 22 25264869 . C T . . ANN=T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|12/25|c.1291+47C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1291+47C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1291+47C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|12/24|c.1291+47C>T|||||| 22 25270344 . C A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|12/25|c.1292-38C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1292-2200C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1292-2200C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|12/24|c.1292-38C>A|||||| 22 25270390 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|13/26|c.1300G>A|p.Asp434Asn|1457/6176|1300/3447|434/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|13/25|c.1300G>A|p.Asp434Asn|1457/5993|1300/3264|434/1087||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1292-2154G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1292-2154G>A|||||| 22 25270441 . G C . . ANN=C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|13/26|c.1351G>C|p.Val451Leu|1508/6176|1351/3447|451/1148||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|13/25|c.1351G>C|p.Val451Leu|1508/5993|1351/3264|451/1087||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1292-2103G>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1292-2103G>C|||||| 22 25270455 . G C . . ANN=C|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|13/26|c.1365G>C|p.Arg455Arg|1522/6176|1365/3447|455/1148||,C|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|13/25|c.1365G>C|p.Arg455Arg|1522/5993|1365/3264|455/1087||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1292-2089G>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1292-2089G>C|||||| 22 25270520 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|13/26|c.1430C>T|p.Thr477Met|1587/6176|1430/3447|477/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|13/25|c.1430C>T|p.Thr477Met|1587/5993|1430/3264|477/1087||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1292-2024C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1292-2024C>T|||||| 22 25270529 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|13/26|c.1439C>T|p.Pro480Leu|1596/6176|1439/3447|480/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|13/25|c.1439C>T|p.Pro480Leu|1596/5993|1439/3264|480/1087||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1292-2015C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1292-2015C>T|||||| 22 25270567 . G T . . ANN=T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|13/25|c.1456+21G>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1292-1977G>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1292-1977G>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|13/24|c.1456+21G>T|||||| 22 25272533 . A G . . ANN=G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|13/25|c.1457-11A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|12/24|c.1292-11A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|12/23|c.1292-11A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|13/24|c.1457-11A>G|||||| 22 25272606 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|14/26|c.1519C>T|p.Arg507Trp|1676/6176|1519/3447|507/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|13/25|c.1354C>T|p.Arg452Trp|1511/6011|1354/3282|452/1093||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|13/24|c.1354C>T|p.Arg452Trp|1511/5828|1354/3099|452/1032||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|14/25|c.1519C>T|p.Arg507Trp|1676/5993|1519/3264|507/1087|| 22 25272645 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|14/26|c.1558G>A|p.Ala520Thr|1715/6176|1558/3447|520/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|13/25|c.1393G>A|p.Ala465Thr|1550/6011|1393/3282|465/1093||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|13/24|c.1393G>A|p.Ala465Thr|1550/5828|1393/3099|465/1032||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|14/25|c.1558G>A|p.Ala520Thr|1715/5993|1558/3264|520/1087|| 22 25275393 . T C . . ANN=C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|14/25|c.1596-36T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|13/24|c.1431-36T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|13/23|c.1431-36T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|14/24|c.1596-36T>C|||||| 22 25275523 . C A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|15/25|c.1660+30C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|14/24|c.1495+30C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|14/23|c.1495+30C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|15/24|c.1660+30C>A|||||| 22 25280022 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|16/26|c.1663C>T|p.Leu555Leu|1820/6176|1663/3447|555/1148||,T|splice_region_variant&synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|15/25|c.1498C>T|p.Leu500Leu|1655/6011|1498/3282|500/1093||,T|splice_region_variant&synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|15/24|c.1498C>T|p.Leu500Leu|1655/5828|1498/3099|500/1032||,T|splice_region_variant&synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|16/25|c.1663C>T|p.Leu555Leu|1820/5993|1663/3264|555/1087|| 22 25280048 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|16/26|c.1689C>T|p.Thr563Thr|1846/6176|1689/3447|563/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|15/25|c.1524C>T|p.Thr508Thr|1681/6011|1524/3282|508/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|15/24|c.1524C>T|p.Thr508Thr|1681/5828|1524/3099|508/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|16/25|c.1689C>T|p.Thr563Thr|1846/5993|1689/3264|563/1087|| 22 25280070 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|16/26|c.1711C>T|p.Leu571Leu|1868/6176|1711/3447|571/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|15/25|c.1546C>T|p.Leu516Leu|1703/6011|1546/3282|516/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|15/24|c.1546C>T|p.Leu516Leu|1703/5828|1546/3099|516/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|16/25|c.1711C>T|p.Leu571Leu|1868/5993|1711/3264|571/1087|| 22 25280157 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|16/26|c.1798G>A|p.Asp600Asn|1955/6176|1798/3447|600/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|15/25|c.1633G>A|p.Asp545Asn|1790/6011|1633/3282|545/1093||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|15/24|c.1633G>A|p.Asp545Asn|1790/5828|1633/3099|545/1032||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|16/25|c.1798G>A|p.Asp600Asn|1955/5993|1798/3264|600/1087|| 22 25280181 . G A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|16/25|c.1806+16G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|15/24|c.1641+16G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|15/23|c.1641+16G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|16/24|c.1806+16G>A|||||| 22 25280189 . T G . . ANN=G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|16/25|c.1806+24T>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|15/24|c.1641+24T>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|15/23|c.1641+24T>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|16/24|c.1806+24T>G|||||| 22 25282605 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|17/26|c.1845C>T|p.Tyr615Tyr|2002/6176|1845/3447|615/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|16/25|c.1680C>T|p.Tyr560Tyr|1837/6011|1680/3282|560/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/24|c.1680C>T|p.Tyr560Tyr|1837/5828|1680/3099|560/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/25|c.1845C>T|p.Tyr615Tyr|2002/5993|1845/3264|615/1087|| 22 25282635 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|17/26|c.1875C>T|p.Ala625Ala|2032/6176|1875/3447|625/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|16/25|c.1710C>T|p.Ala570Ala|1867/6011|1710/3282|570/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/24|c.1710C>T|p.Ala570Ala|1867/5828|1710/3099|570/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/25|c.1875C>T|p.Ala625Ala|2032/5993|1875/3264|625/1087|| 22 25282676 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|17/26|c.1916C>T|p.Thr639Met|2073/6176|1916/3447|639/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|16/25|c.1751C>T|p.Thr584Met|1908/6011|1751/3282|584/1093||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/24|c.1751C>T|p.Thr584Met|1908/5828|1751/3099|584/1032||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/25|c.1916C>T|p.Thr639Met|2073/5993|1916/3264|639/1087|| 22 25282711 . T C . . ANN=C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|17/25|c.1935+16T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|16/24|c.1770+16T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/23|c.1770+16T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/24|c.1935+16T>C|||||| 22 25289356 . C T . . ANN=T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|17/25|c.1936-42C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|16/24|c.1771-42C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/23|c.1771-1834C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/24|c.1936-1834C>T|||||| 22 25289448 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|18/26|c.1986G>A|p.Leu662Leu|2143/6176|1986/3447|662/1148||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|17/25|c.1821G>A|p.Leu607Leu|1978/6011|1821/3282|607/1093||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/23|c.1771-1742G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/24|c.1936-1742G>A|||||| 22 25289468 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|18/26|c.2006G>A|p.Arg669Gln|2163/6176|2006/3447|669/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|17/25|c.1841G>A|p.Arg614Gln|1998/6011|1841/3282|614/1093||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/23|c.1771-1722G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/24|c.1936-1722G>A|||||| 22 25289499 . C A . . ANN=A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|18/26|c.2037C>A|p.Ala679Ala|2194/6176|2037/3447|679/1148||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|17/25|c.1872C>A|p.Ala624Ala|2029/6011|1872/3282|624/1093||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/23|c.1771-1691C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/24|c.1936-1691C>A|||||| 22 25289589 . C T . . ANN=T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|18/25|c.2118+9C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|17/24|c.1953+9C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/23|c.1771-1601C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/24|c.1936-1601C>T|||||| 22 25289609 . G T . . ANN=T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|18/25|c.2118+29G>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|17/24|c.1953+29G>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/23|c.1771-1581G>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/24|c.1936-1581G>T|||||| 22 25291182 . TTTC T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|18/25|c.2119-7_2119-5delTTC||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|17/24|c.1954-7_1954-5delTTC||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|16/23|c.1771-7_1771-5delTTC||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|17/24|c.1936-7_1936-5delTTC|||||| 22 25291210 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|19/26|c.2139G>A|p.Ser713Ser|2296/6176|2139/3447|713/1148||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|18/25|c.1974G>A|p.Ser658Ser|2131/6011|1974/3282|658/1093||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|17/24|c.1791G>A|p.Ser597Ser|1948/5828|1791/3099|597/1032||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|18/25|c.1956G>A|p.Ser652Ser|2113/5993|1956/3264|652/1087|| 22 25293936 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|19/25|c.2188-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|18/24|c.2023-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|17/23|c.1840-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|18/24|c.2005-3C>T|||||| 22 25293954 . G C . . ANN=C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2203G>C|p.Asp735His|2360/6176|2203/3447|735/1148||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2038G>C|p.Asp680His|2195/6011|2038/3282|680/1093||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.1855G>C|p.Asp619His|2012/5828|1855/3099|619/1032||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2020G>C|p.Asp674His|2177/5993|2020/3264|674/1087|| 22 25294155 . A C . . ANN=C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2404A>C|p.Thr802Pro|2561/6176|2404/3447|802/1148||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2239A>C|p.Thr747Pro|2396/6011|2239/3282|747/1093||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2056A>C|p.Thr686Pro|2213/5828|2056/3099|686/1032||,C|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2221A>C|p.Thr741Pro|2378/5993|2221/3264|741/1087|| 22 25294234 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2483G>A|p.Arg828Gln|2640/6176|2483/3447|828/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2318G>A|p.Arg773Gln|2475/6011|2318/3282|773/1093||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2135G>A|p.Arg712Gln|2292/5828|2135/3099|712/1032||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2300G>A|p.Arg767Gln|2457/5993|2300/3264|767/1087|| 22 25294247 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2496C>T|p.Ala832Ala|2653/6176|2496/3447|832/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2331C>T|p.Ala777Ala|2488/6011|2331/3282|777/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2148C>T|p.Ala716Ala|2305/5828|2148/3099|716/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2313C>T|p.Ala771Ala|2470/5993|2313/3264|771/1087|| 22 25294260 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2509C>T|p.Leu837Leu|2666/6176|2509/3447|837/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2344C>T|p.Leu782Leu|2501/6011|2344/3282|782/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2161C>T|p.Leu721Leu|2318/5828|2161/3099|721/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2326C>T|p.Leu776Leu|2483/5993|2326/3264|776/1087|| 22 25294346 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2595C>T|p.Asp865Asp|2752/6176|2595/3447|865/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2430C>T|p.Asp810Asp|2587/6011|2430/3282|810/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2247C>T|p.Asp749Asp|2404/5828|2247/3099|749/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2412C>T|p.Asp804Asp|2569/5993|2412/3264|804/1087|| 22 25294369 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2618G>A|p.Arg873Lys|2775/6176|2618/3447|873/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2453G>A|p.Arg818Lys|2610/6011|2453/3282|818/1093||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2270G>A|p.Arg757Lys|2427/5828|2270/3099|757/1032||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2435G>A|p.Arg812Lys|2592/5993|2435/3264|812/1087|| 22 25294376 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2625C>T|p.Ser875Ser|2782/6176|2625/3447|875/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2460C>T|p.Ser820Ser|2617/6011|2460/3282|820/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2277C>T|p.Ser759Ser|2434/5828|2277/3099|759/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2442C>T|p.Ser814Ser|2599/5993|2442/3264|814/1087|| 22 25294399 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2648C>T|p.Ala883Val|2805/6176|2648/3447|883/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2483C>T|p.Ala828Val|2640/6011|2483/3282|828/1093||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2300C>T|p.Ala767Val|2457/5828|2300/3099|767/1032||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2465C>T|p.Ala822Val|2622/5993|2465/3264|822/1087|| 22 25294420 . C T . . ANN=T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2669C>T|p.Ser890Leu|2826/6176|2669/3447|890/1148||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2504C>T|p.Ser835Leu|2661/6011|2504/3282|835/1093||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2321C>T|p.Ser774Leu|2478/5828|2321/3099|774/1032||,T|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2486C>T|p.Ser829Leu|2643/5993|2486/3264|829/1087|| 22 25294511 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2760C>T|p.Ser920Ser|2917/6176|2760/3447|920/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2595C>T|p.Ser865Ser|2752/6011|2595/3282|865/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2412C>T|p.Ser804Ser|2569/5828|2412/3099|804/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2577C>T|p.Ser859Ser|2734/5993|2577/3264|859/1087|| 22 25294514 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/26|c.2763C>T|p.Gly921Gly|2920/6176|2763/3447|921/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/25|c.2598C>T|p.Gly866Gly|2755/6011|2598/3282|866/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/24|c.2415C>T|p.Gly805Gly|2572/5828|2415/3099|805/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/25|c.2580C>T|p.Gly860Gly|2737/5993|2580/3264|860/1087|| 22 25294534 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/25|c.2775+8A>G||||||,G|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/24|c.2610+8A>G||||||,G|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/23|c.2427+8A>G||||||,G|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/24|c.2592+8A>G|||||| 22 25294539 . G A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/25|c.2775+13G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/24|c.2610+13G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/23|c.2427+13G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/24|c.2592+13G>A|||||| 22 25297751 . A G . . ANN=G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/25|c.2776-49A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/24|c.2611-49A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/23|c.2428-49A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/24|c.2593-49A>G|||||| 22 25297755 . G A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/25|c.2776-45G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/24|c.2611-45G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/23|c.2428-45G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/24|c.2593-45G>A|||||| 22 25297771 . C A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/25|c.2776-29C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/24|c.2611-29C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/23|c.2428-29C>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/24|c.2593-29C>A|||||| 22 25297780 . C G . . ANN=G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|20/25|c.2776-20C>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|19/24|c.2611-20C>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|18/23|c.2428-20C>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|19/24|c.2593-20C>G|||||| 22 25297856 . G A . . ANN=A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|21/26|c.2832G>A|p.Gln944Gln|2989/6176|2832/3447|944/1148||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|20/25|c.2667G>A|p.Gln889Gln|2824/6011|2667/3282|889/1093||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|19/24|c.2484G>A|p.Gln828Gln|2641/5828|2484/3099|828/1032||,A|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|20/25|c.2649G>A|p.Gln883Gln|2806/5993|2649/3264|883/1087|| 22 25297965 . T C . . ANN=C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|21/25|c.2900+41T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|20/24|c.2735+41T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|19/23|c.2552+41T>C||||||,C|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|20/24|c.2717+41T>C|||||| 22 25301037 . C T . . ANN=T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|21/25|c.2901-35C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|20/24|c.2736-35C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|19/23|c.2553-35C>T||||||,T|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|20/24|c.2718-35C>T|||||| 22 25301038 . G A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|21/25|c.2901-34G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|20/24|c.2736-34G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|19/23|c.2553-34G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|20/24|c.2718-34G>A|||||| 22 25301142 . A G . . ANN=G|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|22/26|c.2971A>G|p.Ile991Val|3128/6176|2971/3447|991/1148||,G|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|21/25|c.2806A>G|p.Ile936Val|2963/6011|2806/3282|936/1093||,G|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|20/24|c.2623A>G|p.Ile875Val|2780/5828|2623/3099|875/1032||,G|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|21/25|c.2788A>G|p.Ile930Val|2945/5993|2788/3264|930/1087|| 22 25308602 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|22/25|c.2984-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|21/24|c.2819-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|20/23|c.2636-8T>C||||||,C|splice_region_variant&intron_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|21/24|c.2801-8T>C|||||| 22 25308671 . C T . . ANN=T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|23/26|c.3045C>T|p.His1015His|3202/6176|3045/3447|1015/1148||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|22/25|c.2880C>T|p.His960His|3037/6011|2880/3282|960/1093||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|21/24|c.2697C>T|p.His899His|2854/5828|2697/3099|899/1032||,T|synonymous_variant|LOW|SGSM1|SGSM1|transcript|NM_133454.2|Coding|22/25|c.2862C>T|p.His954His|3019/5993|2862/3264|954/1087|| 22 25315753 . G A . . ANN=A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|24/25|c.3191-40G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|23/24|c.3026-40G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|22/23|c.2843-40G>A||||||,A|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|23/24|c.3008-40G>A|||||| 22 25315760 . A G . . ANN=G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|24/25|c.3191-33A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|23/24|c.3026-33A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|22/23|c.2843-33A>G||||||,G|intron_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|23/24|c.3008-33A>G|||||| 22 25315849 . G A . . ANN=A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|25/26|c.3247G>A|p.Val1083Ile|3404/6176|3247/3447|1083/1148||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|24/25|c.3082G>A|p.Val1028Ile|3239/6011|3082/3282|1028/1093||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|23/24|c.2899G>A|p.Val967Ile|3056/5828|2899/3099|967/1032||,A|missense_variant|MODERATE|SGSM1|SGSM1|transcript|NM_133454.2|Coding|24/25|c.3064G>A|p.Val1022Ile|3221/5993|3064/3264|1022/1087|| 22 25320250 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|26/26|c.*9T>C|||||9|,C|3_prime_UTR_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|25/25|c.*9T>C|||||9|,C|3_prime_UTR_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|24/24|c.*9T>C|||||9|,C|3_prime_UTR_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|25/25|c.*9T>C|||||9| 22 25320256 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001039948.2|Coding|26/26|c.*15C>T|||||15|,T|3_prime_UTR_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098497.1|Coding|25/25|c.*15C>T|||||15|,T|3_prime_UTR_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_001098498.1|Coding|24/24|c.*15C>T|||||15|,T|3_prime_UTR_variant|MODIFIER|SGSM1|SGSM1|transcript|NM_133454.2|Coding|25/25|c.*15C>T|||||15| 22 25331271 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TMEM211|TMEM211|transcript|NM_001001663.1|Coding|3/3|c.*29C>T|||||29| 22 25331451 . C T . . ANN=T|missense_variant|MODERATE|TMEM211|TMEM211|transcript|NM_001001663.1|Coding|3/3|c.239G>A|p.Gly80Asp|264/507|239/390|80/129|| 22 25331492 . G A . . ANN=A|synonymous_variant|LOW|TMEM211|TMEM211|transcript|NM_001001663.1|Coding|3/3|c.198C>T|p.Cys66Cys|223/507|198/390|66/129|| 22 25331546 . C A . . ANN=A|synonymous_variant|LOW|TMEM211|TMEM211|transcript|NM_001001663.1|Coding|3/3|c.144G>T|p.Val48Val|169/507|144/390|48/129|| 22 25334094 . T C . . ANN=C|intron_variant|MODIFIER|TMEM211|TMEM211|transcript|NM_001001663.1|Coding|2/2|c.127+22A>G|||||| 22 25334184 . G T . . ANN=T|missense_variant|MODERATE|TMEM211|TMEM211|transcript|NM_001001663.1|Coding|2/3|c.59C>A|p.Ala20Asp|84/507|59/390|20/129|| 22 25334292 . C G . . ANN=G|intron_variant|MODIFIER|TMEM211|TMEM211|transcript|NM_001001663.1|Coding|1/2|c.-12-38G>C|||||| 22 25597331 . T C . . ANN=C|intron_variant|MODIFIER|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|1/5|c.-20-13T>C|||||| 22 25597369 . G A . . ANN=A|synonymous_variant|LOW|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|2/6|c.6G>A|p.Ala2Ala|86/863|6/636|2/211|| 22 25597384 . A G . . ANN=G|synonymous_variant|LOW|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|2/6|c.21A>G|p.Ala7Ala|101/863|21/636|7/211|| 22 25597401 . C G . . ANN=G|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|2/6|c.38C>G|p.Ala13Gly|118/863|38/636|13/211|| 22 25597456 . G A . . ANN=A|intron_variant|MODIFIER|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|2/5|c.75+18G>A|||||| 22 25597467 . C T . . ANN=T|intron_variant|MODIFIER|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|2/5|c.75+29C>T|||||| 22 25598661 . G T . . ANN=T|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|3/6|c.96G>T|p.Glu32Asp|176/863|96/636|32/211|| 22 25598664 . C T . . ANN=T|synonymous_variant|LOW|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|3/6|c.99C>T|p.Asn33Asn|179/863|99/636|33/211|| 22 25598690 . C T . . ANN=T|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|3/6|c.125C>T|p.Ser42Leu|205/863|125/636|42/211|| 22 25598782 . C T . . ANN=T|intron_variant|MODIFIER|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|3/5|c.194+23C>T|||||| 22 25598790 . C T . . ANN=T|intron_variant|MODIFIER|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|3/5|c.194+31C>T|||||| 22 25599723 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|3/5|c.195-7C>G|||||| 22 25599759 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|4/6|c.224G>A|p.Arg75His|304/863|224/636|75/211|| 22 25599769 . G A . . ANN=A|synonymous_variant|LOW|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|4/6|c.234G>A|p.Gln78Gln|314/863|234/636|78/211|| 22 25599770 . T A . . ANN=A|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|4/6|c.235T>A|p.Phe79Ile|315/863|235/636|79/211|| 22 25599849 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|4/6|c.314G>A|p.Arg105Gln|394/863|314/636|105/211|| 22 25601173 . G A . . ANN=A|intron_variant|MODIFIER|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|4/5|c.328-14G>A|||||| 22 25601196 . C G . . ANN=G|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|5/6|c.337C>G|p.His113Asp|417/863|337/636|113/211|| 22 25601239 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|5/6|c.380G>A|p.Arg127His|460/863|380/636|127/211|| 22 25601251 . T C . . ANN=C|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|5/6|c.392T>C|p.Ile131Thr|472/863|392/636|131/211|| 22 25602990 . A G . . ANN=G|intron_variant|MODIFIER|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|5/5|c.471-24A>G|||||| 22 25603008 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|5/5|c.471-6C>T|||||| 22 25603018 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|6/6|c.475G>A|p.Val159Ile|555/863|475/636|159/211|| 22 25603035 . C A . . ANN=A|synonymous_variant|LOW|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|6/6|c.492C>A|p.Pro164Pro|572/863|492/636|164/211|| 22 25603067 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|6/6|c.524G>A|p.Arg175Gln|604/863|524/636|175/211|| 22 25603095 . G C . . ANN=C|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|6/6|c.552G>C|p.Trp184Cys|632/863|552/636|184/211|| 22 25603110 . G A . . ANN=A|synonymous_variant|LOW|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|6/6|c.567G>A|p.Pro189Pro|647/863|567/636|189/211|| 22 25603127 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|6/6|c.584G>A|p.Arg195His|664/863|584/636|195/211|| 22 25603136 . G A . . ANN=A|missense_variant|MODERATE|CRYBB3|CRYBB3|transcript|NM_004076.4|Coding|6/6|c.593G>A|p.Arg198His|673/863|593/636|198/211|| 22 25617436 . T A . . ANN=A|missense_variant|MODERATE|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|2/6|c.40T>A|p.Ser14Thr|88/763|40/618|14/205|| 22 25617474 . G T . . ANN=T|intron_variant|MODIFIER|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|2/5|c.54+24G>T|||||| 22 25620851 . G A . . ANN=A|intron_variant|MODIFIER|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|2/5|c.55-34G>A|||||| 22 25620853 . G C . . ANN=C|intron_variant|MODIFIER|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|2/5|c.55-32G>C|||||| 22 25623839 . G T . . ANN=T|missense_variant|MODERATE|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|4/6|c.193G>T|p.Ala65Ser|241/763|193/618|65/205|| 22 25623919 . G A . . ANN=A|synonymous_variant|LOW|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|4/6|c.273G>A|p.Thr91Thr|321/763|273/618|91/205|| 22 25627604 . G A . . ANN=A|synonymous_variant|LOW|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|6/6|c.483G>A|p.Gly161Gly|531/763|483/618|161/205|| 22 25627692 . C T . . ANN=T|missense_variant|MODERATE|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|6/6|c.571C>T|p.Arg191Cys|619/763|571/618|191/205|| 22 25627788 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CRYBB2|CRYBB2|transcript|NM_000496.2|Coding|6/6|c.*49G>A|||||49| 22 25747716 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|6/6|c.*50T>C|||||50|,G|3_prime_UTR_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|4/4|c.*50T>C|||||50| 22 25747749 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|6/6|c.*17C>T|||||17|,A|3_prime_UTR_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|4/4|c.*17C>T|||||17| 22 25747750 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|6/6|c.*16G>C|||||16|,G|3_prime_UTR_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|4/4|c.*16G>C|||||16| 22 25747779 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|6/6|c.746C>T|p.Ala249Val|1270/1664|746/759|249/252||,A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|4/4|c.746C>T|p.Ala249Val|3211/3605|746/759|249/252|| 22 25747801 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|6/6|c.724G>A|p.Gly242Ser|1248/1664|724/759|242/252||,T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|4/4|c.724G>A|p.Gly242Ser|3189/3605|724/759|242/252|| 22 25747810 . T A . . ANN=A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|6/6|c.715A>T|p.Thr239Ser|1239/1664|715/759|239/252||,A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|4/4|c.715A>T|p.Thr239Ser|3180/3605|715/759|239/252|| 22 25747853 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|6/6|c.672G>A|p.Ala224Ala|1196/1664|672/759|224/252||,T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|4/4|c.672G>A|p.Ala224Ala|3137/3605|672/759|224/252|| 22 25750534 . C T . . ANN=T|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|5/5|c.655+29G>A||||||,T|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|3/3|c.655+29G>A|||||| 22 25750552 . C A . . ANN=A|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|5/5|c.655+11G>T||||||,A|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|3/3|c.655+11G>T|||||| 22 25750578 . C G . . ANN=G|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|5/6|c.640G>C|p.Val214Leu|1164/1664|640/759|214/252||,G|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|3/4|c.640G>C|p.Val214Leu|3105/3605|640/759|214/252|| 22 25750606 . G A . . ANN=A|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|5/6|c.612C>T|p.Pro204Pro|1136/1664|612/759|204/252||,A|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|3/4|c.612C>T|p.Pro204Pro|3077/3605|612/759|204/252|| 22 25750631 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|5/6|c.587G>A|p.Arg196Gln|1111/1664|587/759|196/252||,T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|3/4|c.587G>A|p.Arg196Gln|3052/3605|587/759|196/252|| 22 25750656 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|5/6|c.562C>T|p.Arg188Trp|1086/1664|562/759|188/252||,A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|3/4|c.562C>T|p.Arg188Trp|3027/3605|562/759|188/252|| 22 25750663 . G A . . ANN=A|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|5/6|c.555C>T|p.Ser185Ser|1079/1664|555/759|185/252||,A|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|3/4|c.555C>T|p.Ser185Ser|3020/3605|555/759|185/252|| 22 25750783 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.439-4G>C||||||,G|splice_region_variant&intron_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.439-4G>C|||||| 22 25750809 . T TGGGCCA . . ANN=TGGGCCA|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.439-31_439-30insTGGCCC||||||,TGGGCCA|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.439-31_439-30insTGGCCC|||||| 22 25750814 . C CAGGGCA . . ANN=CAGGGCA|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.439-36_439-35insTGCCCT||||||,CAGGGCA|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.439-36_439-35insTGCCCT|||||| 22 25750815 . A AGGGCAG . . ANN=AGGGCAG|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.439-37_439-36insCTGCCC||||||,AGGGCAG|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.439-37_439-36insCTGCCC|||||| 22 25750818 . GCCATGC G,GCAAGGCCCATGC . . ANN=G|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.439-45_439-40delGCATGG||||||,GCAAGGCCCATGC|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.439-41_439-40insGGCCTT||||||,G|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.439-45_439-40delGCATGG||||||,GCAAGGCCCATGC|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.439-41_439-40insGGCCTT|||||| 22 25753175 . G A . . ANN=A|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.438+47C>T||||||,A|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.438+47C>T|||||| 22 25753189 . C T . . ANN=T|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.438+33G>A||||||,T|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.438+33G>A|||||| 22 25753213 . G A . . ANN=A|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/5|c.438+9C>T||||||,A|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/3|c.438+9C>T|||||| 22 25753231 . G A . . ANN=A|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/6|c.429C>T|p.Asp143Asp|953/1664|429/759|143/252||,A|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/4|c.429C>T|p.Asp143Asp|2894/3605|429/759|143/252|| 22 25753310 . T C . . ANN=C|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/6|c.350A>G|p.Asn117Ser|874/1664|350/759|117/252||,C|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/4|c.350A>G|p.Asn117Ser|2815/3605|350/759|117/252|| 22 25753339 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/6|c.321G>A|p.Leu107Leu|845/1664|321/759|107/252||,T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/4|c.321G>A|p.Leu107Leu|2786/3605|321/759|107/252|| 22 25753349 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/6|c.311G>A|p.Arg104His|835/1664|311/759|104/252||,T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/4|c.311G>A|p.Arg104His|2776/3605|311/759|104/252|| 22 25753387 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|4/6|c.273G>A|p.Thr91Thr|797/1664|273/759|91/252||,T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|2/4|c.273G>A|p.Thr91Thr|2738/3605|273/759|91/252|| 22 25753397 . GAGA G . . ANN=G|splice_region_variant&intron_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/5|c.267-7_267-5delTCT||||||,G|splice_region_variant&intron_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/3|c.267-7_267-5delTCT|||||| 22 25755760 . GCCTGGC G . . ANN=G|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/5|c.266+28_266+33delGCCAGG||||||,G|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/3|c.266+28_266+33delGCCAGG|||||| 22 25755765 . G A . . ANN=A|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/5|c.266+29C>T||||||,A|intron_variant|MODIFIER|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/3|c.266+29C>T|||||| 22 25755787 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/5|c.266+7C>T||||||,A|splice_region_variant&intron_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/3|c.266+7C>T|||||| 22 25755878 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.182C>T|p.Thr61Met|706/1664|182/759|61/252||,A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.182C>T|p.Thr61Met|2647/3605|182/759|61/252|| 22 25755880 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.180G>A|p.Val60Val|704/1664|180/759|60/252||,T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.180G>A|p.Val60Val|2645/3605|180/759|60/252|| 22 25755885 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.175G>A|p.Glu59Lys|699/1664|175/759|59/252||,T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.175G>A|p.Glu59Lys|2640/3605|175/759|59/252|| 22 25755895 . A G . . ANN=G|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.165T>C|p.Thr55Thr|689/1664|165/759|55/252||,G|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.165T>C|p.Thr55Thr|2630/3605|165/759|55/252|| 22 25755908 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.152C>T|p.Thr51Ile|676/1664|152/759|51/252||,A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.152C>T|p.Thr51Ile|2617/3605|152/759|51/252|| 22 25755914 . T C . . ANN=C|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.146A>G|p.Tyr49Cys|670/1664|146/759|49/252||,C|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.146A>G|p.Tyr49Cys|2611/3605|146/759|49/252|| 22 25755924 . G A . . ANN=A|stop_gained|HIGH|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.136C>T|p.Arg46*|660/1664|136/759|46/252||,A|stop_gained|HIGH|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.136C>T|p.Arg46*|2601/3605|136/759|46/252||;LOF=(LRP5L|LRP5L|2|1.00);NMD=(LRP5L|LRP5L|2|1.00) 22 25755925 . G C . . ANN=C|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.135C>G|p.Ala45Ala|659/1664|135/759|45/252||,C|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.135C>G|p.Ala45Ala|2600/3605|135/759|45/252|| 22 25755942 . C A,G,T . . ANN=A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.118G>T|p.Ala40Ser|642/1664|118/759|40/252||,G|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.118G>C|p.Ala40Pro|642/1664|118/759|40/252||,T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.118G>A|p.Ala40Thr|642/1664|118/759|40/252||,A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.118G>T|p.Ala40Ser|2583/3605|118/759|40/252||,G|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.118G>C|p.Ala40Pro|2583/3605|118/759|40/252||,T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.118G>A|p.Ala40Thr|2583/3605|118/759|40/252|| 22 25755980 . G A . . ANN=A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.80C>T|p.Thr27Met|604/1664|80/759|27/252||,A|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.80C>T|p.Thr27Met|2545/3605|80/759|27/252|| 22 25755984 . G A . . ANN=A|stop_gained|HIGH|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.76C>T|p.Gln26*|600/1664|76/759|26/252||,A|stop_gained|HIGH|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.76C>T|p.Gln26*|2541/3605|76/759|26/252||;LOF=(LRP5L|LRP5L|2|1.00);NMD=(LRP5L|LRP5L|2|1.00) 22 25755987 . C T . . ANN=T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.73G>A|p.Ala25Thr|597/1664|73/759|25/252||,T|missense_variant|MODERATE|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.73G>A|p.Ala25Thr|2538/3605|73/759|25/252|| 22 25756024 . C T . . ANN=T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_001135772.1|Coding|3/6|c.36G>A|p.Val12Val|560/1664|36/759|12/252||,T|synonymous_variant|LOW|LRP5L|LRP5L|transcript|NM_182492.2|Coding|1/4|c.36G>A|p.Val12Val|2501/3605|36/759|12/252|| 22 25961139 . G A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|1/20|c.113+19G>A|||||| 22 26000466 . A C . . ANN=C|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|2/20|c.190+46A>C|||||| 22 26040629 . A G . . ANN=G|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|3/21|c.261A>G|p.Glu87Glu|408/9055|261/2067|87/688|| 22 26057521 . A G . . ANN=G|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|3/20|c.265-22A>G|||||| 22 26059551 . T C . . ANN=C|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|4/20|c.367-46T>C|||||| 22 26059552 . T C . . ANN=C|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|4/20|c.367-45T>C|||||| 22 26059700 . G T . . ANN=T|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|5/20|c.441+29G>T|||||| 22 26063679 . G A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|5/20|c.442-27G>A|||||| 22 26068246 . A T . . ANN=T|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|6/20|c.504-17A>T|||||| 22 26068254 . C A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|6/20|c.504-9C>A|||||| 22 26068297 . G A . . ANN=A|missense_variant|MODERATE|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|7/21|c.538G>A|p.Val180Ile|685/9055|538/2067|180/688|| 22 26070516 . T C . . ANN=C|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|8/20|c.647+21T>C|||||| 22 26074740 . A G . . ANN=G|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|8/20|c.648-43A>G|||||| 22 26074921 . T C . . ANN=C|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|9/20|c.747+39T>C|||||| 22 26081111 . T C . . ANN=C|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|9/20|c.748-26T>C|||||| 22 26083608 . C A . . ANN=A|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|11/21|c.931C>A|p.Arg311Arg|1078/9055|931/2067|311/688|| 22 26083642 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|11/20|c.957+8C>T|||||| 22 26086152 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|11/20|c.958-4T>G|||||| 22 26086262 . G A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|12/20|c.1052+12G>A|||||| 22 26091030 . A T . . ANN=T|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|12/20|c.1053-44A>T|||||| 22 26099429 . A G . . ANN=G|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|13/20|c.1161-48A>G|||||| 22 26099498 . T C . . ANN=C|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|14/21|c.1182T>C|p.His394His|1329/9055|1182/2067|394/688|| 22 26099537 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|14/21|c.1221C>T|p.Leu407Leu|1368/9055|1221/2067|407/688|| 22 26099541 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|14/21|c.1225G>A|p.Val409Met|1372/9055|1225/2067|409/688|| 22 26100037 . A G . . ANN=G|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|14/20|c.1228-39A>G|||||| 22 26100043 . G A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|14/20|c.1228-33G>A|||||| 22 26100063 . G A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|14/20|c.1228-13G>A|||||| 22 26100085 . C T . . ANN=T|missense_variant|MODERATE|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|15/21|c.1237C>T|p.Leu413Phe|1384/9055|1237/2067|413/688|| 22 26100144 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|15/21|c.1296C>T|p.Asp432Asp|1443/9055|1296/2067|432/688|| 22 26100168 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|15/21|c.1320C>T|p.His440His|1467/9055|1320/2067|440/688|| 22 26105847 . T C . . ANN=C|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|15/20|c.1329-18T>C|||||| 22 26105861 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|15/20|c.1329-4C>T|||||| 22 26105968 . C T . . ANN=T|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|16/20|c.1395+37C>T|||||| 22 26105974 . G A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|16/20|c.1395+43G>A|||||| 22 26106994 . G A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|16/20|c.1396-41G>A|||||| 22 26110530 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|18/21|c.1647C>T|p.His549His|1794/9055|1647/2067|549/688|| 22 26114187 . C T . . ANN=T|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|18/20|c.1655-25C>T|||||| 22 26114191 . T C . . ANN=C|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|18/20|c.1655-21T>C|||||| 22 26114216 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|19/21|c.1659C>T|p.Tyr553Tyr|1806/9055|1659/2067|553/688|| 22 26114243 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|19/21|c.1686C>T|p.His562His|1833/9055|1686/2067|562/688|| 22 26114389 . G A . . ANN=A|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|19/20|c.1791+41G>A|||||| 22 26117202 . A G . . ANN=G|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|19/20|c.1792-49A>G|||||| 22 26117229 . A G . . ANN=G|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|19/20|c.1792-22A>G|||||| 22 26117343 . A G . . ANN=G|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|20/21|c.1884A>G|p.Lys628Lys|2031/9055|1884/2067|628/688|| 22 26118231 . C T . . ANN=T|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|20/20|c.1906-25C>T|||||| 22 26118244 . A G . . ANN=G|intron_variant|MODIFIER|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|20/20|c.1906-12A>G|||||| 22 26118294 . C T . . ANN=T|synonymous_variant|LOW|ADRBK2|ADRBK2|transcript|NM_005160.3|Coding|21/21|c.1944C>T|p.Asn648Asn|2091/9055|1944/2067|648/688|| 22 26565698 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|1/17|c.63C>T|p.Leu21Leu|259/6573|63/3075|21/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|1/17|c.63C>T|p.Leu21Leu|259/6570|63/3072|21/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|1/16|c.63C>T|p.Leu21Leu|259/6540|63/3042|21/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|1/16|c.63C>T|p.Leu21Leu|259/6534|63/3036|21/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|1/15|c.63C>T|p.Leu21Leu|259/6348|63/2850|21/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|1/15|c.63C>T|p.Leu21Leu|259/6345|63/2847|21/948|| 22 26688357 . T C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|1/16|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|1/16|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|1/15|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|1/15|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|1/14|c.95-15T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|1/14|c.95-15T>C|||||| 22 26688377 . C T . . ANN=T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.100C>T|p.Leu34Phe|296/6573|100/3075|34/1024||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.100C>T|p.Leu34Phe|296/6570|100/3072|34/1023||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.100C>T|p.Leu34Phe|296/6540|100/3042|34/1013||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.100C>T|p.Leu34Phe|296/6534|100/3036|34/1011||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.100C>T|p.Leu34Phe|296/6348|100/2850|34/949||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.100C>T|p.Leu34Phe|296/6345|100/2847|34/948|| 22 26688378 . T C . . ANN=C|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.101T>C|p.Leu34Pro|297/6573|101/3075|34/1024||,C|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.101T>C|p.Leu34Pro|297/6570|101/3072|34/1023||,C|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.101T>C|p.Leu34Pro|297/6540|101/3042|34/1013||,C|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.101T>C|p.Leu34Pro|297/6534|101/3036|34/1011||,C|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.101T>C|p.Leu34Pro|297/6348|101/2850|34/949||,C|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.101T>C|p.Leu34Pro|297/6345|101/2847|34/948|| 22 26688388 . A C . . ANN=C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.111A>C|p.Gly37Gly|307/6573|111/3075|37/1024||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.111A>C|p.Gly37Gly|307/6570|111/3072|37/1023||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.111A>C|p.Gly37Gly|307/6540|111/3042|37/1013||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.111A>C|p.Gly37Gly|307/6534|111/3036|37/1011||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.111A>C|p.Gly37Gly|307/6348|111/2850|37/949||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.111A>C|p.Gly37Gly|307/6345|111/2847|37/948|| 22 26688401 . T C . . ANN=C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.124T>C|p.Leu42Leu|320/6573|124/3075|42/1024||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.124T>C|p.Leu42Leu|320/6570|124/3072|42/1023||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.124T>C|p.Leu42Leu|320/6540|124/3042|42/1013||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.124T>C|p.Leu42Leu|320/6534|124/3036|42/1011||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.124T>C|p.Leu42Leu|320/6348|124/2850|42/949||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.124T>C|p.Leu42Leu|320/6345|124/2847|42/948|| 22 26688413 . C G . . ANN=G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.136C>G|p.Leu46Val|332/6573|136/3075|46/1024||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.136C>G|p.Leu46Val|332/6570|136/3072|46/1023||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.136C>G|p.Leu46Val|332/6540|136/3042|46/1013||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.136C>G|p.Leu46Val|332/6534|136/3036|46/1011||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.136C>G|p.Leu46Val|332/6348|136/2850|46/949||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.136C>G|p.Leu46Val|332/6345|136/2847|46/948|| 22 26688580 . G T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.303G>T|p.Pro101Pro|499/6573|303/3075|101/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.303G>T|p.Pro101Pro|499/6570|303/3072|101/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.303G>T|p.Pro101Pro|499/6540|303/3042|101/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.303G>T|p.Pro101Pro|499/6534|303/3036|101/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.303G>T|p.Pro101Pro|499/6348|303/2850|101/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.303G>T|p.Pro101Pro|499/6345|303/2847|101/948|| 22 26688621 . C G . . ANN=G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.344C>G|p.Pro115Arg|540/6573|344/3075|115/1024||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.344C>G|p.Pro115Arg|540/6570|344/3072|115/1023||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.344C>G|p.Pro115Arg|540/6540|344/3042|115/1013||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.344C>G|p.Pro115Arg|540/6534|344/3036|115/1011||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.344C>G|p.Pro115Arg|540/6348|344/2850|115/949||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.344C>G|p.Pro115Arg|540/6345|344/2847|115/948|| 22 26688727 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.450G>A|p.Ala150Ala|646/6573|450/3075|150/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.450G>A|p.Ala150Ala|646/6570|450/3072|150/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.450G>A|p.Ala150Ala|646/6540|450/3042|150/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.450G>A|p.Ala150Ala|646/6534|450/3036|150/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.450G>A|p.Ala150Ala|646/6348|450/2850|150/949||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.450G>A|p.Ala150Ala|646/6345|450/2847|150/948|| 22 26688777 . C T . . ANN=T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.500C>T|p.Pro167Leu|696/6573|500/3075|167/1024||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.500C>T|p.Pro167Leu|696/6570|500/3072|167/1023||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.500C>T|p.Pro167Leu|696/6540|500/3042|167/1013||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.500C>T|p.Pro167Leu|696/6534|500/3036|167/1011||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.500C>T|p.Pro167Leu|696/6348|500/2850|167/949||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.500C>T|p.Pro167Leu|696/6345|500/2847|167/948|| 22 26688778 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.501G>A|p.Pro167Pro|697/6573|501/3075|167/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.501G>A|p.Pro167Pro|697/6570|501/3072|167/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.501G>A|p.Pro167Pro|697/6540|501/3042|167/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.501G>A|p.Pro167Pro|697/6534|501/3036|167/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.501G>A|p.Pro167Pro|697/6348|501/2850|167/949||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.501G>A|p.Pro167Pro|697/6345|501/2847|167/948|| 22 26688797 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.520G>A|p.Val174Met|716/6573|520/3075|174/1024||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.520G>A|p.Val174Met|716/6570|520/3072|174/1023||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.520G>A|p.Val174Met|716/6540|520/3042|174/1013||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.520G>A|p.Val174Met|716/6534|520/3036|174/1011||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.520G>A|p.Val174Met|716/6348|520/2850|174/949||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.520G>A|p.Val174Met|716/6345|520/2847|174/948|| 22 26688831 . G T . . ANN=T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.554G>T|p.Trp185Leu|750/6573|554/3075|185/1024||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.554G>T|p.Trp185Leu|750/6570|554/3072|185/1023||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.554G>T|p.Trp185Leu|750/6540|554/3042|185/1013||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.554G>T|p.Trp185Leu|750/6534|554/3036|185/1011||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.554G>T|p.Trp185Leu|750/6348|554/2850|185/949||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.554G>T|p.Trp185Leu|750/6345|554/2847|185/948|| 22 26688838 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.561C>T|p.Asp187Asp|757/6573|561/3075|187/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.561C>T|p.Asp187Asp|757/6570|561/3072|187/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.561C>T|p.Asp187Asp|757/6540|561/3042|187/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.561C>T|p.Asp187Asp|757/6534|561/3036|187/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.561C>T|p.Asp187Asp|757/6348|561/2850|187/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.561C>T|p.Asp187Asp|757/6345|561/2847|187/948|| 22 26688840 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.563G>A|p.Arg188Gln|759/6573|563/3075|188/1024||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.563G>A|p.Arg188Gln|759/6570|563/3072|188/1023||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.563G>A|p.Arg188Gln|759/6540|563/3042|188/1013||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.563G>A|p.Arg188Gln|759/6534|563/3036|188/1011||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.563G>A|p.Arg188Gln|759/6348|563/2850|188/949||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.563G>A|p.Arg188Gln|759/6345|563/2847|188/948|| 22 26688940 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.663C>T|p.Pro221Pro|859/6573|663/3075|221/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.663C>T|p.Pro221Pro|859/6570|663/3072|221/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.663C>T|p.Pro221Pro|859/6540|663/3042|221/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.663C>T|p.Pro221Pro|859/6534|663/3036|221/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.663C>T|p.Pro221Pro|859/6348|663/2850|221/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.663C>T|p.Pro221Pro|859/6345|663/2847|221/948|| 22 26689053 . A G . . ANN=G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.776A>G|p.Gln259Arg|972/6573|776/3075|259/1024||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.776A>G|p.Gln259Arg|972/6570|776/3072|259/1023||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.776A>G|p.Gln259Arg|972/6540|776/3042|259/1013||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.776A>G|p.Gln259Arg|972/6534|776/3036|259/1011||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.776A>G|p.Gln259Arg|972/6348|776/2850|259/949||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.776A>G|p.Gln259Arg|972/6345|776/2847|259/948|| 22 26689105 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|2/17|c.828G>A|p.Gln276Gln|1024/6573|828/3075|276/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|2/17|c.828G>A|p.Gln276Gln|1024/6570|828/3072|276/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|2/16|c.828G>A|p.Gln276Gln|1024/6540|828/3042|276/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|2/16|c.828G>A|p.Gln276Gln|1024/6534|828/3036|276/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|2/15|c.828G>A|p.Gln276Gln|1024/6348|828/2850|276/949||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|2/15|c.828G>A|p.Gln276Gln|1024/6345|828/2847|276/948|| 22 26690407 . T C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|3/16|c.969+16T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|3/16|c.969+16T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|3/15|c.969+16T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|3/15|c.969+16T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|3/14|c.969+16T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|3/14|c.969+16T>C|||||| 22 26690427 . G C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|3/16|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|3/16|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|3/15|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|3/15|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|3/14|c.969+36G>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|3/14|c.969+36G>C|||||| 22 26690435 . G T . . ANN=T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|3/16|c.969+44G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|3/16|c.969+44G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|3/15|c.969+44G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|3/15|c.969+44G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|3/14|c.969+44G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|3/14|c.969+44G>T|||||| 22 26692913 . T C . . ANN=C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|4/17|c.1029T>C|p.Pro343Pro|1225/6573|1029/3075|343/1024||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|4/17|c.1029T>C|p.Pro343Pro|1225/6570|1029/3072|343/1023||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|4/16|c.1029T>C|p.Pro343Pro|1225/6540|1029/3042|343/1013||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|4/16|c.1029T>C|p.Pro343Pro|1225/6534|1029/3036|343/1011||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|4/15|c.1029T>C|p.Pro343Pro|1225/6348|1029/2850|343/949||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|4/15|c.1029T>C|p.Pro343Pro|1225/6345|1029/2847|343/948|| 22 26692922 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|4/17|c.1038C>T|p.Thr346Thr|1234/6573|1038/3075|346/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|4/17|c.1038C>T|p.Thr346Thr|1234/6570|1038/3072|346/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|4/16|c.1038C>T|p.Thr346Thr|1234/6540|1038/3042|346/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|4/16|c.1038C>T|p.Thr346Thr|1234/6534|1038/3036|346/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|4/15|c.1038C>T|p.Thr346Thr|1234/6348|1038/2850|346/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|4/15|c.1038C>T|p.Thr346Thr|1234/6345|1038/2847|346/948|| 22 26692955 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|4/17|c.1071G>A|p.Gly357Gly|1267/6573|1071/3075|357/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|4/17|c.1071G>A|p.Gly357Gly|1267/6570|1071/3072|357/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|4/16|c.1071G>A|p.Gly357Gly|1267/6540|1071/3042|357/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|4/16|c.1071G>A|p.Gly357Gly|1267/6534|1071/3036|357/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|4/15|c.1071G>A|p.Gly357Gly|1267/6348|1071/2850|357/949||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|4/15|c.1071G>A|p.Gly357Gly|1267/6345|1071/2847|357/948|| 22 26693079 . C T . . ANN=T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|4/16|c.1162+33C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|4/16|c.1162+33C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|4/15|c.1162+33C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|4/15|c.1162+33C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|4/14|c.1162+33C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|4/14|c.1162+33C>T|||||| 22 26694919 . T C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|4/16|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|4/16|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|4/15|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|4/15|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|4/14|c.1163-31T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|4/14|c.1163-31T>C|||||| 22 26695053 . C A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|5/17|c.1266C>A|p.Gly422Gly|1462/6573|1266/3075|422/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|5/17|c.1266C>A|p.Gly422Gly|1462/6570|1266/3072|422/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|5/16|c.1266C>A|p.Gly422Gly|1462/6540|1266/3042|422/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|5/16|c.1266C>A|p.Gly422Gly|1462/6534|1266/3036|422/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|5/15|c.1266C>A|p.Gly422Gly|1462/6348|1266/2850|422/949||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|5/15|c.1266C>A|p.Gly422Gly|1462/6345|1266/2847|422/948|| 22 26695077 . G T . . ANN=T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|5/17|c.1290G>T|p.Met430Ile|1486/6573|1290/3075|430/1024||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|5/17|c.1290G>T|p.Met430Ile|1486/6570|1290/3072|430/1023||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|5/16|c.1290G>T|p.Met430Ile|1486/6540|1290/3042|430/1013||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|5/16|c.1290G>T|p.Met430Ile|1486/6534|1290/3036|430/1011||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|5/15|c.1290G>T|p.Met430Ile|1486/6348|1290/2850|430/949||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|5/15|c.1290G>T|p.Met430Ile|1486/6345|1290/2847|430/948|| 22 26695104 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|5/17|c.1317G>A|p.Pro439Pro|1513/6573|1317/3075|439/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|5/17|c.1317G>A|p.Pro439Pro|1513/6570|1317/3072|439/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|5/16|c.1317G>A|p.Pro439Pro|1513/6540|1317/3042|439/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|5/16|c.1317G>A|p.Pro439Pro|1513/6534|1317/3036|439/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|5/15|c.1317G>A|p.Pro439Pro|1513/6348|1317/2850|439/949||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|5/15|c.1317G>A|p.Pro439Pro|1513/6345|1317/2847|439/948|| 22 26701907 . G A . . ANN=A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|5/16|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|5/16|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|5/15|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|5/15|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|5/14|c.1349-38G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|5/14|c.1349-38G>A|||||| 22 26701917 . A G . . ANN=G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|5/16|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|5/16|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|5/15|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|5/15|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|5/14|c.1349-28A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|5/14|c.1349-28A>G|||||| 22 26701928 . AC A . . ANN=A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|5/16|c.1349-16delC||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|5/16|c.1349-16delC||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|5/15|c.1349-16delC||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|5/15|c.1349-16delC||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|5/14|c.1349-16delC||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|5/14|c.1349-16delC|||||| 22 26701977 . A G . . ANN=G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|6/17|c.1381A>G|p.Ile461Val|1577/6573|1381/3075|461/1024||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|6/17|c.1381A>G|p.Ile461Val|1577/6570|1381/3072|461/1023||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|6/16|c.1381A>G|p.Ile461Val|1577/6540|1381/3042|461/1013||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|6/16|c.1381A>G|p.Ile461Val|1577/6534|1381/3036|461/1011||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|6/15|c.1381A>G|p.Ile461Val|1577/6348|1381/2850|461/949||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|6/15|c.1381A>G|p.Ile461Val|1577/6345|1381/2847|461/948|| 22 26701988 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|6/17|c.1392C>T|p.Val464Val|1588/6573|1392/3075|464/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|6/17|c.1392C>T|p.Val464Val|1588/6570|1392/3072|464/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|6/16|c.1392C>T|p.Val464Val|1588/6540|1392/3042|464/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|6/16|c.1392C>T|p.Val464Val|1588/6534|1392/3036|464/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|6/15|c.1392C>T|p.Val464Val|1588/6348|1392/2850|464/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|6/15|c.1392C>T|p.Val464Val|1588/6345|1392/2847|464/948|| 22 26702015 . A C . . ANN=C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|6/17|c.1419A>C|p.Thr473Thr|1615/6573|1419/3075|473/1024||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|6/17|c.1419A>C|p.Thr473Thr|1615/6570|1419/3072|473/1023||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|6/16|c.1419A>C|p.Thr473Thr|1615/6540|1419/3042|473/1013||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|6/16|c.1419A>C|p.Thr473Thr|1615/6534|1419/3036|473/1011||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|6/15|c.1419A>C|p.Thr473Thr|1615/6348|1419/2850|473/949||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|6/15|c.1419A>C|p.Thr473Thr|1615/6345|1419/2847|473/948|| 22 26702041 . C T . . ANN=T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|6/17|c.1445C>T|p.Thr482Met|1641/6573|1445/3075|482/1024||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|6/17|c.1445C>T|p.Thr482Met|1641/6570|1445/3072|482/1023||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|6/16|c.1445C>T|p.Thr482Met|1641/6540|1445/3042|482/1013||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|6/16|c.1445C>T|p.Thr482Met|1641/6534|1445/3036|482/1011||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|6/15|c.1445C>T|p.Thr482Met|1641/6348|1445/2850|482/949||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|6/15|c.1445C>T|p.Thr482Met|1641/6345|1445/2847|482/948|| 22 26706696 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/17|c.1575C>T|p.Thr525Thr|1771/6573|1575/3075|525/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/17|c.1575C>T|p.Thr525Thr|1771/6570|1575/3072|525/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/16|c.1575C>T|p.Thr525Thr|1771/6540|1575/3042|525/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/16|c.1575C>T|p.Thr525Thr|1771/6534|1575/3036|525/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/15|c.1575C>T|p.Thr525Thr|1771/6348|1575/2850|525/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/15|c.1575C>T|p.Thr525Thr|1771/6345|1575/2847|525/948|| 22 26706697 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/17|c.1576G>A|p.Glu526Lys|1772/6573|1576/3075|526/1024||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/17|c.1576G>A|p.Glu526Lys|1772/6570|1576/3072|526/1023||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/16|c.1576G>A|p.Glu526Lys|1772/6540|1576/3042|526/1013||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/16|c.1576G>A|p.Glu526Lys|1772/6534|1576/3036|526/1011||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/15|c.1576G>A|p.Glu526Lys|1772/6348|1576/2850|526/949||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/15|c.1576G>A|p.Glu526Lys|1772/6345|1576/2847|526/948|| 22 26706743 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/17|c.1622G>A|p.Arg541His|1818/6573|1622/3075|541/1024||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/17|c.1622G>A|p.Arg541His|1818/6570|1622/3072|541/1023||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/16|c.1622G>A|p.Arg541His|1818/6540|1622/3042|541/1013||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/16|c.1622G>A|p.Arg541His|1818/6534|1622/3036|541/1011||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/15|c.1622G>A|p.Arg541His|1818/6348|1622/2850|541/949||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/15|c.1622G>A|p.Arg541His|1818/6345|1622/2847|541/948|| 22 26706747 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/17|c.1626C>T|p.Ile542Ile|1822/6573|1626/3075|542/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/17|c.1626C>T|p.Ile542Ile|1822/6570|1626/3072|542/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/16|c.1626C>T|p.Ile542Ile|1822/6540|1626/3042|542/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/16|c.1626C>T|p.Ile542Ile|1822/6534|1626/3036|542/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/15|c.1626C>T|p.Ile542Ile|1822/6348|1626/2850|542/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/15|c.1626C>T|p.Ile542Ile|1822/6345|1626/2847|542/948|| 22 26706755 . C T . . ANN=T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/17|c.1634C>T|p.Thr545Met|1830/6573|1634/3075|545/1024||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/17|c.1634C>T|p.Thr545Met|1830/6570|1634/3072|545/1023||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/16|c.1634C>T|p.Thr545Met|1830/6540|1634/3042|545/1013||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/16|c.1634C>T|p.Thr545Met|1830/6534|1634/3036|545/1011||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/15|c.1634C>T|p.Thr545Met|1830/6348|1634/2850|545/949||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/15|c.1634C>T|p.Thr545Met|1830/6345|1634/2847|545/948|| 22 26706780 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/17|c.1659C>T|p.Ser553Ser|1855/6573|1659/3075|553/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/17|c.1659C>T|p.Ser553Ser|1855/6570|1659/3072|553/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/16|c.1659C>T|p.Ser553Ser|1855/6540|1659/3042|553/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/16|c.1659C>T|p.Ser553Ser|1855/6534|1659/3036|553/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/15|c.1659C>T|p.Ser553Ser|1855/6348|1659/2850|553/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/15|c.1659C>T|p.Ser553Ser|1855/6345|1659/2847|553/948|| 22 26706824 . C T . . ANN=T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/16|c.1681+22C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/16|c.1681+22C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/15|c.1681+22C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/15|c.1681+22C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/14|c.1681+22C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/14|c.1681+22C>T|||||| 22 26706826 . T C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/16|c.1681+24T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/16|c.1681+24T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/15|c.1681+24T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/15|c.1681+24T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/14|c.1681+24T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/14|c.1681+24T>C|||||| 22 26707702 . T C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|7/16|c.1682-32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|7/16|c.1682-32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|7/15|c.1682-32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|7/15|c.1682-32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|7/14|c.1682-32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|7/14|c.1682-32T>C|||||| 22 26707735 . G T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|8/17|c.1683G>T|p.Ala561Ala|1879/6573|1683/3075|561/1024||,T|splice_region_variant&synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|8/17|c.1683G>T|p.Ala561Ala|1879/6570|1683/3072|561/1023||,T|splice_region_variant&synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|8/16|c.1683G>T|p.Ala561Ala|1879/6540|1683/3042|561/1013||,T|splice_region_variant&synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|8/16|c.1683G>T|p.Ala561Ala|1879/6534|1683/3036|561/1011||,T|splice_region_variant&synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|8/15|c.1683G>T|p.Ala561Ala|1879/6348|1683/2850|561/949||,T|splice_region_variant&synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|8/15|c.1683G>T|p.Ala561Ala|1879/6345|1683/2847|561/948|| 22 26707892 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|8/17|c.1840G>A|p.Asp614Asn|2036/6573|1840/3075|614/1024||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|8/17|c.1840G>A|p.Asp614Asn|2036/6570|1840/3072|614/1023||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|8/16|c.1840G>A|p.Asp614Asn|2036/6540|1840/3042|614/1013||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|8/16|c.1840G>A|p.Asp614Asn|2036/6534|1840/3036|614/1011||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|8/15|c.1840G>A|p.Asp614Asn|2036/6348|1840/2850|614/949||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|8/15|c.1840G>A|p.Asp614Asn|2036/6345|1840/2847|614/948|| 22 26709694 . A G . . ANN=G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|8/16|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|8/16|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|8/15|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|8/15|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|8/14|c.1877-36A>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|8/14|c.1877-36A>G|||||| 22 26709720 . T C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|8/16|c.1877-10T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|8/16|c.1877-10T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|8/15|c.1877-10T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|8/15|c.1877-10T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|8/14|c.1877-10T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|8/14|c.1877-10T>C|||||| 22 26709797 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|9/17|c.1944C>T|p.Tyr648Tyr|2140/6573|1944/3075|648/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|9/17|c.1944C>T|p.Tyr648Tyr|2140/6570|1944/3072|648/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|9/16|c.1944C>T|p.Tyr648Tyr|2140/6540|1944/3042|648/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|9/16|c.1944C>T|p.Tyr648Tyr|2140/6534|1944/3036|648/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|9/15|c.1944C>T|p.Tyr648Tyr|2140/6348|1944/2850|648/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|9/15|c.1944C>T|p.Tyr648Tyr|2140/6345|1944/2847|648/948|| 22 26709895 . TAATTTGGCA T . . ANN=T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|9/16|c.2015+28_2015+36delAATTTGGCA||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|9/16|c.2015+28_2015+36delAATTTGGCA||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|9/15|c.2015+28_2015+36delAATTTGGCA||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|9/15|c.2015+28_2015+36delAATTTGGCA||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|9/14|c.2015+28_2015+36delAATTTGGCA||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|9/14|c.2015+28_2015+36delAATTTGGCA|||||| 22 26736393 . C A . . ANN=A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|9/16|c.2016-9C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|9/16|c.2016-9C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|9/15|c.2016-9C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|9/15|c.2016-9C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|9/14|c.2016-9C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|9/14|c.2016-9C>A|||||| 22 26736445 . G A . . ANN=A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|10/17|c.2059G>A|p.Asp687Asn|2255/6573|2059/3075|687/1024||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|10/17|c.2059G>A|p.Asp687Asn|2255/6570|2059/3072|687/1023||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|10/16|c.2059G>A|p.Asp687Asn|2255/6540|2059/3042|687/1013||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|10/16|c.2059G>A|p.Asp687Asn|2255/6534|2059/3036|687/1011||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|10/15|c.2059G>A|p.Asp687Asn|2255/6348|2059/2850|687/949||,A|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|10/15|c.2059G>A|p.Asp687Asn|2255/6345|2059/2847|687/948|| 22 26736617 . C T . . ANN=T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|10/16|c.2212+19C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|10/16|c.2212+19C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|10/15|c.2212+19C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|10/15|c.2212+19C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|10/14|c.2212+19C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|10/14|c.2212+19C>T|||||| 22 26743636 . G A . . ANN=A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|10/16|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|10/16|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|10/15|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|10/15|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|10/14|c.2213-49G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|10/14|c.2213-49G>A|||||| 22 26743689 . A G . . ANN=G|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|11/17|c.2217A>G|p.Val739Val|2413/6573|2217/3075|739/1024||,G|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|11/17|c.2217A>G|p.Val739Val|2413/6570|2217/3072|739/1023||,G|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|11/16|c.2217A>G|p.Val739Val|2413/6540|2217/3042|739/1013||,G|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|11/16|c.2217A>G|p.Val739Val|2413/6534|2217/3036|739/1011||,G|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/15|c.2217A>G|p.Val739Val|2413/6348|2217/2850|739/949||,G|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|11/15|c.2217A>G|p.Val739Val|2413/6345|2217/2847|739/948|| 22 26743751 . A T . . ANN=T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|11/17|c.2279A>T|p.His760Leu|2475/6573|2279/3075|760/1024||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|11/17|c.2279A>T|p.His760Leu|2475/6570|2279/3072|760/1023||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|11/16|c.2279A>T|p.His760Leu|2475/6540|2279/3042|760/1013||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|11/16|c.2279A>T|p.His760Leu|2475/6534|2279/3036|760/1011||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/15|c.2279A>T|p.His760Leu|2475/6348|2279/2850|760/949||,T|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|11/15|c.2279A>T|p.His760Leu|2475/6345|2279/2847|760/948|| 22 26743797 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|11/17|c.2325C>T|p.Pro775Pro|2521/6573|2325/3075|775/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|11/17|c.2325C>T|p.Pro775Pro|2521/6570|2325/3072|775/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|11/16|c.2325C>T|p.Pro775Pro|2521/6540|2325/3042|775/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|11/16|c.2325C>T|p.Pro775Pro|2521/6534|2325/3036|775/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/15|c.2325C>T|p.Pro775Pro|2521/6348|2325/2850|775/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|11/15|c.2325C>T|p.Pro775Pro|2521/6345|2325/2847|775/948|| 22 26743809 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|11/17|c.2337C>T|p.Ile779Ile|2533/6573|2337/3075|779/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|11/17|c.2337C>T|p.Ile779Ile|2533/6570|2337/3072|779/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|11/16|c.2337C>T|p.Ile779Ile|2533/6540|2337/3042|779/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|11/16|c.2337C>T|p.Ile779Ile|2533/6534|2337/3036|779/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/15|c.2337C>T|p.Ile779Ile|2533/6348|2337/2850|779/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|11/15|c.2337C>T|p.Ile779Ile|2533/6345|2337/2847|779/948|| 22 26743866 . A T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|11/17|c.2394A>T|p.Pro798Pro|2590/6573|2394/3075|798/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|11/17|c.2394A>T|p.Pro798Pro|2590/6570|2394/3072|798/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|11/16|c.2394A>T|p.Pro798Pro|2590/6540|2394/3042|798/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|11/16|c.2394A>T|p.Pro798Pro|2590/6534|2394/3036|798/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/15|c.2394A>T|p.Pro798Pro|2590/6348|2394/2850|798/949||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|11/15|c.2394A>T|p.Pro798Pro|2590/6345|2394/2847|798/948|| 22 26743875 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|11/17|c.2403G>A|p.Glu801Glu|2599/6573|2403/3075|801/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|11/17|c.2403G>A|p.Glu801Glu|2599/6570|2403/3072|801/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|11/16|c.2403G>A|p.Glu801Glu|2599/6540|2403/3042|801/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|11/16|c.2403G>A|p.Glu801Glu|2599/6534|2403/3036|801/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/15|c.2403G>A|p.Glu801Glu|2599/6348|2403/2850|801/949||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|11/15|c.2403G>A|p.Glu801Glu|2599/6345|2403/2847|801/948|| 22 26747085 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|12/17|c.2475G>A|p.Leu825Leu|2671/6573|2475/3075|825/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|12/17|c.2475G>A|p.Leu825Leu|2671/6570|2475/3072|825/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|12/16|c.2475G>A|p.Leu825Leu|2671/6540|2475/3042|825/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|12/16|c.2475G>A|p.Leu825Leu|2671/6534|2475/3036|825/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/15|c.2475G>A|p.Leu825Leu|2671/6345|2475/2847|825/948||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/14|c.2407+3206G>A|||||| 22 26747216 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|12/16|c.2599+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|12/16|c.2599+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|12/15|c.2599+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|12/15|c.2599+7C>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/14|c.2599+7C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/14|c.2407+3337C>A|||||| 22 26747241 . T C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|12/16|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|12/16|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|12/15|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|12/15|c.2599+32T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|11/14|c.2407+3362T>C||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/14|c.2599+32T>C|||||| 22 26761396 . G C . . ANN=C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|13/17|c.2658G>C|p.Leu886Leu|2854/6573|2658/3075|886/1024||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|13/17|c.2658G>C|p.Leu886Leu|2854/6570|2658/3072|886/1023||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|13/16|c.2658G>C|p.Leu886Leu|2854/6540|2658/3042|886/1013||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|13/16|c.2658G>C|p.Leu886Leu|2854/6534|2658/3036|886/1011||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|12/15|c.2466G>C|p.Leu822Leu|2662/6348|2466/2850|822/949||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/14|c.2600-10145G>C|||||| 22 26761444 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|13/17|c.2706C>T|p.Tyr902Tyr|2902/6573|2706/3075|902/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|13/17|c.2706C>T|p.Tyr902Tyr|2902/6570|2706/3072|902/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|13/16|c.2706C>T|p.Tyr902Tyr|2902/6540|2706/3042|902/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|13/16|c.2706C>T|p.Tyr902Tyr|2902/6534|2706/3036|902/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|12/15|c.2514C>T|p.Tyr838Tyr|2710/6348|2514/2850|838/949||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/14|c.2600-10097C>T|||||| 22 26761474 . C T . . ANN=T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|13/17|c.2736C>T|p.Thr912Thr|2932/6573|2736/3075|912/1024||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|13/17|c.2736C>T|p.Thr912Thr|2932/6570|2736/3072|912/1023||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|13/16|c.2736C>T|p.Thr912Thr|2932/6540|2736/3042|912/1013||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|13/16|c.2736C>T|p.Thr912Thr|2932/6534|2736/3036|912/1011||,T|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|12/15|c.2544C>T|p.Thr848Thr|2740/6348|2544/2850|848/949||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/14|c.2600-10067C>T|||||| 22 26761572 . G T . . ANN=T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|13/16|c.2794+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|13/16|c.2794+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|13/15|c.2794+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|13/15|c.2794+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|12/14|c.2602+40G>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/14|c.2600-9969G>T|||||| 22 26769463 . CG C . . ANN=C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|14/16|c.2827+15delG||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|14/16|c.2827+15delG||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|13/15|c.2795-2077delG||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|13/15|c.2795-2083delG||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|12/14|c.2603-2077delG||||||,C|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/14|c.2600-2077delG|||||| 22 26771504 . C G . . ANN=G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|14/16|c.2828-37C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|14/16|c.2828-40C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|13/15|c.2795-37C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|13/15|c.2795-43C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|12/14|c.2603-37C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|12/14|c.2600-37C>G|||||| 22 26771563 . G A . . ANN=A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|15/17|c.2850G>A|p.Thr950Thr|3046/6573|2850/3075|950/1024||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|15/17|c.2847G>A|p.Thr949Thr|3043/6570|2847/3072|949/1023||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|14/16|c.2817G>A|p.Thr939Thr|3013/6540|2817/3042|939/1013||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|14/16|c.2811G>A|p.Thr937Thr|3007/6534|2811/3036|937/1011||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|13/15|c.2625G>A|p.Thr875Thr|2821/6348|2625/2850|875/949||,A|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|13/15|c.2622G>A|p.Thr874Thr|2818/6345|2622/2847|874/948|| 22 26771580 . A G . . ANN=G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|15/17|c.2867A>G|p.Asn956Ser|3063/6573|2867/3075|956/1024||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|15/17|c.2864A>G|p.Asn955Ser|3060/6570|2864/3072|955/1023||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|14/16|c.2834A>G|p.Asn945Ser|3030/6540|2834/3042|945/1013||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|14/16|c.2828A>G|p.Asn943Ser|3024/6534|2828/3036|943/1011||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|13/15|c.2642A>G|p.Asn881Ser|2838/6348|2642/2850|881/949||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|13/15|c.2639A>G|p.Asn880Ser|2835/6345|2639/2847|880/948|| 22 26771672 . G A . . ANN=A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|15/16|c.2942+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|15/16|c.2939+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|14/15|c.2909+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|14/15|c.2903+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|13/14|c.2717+17G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|13/14|c.2714+17G>A|||||| 22 26771682 . G A . . ANN=A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|15/16|c.2942+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|15/16|c.2939+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|14/15|c.2909+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|14/15|c.2903+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|13/14|c.2717+27G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|13/14|c.2714+27G>A|||||| 22 26773724 . C G . . ANN=G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|16/17|c.3028C>G|p.Pro1010Ala|3224/6573|3028/3075|1010/1024||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|16/17|c.3025C>G|p.Pro1009Ala|3221/6570|3025/3072|1009/1023||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|15/16|c.2995C>G|p.Pro999Ala|3191/6540|2995/3042|999/1013||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|15/16|c.2989C>G|p.Pro997Ala|3185/6534|2989/3036|997/1011||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|14/15|c.2803C>G|p.Pro935Ala|2999/6348|2803/2850|935/949||,G|missense_variant|MODERATE|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|14/15|c.2800C>G|p.Pro934Ala|2996/6345|2800/2847|934/948|| 22 26773758 . C A . . ANN=A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|16/16|c.3045+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|16/16|c.3042+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|15/15|c.3012+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|15/15|c.3006+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|14/14|c.2820+17C>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|14/14|c.2817+17C>A|||||| 22 26773759 . G A . . ANN=A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|16/16|c.3045+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|16/16|c.3042+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|15/15|c.3012+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|15/15|c.3006+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|14/14|c.2820+18G>A||||||,A|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|14/14|c.2817+18G>A|||||| 22 26776183 . C T . . ANN=T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|16/16|c.3046-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|16/16|c.3043-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|15/15|c.3013-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|15/15|c.3007-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|14/14|c.2821-49C>T||||||,T|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|14/14|c.2818-49C>T|||||| 22 26776221 . C G . . ANN=G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|16/16|c.3046-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|16/16|c.3043-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|15/15|c.3013-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|15/15|c.3007-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|14/14|c.2821-11C>G||||||,G|intron_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|14/14|c.2818-11C>G|||||| 22 26776228 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|16/16|c.3046-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|16/16|c.3043-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|15/15|c.3013-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|15/15|c.3007-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|14/14|c.2821-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|14/14|c.2818-4G>A|||||| 22 26776246 . T C . . ANN=C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|17/17|c.3060T>C|p.Tyr1020Tyr|3256/6573|3060/3075|1020/1024||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|17/17|c.3057T>C|p.Tyr1019Tyr|3253/6570|3057/3072|1019/1023||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|16/16|c.3027T>C|p.Tyr1009Tyr|3223/6540|3027/3042|1009/1013||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|16/16|c.3021T>C|p.Tyr1007Tyr|3217/6534|3021/3036|1007/1011||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|15/15|c.2835T>C|p.Tyr945Tyr|3031/6348|2835/2850|945/949||,C|synonymous_variant|LOW|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|15/15|c.2832T>C|p.Tyr944Tyr|3028/6345|2832/2847|944/948|| 22 26776311 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_021115.4|Coding|17/17|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184773.1|Coding|17/17|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184774.1|Coding|16/16|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184775.1|Coding|16/16|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184776.1|Coding|15/15|c.*50C>T|||||50|,T|3_prime_UTR_variant|MODIFIER|SEZ6L|SEZ6L|transcript|NM_001184777.1|Coding|15/15|c.*50C>T|||||50| 22 26829914 . T C . . ANN=C|synonymous_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.333T>C|p.Pro111Pro|730/3313|333/1110|111/369|| 22 26829954 . A G . . ANN=G|missense_variant|MODERATE|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.373A>G|p.Lys125Glu|770/3313|373/1110|125/369|| 22 26829980 . C T . . ANN=T|synonymous_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.399C>T|p.Tyr133Tyr|796/3313|399/1110|133/369|| 22 26830094 . C T . . ANN=T|synonymous_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.513C>T|p.Pro171Pro|910/3313|513/1110|171/369|| 22 26830148 . A C . . ANN=C|missense_variant|MODERATE|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.567A>C|p.Glu189Asp|964/3313|567/1110|189/369|| 22 26830256 . C T . . ANN=T|synonymous_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.675C>T|p.Ser225Ser|1072/3313|675/1110|225/369|| 22 26830285 . A G . . ANN=G|missense_variant|MODERATE|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.704A>G|p.Asn235Ser|1101/3313|704/1110|235/369|| 22 26830316 . G A . . ANN=A|synonymous_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.735G>A|p.Arg245Arg|1132/3313|735/1110|245/369|| 22 26830388 . G A . . ANN=A|synonymous_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.807G>A|p.Ala269Ala|1204/3313|807/1110|269/369|| 22 26830413 . A T . . ANN=T|missense_variant|MODERATE|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/4|c.832A>T|p.Thr278Ser|1229/3313|832/1110|278/369|| 22 26830478 . A G . . ANN=G|intron_variant|MODIFIER|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/3|c.886+11A>G|||||| 22 26830495 . G A . . ANN=A|intron_variant|MODIFIER|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|2/3|c.886+28G>A|||||| 22 26838430 . A C . . ANN=C|missense_variant|MODERATE|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|3/4|c.892A>C|p.Lys298Gln|1289/3313|892/1110|298/369|| 22 26838459 . G T . . ANN=T|synonymous_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|3/4|c.921G>T|p.Val307Val|1318/3313|921/1110|307/369|| 22 26839055 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|3/3|c.1001-8C>T|||||| 22 26839058 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|3/3|c.1001-5C>G|||||| 22 26839059 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|3/3|c.1001-4C>A|||||| 22 26839081 . C T . . ANN=T|missense_variant|MODERATE|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|4/4|c.1019C>T|p.Pro340Leu|1416/3313|1019/1110|340/369|| 22 26839084 . G A . . ANN=A|missense_variant|MODERATE|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|4/4|c.1022G>A|p.Arg341Gln|1419/3313|1022/1110|341/369|| 22 26839103 . T C . . ANN=C|synonymous_variant|LOW|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|4/4|c.1041T>C|p.Asp347Asp|1438/3313|1041/1110|347/369|| 22 26839187 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|4/4|c.*15C>T|||||15| 22 26839213 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ASPHD2|ASPHD2|transcript|NM_020437.4|Coding|4/4|c.*41G>A|||||41| 22 26849285 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|14/14|c.2041G>A|p.Gly681Ser|2709/5145|2041/2127|681/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|12/12|c.2026G>A|p.Gly676Ser|2326/4762|2026/2112|676/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|13/13|n.2489G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|14/14|n.2727G>A|||||| 22 26849364 . G A . . ANN=A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|14/14|c.1962C>T|p.Ala654Ala|2630/5145|1962/2127|654/708||,A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|12/12|c.1947C>T|p.Ala649Ala|2247/4762|1947/2112|649/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|13/13|n.2410C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|14/14|n.2648C>T|||||| 22 26849395 . C T . . ANN=T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|13/13|c.1956-25G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|11/11|c.1941-25G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/12|n.2404-25G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/13|n.2642-25G>A|||||| 22 26849402 . A G . . ANN=G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|13/13|c.1956-32T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|11/11|c.1941-32T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/12|n.2404-32T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/13|n.2642-32T>C|||||| 22 26853787 . G A . . ANN=A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|13/13|c.1955+38C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|11/11|c.1940+38C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/12|n.2403+38C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/13|n.2641+38C>T|||||| 22 26853798 . G A . . ANN=A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|13/13|c.1955+27C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|11/11|c.1940+27C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/12|n.2403+27C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/13|n.2641+27C>T|||||| 22 26853807 . C T . . ANN=T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|13/13|c.1955+18G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|11/11|c.1940+18G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/12|n.2403+18G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/13|n.2641+18G>A|||||| 22 26853833 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|13/14|c.1947G>A|p.Met649Ile|2615/5145|1947/2127|649/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|11/12|c.1932G>A|p.Met644Ile|2232/4762|1932/2112|644/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/13|n.2395G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/14|n.2633G>A|||||| 22 26853881 . G A . . ANN=A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|13/14|c.1899C>T|p.Val633Val|2567/5145|1899/2127|633/708||,A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|11/12|c.1884C>T|p.Val628Val|2184/4762|1884/2112|628/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/13|n.2347C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/14|n.2585C>T|||||| 22 26853883 . C G . . ANN=G|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|13/14|c.1897G>C|p.Val633Leu|2565/5145|1897/2127|633/708||,G|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|11/12|c.1882G>C|p.Val628Leu|2182/4762|1882/2112|628/703||,G|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/13|n.2345G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/14|n.2583G>C|||||| 22 26853897 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|13/14|c.1883G>A|p.Arg628His|2551/5145|1883/2127|628/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|11/12|c.1868G>A|p.Arg623His|2168/4762|1868/2112|623/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/13|n.2331G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/14|n.2569G>A|||||| 22 26853905 . C A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|13/14|c.1875G>T|p.Gln625His|2543/5145|1875/2127|625/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|11/12|c.1860G>T|p.Gln620His|2160/4762|1860/2112|620/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|12/13|n.2323G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|13/14|n.2561G>T|||||| 22 26853966 . A G . . ANN=G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|12/13|c.1847-33T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|10/11|c.1832-33T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|11/12|n.2295-33T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|12/13|n.2533-33T>C|||||| 22 26853980 . T C . . ANN=C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|12/13|c.1847-47A>G||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|10/11|c.1832-47A>G||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|11/12|n.2295-47A>G||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|12/13|n.2533-47A>G|||||| 22 26854381 . G A . . ANN=A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|12/13|c.1846+30C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|10/11|c.1831+30C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|11/12|n.2294+30C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|12/13|n.2532+30C>T|||||| 22 26854441 . G A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|12/14|c.1816C>T|p.His606Tyr|2484/5145|1816/2127|606/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|10/12|c.1801C>T|p.His601Tyr|2101/4762|1801/2112|601/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|11/13|n.2264C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|12/14|n.2502C>T|||||| 22 26859896 . G A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1700C>T|p.Ala567Val|2368/5145|1700/2127|567/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1685C>T|p.Ala562Val|1985/4762|1685/2112|562/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.2148C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.2386C>T|||||| 22 26859942 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1654G>A|p.Val552Met|2322/5145|1654/2127|552/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1639G>A|p.Val547Met|1939/4762|1639/2112|547/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.2102G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.2340G>A|||||| 22 26859956 . C G . . ANN=G|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1640G>C|p.Cys547Ser|2308/5145|1640/2127|547/708||,G|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1625G>C|p.Cys542Ser|1925/4762|1625/2112|542/703||,G|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.2088G>C||||||,G|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.2326G>C|||||| 22 26859981 . C A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1615G>T|p.Val539Leu|2283/5145|1615/2127|539/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1600G>T|p.Val534Leu|1900/4762|1600/2112|534/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.2063G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.2301G>T|||||| 22 26860015 . G A . . ANN=A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1581C>T|p.Ser527Ser|2249/5145|1581/2127|527/708||,A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1566C>T|p.Ser522Ser|1866/4762|1566/2112|522/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.2029C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.2267C>T|||||| 22 26860199 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1397G>A|p.Arg466His|2065/5145|1397/2127|466/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1382G>A|p.Arg461His|1682/4762|1382/2112|461/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1845G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.2083G>A|||||| 22 26860236 . G T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1360C>A|p.Pro454Thr|2028/5145|1360/2127|454/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1345C>A|p.Pro449Thr|1645/4762|1345/2112|449/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1808C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.2046C>A|||||| 22 26860269 . G C . . ANN=C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1327C>G|p.Leu443Val|1995/5145|1327/2127|443/708||,C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1312C>G|p.Leu438Val|1612/4762|1312/2112|438/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1775C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.2013C>G|||||| 22 26860289 . T C . . ANN=C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1307A>G|p.Gln436Arg|1975/5145|1307/2127|436/708||,C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1292A>G|p.Gln431Arg|1592/4762|1292/2112|431/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1755A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1993A>G|||||| 22 26860364 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1232G>A|p.Ser411Asn|1900/5145|1232/2127|411/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1217G>A|p.Ser406Asn|1517/4762|1217/2112|406/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1680G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1918G>A|||||| 22 26860437 . A T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1159T>A|p.Phe387Ile|1827/5145|1159/2127|387/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1144T>A|p.Phe382Ile|1444/4762|1144/2112|382/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1607T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1845T>A|||||| 22 26860535 . G C . . ANN=C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1061C>G|p.Ser354Cys|1729/5145|1061/2127|354/708||,C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1046C>G|p.Ser349Cys|1346/4762|1046/2112|349/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1509C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1747C>G|||||| 22 26860536 . A T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1060T>A|p.Ser354Thr|1728/5145|1060/2127|354/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.1045T>A|p.Ser349Thr|1345/4762|1045/2112|349/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1508T>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1746T>A|||||| 22 26860582 . G A . . ANN=A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.1014C>T|p.Pro338Pro|1682/5145|1014/2127|338/708||,A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.999C>T|p.Pro333Pro|1299/4762|999/2112|333/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1462C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1700C>T|||||| 22 26860650 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.946G>A|p.Glu316Lys|1614/5145|946/2127|316/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.931G>A|p.Glu311Lys|1231/4762|931/2112|311/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1394G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1632G>A|||||| 22 26860651 . G A . . ANN=A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.945C>T|p.Asp315Asp|1613/5145|945/2127|315/708||,A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.930C>T|p.Asp310Asp|1230/4762|930/2112|310/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1393C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1631C>T|||||| 22 26860708 . G A . . ANN=A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|11/14|c.888C>T|p.Asn296Asn|1556/5145|888/2127|296/708||,A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|9/12|c.873C>T|p.Asn291Asn|1173/4762|873/2112|291/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|10/13|n.1336C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|11/14|n.1574C>T|||||| 22 26860801 . CAA C . . ANN=C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|10/13|c.804-11_804-10delTT||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|8/11|c.789-11_789-10delTT||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|9/12|n.1252-11_1252-10delTT||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|10/13|n.1490-11_1490-10delTT|||||| 22 26861429 . C T . . ANN=T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|10/14|c.795G>A|p.Gln265Gln|1463/5145|795/2127|265/708||,T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|8/12|c.780G>A|p.Gln260Gln|1080/4762|780/2112|260/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|9/13|n.1243G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|10/14|n.1481G>A|||||| 22 26861473 . T A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|10/14|c.751A>T|p.Thr251Ser|1419/5145|751/2127|251/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|8/12|c.736A>T|p.Thr246Ser|1036/4762|736/2112|246/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|9/13|n.1199A>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|10/14|n.1437A>T|||||| 22 26861483 . A C,G,T . . ANN=C|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|10/14|c.741T>G|p.Pro247Pro|1409/5145|741/2127|247/708||,G|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|10/14|c.741T>C|p.Pro247Pro|1409/5145|741/2127|247/708||,T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|10/14|c.741T>A|p.Pro247Pro|1409/5145|741/2127|247/708||,C|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|8/12|c.726T>G|p.Pro242Pro|1026/4762|726/2112|242/703||,G|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|8/12|c.726T>C|p.Pro242Pro|1026/4762|726/2112|242/703||,T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|8/12|c.726T>A|p.Pro242Pro|1026/4762|726/2112|242/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|9/13|n.1189T>G||||||,G|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|9/13|n.1189T>C||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|9/13|n.1189T>A||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|10/14|n.1427T>G||||||,G|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|10/14|n.1427T>C||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|10/14|n.1427T>A|||||| 22 26861501 . C T . . ANN=T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|10/14|c.723G>A|p.Pro241Pro|1391/5145|723/2127|241/708||,T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|8/12|c.708G>A|p.Pro236Pro|1008/4762|708/2112|236/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|9/13|n.1171G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|10/14|n.1409G>A|||||| 22 26861514 . G A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|10/14|c.710C>T|p.Ala237Val|1378/5145|710/2127|237/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|8/12|c.695C>T|p.Ala232Val|995/4762|695/2112|232/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|9/13|n.1158C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|10/14|n.1396C>T|||||| 22 26861545 . A G . . ANN=G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|9/13|c.707-28T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|7/11|c.692-28T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|8/12|n.1155-28T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|9/13|n.1393-28T>C|||||| 22 26861556 . AG A . . ANN=A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|9/13|c.707-40delC||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|7/11|c.692-40delC||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|8/12|n.1155-40delC||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|9/13|n.1393-40delC|||||| 22 26862153 . C A . . ANN=A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|9/13|c.706+39G>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|7/11|c.691+39G>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|7/12|n.1100+39G>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|9/13|n.1392+39G>T|||||| 22 26862156 . C T . . ANN=T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|9/13|c.706+36G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|7/11|c.691+36G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|7/12|n.1100+36G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|9/13|n.1392+36G>A|||||| 22 26862184 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|9/13|c.706+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|7/11|c.691+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NR_073136.1|Noncoding|7/12|n.1100+8G>C||||||,G|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NR_073135.1|Noncoding|9/13|n.1392+8G>C|||||| 22 26862202 . C T . . ANN=T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|9/14|c.696G>A|p.Pro232Pro|1364/5145|696/2127|232/708||,T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|7/12|c.681G>A|p.Pro227Pro|981/4762|681/2112|227/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|7/13|n.1090G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|9/14|n.1382G>A|||||| 22 26862212 . T C . . ANN=C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|9/14|c.686A>G|p.Glu229Gly|1354/5145|686/2127|229/708||,C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|7/12|c.671A>G|p.Glu224Gly|971/4762|671/2112|224/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|7/13|n.1080A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|9/14|n.1372A>G|||||| 22 26862218 . G A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|9/14|c.680C>T|p.Thr227Met|1348/5145|680/2127|227/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|7/12|c.665C>T|p.Thr222Met|965/4762|665/2112|222/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|7/13|n.1074C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|9/14|n.1366C>T|||||| 22 26864568 . C T . . ANN=T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|8/14|c.618G>A|p.Pro206Pro|1286/5145|618/2127|206/708||,T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|6/12|c.603G>A|p.Pro201Pro|903/4762|603/2112|201/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|6/13|n.1012G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|8/14|n.1304G>A|||||| 22 26866641 . A G . . ANN=G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|7/13|c.596+44T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|5/11|c.581+44T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|5/12|n.990+44T>C||||||,G|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|7/13|n.1282+44T>C|||||| 22 26866688 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|7/14|c.593G>A|p.Gly198Glu|1261/5145|593/2127|198/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|5/12|c.578G>A|p.Gly193Glu|878/4762|578/2112|193/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|5/13|n.987G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|7/14|n.1279G>A|||||| 22 26866711 . G A . . ANN=A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|7/14|c.570C>T|p.Leu190Leu|1238/5145|570/2127|190/708||,A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|5/12|c.555C>T|p.Leu185Leu|855/4762|555/2112|185/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|5/13|n.964C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|7/14|n.1256C>T|||||| 22 26866718 . T C . . ANN=C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|7/14|c.563A>G|p.His188Arg|1231/5145|563/2127|188/708||,C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|5/12|c.548A>G|p.His183Arg|848/4762|548/2112|183/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|5/13|n.957A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|7/14|n.1249A>G|||||| 22 26866723 . C T . . ANN=T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|7/14|c.558G>A|p.Ser186Ser|1226/5145|558/2127|186/708||,T|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|5/12|c.543G>A|p.Ser181Ser|843/4762|543/2112|181/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|5/13|n.952G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|7/14|n.1244G>A|||||| 22 26866724 . G A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|7/14|c.557C>T|p.Ser186Leu|1225/5145|557/2127|186/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|5/12|c.542C>T|p.Ser181Leu|842/4762|542/2112|181/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|5/13|n.951C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|7/14|n.1243C>T|||||| 22 26866738 . C A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|7/14|c.543G>T|p.Gln181His|1211/5145|543/2127|181/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|5/12|c.528G>T|p.Gln176His|828/4762|528/2112|176/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|5/13|n.937G>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|7/14|n.1229G>T|||||| 22 26866787 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|6/13|c.502-8C>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|4/11|c.487-8C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|5/13|n.888C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|7/14|n.1180C>G|||||| 22 26868324 . T C . . ANN=C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|6/14|c.445A>G|p.Asn149Asp|1113/5145|445/2127|149/708||,C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|4/12|c.430A>G|p.Asn144Asp|730/4762|430/2112|144/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|4/13|n.730A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|6/14|n.1022A>G|||||| 22 26868359 . G A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|6/14|c.410C>T|p.Thr137Met|1078/5145|410/2127|137/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|4/12|c.395C>T|p.Thr132Met|695/4762|395/2112|132/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|4/13|n.695C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|6/14|n.987C>T|||||| 22 26868748 . G A . . ANN=A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|5/13|c.384+50C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|3/11|c.369+50C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|3/12|n.669+50C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|5/13|n.961+50C>T|||||| 22 26868809 . G C . . ANN=C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|5/14|c.373C>G|p.Leu125Val|1041/5145|373/2127|125/708||,C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|3/12|c.358C>G|p.Leu120Val|658/4762|358/2112|120/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|3/13|n.658C>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|5/14|n.950C>G|||||| 22 26868862 . C T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|5/14|c.320G>A|p.Arg107Gln|988/5145|320/2127|107/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|3/12|c.305G>A|p.Arg102Gln|605/4762|305/2112|102/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|3/13|n.605G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|5/14|n.897G>A|||||| 22 26868938 . T C . . ANN=C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|4/13|c.277-33A>G||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|2/11|c.262-33A>G||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|2/12|n.562-33A>G||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|4/13|n.854-33A>G|||||| 22 26868946 . CT C . . ANN=C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|4/13|c.277-42delA||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|2/11|c.262-42delA||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|2/12|n.562-42delA||||||,C|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|4/13|n.854-42delA|||||| 22 26872985 . T C . . ANN=C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|4/14|c.250A>G|p.Ile84Val|918/5145|250/2127|84/708||,C|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|2/12|c.235A>G|p.Ile79Val|535/4762|235/2112|79/703||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|2/13|n.535A>G||||||,C|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|4/14|n.827A>G|||||| 22 26873006 . G T . . ANN=T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|4/14|c.229C>A|p.Leu77Met|897/5145|229/2127|77/708||,T|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|2/12|c.214C>A|p.Leu72Met|514/4762|214/2112|72/703||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|2/13|n.514C>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|4/14|n.806C>A|||||| 22 26873051 . G A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|4/14|c.184C>T|p.Arg62Cys|852/5145|184/2127|62/708||,A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_152841.2|Coding|2/12|c.169C>T|p.Arg57Cys|469/4762|169/2112|57/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|2/13|n.469C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|4/14|n.761C>T|||||| 22 26873114 . G A . . ANN=A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|3/13|c.133-12C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|1/11|c.118-12C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|1/12|n.418-12C>T||||||,A|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|3/13|n.710-12C>T|||||| 22 26875223 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|3/13|c.132+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|1/11|c.117+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NR_073136.1|Noncoding|1/12|n.417+8A>G||||||,C|splice_region_variant&intron_variant|LOW|HPS4|HPS4|transcript|NR_073135.1|Noncoding|3/13|n.709+8A>G|||||| 22 26875255 . G A . . ANN=A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|3/14|c.108C>T|p.Gly36Gly|776/5145|108/2127|36/708||,A|synonymous_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|1/12|c.93C>T|p.Gly31Gly|393/4762|93/2112|31/703||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|1/13|n.393C>T||||||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|3/14|n.685C>T|||||| 22 26875370 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|HPS4|HPS4|transcript|NM_152841.2|Coding|1/12|c.-23G>A||||||,T|5_prime_UTR_variant|MODIFIER|HPS4|HPS4|transcript|NM_152841.2|Coding|1/12|c.-23G>A|||||23|,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|2/13|c.42-49G>A||||||,T|intron_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|2/13|n.619-49G>A||||||,T|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073136.1|Noncoding|1/13|n.278G>A|||||| 22 26877706 . T A . . ANN=A|missense_variant|MODERATE|HPS4|HPS4|transcript|NM_022081.5|Coding|2/14|c.23A>T|p.Glu8Val|691/5145|23/2127|8/708||,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|2/14|n.600A>T|||||| 22 26877774 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|2/14|c.-46G>C|||||46|,G|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|2/14|n.532G>C|||||| 22 26879823 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|HPS4|HPS4|transcript|NM_022081.5|Coding|1/14|c.-662G>T||||||,A|5_prime_UTR_variant|MODIFIER|HPS4|HPS4|transcript|NM_022081.5|Coding|1/14|c.-662G>T|||||2095|,A|non_coding_exon_variant|MODIFIER|HPS4|HPS4|transcript|NR_073135.1|Noncoding|1/14|n.7G>T|||||| 22 26879967 . A G . . ANN=G|synonymous_variant|LOW|SRRD|SRRD|transcript|NM_001013694.2|Coding|1/7|c.111A>G|p.Arg37Arg|118/1293|111/1020|37/339|| 22 26884039 . G A . . ANN=A|missense_variant|MODERATE|SRRD|SRRD|transcript|NM_001013694.2|Coding|3/7|c.295G>A|p.Ala99Thr|302/1293|295/1020|99/339|| 22 26884042 . C T . . ANN=T|missense_variant|MODERATE|SRRD|SRRD|transcript|NM_001013694.2|Coding|3/7|c.298C>T|p.Pro100Ser|305/1293|298/1020|100/339|| 22 26884152 . C T . . ANN=T|synonymous_variant|LOW|SRRD|SRRD|transcript|NM_001013694.2|Coding|3/7|c.408C>T|p.Thr136Thr|415/1293|408/1020|136/339|| 22 26884266 . G C . . ANN=C|intron_variant|MODIFIER|SRRD|SRRD|transcript|NM_001013694.2|Coding|3/6|c.510+12G>C|||||| 22 26884278 . TCTC T . . ANN=T|intron_variant|MODIFIER|SRRD|SRRD|transcript|NM_001013694.2|Coding|3/6|c.510+25_510+27delCTC|||||| 22 26884324 . G A . . ANN=A|intron_variant|MODIFIER|SRRD|SRRD|transcript|NM_001013694.2|Coding|3/6|c.511-32G>A|||||| 22 26886030 . C T . . ANN=T|synonymous_variant|LOW|SRRD|SRRD|transcript|NM_001013694.2|Coding|5/7|c.630C>T|p.Arg210Arg|637/1293|630/1020|210/339|| 22 26886069 . G A . . ANN=A|synonymous_variant|LOW|SRRD|SRRD|transcript|NM_001013694.2|Coding|5/7|c.669G>A|p.Thr223Thr|676/1293|669/1020|223/339|| 22 26886189 . T C . . ANN=C|intron_variant|MODIFIER|SRRD|SRRD|transcript|NM_001013694.2|Coding|5/6|c.764+25T>C|||||| 22 26886953 . GT G . . ANN=G|intron_variant|MODIFIER|SRRD|SRRD|transcript|NM_001013694.2|Coding|5/6|c.765-37delT|||||| 22 26886971 . T G . . ANN=G|intron_variant|MODIFIER|SRRD|SRRD|transcript|NM_001013694.2|Coding|5/6|c.765-20T>G|||||| 22 26886973 . G T . . ANN=T|intron_variant|MODIFIER|SRRD|SRRD|transcript|NM_001013694.2|Coding|5/6|c.765-18G>T|||||| 22 26887051 . A G . . ANN=G|intron_variant|MODIFIER|SRRD|SRRD|transcript|NM_001013694.2|Coding|6/6|c.810+15A>G|||||| 22 26887452 . T G . . ANN=G|synonymous_variant|LOW|SRRD|SRRD|transcript|NM_001013694.2|Coding|7/7|c.834T>G|p.Leu278Leu|841/1293|834/1020|278/339|| 22 26887510 . T G . . ANN=G|missense_variant|MODERATE|SRRD|SRRD|transcript|NM_001013694.2|Coding|7/7|c.892T>G|p.Phe298Val|899/1293|892/1020|298/339|| 22 26888024 . C T . . ANN=T|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|16/16|c.2469G>A|p.Thr823Thr|2796/2926|2469/2514|823/837||,T|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|15/15|c.2469G>A|p.Thr823Thr|2719/2849|2469/2514|823/837|| 22 26888033 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|16/16|c.2460C>T|p.Gly820Gly|2787/2926|2460/2514|820/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|15/15|c.2460C>T|p.Gly820Gly|2710/2849|2460/2514|820/837|| 22 26888060 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|16/16|c.2433C>T|p.Ile811Ile|2760/2926|2433/2514|811/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|15/15|c.2433C>T|p.Ile811Ile|2683/2849|2433/2514|811/837|| 22 26888204 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|16/16|c.2289C>T|p.Gly763Gly|2616/2926|2289/2514|763/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|15/15|c.2289C>T|p.Gly763Gly|2539/2849|2289/2514|763/837|| 22 26888258 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|16/16|c.2235C>T|p.Tyr745Tyr|2562/2926|2235/2514|745/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|15/15|c.2235C>T|p.Tyr745Tyr|2485/2849|2235/2514|745/837|| 22 26888264 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|16/16|c.2229C>T|p.Phe743Phe|2556/2926|2229/2514|743/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|15/15|c.2229C>T|p.Phe743Phe|2479/2849|2229/2514|743/837|| 22 26888345 . G C . . ANN=C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|15/15|c.2159-11C>G||||||,C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|14/14|c.2159-11C>G|||||| 22 26888377 . G A . . ANN=A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|15/15|c.2159-43C>T||||||,A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|14/14|c.2159-43C>T|||||| 22 26890086 . A T . . ANN=T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|15/15|c.2158+19T>A||||||,T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|14/14|c.2158+19T>A|||||| 22 26890155 . T C . . ANN=C|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|15/16|c.2108A>G|p.Lys703Arg|2435/2926|2108/2514|703/837||,C|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|14/15|c.2108A>G|p.Lys703Arg|2358/2849|2108/2514|703/837|| 22 26890736 . C T . . ANN=T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|14/15|c.1992+27G>A||||||,T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|13/14|c.1992+27G>A|||||| 22 26890927 . T C . . ANN=C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|13/15|c.1850-22A>G||||||,C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|12/14|c.1850-22A>G|||||| 22 26892031 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|13/15|c.1849+8T>C||||||,G|splice_region_variant&intron_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|12/14|c.1849+8T>C|||||| 22 26892136 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|13/16|c.1752C>T|p.Ser584Ser|2079/2926|1752/2514|584/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|12/15|c.1752C>T|p.Ser584Ser|2002/2849|1752/2514|584/837|| 22 26892229 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|13/16|c.1659C>T|p.His553His|1986/2926|1659/2514|553/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|12/15|c.1659C>T|p.His553His|1909/2849|1659/2514|553/837|| 22 26892241 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|13/16|c.1647C>T|p.His549His|1974/2926|1647/2514|549/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|12/15|c.1647C>T|p.His549His|1897/2849|1647/2514|549/837|| 22 26892292 . G C . . ANN=C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|12/15|c.1606-10C>G||||||,C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|11/14|c.1606-10C>G|||||| 22 26892306 . G C . . ANN=C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|12/15|c.1606-24C>G||||||,C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|11/14|c.1606-24C>G|||||| 22 26892659 . C T . . ANN=T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|12/15|c.1605+28G>A||||||,T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|11/14|c.1605+28G>A|||||| 22 26892752 . T C . . ANN=C|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|12/16|c.1540A>G|p.Ile514Val|1867/2926|1540/2514|514/837||,C|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|11/15|c.1540A>G|p.Ile514Val|1790/2849|1540/2514|514/837|| 22 26892763 . C G . . ANN=G|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|12/16|c.1529G>C|p.Ser510Thr|1856/2926|1529/2514|510/837||,G|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|11/15|c.1529G>C|p.Ser510Thr|1779/2849|1529/2514|510/837|| 22 26892844 . T C . . ANN=C|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|12/16|c.1448A>G|p.Glu483Gly|1775/2926|1448/2514|483/837||,C|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|11/15|c.1448A>G|p.Glu483Gly|1698/2849|1448/2514|483/837|| 22 26892898 . C T . . ANN=T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|11/15|c.1437-43G>A||||||,T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|10/14|c.1437-43G>A|||||| 22 26894879 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|11/16|c.1392C>T|p.Leu464Leu|1719/2926|1392/2514|464/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|10/15|c.1392C>T|p.Leu464Leu|1642/2849|1392/2514|464/837|| 22 26894974 . G A . . ANN=A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/15|c.1330-33C>T||||||,A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/14|c.1330-33C>T|||||| 22 26894985 . C T . . ANN=T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/15|c.1330-44G>A||||||,T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/14|c.1330-44G>A|||||| 22 26895047 . G T . . ANN=T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/15|c.1329+23C>A||||||,T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/14|c.1329+23C>A|||||| 22 26895049 . T C . . ANN=C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/15|c.1329+21A>G||||||,C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/14|c.1329+21A>G|||||| 22 26895061 . G A . . ANN=A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/15|c.1329+9C>T||||||,A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/14|c.1329+9C>T|||||| 22 26895127 . A G . . ANN=G|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.1272T>C|p.Ala424Ala|1599/2926|1272/2514|424/837||,G|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.1272T>C|p.Ala424Ala|1522/2849|1272/2514|424/837|| 22 26895128 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.1271C>T|p.Ala424Val|1598/2926|1271/2514|424/837||,A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.1271C>T|p.Ala424Val|1521/2849|1271/2514|424/837|| 22 26895204 . C T . . ANN=T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.1195G>A|p.Glu399Lys|1522/2926|1195/2514|399/837||,T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.1195G>A|p.Glu399Lys|1445/2849|1195/2514|399/837|| 22 26895227 . C T . . ANN=T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.1172G>A|p.Cys391Tyr|1499/2926|1172/2514|391/837||,T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.1172G>A|p.Cys391Tyr|1422/2849|1172/2514|391/837|| 22 26895246 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.1153C>T|p.Arg385Trp|1480/2926|1153/2514|385/837||,A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.1153C>T|p.Arg385Trp|1403/2849|1153/2514|385/837|| 22 26895248 . T G . . ANN=G|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.1151A>C|p.Glu384Ala|1478/2926|1151/2514|384/837||,G|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.1151A>C|p.Glu384Ala|1401/2849|1151/2514|384/837|| 22 26895337 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.1062C>T|p.His354His|1389/2926|1062/2514|354/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.1062C>T|p.His354His|1312/2849|1062/2514|354/837|| 22 26895387 . T G . . ANN=G|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.1012A>C|p.Asn338His|1339/2926|1012/2514|338/837||,G|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.1012A>C|p.Asn338His|1262/2849|1012/2514|338/837|| 22 26895496 . T C . . ANN=C|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.903A>G|p.Gln301Gln|1230/2926|903/2514|301/837||,C|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.903A>G|p.Gln301Gln|1153/2849|903/2514|301/837|| 22 26895517 . A T . . ANN=T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.882T>A|p.Asp294Glu|1209/2926|882/2514|294/837||,T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.882T>A|p.Asp294Glu|1132/2849|882/2514|294/837|| 22 26895528 . C T . . ANN=T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|10/16|c.871G>A|p.Val291Ile|1198/2926|871/2514|291/837||,T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|9/15|c.871G>A|p.Val291Ile|1121/2849|871/2514|291/837|| 22 26895613 . G A . . ANN=A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|9/15|c.802-16C>T||||||,A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|8/14|c.802-16C>T|||||| 22 26897819 . A C . . ANN=C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|9/15|c.801+47T>G||||||,C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|8/14|c.801+47T>G|||||| 22 26897834 . A T . . ANN=T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|9/15|c.801+32T>A||||||,T|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|8/14|c.801+32T>A|||||| 22 26897845 . G C . . ANN=C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|9/15|c.801+21C>G||||||,C|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|8/14|c.801+21C>G|||||| 22 26899695 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|8/16|c.585C>T|p.Ser195Ser|912/2926|585/2514|195/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|7/15|c.585C>T|p.Ser195Ser|835/2849|585/2514|195/837|| 22 26899784 . AG A . . ANN=A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|7/15|c.521-26delC||||||,A|intron_variant|MODIFIER|TFIP11|TFIP11|transcript|NM_012143.2|Coding|6/14|c.521-26delC|||||| 22 26902371 . T C . . ANN=C|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|7/16|c.418A>G|p.Met140Val|745/2926|418/2514|140/837||,C|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|6/15|c.418A>G|p.Met140Val|668/2849|418/2514|140/837|| 22 26902750 . C T . . ANN=T|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|6/16|c.354G>A|p.Lys118Lys|681/2926|354/2514|118/837||,T|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|5/15|c.354G>A|p.Lys118Lys|604/2849|354/2514|118/837|| 22 26902835 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|6/16|c.269C>T|p.Ala90Val|596/2926|269/2514|90/837||,A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|5/15|c.269C>T|p.Ala90Val|519/2849|269/2514|90/837|| 22 26902890 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|6/16|c.214C>T|p.Arg72Cys|541/2926|214/2514|72/837||,A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|5/15|c.214C>T|p.Arg72Cys|464/2849|214/2514|72/837|| 22 26906031 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|5/16|c.208C>T|p.Arg70Trp|535/2926|208/2514|70/837||,A|missense_variant&splice_region_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|4/15|c.208C>T|p.Arg70Trp|458/2849|208/2514|70/837|| 22 26906086 . G A . . ANN=A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|5/16|c.153C>T|p.Tyr51Tyr|480/2926|153/2514|51/837||,A|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|4/15|c.153C>T|p.Tyr51Tyr|403/2849|153/2514|51/837|| 22 26906089 . G C . . ANN=C|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|5/16|c.150C>G|p.Thr50Thr|477/2926|150/2514|50/837||,C|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|4/15|c.150C>G|p.Thr50Thr|400/2849|150/2514|50/837|| 22 26906159 . G A . . ANN=A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|5/16|c.80C>T|p.Thr27Ile|407/2926|80/2514|27/837||,A|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|4/15|c.80C>T|p.Thr27Ile|330/2849|80/2514|27/837|| 22 26906185 . A G . . ANN=G|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|5/16|c.54T>C|p.Asp18Asp|381/2926|54/2514|18/837||,G|synonymous_variant|LOW|TFIP11|TFIP11|transcript|NM_012143.2|Coding|4/15|c.54T>C|p.Asp18Asp|304/2849|54/2514|18/837|| 22 26906216 . C T . . ANN=T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_001008697.1|Coding|5/16|c.23G>A|p.Arg8Gln|350/2926|23/2514|8/837||,T|missense_variant|MODERATE|TFIP11|TFIP11|transcript|NM_012143.2|Coding|4/15|c.23G>A|p.Arg8Gln|273/2849|23/2514|8/837|| 22 26924139 . C G . . ANN=G|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_001008566.1|Coding|6/6|c.*7+41G>C||||||,G|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_003595.3|Coding|6/6|c.*7+41G>C|||||| 22 26924142 . G A . . ANN=A|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_001008566.1|Coding|6/6|c.*7+38C>T||||||,A|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_003595.3|Coding|6/6|c.*7+38C>T|||||| 22 26924149 . C T . . ANN=T|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_001008566.1|Coding|6/6|c.*7+31G>A||||||,T|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_003595.3|Coding|6/6|c.*7+31G>A|||||| 22 26924177 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|6/6|c.*7+3A>G||||||,C|splice_region_variant&intron_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|6/6|c.*7+3A>G|||||| 22 26928613 . G A . . ANN=A|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_001008566.1|Coding|5/6|c.1092+48C>T||||||,A|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_003595.3|Coding|5/6|c.1092+48C>T|||||| 22 26928626 . A G . . ANN=G|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_001008566.1|Coding|5/6|c.1092+35T>C||||||,G|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_003595.3|Coding|5/6|c.1092+35T>C|||||| 22 26928676 . C T . . ANN=T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|5/7|c.1077G>A|p.Leu359Leu|1418/2002|1077/1134|359/377||,T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|5/7|c.1077G>A|p.Leu359Leu|1310/1894|1077/1134|359/377|| 22 26932231 . C T . . ANN=T|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_001008566.1|Coding|4/6|c.1041+23G>A||||||,T|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_003595.3|Coding|4/6|c.1041+23G>A|||||| 22 26932305 . G A . . ANN=A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|4/7|c.990C>T|p.Asn330Asn|1331/2002|990/1134|330/377||,A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|4/7|c.990C>T|p.Asn330Asn|1223/1894|990/1134|330/377|| 22 26932404 . C T . . ANN=T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|4/7|c.891G>A|p.Ala297Ala|1232/2002|891/1134|297/377||,T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|4/7|c.891G>A|p.Ala297Ala|1124/1894|891/1134|297/377|| 22 26936723 . G A . . ANN=A|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/6|c.842+32C>T||||||,A|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_003595.3|Coding|3/6|c.842+32C>T|||||| 22 26936724 . T G . . ANN=G|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/6|c.842+31A>C||||||,G|intron_variant|MODIFIER|TPST2|TPST2|transcript|NM_003595.3|Coding|3/6|c.842+31A>C|||||| 22 26936766 . G A . . ANN=A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.831C>T|p.Val277Val|1172/2002|831/1134|277/377||,A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.831C>T|p.Val277Val|1064/1894|831/1134|277/377|| 22 26936804 . G A . . ANN=A|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.793C>T|p.Leu265Phe|1134/2002|793/1134|265/377||,A|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.793C>T|p.Leu265Phe|1026/1894|793/1134|265/377|| 22 26936828 . C T . . ANN=T|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.769G>A|p.Gly257Ser|1110/2002|769/1134|257/377||,T|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.769G>A|p.Gly257Ser|1002/1894|769/1134|257/377|| 22 26936889 . C T . . ANN=T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.708G>A|p.Val236Val|1049/2002|708/1134|236/377||,T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.708G>A|p.Val236Val|941/1894|708/1134|236/377|| 22 26936897 . G A . . ANN=A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.700C>T|p.Leu234Leu|1041/2002|700/1134|234/377||,A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.700C>T|p.Leu234Leu|933/1894|700/1134|234/377|| 22 26936928 . G C . . ANN=C|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.669C>G|p.Ala223Ala|1010/2002|669/1134|223/377||,C|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.669C>G|p.Ala223Ala|902/1894|669/1134|223/377|| 22 26936997 . C T . . ANN=T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.600G>A|p.Ala200Ala|941/2002|600/1134|200/377||,T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.600G>A|p.Ala200Ala|833/1894|600/1134|200/377|| 22 26937033 . G A . . ANN=A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.564C>T|p.Ser188Ser|905/2002|564/1134|188/377||,A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.564C>T|p.Ser188Ser|797/1894|564/1134|188/377|| 22 26937045 . G A . . ANN=A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.552C>T|p.Asp184Asp|893/2002|552/1134|184/377||,A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.552C>T|p.Asp184Asp|785/1894|552/1134|184/377|| 22 26937049 . C T . . ANN=T|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.548G>A|p.Arg183Gln|889/2002|548/1134|183/377||,T|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.548G>A|p.Arg183Gln|781/1894|548/1134|183/377|| 22 26937087 . C A . . ANN=A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.510G>T|p.Ser170Ser|851/2002|510/1134|170/377||,A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.510G>T|p.Ser170Ser|743/1894|510/1134|170/377|| 22 26937139 . C T . . ANN=T|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.458G>A|p.Arg153His|799/2002|458/1134|153/377||,T|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.458G>A|p.Arg153His|691/1894|458/1134|153/377|| 22 26937198 . C G . . ANN=G|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.399G>C|p.Leu133Leu|740/2002|399/1134|133/377||,G|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.399G>C|p.Leu133Leu|632/1894|399/1134|133/377|| 22 26937219 . C G . . ANN=G|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.378G>C|p.Ala126Ala|719/2002|378/1134|126/377||,G|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.378G>C|p.Ala126Ala|611/1894|378/1134|126/377|| 22 26937244 . C T . . ANN=T|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.353G>A|p.Arg118His|694/2002|353/1134|118/377||,T|missense_variant|MODERATE|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.353G>A|p.Arg118His|586/1894|353/1134|118/377|| 22 26937321 . G A . . ANN=A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.276C>T|p.Pro92Pro|617/2002|276/1134|92/377||,A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.276C>T|p.Pro92Pro|509/1894|276/1134|92/377|| 22 26937327 . C G . . ANN=G|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.270G>C|p.Ala90Ala|611/2002|270/1134|90/377||,G|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.270G>C|p.Ala90Ala|503/1894|270/1134|90/377|| 22 26937420 . G A . . ANN=A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.177C>T|p.His59His|518/2002|177/1134|59/377||,A|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.177C>T|p.His59His|410/1894|177/1134|59/377|| 22 26937450 . C T . . ANN=T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_001008566.1|Coding|3/7|c.147G>A|p.Gln49Gln|488/2002|147/1134|49/377||,T|synonymous_variant|LOW|TPST2|TPST2|transcript|NM_003595.3|Coding|3/7|c.147G>A|p.Gln49Gln|380/1894|147/1134|49/377|| 22 26995408 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|6/6|c.*46C>T|||||46| 22 26995448 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|6/6|c.*6C>A|||||6| 22 26995457 . C T . . ANN=T|synonymous_variant|LOW|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|6/6|c.756G>A|p.Lys252Lys|826/921|756/759|252/252|| 22 26995462 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|6/6|c.751C>T|p.Pro251Ser|821/921|751/759|251/252|| 22 26995502 . C T . . ANN=T|stop_gained|HIGH|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|6/6|c.711G>A|p.Trp237*|781/921|711/759|237/252|| 22 26995524 . C T . . ANN=T|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|6/6|c.689G>A|p.Arg230His|759/921|689/759|230/252|| 22 26995572 . C T . . ANN=T|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|6/6|c.641G>A|p.Arg214Gln|711/921|641/759|214/252|| 22 26995640 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|5/5|c.576-3C>A|||||| 22 26997863 . G A . . ANN=A|synonymous_variant|LOW|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|5/6|c.555C>T|p.Ser185Ser|625/921|555/759|185/252|| 22 26997874 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|5/6|c.544C>T|p.Arg182Cys|614/921|544/759|182/252|| 22 26998002 . C T . . ANN=T|intron_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|4/5|c.433-17G>A|||||| 22 27003813 . G A . . ANN=A|intron_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|4/5|c.432+40C>T|||||| 22 27003886 . A G . . ANN=G|synonymous_variant|LOW|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|4/6|c.399T>C|p.Ser133Ser|469/921|399/759|133/252|| 22 27003902 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|4/6|c.383C>T|p.Ser128Leu|453/921|383/759|128/252|| 22 27003957 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|4/6|c.328C>T|p.Arg110Cys|398/921|328/759|110/252|| 22 27004005 . T A . . ANN=A|intron_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|3/5|c.300-20A>T|||||| 22 27008020 . G T . . ANN=T|intron_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|3/5|c.299+16C>A|||||| 22 27008022 . C T . . ANN=T|intron_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|3/5|c.299+14G>A|||||| 22 27008121 . G A . . ANN=A|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|3/6|c.214C>T|p.Arg72Cys|284/921|214/759|72/252|| 22 27008181 . G A . . ANN=A|intron_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|2/5|c.181-27C>T|||||| 22 27008195 . G C . . ANN=C|intron_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|2/5|c.181-41C>G|||||| 22 27012067 . G A . . ANN=A|intron_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|2/5|c.180+37C>T|||||| 22 27012128 . C T . . ANN=T|synonymous_variant|LOW|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|2/6|c.156G>A|p.Ala52Ala|226/921|156/759|52/252|| 22 27012132 . G T . . ANN=T|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|2/6|c.152C>A|p.Ala51Glu|222/921|152/759|51/252|| 22 27012210 . C T . . ANN=T|missense_variant|MODERATE|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|2/6|c.74G>A|p.Gly25Glu|144/921|74/759|25/252|| 22 27012289 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|CRYBB1|CRYBB1|transcript|NM_001887.3|Coding|2/6|c.-6G>A|||||6| 22 27018631 . G C . . ANN=C|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|2/5|c.39+32G>C|||||| 22 27019154 . G A . . ANN=A|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|2/5|c.40-44G>A|||||| 22 27019197 . G C . . ANN=C|splice_acceptor_variant&intron_variant|HIGH|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|2/5|c.40-1G>C||||||;LOF=(CRYBA4|CRYBA4|1|1.00) 22 27019219 . G A . . ANN=A|missense_variant|MODERATE|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|3/6|c.61G>A|p.Gly21Ser|96/811|61/591|21/196|| 22 27019225 . C T . . ANN=T|stop_gained|HIGH|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|3/6|c.67C>T|p.Gln23*|102/811|67/591|23/196||;LOF=(CRYBA4|CRYBA4|1|1.00);NMD=(CRYBA4|CRYBA4|1|1.00) 22 27019235 . G A . . ANN=A|missense_variant|MODERATE|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|3/6|c.77G>A|p.Arg26Gln|112/811|77/591|26/196|| 22 27019264 . G A . . ANN=A|missense_variant|MODERATE|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|3/6|c.106G>A|p.Val36Met|141/811|106/591|36/196|| 22 27021401 . G A . . ANN=A|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|3/5|c.159-44G>A|||||| 22 27021409 . C T . . ANN=T|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|3/5|c.159-36C>T|||||| 22 27021425 . A G . . ANN=G|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|3/5|c.159-20A>G|||||| 22 27021457 . T C . . ANN=C|synonymous_variant|LOW|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|4/6|c.171T>C|p.Phe57Phe|206/811|171/591|57/196|| 22 27021502 . C T . . ANN=T|synonymous_variant|LOW|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|4/6|c.216C>T|p.Gly72Gly|251/811|216/591|72/196|| 22 27021508 . T C . . ANN=C|synonymous_variant|LOW|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|4/6|c.222T>C|p.Tyr74Tyr|257/811|222/591|74/196|| 22 27021589 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|4/5|c.300+3A>G|||||| 22 27021611 . C A . . ANN=A|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|4/5|c.300+25C>A|||||| 22 27021614 . G A . . ANN=A|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|4/5|c.300+28G>A|||||| 22 27024258 . C T . . ANN=T|missense_variant|MODERATE|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|5/6|c.307C>T|p.Arg103Cys|342/811|307/591|103/196|| 22 27024275 . A T . . ANN=T|synonymous_variant|LOW|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|5/6|c.324A>T|p.Thr108Thr|359/811|324/591|108/196|| 22 27024296 . C T . . ANN=T|synonymous_variant|LOW|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|5/6|c.345C>T|p.Phe115Phe|380/811|345/591|115/196|| 22 27024442 . G C . . ANN=C|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|5/5|c.443+48G>C|||||| 22 27026286 . G A . . ANN=A|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|5/5|c.444-18G>A|||||| 22 27026290 . T C . . ANN=C|intron_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|5/5|c.444-14T>C|||||| 22 27026325 . G A . . ANN=A|synonymous_variant|LOW|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|6/6|c.465G>A|p.Pro155Pro|500/811|465/591|155/196|| 22 27026487 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|CRYBA4|CRYBA4|transcript|NM_001886.2|Coding|6/6|c.*36A>G|||||36| 22 28146947 . C T . . ANN=T|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|2/2|c.3919G>A|p.Asp1307Asn|4874/7556|3919/3963|1307/1320|| 22 28192719 . G T . . ANN=T|intron_variant|MODIFIER|MN1|MN1|transcript|NM_002430.2|Coding|1/1|c.3781+32C>A|||||| 22 28192805 . TGTC T . . ANN=T|inframe_deletion|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.3724_3726delGAC|p.Asp1242del|4681/7556|3724/3963|1242/1320|| 22 28192982 . C G . . ANN=G|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.3550G>C|p.Glu1184Gln|4505/7556|3550/3963|1184/1320|| 22 28193097 . C T . . ANN=T|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.3435G>A|p.Pro1145Pro|4390/7556|3435/3963|1145/1320|| 22 28193245 . G A . . ANN=A|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.3287C>T|p.Pro1096Leu|4242/7556|3287/3963|1096/1320|| 22 28193262 . G A . . ANN=A|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.3270C>T|p.Gly1090Gly|4225/7556|3270/3963|1090/1320|| 22 28193448 . C T . . ANN=T|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.3084G>A|p.Leu1028Leu|4039/7556|3084/3963|1028/1320|| 22 28193458 . A G . . ANN=G|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.3074T>C|p.Ile1025Thr|4029/7556|3074/3963|1025/1320|| 22 28193591 . C A . . ANN=A|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.2941G>T|p.Ala981Ser|3896/7556|2941/3963|981/1320|| 22 28193715 . G A . . ANN=A|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.2817C>T|p.Gly939Gly|3772/7556|2817/3963|939/1320|| 22 28194663 . C A . . ANN=A|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.1869G>T|p.Pro623Pro|2824/7556|1869/3963|623/1320|| 22 28194747 . C T . . ANN=T|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.1785G>A|p.Val595Val|2740/7556|1785/3963|595/1320|| 22 28194880 . CGCT C . . ANN=C|disruptive_inframe_deletion|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.1649_1651delAGC|p.Gln550del|2606/7556|1649/3963|550/1320|| 22 28194933 . TTGC T . . ANN=T|disruptive_inframe_deletion|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.1596_1598delGCA|p.Gln533del|2553/7556|1596/3963|532/1320|| 22 28195186 . G C . . ANN=C|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.1346C>G|p.Pro449Arg|2301/7556|1346/3963|449/1320|| 22 28195332 . C T . . ANN=T|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.1200G>A|p.Leu400Leu|2155/7556|1200/3963|400/1320|| 22 28195386 . C A . . ANN=A|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.1146G>T|p.Gln382His|2101/7556|1146/3963|382/1320|| 22 28195473 . C T . . ANN=T|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.1059G>A|p.Pro353Pro|2014/7556|1059/3963|353/1320|| 22 28195715 . C A . . ANN=A|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.817G>T|p.Ala273Ser|1772/7556|817/3963|273/1320|| 22 28195977 . G T . . ANN=T|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.555C>A|p.Ala185Ala|1510/7556|555/3963|185/1320|| 22 28196205 . C T . . ANN=T|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.327G>A|p.Gln109Gln|1282/7556|327/3963|109/1320|| 22 28196225 . C A . . ANN=A|stop_gained|HIGH|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.307G>T|p.Gly103*|1262/7556|307/3963|103/1320||;LOF=(MN1|MN1|1|1.00);NMD=(MN1|MN1|1|1.00) 22 28196226 . C G . . ANN=G|synonymous_variant|LOW|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.306G>C|p.Pro102Pro|1261/7556|306/3963|102/1320|| 22 28196248 . T C . . ANN=C|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.284A>G|p.Gln95Arg|1239/7556|284/3963|95/1320|| 22 28196290 . C G . . ANN=G|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.242G>C|p.Gly81Ala|1197/7556|242/3963|81/1320|| 22 28196476 . C T . . ANN=T|missense_variant|MODERATE|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.56G>A|p.Gly19Asp|1011/7556|56/3963|19/1320|| 22 28196548 . AG A . . ANN=A|5_prime_UTR_variant|MODIFIER|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.-18delC|||||18| 22 28196550 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MN1|MN1|transcript|NM_002430.2|Coding|1/2|c.-19C>T|||||19| 22 28256235 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|8/11|c.541-6A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|8/10|c.535-6A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|PITPNB|transcript|NM_012399.4|Coding|8/11|c.535-6A>G|||||| 22 28269716 . C T . . ANN=T|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|8/11|c.540+10G>A||||||,T|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|8/10|c.534+10G>A||||||,T|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_012399.4|Coding|8/11|c.534+10G>A|||||| 22 28269798 . G A . . ANN=A|synonymous_variant|LOW|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|8/12|c.468C>T|p.Tyr156Tyr|555/2942|468/822|156/273||,A|synonymous_variant|LOW|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|8/11|c.462C>T|p.Tyr154Tyr|577/2878|462/819|154/272||,A|synonymous_variant|LOW|PITPNB|PITPNB|transcript|NM_012399.4|Coding|8/12|c.462C>T|p.Tyr154Tyr|577/2964|462/816|154/271|| 22 28290521 . A C . . ANN=C|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|7/11|c.462+22T>G||||||,C|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|7/10|c.456+22T>G||||||,C|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_012399.4|Coding|7/11|c.456+22T>G|||||| 22 28292528 . G A . . ANN=A|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|6/11|c.378+12C>T||||||,A|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|6/10|c.372+12C>T||||||,A|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_012399.4|Coding|6/11|c.372+12C>T|||||| 22 28293069 . A G . . ANN=G|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|5/11|c.303+49T>C||||||,G|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|5/10|c.297+49T>C||||||,G|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_012399.4|Coding|5/11|c.297+49T>C|||||| 22 28306905 . T TAA . . ANN=TAA|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|3/11|c.203+46_203+47insTT||||||,TAA|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|3/10|c.197+46_197+47insTT||||||,TAA|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_012399.4|Coding|3/11|c.197+46_197+47insTT|||||| 22 28306930 . G A . . ANN=A|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|3/11|c.203+22C>T||||||,A|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|3/10|c.197+22C>T||||||,A|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_012399.4|Coding|3/11|c.197+22C>T|||||| 22 28306948 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|3/11|c.203+4A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|3/10|c.197+4A>G||||||,C|splice_region_variant&intron_variant|LOW|PITPNB|PITPNB|transcript|NM_012399.4|Coding|3/11|c.197+4A>G|||||| 22 28307000 . T G . . ANN=G|missense_variant|MODERATE|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|3/12|c.155A>C|p.Lys52Thr|242/2942|155/822|52/273||,G|missense_variant|MODERATE|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|3/11|c.149A>C|p.Lys50Thr|264/2878|149/819|50/272||,G|missense_variant|MODERATE|PITPNB|PITPNB|transcript|NM_012399.4|Coding|3/12|c.149A>C|p.Lys50Thr|264/2964|149/816|50/271|| 22 28310364 . A G . . ANN=G|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284278.1|Coding|1/11|c.27-29T>C||||||,G|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_001284277.1|Coding|1/10|c.21-29T>C||||||,G|intron_variant|MODIFIER|PITPNB|PITPNB|transcript|NM_012399.4|Coding|1/11|c.21-29T>C|||||| 22 29091147 . A C . . ANN=C|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|13/16|c.1472T>G|p.Ile491Ser|1544/1987|1472/1761|491/586||,C|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|13/16|c.680T>G|p.Ile227Ser|1529/1972|680/969|227/322||,C|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|12/15|c.1343T>G|p.Ile448Ser|1415/1858|1343/1632|448/543||,C|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|11/14|c.1256T>G|p.Ile419Ser|1328/1771|1256/1545|419/514|| 22 29091803 . C T . . ANN=T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|12/16|c.1283G>A|p.Cys428Tyr|1355/1987|1283/1761|428/586||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|12/16|c.491G>A|p.Cys164Tyr|1340/1972|491/969|164/322||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|11/15|c.1154G>A|p.Cys385Tyr|1226/1858|1154/1632|385/543||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|10/14|c.1067G>A|p.Cys356Tyr|1139/1771|1067/1545|356/514|| 22 29091856 . AG A . . ANN=A|frameshift_variant|HIGH|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|12/16|c.1229delC|p.Thr410fs|1301/1987|1229/1761|410/586||,A|frameshift_variant|HIGH|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|12/16|c.437delC|p.Thr146fs|1286/1972|437/969|146/322||,A|frameshift_variant|HIGH|CHEK2|CHEK2|transcript|NM_007194.3|Coding|11/15|c.1100delC|p.Thr367fs|1172/1858|1100/1632|367/543||,A|frameshift_variant|HIGH|CHEK2|CHEK2|transcript|NM_145862.2|Coding|10/14|c.1013delC|p.Thr338fs|1085/1771|1013/1545|338/514||;LOF=(CHEK2|CHEK2|4|1.00) 22 29092870 . C T . . ANN=T|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|11/15|c.1224+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|11/15|c.432+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|10/14|c.1095+19G>A||||||,T|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|9/13|c.1009-1009G>A|||||| 22 29095813 . G A . . ANN=A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|10/15|c.1137+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|10/15|c.345+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|9/14|c.1008+13C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|9/13|c.1008+13C>T|||||| 22 29095818 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|10/15|c.1137+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|10/15|c.345+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_007194.3|Coding|9/14|c.1008+8A>G||||||,C|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_145862.2|Coding|9/13|c.1008+8A>G|||||| 22 29099571 . A G . . ANN=G|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|8/15|c.976-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|8/15|c.184-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|7/14|c.847-17T>C||||||,G|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|7/13|c.847-17T>C|||||| 22 29105959 . A G . . ANN=G|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|8/15|c.975+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|8/15|c.183+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|7/14|c.846+35T>C||||||,G|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|7/13|c.846+35T>C|||||| 22 29105977 . CAT C . . ANN=C|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|8/15|c.975+15_975+16delAT||||||,C|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|8/15|c.183+15_183+16delAT||||||,C|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|7/14|c.846+15_846+16delAT||||||,C|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|7/13|c.846+15_846+16delAT|||||| 22 29106058 . C T . . ANN=T|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|7/15|c.922-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|7/15|c.130-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|6/14|c.793-11G>A||||||,T|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|6/13|c.793-11G>A|||||| 22 29106075 . T A . . ANN=A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|7/15|c.922-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|7/15|c.130-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|6/14|c.793-28A>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|6/13|c.793-28A>T|||||| 22 29107858 . G A . . ANN=A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|7/15|c.921+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|7/15|c.129+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|6/14|c.792+39C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|6/13|c.792+39C>T|||||| 22 29115403 . G C . . ANN=C|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|6/16|c.792C>G|p.Ile264Met|864/1987|792/1761|264/586||,C|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|5/15|c.663C>G|p.Ile221Met|735/1858|663/1632|221/543||,C|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|5/14|c.663C>G|p.Ile221Met|735/1771|663/1545|221/514||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|6/16|c.-1C>G||||||,C|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|6/16|c.-1C>G|||||1| 22 29115487 . G A . . ANN=A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|5/15|c.722-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|5/15|c.-71-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|4/14|c.593-14C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|4/13|c.593-14C>T|||||| 22 29120956 . T C . . ANN=C|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|5/15|c.721+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|4/15|c.-186+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|4/14|c.592+9A>G||||||,C|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|4/13|c.592+9A>G|||||| 22 29120980 . G A . . ANN=A|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|5/16|c.706C>T|p.Leu236Leu|778/1987|706/1761|236/586||,A|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_007194.3|Coding|4/15|c.577C>T|p.Leu193Leu|649/1858|577/1632|193/543||,A|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_145862.2|Coding|4/14|c.577C>T|p.Leu193Leu|649/1771|577/1545|193/514||,A|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|4/16|c.-201C>T|||||5578| 22 29121018 . C T . . ANN=T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|5/16|c.668G>A|p.Arg223His|740/1987|668/1761|223/586||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|4/15|c.539G>A|p.Arg180His|611/1858|539/1632|180/543||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|4/14|c.539G>A|p.Arg180His|611/1771|539/1545|180/514||,T|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|4/16|c.-239G>A|||||5616| 22 29121019 . G A . . ANN=A|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|5/16|c.667C>T|p.Arg223Cys|739/1987|667/1761|223/586||,A|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|4/15|c.538C>T|p.Arg180Cys|610/1858|538/1632|180/543||,A|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|4/14|c.538C>T|p.Arg180Cys|610/1771|538/1545|180/514||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|4/16|c.-240C>T||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|4/16|c.-240C>T|||||5617| 22 29121087 . A G . . ANN=G|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|5/16|c.599T>C|p.Ile200Thr|671/1987|599/1761|200/586||,G|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|4/15|c.470T>C|p.Ile157Thr|542/1858|470/1632|157/543||,G|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|4/14|c.470T>C|p.Ile157Thr|542/1771|470/1545|157/514||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|4/16|c.-308T>C||||||,G|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|4/16|c.-308T>C|||||5685| 22 29121207 . G A . . ANN=A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|4/15|c.573+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|3/15|c.-334+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|3/14|c.444+24C>T||||||,A|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|3/13|c.444+24C>T|||||| 22 29121226 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|4/15|c.573+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|3/15|c.-334+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_007194.3|Coding|3/14|c.444+5G>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_145862.2|Coding|3/13|c.444+5G>A|||||| 22 29121294 . T C . . ANN=C|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|4/16|c.510A>G|p.Glu170Glu|582/1987|510/1761|170/586||,C|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_007194.3|Coding|3/15|c.381A>G|p.Glu127Glu|453/1858|381/1632|127/543||,C|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_145862.2|Coding|3/14|c.381A>G|p.Glu127Glu|453/1771|381/1545|127/514||,C|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|3/16|c.-397A>G|||||5892| 22 29121360 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|3/15|c.449-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|2/15|c.-458-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_007194.3|Coding|2/14|c.320-5T>A||||||,T|splice_region_variant&intron_variant|LOW|CHEK2|CHEK2|transcript|NM_145862.2|Coding|2/13|c.320-5T>A|||||| 22 29130347 . G GT . . ANN=GT|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|2/15|c.319+43_319+44insA||||||,GT|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|2/15|c.-459+43_-459+44insA||||||,GT|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_007194.3|Coding|2/14|c.319+43_319+44insA||||||,GT|intron_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_145862.2|Coding|2/13|c.319+43_319+44insA|||||| 22 29130456 . G A . . ANN=A|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|2/16|c.254C>T|p.Pro85Leu|326/1987|254/1761|85/586||,A|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|2/15|c.254C>T|p.Pro85Leu|326/1858|254/1632|85/543||,A|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|2/14|c.254C>T|p.Pro85Leu|326/1771|254/1545|85/514||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|2/16|c.-524C>T||||||,A|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|2/16|c.-524C>T|||||15054| 22 29130458 . T C . . ANN=C|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|2/16|c.252A>G|p.Glu84Glu|324/1987|252/1761|84/586||,C|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_007194.3|Coding|2/15|c.252A>G|p.Glu84Glu|324/1858|252/1632|84/543||,C|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_145862.2|Coding|2/14|c.252A>G|p.Glu84Glu|324/1771|252/1545|84/514||,C|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|2/16|c.-526A>G|||||15056| 22 29130637 . C T . . ANN=T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|2/16|c.73G>A|p.Val25Ile|145/1987|73/1761|25/586||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|2/15|c.73G>A|p.Val25Ile|145/1858|73/1632|25/543||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|2/14|c.73G>A|p.Val25Ile|145/1771|73/1545|25/514||,T|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|2/16|c.-705G>A|||||15235| 22 29130657 . C T . . ANN=T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|2/16|c.53G>A|p.Cys18Tyr|125/1987|53/1761|18/586||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_007194.3|Coding|2/15|c.53G>A|p.Cys18Tyr|125/1858|53/1632|18/543||,T|missense_variant|MODERATE|CHEK2|CHEK2|transcript|NM_145862.2|Coding|2/14|c.53G>A|p.Cys18Tyr|125/1771|53/1545|18/514||,T|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|2/16|c.-725G>A|||||15255| 22 29130695 . C T . . ANN=T|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_001005735.1|Coding|2/16|c.15G>A|p.Ser5Ser|87/1987|15/1761|5/586||,T|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_007194.3|Coding|2/15|c.15G>A|p.Ser5Ser|87/1858|15/1632|5/543||,T|synonymous_variant|LOW|CHEK2|CHEK2|transcript|NM_145862.2|Coding|2/14|c.15G>A|p.Ser5Ser|87/1771|15/1545|5/514||,T|5_prime_UTR_variant|MODIFIER|CHEK2|CHEK2|transcript|NM_001257387.1|Coding|2/16|c.-763G>A|||||15293| 22 29138115 . G A . . ANN=A|missense_variant|MODERATE|HSCB|HSCB|transcript|NM_172002.3|Coding|1/6|c.32G>A|p.Arg11Gln|73/1088|32/708|11/235|| 22 29138293 . T C . . ANN=C|synonymous_variant|LOW|HSCB|HSCB|transcript|NM_172002.3|Coding|1/6|c.210T>C|p.Thr70Thr|251/1088|210/708|70/235|| 22 29138301 . A G . . ANN=G|missense_variant|MODERATE|HSCB|HSCB|transcript|NM_172002.3|Coding|1/6|c.218A>G|p.Tyr73Cys|259/1088|218/708|73/235|| 22 29139897 . G A . . ANN=A|synonymous_variant|LOW|HSCB|HSCB|transcript|NM_172002.3|Coding|2/6|c.264G>A|p.Ala88Ala|305/1088|264/708|88/235|| 22 29139978 . G A . . ANN=A|intron_variant|MODIFIER|HSCB|HSCB|transcript|NM_172002.3|Coding|2/5|c.333+12G>A|||||| 22 29140559 . T C . . ANN=C|intron_variant|MODIFIER|HSCB|HSCB|transcript|NM_172002.3|Coding|2/5|c.334-44T>C|||||| 22 29140662 . C T . . ANN=T|synonymous_variant|LOW|HSCB|HSCB|transcript|NM_172002.3|Coding|3/6|c.393C>T|p.Leu131Leu|434/1088|393/708|131/235|| 22 29141917 . A G . . ANN=G|missense_variant|MODERATE|HSCB|HSCB|transcript|NM_172002.3|Coding|4/6|c.489A>G|p.Ile163Met|530/1088|489/708|163/235|| 22 29141927 . G T . . ANN=T|stop_gained|HIGH|HSCB|HSCB|transcript|NM_172002.3|Coding|4/6|c.499G>T|p.Glu167*|540/1088|499/708|167/235||;LOF=(HSCB|HSCB|1|1.00);NMD=(HSCB|HSCB|1|1.00) 22 29141930 . A C . . ANN=C|missense_variant|MODERATE|HSCB|HSCB|transcript|NM_172002.3|Coding|4/6|c.502A>C|p.Ile168Leu|543/1088|502/708|168/235|| 22 29142035 . T C . . ANN=C|intron_variant|MODIFIER|HSCB|HSCB|transcript|NM_172002.3|Coding|4/5|c.568+39T>C|||||| 22 29147195 . A G . . ANN=G|intron_variant|MODIFIER|HSCB|HSCB|transcript|NM_172002.3|Coding|4/5|c.569-34A>G|||||| 22 29147293 . A G . . ANN=G|intron_variant|MODIFIER|HSCB|HSCB|transcript|NM_172002.3|Coding|5/5|c.616+17A>G|||||| 22 29147323 . C T . . ANN=T|intron_variant|MODIFIER|HSCB|HSCB|transcript|NM_172002.3|Coding|5/5|c.616+47C>T|||||| 22 29153031 . A G . . ANN=G|intron_variant|MODIFIER|HSCB|HSCB|transcript|NM_172002.3|Coding|5/5|c.617-35A>G|||||| 22 29153049 . GTC G . . ANN=G|intron_variant|MODIFIER|HSCB|HSCB|transcript|NM_172002.3|Coding|5/5|c.617-16_617-15delTC|||||| 22 29169063 . G A . . ANN=A|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_173510.3|Coding|1/4|c.185+41G>A||||||,A|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|1/3|c.185+41G>A||||||,A|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|1/3|c.185+41G>A|||||| 22 29169681 . C G . . ANN=G|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_173510.3|Coding|1/4|c.186-32C>G||||||,G|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|1/3|c.185+659C>G||||||,G|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|1/3|c.186-32C>G||||||,G|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|1/4|c.-211-32C>G|||||| 22 29169709 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|CCDC117|CCDC117|transcript|NM_173510.3|Coding|1/4|c.186-4A>G||||||,G|splice_region_variant&intron_variant|LOW|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|1/3|c.186-4A>G||||||,G|splice_region_variant&intron_variant|LOW|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|1/4|c.-211-4A>G||||||,G|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|1/3|c.185+687A>G|||||| 22 29169720 . G GTTCAC . . ANN=TCACT|frameshift_variant|HIGH|CCDC117|CCDC117|transcript|NM_173510.3|Coding|2/5|c.195_199dupTCACT|p.Cys67fs|376/3991|200/840|67/279||INFO_REALIGN_3_PRIME,TCACT|frameshift_variant|HIGH|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/4|c.195_199dupTCACT|p.Cys67fs|376/3766|200/615|67/204||INFO_REALIGN_3_PRIME,TCACT|5_prime_UTR_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|2/5|c.-202_-198dupTCACT|||||7366|INFO_REALIGN_3_PRIME,TCACT|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|1/3|c.185+700_185+704dupTCACT||||||INFO_REALIGN_3_PRIME;LOF=(CCDC117|CCDC117|4|0.50) 22 29169729 . A G . . ANN=G|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_173510.3|Coding|2/5|c.202A>G|p.Lys68Glu|378/3991|202/840|68/279||,G|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/4|c.202A>G|p.Lys68Glu|378/3766|202/615|68/204||,G|5_prime_UTR_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|2/5|c.-195A>G|||||7364|,G|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|1/3|c.185+707A>G|||||| 22 29169761 . T G . . ANN=G|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_173510.3|Coding|2/5|c.234T>G|p.Asp78Glu|410/3991|234/840|78/279||,G|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/4|c.234T>G|p.Asp78Glu|410/3766|234/615|78/204||,G|5_prime_UTR_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|2/5|c.-163T>G|||||7332|,G|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|1/3|c.185+739T>G|||||| 22 29169810 . T C . . ANN=C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_173510.3|Coding|2/4|c.239+44T>C||||||,C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|1/3|c.185+788T>C||||||,C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/3|c.239+44T>C||||||,C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|2/4|c.-158+44T>C|||||| 22 29176976 . T C . . ANN=C|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_173510.3|Coding|3/5|c.280T>C|p.Cys94Arg|456/3991|280/840|94/279||,C|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|2/4|c.226T>C|p.Cys76Arg|402/3937|226/786|76/261||,C|5_prime_UTR_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|3/5|c.-117T>C|||||117|,C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/3|c.240-2520T>C|||||| 22 29177074 . A G . . ANN=G|synonymous_variant|LOW|CCDC117|CCDC117|transcript|NM_173510.3|Coding|3/5|c.378A>G|p.Leu126Leu|554/3991|378/840|126/279||,G|synonymous_variant|LOW|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|2/4|c.324A>G|p.Leu108Leu|500/3937|324/786|108/261||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|3/5|c.-19A>G||||||,G|5_prime_UTR_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|3/5|c.-19A>G|||||19|,G|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/3|c.240-2422A>G|||||| 22 29177136 . G C . . ANN=C|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_173510.3|Coding|3/5|c.440G>C|p.Arg147Thr|616/3991|440/840|147/279||,C|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|2/4|c.386G>C|p.Arg129Thr|562/3937|386/786|129/261||,C|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|3/5|c.44G>C|p.Arg15Thr|342/3717|44/444|15/147||,C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/3|c.240-2360G>C|||||| 22 29177200 . C T . . ANN=T|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_173510.3|Coding|3/4|c.464+40C>T||||||,T|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|2/3|c.410+40C>T||||||,T|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/3|c.240-2296C>T||||||,T|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|3/4|c.68+40C>T|||||| 22 29179482 . CTTAA C . . ANN=C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_173510.3|Coding|3/4|c.465-13_465-10delTTAA||||||,C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|2/3|c.411-13_411-10delTTAA||||||,C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|2/3|c.240-13_240-10delTTAA||||||,C|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|3/4|c.69-13_69-10delTTAA|||||| 22 29179647 . C T . . ANN=T|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_173510.3|Coding|4/4|c.602+14C>T||||||,T|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|3/3|c.548+14C>T||||||,T|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|3/3|c.377+14C>T||||||,T|intron_variant|MODIFIER|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|4/4|c.206+14C>T|||||| 22 29182070 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CCDC117|CCDC117|transcript|NM_173510.3|Coding|4/4|c.603-7G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|3/3|c.549-7G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|3/3|c.378-7G>C||||||,C|splice_region_variant&intron_variant|LOW|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|4/4|c.207-7G>C|||||| 22 29182147 . T A . . ANN=A|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_173510.3|Coding|5/5|c.673T>A|p.Ser225Thr|849/3991|673/840|225/279||,A|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|4/4|c.619T>A|p.Ser207Thr|795/3937|619/786|207/261||,A|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|4/4|c.448T>A|p.Ser150Thr|624/3766|448/615|150/204||,A|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|5/5|c.277T>A|p.Ser93Thr|575/3717|277/444|93/147|| 22 29182169 . C T . . ANN=T|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_173510.3|Coding|5/5|c.695C>T|p.Thr232Ile|871/3991|695/840|232/279||,T|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|4/4|c.641C>T|p.Thr214Ile|817/3937|641/786|214/261||,T|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|4/4|c.470C>T|p.Thr157Ile|646/3766|470/615|157/204||,T|missense_variant|MODERATE|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|5/5|c.299C>T|p.Thr100Ile|597/3717|299/444|100/147|| 22 29182278 . G A . . ANN=A|synonymous_variant|LOW|CCDC117|CCDC117|transcript|NM_173510.3|Coding|5/5|c.804G>A|p.Glu268Glu|980/3991|804/840|268/279||,A|synonymous_variant|LOW|CCDC117|CCDC117|transcript|NM_001284263.1|Coding|4/4|c.750G>A|p.Glu250Glu|926/3937|750/786|250/261||,A|synonymous_variant|LOW|CCDC117|CCDC117|transcript|NM_001284264.1|Coding|4/4|c.579G>A|p.Glu193Glu|755/3766|579/615|193/204||,A|synonymous_variant|LOW|CCDC117|CCDC117|transcript|NM_001284265.1|Coding|5/5|c.408G>A|p.Glu136Glu|706/3717|408/444|136/147|| 22 29191576 . C A . . ANN=A|missense_variant|MODERATE|XBP1|XBP1|transcript|NM_001079539.1|Coding|6/6|c.718G>T|p.Val240Leu|766/1794|718/1131|240/376||,A|missense_variant|MODERATE|XBP1|XBP1|transcript|NM_005080.3|Coding|5/5|c.744G>T|p.Gln248His|792/1820|744/786|248/261|| 22 29191668 . T C . . ANN=C|missense_variant|MODERATE|XBP1|XBP1|transcript|NM_001079539.1|Coding|6/6|c.626A>G|p.Lys209Arg|674/1794|626/1131|209/376||,C|missense_variant|MODERATE|XBP1|XBP1|transcript|NM_005080.3|Coding|5/5|c.652A>G|p.Asn218Asp|700/1820|652/786|218/261|| 22 29191998 . G A . . ANN=A|intron_variant|MODIFIER|XBP1|XBP1|transcript|NM_001079539.1|Coding|5/5|c.573+37C>T||||||,A|intron_variant|MODIFIER|XBP1|XBP1|transcript|NM_005080.3|Coding|4/4|c.599+37C>T|||||| 22 29192019 . T A . . ANN=A|intron_variant|MODIFIER|XBP1|XBP1|transcript|NM_001079539.1|Coding|5/5|c.573+16A>T||||||,A|intron_variant|MODIFIER|XBP1|XBP1|transcript|NM_005080.3|Coding|4/4|c.599+16A>T|||||| 22 29192184 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|XBP1|XBP1|transcript|NM_001079539.1|Coding|3/5|c.454-4C>A||||||,T|splice_region_variant&intron_variant|LOW|XBP1|XBP1|transcript|NM_005080.3|Coding|3/4|c.454-4C>A|||||| 22 29195174 . A G . . ANN=G|intron_variant|MODIFIER|XBP1|XBP1|transcript|NM_001079539.1|Coding|1/5|c.228-33T>C||||||,G|intron_variant|MODIFIER|XBP1|XBP1|transcript|NM_005080.3|Coding|1/4|c.228-33T>C|||||| 22 29196274 . C A . . ANN=A|intron_variant|MODIFIER|XBP1|XBP1|transcript|NM_001079539.1|Coding|1/5|c.227+12G>T||||||,A|intron_variant|MODIFIER|XBP1|XBP1|transcript|NM_005080.3|Coding|1/4|c.227+12G>T|||||| 22 29196306 . G A . . ANN=A|synonymous_variant|LOW|XBP1|XBP1|transcript|NM_001079539.1|Coding|1/6|c.207C>T|p.Pro69Pro|255/1794|207/1131|69/376||,A|synonymous_variant|LOW|XBP1|XBP1|transcript|NM_005080.3|Coding|1/5|c.207C>T|p.Pro69Pro|255/1820|207/786|69/261|| 22 29196494 . C T . . ANN=T|missense_variant|MODERATE|XBP1|XBP1|transcript|NM_001079539.1|Coding|1/6|c.19G>A|p.Ala7Thr|67/1794|19/1131|7/376||,T|missense_variant|MODERATE|XBP1|XBP1|transcript|NM_005080.3|Coding|1/5|c.19G>A|p.Ala7Thr|67/1820|19/786|7/261|| 22 29196526 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|XBP1|XBP1|transcript|NM_001079539.1|Coding|1/6|c.-14C>T|||||14|,A|5_prime_UTR_variant|MODIFIER|XBP1|XBP1|transcript|NM_005080.3|Coding|1/5|c.-14C>T|||||14| 22 29196534 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|XBP1|XBP1|transcript|NM_001079539.1|Coding|1/6|c.-22G>T|||||22|,A|5_prime_UTR_variant|MODIFIER|XBP1|XBP1|transcript|NM_005080.3|Coding|1/5|c.-22G>T|||||22| 22 29383081 . A G . . ANN=G|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|2/9|c.318A>G|p.Leu106Leu|318/6677|318/2811|106/936||,G|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|2/9|c.18A>G|p.Leu6Leu|111/6470|18/2511|6/836|| 22 29383193 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|2/8|c.426+4A>C||||||,C|splice_region_variant&intron_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|2/8|c.126+4A>C|||||| 22 29383196 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|2/8|c.426+7A>G||||||,G|splice_region_variant&intron_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|2/8|c.126+7A>G|||||| 22 29438603 . G T . . ANN=T|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|3/8|c.501+46G>T||||||,T|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|3/8|c.201+46G>T|||||| 22 29439452 . G A . . ANN=A|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|4/8|c.633+34G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|4/8|c.333+34G>A|||||| 22 29440848 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|5/9|c.714C>T|p.Val238Val|714/6677|714/2811|238/936||,T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|5/9|c.414C>T|p.Val138Val|507/6470|414/2511|138/836|| 22 29440901 . G A . . ANN=A|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|5/8|c.744+23G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|5/8|c.444+23G>A|||||| 22 29442666 . G A . . ANN=A|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|5/8|c.745-38G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|5/8|c.445-38G>A|||||| 22 29444336 . G A . . ANN=A|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|6/8|c.913-41G>A||||||,A|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|6/8|c.613-41G>A|||||| 22 29444368 . C T . . ANN=T|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|6/8|c.913-9C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|6/8|c.613-9C>T|||||| 22 29444445 . C A . . ANN=A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|7/9|c.981C>A|p.His327Gln|981/6677|981/2811|327/936||,A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|7/9|c.681C>A|p.His227Gln|774/6470|681/2511|227/836|| 22 29445171 . C T . . ANN=T|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|7/8|c.1016-14C>T||||||,T|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|7/8|c.716-14C>T|||||| 22 29445258 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.1089C>T|p.Thr363Thr|1089/6677|1089/2811|363/936||,T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.789C>T|p.Thr263Thr|882/6470|789/2511|263/836|| 22 29445468 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.1299C>T|p.Cys433Cys|1299/6677|1299/2811|433/936||,T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.999C>T|p.Cys333Cys|1092/6470|999/2511|333/836|| 22 29445676 . G A . . ANN=A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.1507G>A|p.Gly503Ser|1507/6677|1507/2811|503/936||,A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.1207G>A|p.Gly403Ser|1300/6470|1207/2511|403/836|| 22 29445841 . G A . . ANN=A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.1672G>A|p.Gly558Ser|1672/6677|1672/2811|558/936||,A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.1372G>A|p.Gly458Ser|1465/6470|1372/2511|458/836|| 22 29445906 . G A . . ANN=A|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.1737G>A|p.Val579Val|1737/6677|1737/2811|579/936||,A|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.1437G>A|p.Val479Val|1530/6470|1437/2511|479/836|| 22 29446059 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.1890C>T|p.Pro630Pro|1890/6677|1890/2811|630/936||,T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.1590C>T|p.Pro530Pro|1683/6470|1590/2511|530/836|| 22 29446077 . G C . . ANN=C|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.1908G>C|p.Val636Val|1908/6677|1908/2811|636/936||,C|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.1608G>C|p.Val536Val|1701/6470|1608/2511|536/836|| 22 29446367 . T C . . ANN=C|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2198T>C|p.Leu733Ser|2198/6677|2198/2811|733/936||,C|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.1898T>C|p.Leu633Ser|1991/6470|1898/2511|633/836|| 22 29446401 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2232C>T|p.Gly744Gly|2232/6677|2232/2811|744/936||,T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.1932C>T|p.Gly644Gly|2025/6470|1932/2511|644/836|| 22 29446403 . C T . . ANN=T|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2234C>T|p.Pro745Leu|2234/6677|2234/2811|745/936||,T|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.1934C>T|p.Pro645Leu|2027/6470|1934/2511|645/836|| 22 29446543 . G A . . ANN=A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2374G>A|p.Gly792Arg|2374/6677|2374/2811|792/936||,A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2074G>A|p.Gly692Arg|2167/6470|2074/2511|692/836|| 22 29446601 . C T . . ANN=T|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2432C>T|p.Thr811Ile|2432/6677|2432/2811|811/936||,T|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2132C>T|p.Thr711Ile|2225/6470|2132/2511|711/836|| 22 29446611 . A C . . ANN=C|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2442A>C|p.Pro814Pro|2442/6677|2442/2811|814/936||,C|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2142A>C|p.Pro714Pro|2235/6470|2142/2511|714/836|| 22 29446693 . C T . . ANN=T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2524C>T|p.Leu842Leu|2524/6677|2524/2811|842/936||,T|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2224C>T|p.Leu742Leu|2317/6470|2224/2511|742/836|| 22 29446695 . G A . . ANN=A|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2526G>A|p.Leu842Leu|2526/6677|2526/2811|842/936||,A|synonymous_variant|LOW|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2226G>A|p.Leu742Leu|2319/6470|2226/2511|742/836|| 22 29446787 . C G . . ANN=G|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2618C>G|p.Thr873Ser|2618/6677|2618/2811|873/936||,G|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2318C>G|p.Thr773Ser|2411/6470|2318/2511|773/836|| 22 29446801 . C G . . ANN=G|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2632C>G|p.Arg878Gly|2632/6677|2632/2811|878/936||,G|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2332C>G|p.Arg778Gly|2425/6470|2332/2511|778/836|| 22 29446886 . G A . . ANN=A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2717G>A|p.Ser906Asn|2717/6677|2717/2811|906/936||,A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2417G>A|p.Ser806Asn|2510/6470|2417/2511|806/836|| 22 29446903 . C A . . ANN=A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/9|c.2734C>A|p.Gln912Lys|2734/6677|2734/2811|912/936||,A|missense_variant|MODERATE|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/9|c.2434C>A|p.Gln812Lys|2527/6470|2434/2511|812/836|| 22 29446975 . T C . . ANN=C|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_001206998.1|Coding|8/8|c.2767+39T>C||||||,C|intron_variant|MODIFIER|ZNRF3|ZNRF3|transcript|NM_032173.3|Coding|8/8|c.2467+39T>C|||||| 22 29454778 . G A . . ANN=A|synonymous_variant|LOW|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.825C>T|p.His275His|952/1070|825/873|275/290|| 22 29454909 . G C . . ANN=C|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.694C>G|p.Pro232Ala|821/1070|694/873|232/290|| 22 29454948 . C T . . ANN=T|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.655G>A|p.Ala219Thr|782/1070|655/873|219/290|| 22 29454998 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.605C>T|p.Thr202Met|732/1070|605/873|202/290|| 22 29455017 . G A . . ANN=A|stop_gained|HIGH|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.586C>T|p.Gln196*|713/1070|586/873|196/290|| 22 29455048 . G T . . ANN=T|synonymous_variant|LOW|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.555C>A|p.Gly185Gly|682/1070|555/873|185/290|| 22 29455058 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.545C>T|p.Ala182Val|672/1070|545/873|182/290|| 22 29455084 . C T . . ANN=T|synonymous_variant|LOW|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.519G>A|p.Ala173Ala|646/1070|519/873|173/290|| 22 29455139 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|3/3|c.464C>T|p.Thr155Ile|591/1070|464/873|155/290|| 22 29456360 . C T . . ANN=T|intron_variant|MODIFIER|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/2|c.432+43G>A|||||| 22 29456407 . C G . . ANN=G|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.428G>C|p.Arg143Thr|555/1070|428/873|143/290|| 22 29456467 . T C . . ANN=C|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.368A>G|p.Asn123Ser|495/1070|368/873|123/290|| 22 29456529 . C T . . ANN=T|synonymous_variant|LOW|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.306G>A|p.Ser102Ser|433/1070|306/873|102/290|| 22 29456545 . C G . . ANN=G|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.290G>C|p.Gly97Ala|417/1070|290/873|97/290|| 22 29456671 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.164C>T|p.Ala55Val|291/1070|164/873|55/290|| 22 29456699 . A G . . ANN=G|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.136T>C|p.Cys46Arg|263/1070|136/873|46/290|| 22 29456731 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.104C>T|p.Pro35Leu|231/1070|104/873|35/290|| 22 29456733 . T C . . ANN=C|synonymous_variant|LOW|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.102A>G|p.Ser34Ser|229/1070|102/873|34/290|| 22 29456786 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.49C>T|p.Leu17Phe|176/1070|49/873|17/290|| 22 29456796 . A G . . ANN=G|synonymous_variant|LOW|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.39T>C|p.Pro13Pro|166/1070|39/873|13/290|| 22 29456797 . G A . . ANN=A|missense_variant|MODERATE|C22orf31|C22orf31|transcript|NM_015370.1|Coding|2/3|c.38C>T|p.Pro13Leu|165/1070|38/873|13/290|| 22 29456871 . C T . . ANN=T|intron_variant|MODIFIER|C22orf31|C22orf31|transcript|NM_015370.1|Coding|1/2|c.4-40G>A|||||| 22 29457808 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|C22orf31|C22orf31|transcript|NM_015370.1|Coding|1/3|c.-28C>G|||||28| 22 29469130 . A C . . ANN=C|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|1/10|c.12A>C|p.Pro4Pro|65/2759|12/1479|4/492||,C|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|1/9|c.12A>C|p.Pro4Pro|65/6138|12/1377|4/458|| 22 29469262 . C G . . ANN=G|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|1/9|c.97+47C>G||||||,G|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|1/8|c.97+47C>G|||||| 22 29490246 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|2/10|c.98A>G|p.Glu33Gly|151/2759|98/1479|33/492||,G|missense_variant&splice_region_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|2/9|c.98A>G|p.Glu33Gly|151/6138|98/1377|33/458|| 22 29490261 . A G . . ANN=G|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|2/10|c.113A>G|p.Asn38Ser|166/2759|113/1479|38/492||,G|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|2/9|c.113A>G|p.Asn38Ser|166/6138|113/1377|38/458|| 22 29490378 . AG A . . ANN=|frameshift_variant|HIGH|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|2/10|c.236delG|p.Gly79fs|289/2759|236/1479|79/492||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|2/9|c.236delG|p.Gly79fs|289/6138|236/1377|79/458||INFO_REALIGN_3_PRIME;LOF=(KREMEN1|KREMEN1|2|1.00) 22 29490381 . G C . . ANN=C|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|2/10|c.233G>C|p.Gly78Ala|286/2759|233/1479|78/492||,C|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|2/9|c.233G>C|p.Gly78Ala|286/6138|233/1377|78/458|| 22 29490457 . CTCT C . . ANN=C|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|2/9|c.260+50_260+52delTCT||||||,C|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|2/8|c.260+50_260+52delTCT|||||| 22 29494985 . C T . . ANN=T|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|3/9|c.352+44C>T||||||,T|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|3/8|c.352+44C>T|||||| 22 29517463 . G T . . ANN=T|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|4/10|c.471G>T|p.Arg157Ser|524/2759|471/1479|157/492||,T|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|4/9|c.471G>T|p.Arg157Ser|524/6138|471/1377|157/458|| 22 29521226 . G A . . ANN=A|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|4/9|c.478-25G>A||||||,A|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|4/8|c.478-25G>A|||||| 22 29521228 . G C . . ANN=C|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|4/9|c.478-23G>C||||||,C|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|4/8|c.478-23G>C|||||| 22 29521292 . C T . . ANN=T|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|5/10|c.519C>T|p.Asn173Asn|572/2759|519/1479|173/492||,T|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|5/9|c.519C>T|p.Asn173Asn|572/6138|519/1377|173/458|| 22 29521440 . C T . . ANN=T|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|5/9|c.631+36C>T||||||,T|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|5/8|c.631+36C>T|||||| 22 29533437 . C T . . ANN=T|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|6/10|c.739C>T|p.Arg247Trp|792/2759|739/1479|247/492||,T|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|6/9|c.739C>T|p.Arg247Trp|792/6138|739/1377|247/458|| 22 29533499 . G A . . ANN=A|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|6/10|c.801G>A|p.Ala267Ala|854/2759|801/1479|267/492||,A|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|6/9|c.801G>A|p.Ala267Ala|854/6138|801/1377|267/458|| 22 29533536 . G A . . ANN=A|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|6/10|c.838G>A|p.Val280Ile|891/2759|838/1479|280/492||,A|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|6/9|c.838G>A|p.Val280Ile|891/6138|838/1377|280/458|| 22 29533551 . C T . . ANN=T|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|6/10|c.853C>T|p.His285Tyr|906/2759|853/1479|285/492||,T|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|6/9|c.853C>T|p.His285Tyr|906/6138|853/1377|285/458|| 22 29533553 . C T . . ANN=T|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|6/10|c.855C>T|p.His285His|908/2759|855/1479|285/492||,T|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|6/9|c.855C>T|p.His285His|908/6138|855/1377|285/458|| 22 29533572 . C G . . ANN=G|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|6/10|c.874C>G|p.Leu292Val|927/2759|874/1479|292/492||,G|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|6/9|c.874C>G|p.Leu292Val|927/6138|874/1377|292/458|| 22 29533687 . G C . . ANN=C|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|6/9|c.964+25G>C||||||,C|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|6/8|c.964+25G>C|||||| 22 29533703 . C A . . ANN=A|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|6/9|c.964+41C>A||||||,A|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|6/8|c.964+41C>A|||||| 22 29534621 . A G . . ANN=G|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|7/10|c.974A>G|p.Glu325Gly|1027/2759|974/1479|325/492||,G|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|7/9|c.974A>G|p.Glu325Gly|1027/6138|974/1377|325/458|| 22 29534635 . G A . . ANN=A|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|7/10|c.988G>A|p.Glu330Lys|1041/2759|988/1479|330/492||,A|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|7/9|c.988G>A|p.Glu330Lys|1041/6138|988/1377|330/458|| 22 29534659 . G T . . ANN=T|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|7/10|c.1012G>T|p.Val338Leu|1065/2759|1012/1479|338/492||,T|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|7/9|c.1012G>T|p.Val338Leu|1065/6138|1012/1377|338/458|| 22 29534664 . C T . . ANN=T|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|7/10|c.1017C>T|p.Ala339Ala|1070/2759|1017/1479|339/492||,T|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|7/9|c.1017C>T|p.Ala339Ala|1070/6138|1017/1377|339/458|| 22 29534832 . T C . . ANN=C|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|7/9|c.1174+11T>C||||||,C|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|7/8|c.1123+62T>C|||||| 22 29536238 . A G . . ANN=G|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|7/9|c.1175-32A>G||||||,G|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|7/8|c.1124-32A>G|||||| 22 29536343 . C T . . ANN=T|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|8/10|c.1248C>T|p.His416His|1301/2759|1248/1479|416/492||,T|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|8/9|c.1197C>T|p.His399His|1250/6138|1197/1377|399/458|| 22 29536383 . C T . . ANN=T|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|8/9|c.1259+29C>T||||||,T|intron_variant|MODIFIER|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|8/8|c.1208+29C>T|||||| 22 29537940 . G A . . ANN=A|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|9/10|c.1268G>A|p.Arg423His|1321/2759|1268/1479|423/492||,A|missense_variant|MODERATE|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|9/9|c.1217G>A|p.Arg406His|1270/6138|1217/1377|406/458|| 22 29537965 . G A . . ANN=A|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|9/10|c.1293G>A|p.Arg431Arg|1346/2759|1293/1479|431/492||,A|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|9/9|c.1242G>A|p.Arg414Arg|1295/6138|1242/1377|414/458|| 22 29537989 . G A . . ANN=A|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_032045.4|Coding|9/10|c.1317G>A|p.Ser439Ser|1370/2759|1317/1479|439/492||,A|synonymous_variant|LOW|KREMEN1|KREMEN1|transcript|NM_001039570.2|Coding|9/9|c.1266G>A|p.Ser422Ser|1319/6138|1266/1377|422/458|| 22 29602009 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|1/15|c.-19G>A|||||19|,A|5_prime_UTR_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|1/15|c.-19G>A|||||19| 22 29602136 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EMID1|EMID1|transcript|NM_133455.3|Coding|1/14|c.101+8C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|EMID1|transcript|NM_001267895.1|Coding|1/14|c.101+8C>T|||||| 22 29602159 . T C . . ANN=C|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|1/14|c.101+31T>C||||||,C|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|1/14|c.101+31T>C|||||| 22 29610881 . G A . . ANN=A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|1/14|c.102-34G>A||||||,A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|1/14|c.102-34G>A|||||| 22 29611019 . C T . . ANN=T|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|2/15|c.206C>T|p.Pro69Leu|333/2112|206/1332|69/443||,T|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|2/15|c.206C>T|p.Pro69Leu|333/2106|206/1326|69/441|| 22 29621128 . C G . . ANN=G|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|4/15|c.326C>G|p.Ala109Gly|453/2112|326/1332|109/443||,G|missense_variant&splice_region_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|4/15|c.320C>G|p.Ala107Gly|447/2106|320/1326|107/441|| 22 29621173 . G A . . ANN=A|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|4/15|c.371G>A|p.Arg124Gln|498/2112|371/1332|124/443||,A|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|4/15|c.365G>A|p.Arg122Gln|492/2106|365/1326|122/441|| 22 29621188 . G A . . ANN=A|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|4/15|c.386G>A|p.Arg129Gln|513/2112|386/1332|129/443||,A|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|4/15|c.380G>A|p.Arg127Gln|507/2106|380/1326|127/441|| 22 29621222 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|4/14|c.403+17C>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|4/14|c.397+17C>T|||||| 22 29627111 . G A . . ANN=A|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|6/15|c.568G>A|p.Gly190Arg|695/2112|568/1332|190/443||,A|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|6/15|c.562G>A|p.Gly188Arg|689/2106|562/1326|188/441|| 22 29627151 . C G . . ANN=G|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|6/14|c.586+22C>G||||||,G|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|6/14|c.580+22C>G|||||| 22 29627166 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|6/14|c.586+37C>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|6/14|c.580+37C>T|||||| 22 29627532 . G T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|6/14|c.587-50G>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|6/14|c.581-50G>T|||||| 22 29627536 . C G . . ANN=G|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|6/14|c.587-46C>G||||||,G|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|6/14|c.581-46C>G|||||| 22 29627567 . T C . . ANN=C|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|6/14|c.587-15T>C||||||,C|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|6/14|c.581-15T>C|||||| 22 29627577 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|EMID1|EMID1|transcript|NM_133455.3|Coding|6/14|c.587-5C>G||||||,G|splice_region_variant&intron_variant|LOW|EMID1|EMID1|transcript|NM_001267895.1|Coding|6/14|c.581-5C>G|||||| 22 29628228 . G A . . ANN=A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|7/14|c.677-17G>A||||||,A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|7/14|c.671-17G>A|||||| 22 29628260 . C G . . ANN=G|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|8/15|c.692C>G|p.Pro231Arg|819/2112|692/1332|231/443||,G|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|8/15|c.686C>G|p.Pro229Arg|813/2106|686/1326|229/441|| 22 29628283 . G C . . ANN=C|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|8/15|c.715G>C|p.Ala239Pro|842/2112|715/1332|239/443||,C|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|8/15|c.709G>C|p.Ala237Pro|836/2106|709/1326|237/441|| 22 29628412 . A G . . ANN=G|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|8/14|c.823+21A>G||||||,G|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|8/14|c.817+21A>G|||||| 22 29629375 . A G . . ANN=G|synonymous_variant|LOW|EMID1|EMID1|transcript|NM_133455.3|Coding|9/15|c.831A>G|p.Pro277Pro|958/2112|831/1332|277/443||,G|synonymous_variant|LOW|EMID1|EMID1|transcript|NM_001267895.1|Coding|9/15|c.825A>G|p.Pro275Pro|952/2106|825/1326|275/441|| 22 29629402 . C G . . ANN=G|synonymous_variant|LOW|EMID1|EMID1|transcript|NM_133455.3|Coding|9/15|c.858C>G|p.Thr286Thr|985/2112|858/1332|286/443||,G|synonymous_variant|LOW|EMID1|EMID1|transcript|NM_001267895.1|Coding|9/15|c.852C>G|p.Thr284Thr|979/2106|852/1326|284/441|| 22 29629432 . G A . . ANN=A|synonymous_variant|LOW|EMID1|EMID1|transcript|NM_133455.3|Coding|9/15|c.888G>A|p.Gly296Gly|1015/2112|888/1332|296/443||,A|synonymous_variant|LOW|EMID1|EMID1|transcript|NM_001267895.1|Coding|9/15|c.882G>A|p.Gly294Gly|1009/2106|882/1326|294/441|| 22 29629433 . C A . . ANN=A|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|9/15|c.889C>A|p.Pro297Thr|1016/2112|889/1332|297/443||,A|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|9/15|c.883C>A|p.Pro295Thr|1010/2106|883/1326|295/441|| 22 29629573 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|9/14|c.914-30C>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|9/14|c.908-30C>T|||||| 22 29629574 . G A . . ANN=A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|9/14|c.914-29G>A||||||,A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|9/14|c.908-29G>A|||||| 22 29629600 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EMID1|EMID1|transcript|NM_133455.3|Coding|9/14|c.914-3C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|EMID1|transcript|NM_001267895.1|Coding|9/14|c.908-3C>T|||||| 22 29629632 . G T . . ANN=T|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|10/15|c.943G>T|p.Val315Phe|1070/2112|943/1332|315/443||,T|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|10/15|c.937G>T|p.Val313Phe|1064/2106|937/1326|313/441|| 22 29630098 . A G . . ANN=G|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|10/14|c.967-28A>G||||||,G|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|10/14|c.961-28A>G|||||| 22 29630187 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|11/15|c.1028G>C|p.Arg343Thr|1155/2112|1028/1332|343/443||,C|missense_variant&splice_region_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|11/15|c.1022G>C|p.Arg341Thr|1149/2106|1022/1326|341/441|| 22 29630215 . G A . . ANN=A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|11/14|c.1029+27G>A||||||,A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|11/14|c.1023+27G>A|||||| 22 29630267 . G A . . ANN=A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|11/14|c.1030-27G>A||||||,A|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|11/14|c.1024-27G>A|||||| 22 29630269 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|11/14|c.1030-25C>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|11/14|c.1024-25C>T|||||| 22 29630275 . TCTC T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|11/14|c.1030-18_1030-16delCTC||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|11/14|c.1024-18_1024-16delCTC|||||| 22 29630300 . C T . . ANN=T|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|12/15|c.1036C>T|p.Arg346Cys|1163/2112|1036/1332|346/443||,T|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|12/15|c.1030C>T|p.Arg344Cys|1157/2106|1030/1326|344/441|| 22 29630337 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|12/15|c.1073G>A|p.Arg358Gln|1200/2112|1073/1332|358/443||,A|missense_variant&splice_region_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|12/15|c.1067G>A|p.Arg356Gln|1194/2106|1067/1326|356/441|| 22 29630349 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|12/14|c.1074+11C>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|12/14|c.1068+11C>T|||||| 22 29630359 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|12/14|c.1074+21C>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|12/14|c.1068+21C>T|||||| 22 29639484 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EMID1|EMID1|transcript|NM_133455.3|Coding|13/14|c.1119+6C>T||||||,T|splice_region_variant&intron_variant|LOW|EMID1|EMID1|transcript|NM_001267895.1|Coding|13/14|c.1113+6C>T|||||| 22 29650178 . T C . . ANN=C|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|13/14|c.1120-14T>C||||||,C|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|13/14|c.1114-14T>C|||||| 22 29650296 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|14/14|c.1204+20C>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|14/14|c.1198+20C>T|||||| 22 29654770 . C T . . ANN=T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|14/14|c.1205-36C>T||||||,T|intron_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|14/14|c.1199-36C>T|||||| 22 29654833 . C T . . ANN=T|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_133455.3|Coding|15/15|c.1232C>T|p.Pro411Leu|1359/2112|1232/1332|411/443||,T|missense_variant|MODERATE|EMID1|EMID1|transcript|NM_001267895.1|Coding|15/15|c.1226C>T|p.Pro409Leu|1353/2106|1226/1326|409/441|| 22 29654849 . C T . . ANN=T|synonymous_variant|LOW|EMID1|EMID1|transcript|NM_133455.3|Coding|15/15|c.1248C>T|p.Thr416Thr|1375/2112|1248/1332|416/443||,T|synonymous_variant|LOW|EMID1|EMID1|transcript|NM_001267895.1|Coding|15/15|c.1242C>T|p.Thr414Thr|1369/2106|1242/1326|414/441|| 22 29654946 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|EMID1|EMID1|transcript|NM_133455.3|Coding|15/15|c.*13C>T|||||13|,T|3_prime_UTR_variant|MODIFIER|EMID1|EMID1|transcript|NM_001267895.1|Coding|15/15|c.*13C>T|||||13| 22 29656145 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|7/7|c.1065C>T|p.Ala355Ala|1437/1738|1065/1161|355/386|| 22 29656159 . G A . . ANN=A|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|7/7|c.1051C>T|p.Arg351Cys|1423/1738|1051/1161|351/386|| 22 29656171 . C T . . ANN=T|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|7/7|c.1039G>A|p.Ala347Thr|1411/1738|1039/1161|347/386|| 22 29656209 . C T . . ANN=T|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|7/7|c.1001G>A|p.Arg334His|1373/1738|1001/1161|334/386|| 22 29656238 . G C . . ANN=C|intron_variant|MODIFIER|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|6/6|c.984-12C>G|||||| 22 29656240 . G A . . ANN=A|intron_variant|MODIFIER|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|6/6|c.984-14C>T|||||| 22 29656251 . G T . . ANN=T|intron_variant|MODIFIER|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|6/6|c.984-25C>A|||||| 22 29656253 . G A . . ANN=A|intron_variant|MODIFIER|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|6/6|c.984-27C>T|||||| 22 29656359 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|6/7|c.939C>T|p.Pro313Pro|1311/1738|939/1161|313/386|| 22 29656389 . G T . . ANN=T|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|6/7|c.909C>A|p.Ala303Ala|1281/1738|909/1161|303/386|| 22 29656431 . C T . . ANN=T|stop_gained|HIGH|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|6/7|c.867G>A|p.Trp289*|1239/1738|867/1161|289/386||;LOF=(RHBDD3|RHBDD3|1|1.00);NMD=(RHBDD3|RHBDD3|1|1.00) 22 29656568 . G C . . ANN=C|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|6/7|c.730C>G|p.Pro244Ala|1102/1738|730/1161|244/386|| 22 29656608 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|5/6|c.696-6C>T|||||| 22 29656697 . C A . . ANN=A|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|5/7|c.689G>T|p.Gly230Val|1061/1738|689/1161|230/386|| 22 29656706 . T C . . ANN=C|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|5/7|c.680A>G|p.His227Arg|1052/1738|680/1161|227/386|| 22 29656842 . C A . . ANN=A|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|5/7|c.544G>T|p.Ala182Ser|916/1738|544/1161|182/386|| 22 29659797 . C T . . ANN=T|intron_variant|MODIFIER|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/6|c.532+27G>A|||||| 22 29659830 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.526C>T|p.Leu176Leu|898/1738|526/1161|176/386|| 22 29659845 . C T . . ANN=T|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.511G>A|p.Gly171Ser|883/1738|511/1161|171/386|| 22 29659846 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.510C>T|p.Cys170Cys|882/1738|510/1161|170/386|| 22 29659878 . T G . . ANN=G|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.478A>C|p.Ser160Arg|850/1738|478/1161|160/386|| 22 29659951 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.405C>T|p.Arg135Arg|777/1738|405/1161|135/386|| 22 29659953 . G A . . ANN=A|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.403C>T|p.Arg135Cys|775/1738|403/1161|135/386|| 22 29659960 . C T . . ANN=T|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.396G>A|p.Glu132Glu|768/1738|396/1161|132/386|| 22 29659996 . T C . . ANN=C|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.360A>G|p.Gly120Gly|732/1738|360/1161|120/386|| 22 29660099 . G A . . ANN=A|missense_variant|MODERATE|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|4/7|c.257C>T|p.Thr86Met|629/1738|257/1161|86/386|| 22 29661507 . G A . . ANN=A|synonymous_variant|LOW|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|3/7|c.109C>T|p.Leu37Leu|481/1738|109/1161|37/386|| 22 29661652 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|RHBDD3|RHBDD3|transcript|NM_012265.1|Coding|3/7|c.-37A>G|||||37| 22 29664301 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|1/18|c.-25A>G|||||25|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|1/9|c.-25A>G|||||25|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|1/17|c.-25A>G|||||25|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|1/16|c.-25A>G|||||25|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|1/17|c.-25A>G|||||25| 22 29664307 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|1/18|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|1/9|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|1/17|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|1/16|c.-19C>G|||||19|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|1/17|c.-19C>G|||||19| 22 29664323 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|1/18|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|1/9|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|1/17|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|1/16|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|1/17|c.-3A>G|||||3| 22 29668189 . C T . . ANN=T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|1/17|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|1/8|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|1/16|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|1/15|c.14-16C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|1/16|c.14-16C>T|||||| 22 29668199 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|1/17|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|1/8|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|1/16|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|1/15|c.14-6C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|1/16|c.14-6C>T|||||| 22 29668215 . C T . . ANN=T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|2/18|c.24C>T|p.Thr8Thr|352/2678|24/1986|8/661||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|2/9|c.24C>T|p.Thr8Thr|352/1573|24/1065|8/354||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|2/17|c.24C>T|p.Thr8Thr|352/2660|24/1968|8/655||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|2/16|c.24C>T|p.Thr8Thr|352/2495|24/1803|8/600||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|2/17|c.24C>T|p.Thr8Thr|352/2663|24/1971|8/656|| 22 29668263 . G A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|2/17|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|2/8|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|2/16|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|2/15|c.50+22G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|2/16|c.50+22G>A|||||| 22 29668264 . T C . . ANN=C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|2/17|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|2/8|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|2/16|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|2/15|c.50+23T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|2/16|c.50+23T>C|||||| 22 29668432 . AATAATTAC A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|3/17|c.102+13_102+20delATAATTAC||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|3/8|c.102+13_102+20delATAATTAC||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|3/16|c.102+13_102+20delATAATTAC||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|3/15|c.102+13_102+20delATAATTAC||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|3/16|c.102+13_102+20delATAATTAC|||||| 22 29668433 . A G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|3/17|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|3/8|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|3/16|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|3/15|c.102+13A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|3/16|c.102+13A>G|||||| 22 29669693 . T C . . ANN=C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|3/17|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|3/8|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|3/16|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|3/15|c.103-37T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|3/16|c.103-37T>C|||||| 22 29669712 . C G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|3/17|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|3/8|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|3/16|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|3/15|c.103-18C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|3/16|c.103-18C>G|||||| 22 29669713 . G GT . . ANN=GT|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|3/17|c.103-17_103-16insT||||||,GT|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|3/8|c.103-17_103-16insT||||||,GT|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|3/16|c.103-17_103-16insT||||||,GT|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|3/15|c.103-17_103-16insT||||||,GT|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|3/16|c.103-17_103-16insT|||||| 22 29669885 . G A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|4/17|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|4/8|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|4/16|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|4/15|c.226+32G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|4/16|c.226+32G>A|||||| 22 29669901 . T C . . ANN=C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|4/17|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|4/8|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|4/16|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|4/15|c.226+48T>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|4/16|c.226+48T>C|||||| 22 29678394 . C G . . ANN=G|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_013986.3|Coding|7/18|c.447C>G|p.Asn149Lys|775/2678|447/1986|149/661||,G|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|6/9|c.429C>G|p.Asn143Lys|757/1573|429/1065|143/354||,G|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|6/17|c.429C>G|p.Asn143Lys|757/2660|429/1968|143/655||,G|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_005243.3|Coding|6/17|c.429C>G|p.Asn143Lys|757/2663|429/1971|143/656||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|5/15|c.413+4189C>G|||||| 22 29682903 . C G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|7/17|c.600-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|6/8|c.582-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|6/16|c.582-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|5/15|c.414-9C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|6/16|c.582-9C>G|||||| 22 29682930 . G A . . ANN=A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|8/18|c.618G>A|p.Pro206Pro|946/2678|618/1986|206/661||,A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|7/9|c.600G>A|p.Pro200Pro|928/1573|600/1065|200/354||,A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|7/17|c.600G>A|p.Pro200Pro|928/2660|600/1968|200/655||,A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|6/16|c.432G>A|p.Pro144Pro|760/2495|432/1803|144/600||,A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|7/17|c.600G>A|p.Pro200Pro|928/2663|600/1971|200/656|| 22 29683035 . G A . . ANN=A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|8/18|c.723G>A|p.Gln241Gln|1051/2678|723/1986|241/661||,A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|7/9|c.705G>A|p.Gln235Gln|1033/1573|705/1065|235/354||,A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|7/17|c.705G>A|p.Gln235Gln|1033/2660|705/1968|235/655||,A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|6/16|c.537G>A|p.Gln179Gln|865/2495|537/1803|179/600||,A|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|7/17|c.705G>A|p.Gln235Gln|1033/2663|705/1971|235/656|| 22 29683098 . A G . . ANN=G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|8/18|c.786A>G|p.Gln262Gln|1114/2678|786/1986|262/661||,G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|7/9|c.768A>G|p.Gln256Gln|1096/1573|768/1065|256/354||,G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|7/17|c.768A>G|p.Gln256Gln|1096/2660|768/1968|256/655||,G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|6/16|c.600A>G|p.Gln200Gln|928/2495|600/1803|200/600||,G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|7/17|c.768A>G|p.Gln256Gln|1096/2663|768/1971|256/656|| 22 29684676 . G A . . ANN=A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_013986.3|Coding|9/18|c.893G>A|p.Arg298Gln|1221/2678|893/1986|298/661||,A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163287.1|Coding|8/9|c.875G>A|p.Arg292Gln|1203/1573|875/1065|292/354||,A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|8/17|c.875G>A|p.Arg292Gln|1203/2660|875/1968|292/655||,A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|7/16|c.707G>A|p.Arg236Gln|1035/2495|707/1803|236/600||,A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_005243.3|Coding|8/17|c.875G>A|p.Arg292Gln|1203/2663|875/1971|292/656|| 22 29688208 . G A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|11/17|c.1060+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|10/16|c.1042+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|9/15|c.877+50G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|10/16|c.1045+50G>A|||||| 22 29688446 . A G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|11/17|c.1061-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|10/16|c.1043-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|9/15|c.878-31A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|10/16|c.1046-31A>G|||||| 22 29688460 . C G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|11/17|c.1061-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|10/16|c.1043-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|9/15|c.878-17C>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|10/16|c.1046-17C>G|||||| 22 29688598 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|12/17|c.1179+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|11/16|c.1161+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|10/15|c.996+3C>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|11/16|c.1164+3C>T|||||| 22 29688632 . T G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|12/17|c.1179+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|11/16|c.1161+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|10/15|c.996+37T>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|11/16|c.1164+37T>G|||||| 22 29692205 . C T . . ANN=T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|12/17|c.1180-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|11/16|c.1162-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|10/15|c.997-24C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|11/16|c.1165-24C>T|||||| 22 29692240 . A G . . ANN=G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|13/18|c.1191A>G|p.Arg397Arg|1519/2678|1191/1986|397/661||,G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|12/17|c.1173A>G|p.Arg391Arg|1501/2660|1173/1968|391/655||,G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|11/16|c.1008A>G|p.Arg336Arg|1336/2495|1008/1803|336/600||,G|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|12/17|c.1176A>G|p.Arg392Arg|1504/2663|1176/1971|392/656|| 22 29692328 . A G . . ANN=G|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_013986.3|Coding|13/18|c.1279A>G|p.Thr427Ala|1607/2678|1279/1986|427/661||,G|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|12/17|c.1261A>G|p.Thr421Ala|1589/2660|1261/1968|421/655||,G|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|11/16|c.1096A>G|p.Thr366Ala|1424/2495|1096/1803|366/600||,G|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_005243.3|Coding|12/17|c.1264A>G|p.Thr422Ala|1592/2663|1264/1971|422/656|| 22 29692364 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|13/17|c.1309+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|12/16|c.1291+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|11/15|c.1126+6A>T||||||,T|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|12/16|c.1294+6A>T|||||| 22 29693776 . G A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|13/17|c.1310-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|12/16|c.1292-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|11/15|c.1127-41G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|12/16|c.1295-41G>A|||||| 22 29693794 . G C . . ANN=C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|13/17|c.1310-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|12/16|c.1292-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|11/15|c.1127-23G>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|12/16|c.1295-23G>C|||||| 22 29693915 . G A . . ANN=A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_013986.3|Coding|14/18|c.1408G>A|p.Gly470Ser|1736/2678|1408/1986|470/661||,A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|13/17|c.1390G>A|p.Gly464Ser|1718/2660|1390/1968|464/655||,A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|12/16|c.1225G>A|p.Gly409Ser|1553/2495|1225/1803|409/600||,A|missense_variant|MODERATE|EWSR1|EWSR1|transcript|NM_005243.3|Coding|13/17|c.1393G>A|p.Gly465Ser|1721/2663|1393/1971|465/656|| 22 29693954 . C T . . ANN=T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|14/17|c.1432+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|13/16|c.1414+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|12/15|c.1249+15C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|13/16|c.1417+15C>T|||||| 22 29694684 . A G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|14/17|c.1433-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|13/16|c.1415-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|12/15|c.1250-39A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|13/16|c.1418-39A>G|||||| 22 29694688 . A G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|14/17|c.1433-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|13/16|c.1415-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|12/15|c.1250-35A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|13/16|c.1418-35A>G|||||| 22 29694707 . G C . . ANN=C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|14/17|c.1433-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|13/16|c.1415-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|12/15|c.1250-16G>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|13/16|c.1418-16G>C|||||| 22 29694892 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|15/17|c.1595+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|14/16|c.1577+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|13/15|c.1412+7A>G||||||,G|splice_region_variant&intron_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|14/16|c.1580+7A>G|||||| 22 29694913 . C T . . ANN=T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|15/17|c.1595+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|14/16|c.1577+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|13/15|c.1412+28C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|14/16|c.1580+28C>T|||||| 22 29694917 . A G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|15/17|c.1595+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|14/16|c.1577+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|13/15|c.1412+32A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|14/16|c.1580+32A>G|||||| 22 29695192 . G A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|15/17|c.1596-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|14/16|c.1578-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|13/15|c.1413-32G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|14/16|c.1581-32G>A|||||| 22 29695545 . G A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|16/17|c.1694-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|15/16|c.1676-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|14/15|c.1511-44G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|15/16|c.1679-44G>A|||||| 22 29695737 . C T . . ANN=T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|17/18|c.1842C>T|p.Gly614Gly|2170/2678|1842/1986|614/661||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|16/17|c.1824C>T|p.Gly608Gly|2152/2660|1824/1968|608/655||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|15/16|c.1659C>T|p.Gly553Gly|1987/2495|1659/1803|553/600||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|16/17|c.1827C>T|p.Gly609Gly|2155/2663|1827/1971|609/656|| 22 29695761 . C T . . ANN=T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_013986.3|Coding|17/18|c.1866C>T|p.Gly622Gly|2194/2678|1866/1986|622/661||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|16/17|c.1848C>T|p.Gly616Gly|2176/2660|1848/1968|616/655||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|15/16|c.1683C>T|p.Gly561Gly|2011/2495|1683/1803|561/600||,T|synonymous_variant|LOW|EWSR1|EWSR1|transcript|NM_005243.3|Coding|16/17|c.1851C>T|p.Gly617Gly|2179/2663|1851/1971|617/656|| 22 29695865 . G A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|17/17|c.1946+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|16/16|c.1928+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|15/15|c.1763+24G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|16/16|c.1931+24G>A|||||| 22 29695871 . C T . . ANN=T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|17/17|c.1946+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|16/16|c.1928+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|15/15|c.1763+30C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|16/16|c.1931+30C>T|||||| 22 29695872 . G A . . ANN=A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|17/17|c.1946+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|16/16|c.1928+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|15/15|c.1763+31G>A||||||,A|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|16/16|c.1931+31G>A|||||| 22 29695875 . A G . . ANN=G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|17/17|c.1946+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|16/16|c.1928+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|15/15|c.1763+34A>G||||||,G|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|16/16|c.1931+34A>G|||||| 22 29696069 . C T . . ANN=T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|17/17|c.1947-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|16/16|c.1929-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|15/15|c.1764-43C>T||||||,T|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|16/16|c.1932-43C>T|||||| 22 29696085 . A C . . ANN=C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_013986.3|Coding|17/17|c.1947-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163285.1|Coding|16/16|c.1929-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_001163286.1|Coding|15/15|c.1764-27A>C||||||,C|intron_variant|MODIFIER|EWSR1|EWSR1|transcript|NM_005243.3|Coding|16/16|c.1932-27A>C|||||| 22 29704125 . C T . . ANN=T|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.30C>T|p.Gly10Gly|236/2543|30/2045|10/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.30C>T|p.Gly10Gly|208/1835|30/1365|10/454||,T|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.30C>T|p.Gly10Gly|241/2548|30/2045|10/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704131 . G A . . ANN=A|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.36G>A|p.Ala12Ala|242/2543|36/2045|12/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.36G>A|p.Ala12Ala|214/1835|36/1365|12/454||,A|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.36G>A|p.Ala12Ala|247/2548|36/2045|12/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704164 . G A . . ANN=A|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.69G>A|p.Glu23Glu|275/2543|69/2045|23/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.69G>A|p.Glu23Glu|247/1835|69/1365|23/454||,A|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.69G>A|p.Glu23Glu|280/2548|69/2045|23/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704255 . A T . . ANN=T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.160A>T|p.Thr54Ser|366/2543|160/2045|54/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.160A>T|p.Thr54Ser|338/1835|160/1365|54/454||,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.160A>T|p.Thr54Ser|371/2548|160/2045|54/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704333 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.238C>T|p.Arg80Cys|444/2543|238/2045|80/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.238C>T|p.Arg80Cys|416/1835|238/1365|80/454||,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.238C>T|p.Arg80Cys|449/2548|238/2045|80/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704409 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.314C>T|p.Thr105Ile|520/2543|314/2045|105/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.314C>T|p.Thr105Ile|492/1835|314/1365|105/454||,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.314C>T|p.Thr105Ile|525/2548|314/2045|105/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704627 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.532C>T|p.Pro178Ser|738/2543|532/2045|178/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.532C>T|p.Pro178Ser|710/1835|532/1365|178/454||,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.532C>T|p.Pro178Ser|743/2548|532/2045|178/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704642 . G A . . ANN=A|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.547G>A|p.Asp183Asn|753/2543|547/2045|183/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.547G>A|p.Asp183Asn|725/1835|547/1365|183/454||,A|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.547G>A|p.Asp183Asn|758/2548|547/2045|183/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704662 . C G . . ANN=G|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.567C>G|p.Pro189Pro|773/2543|567/2045|189/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.567C>G|p.Pro189Pro|745/1835|567/1365|189/454||,G|synonymous_variant|LOW|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.567C>G|p.Pro189Pro|778/2548|567/2045|189/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704688 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/6|c.593C>T|p.Pro198Leu|799/2543|593/2045|198/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/6|c.593C>T|p.Pro198Leu|771/1835|593/1365|198/454||,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/6|c.593C>T|p.Pro198Leu|804/2548|593/2045|198/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29704761 . G A . . ANN=A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|2/5|c.633+33G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|2/5|c.633+33G>A||||||,A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|2/5|c.633+33G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706514 . C G . . ANN=G|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|3/6|c.719C>G|p.Ser240Trp|925/2543|719/2045|240/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|3/6|c.719C>G|p.Ser240Trp|897/1835|719/1365|240/454||,G|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|3/6|c.719C>G|p.Ser240Trp|930/2548|719/2045|240/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706550 . G A . . ANN=A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|3/5|c.741+14G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|3/5|c.741+14G>A||||||,A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|3/5|c.741+14G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706560 . C T . . ANN=T|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|3/5|c.741+24C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|3/5|c.741+24C>T||||||,T|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|3/5|c.741+24C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706587 . G A . . ANN=A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|3/5|c.742-41G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|3/5|c.742-41G>A||||||,A|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|3/5|c.742-41G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706784 . C T . . ANN=T|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|4/5|c.839-33C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|4/5|c.839-33C>T||||||,T|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|4/5|c.839-33C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706796 . G GCCTGT . . ANN=GCCTGT|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|4/5|c.839-21_839-20insCCTGT||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,GCCTGT|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|4/5|c.839-21_839-20insCCTGT||||||,GCCTGT|intron_variant|MODIFIER|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|4/5|c.839-21_839-20insCCTGT||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706885 . C T . . ANN=T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|5/6|c.907C>T|p.Arg303Cys|1113/2543|907/2045|303/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|5/6|c.907C>T|p.Arg303Cys|1085/1835|907/1365|303/454||,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|5/6|c.907C>T|p.Arg303Cys|1118/2548|907/2045|303/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706907 . G T . . ANN=T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|5/6|c.929G>T|p.Gly310Val|1135/2543|929/2045|310/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|5/6|c.929G>T|p.Gly310Val|1107/1835|929/1365|310/454||,T|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|5/6|c.929G>T|p.Gly310Val|1140/2548|929/2045|310/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706919 . G A . . ANN=A|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|5/6|c.941G>A|p.Arg314Gln|1147/2543|941/2045|314/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|5/6|c.941G>A|p.Arg314Gln|1119/1835|941/1365|314/454||,A|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|5/6|c.941G>A|p.Arg314Gln|1152/2548|941/2045|314/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29706927 . C G . . ANN=G|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_006478.4|Coding|5/6|c.949C>G|p.Arg317Gly|1155/2543|949/2045|317/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_001278730.1|Coding|5/6|c.949C>G|p.Arg317Gly|1127/1835|949/1365|317/454||,G|missense_variant|MODERATE|GAS2L1|GAS2L1|transcript|NM_152236.2|Coding|5/6|c.949C>G|p.Arg317Gly|1160/2548|949/2045|317/680||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS 22 29709359 . G A . . ANN=A|synonymous_variant|LOW|RASL10A|RASL10A|transcript|NM_006477.4|Coding|3/3|c.543C>T|p.Arg181Arg|1053/1490|543/612|181/203|| 22 29709518 . G T . . ANN=T|synonymous_variant|LOW|RASL10A|RASL10A|transcript|NM_006477.4|Coding|3/3|c.384C>A|p.Gly128Gly|894/1490|384/612|128/203|| 22 29709601 . G A . . ANN=A|intron_variant|MODIFIER|RASL10A|RASL10A|transcript|NM_006477.4|Coding|2/2|c.345-44C>T|||||| 22 29709804 . T A . . ANN=A|intron_variant|MODIFIER|RASL10A|RASL10A|transcript|NM_006477.4|Coding|2/2|c.344+48A>T|||||| 22 29709844 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RASL10A|RASL10A|transcript|NM_006477.4|Coding|2/2|c.344+8C>T|||||| 22 29709989 . G A . . ANN=A|intron_variant|MODIFIER|RASL10A|RASL10A|transcript|NM_006477.4|Coding|1/2|c.220-13C>T|||||| 22 29711158 . G A . . ANN=A|synonymous_variant|LOW|RASL10A|RASL10A|transcript|NM_006477.4|Coding|1/3|c.78C>T|p.Phe26Phe|588/1490|78/612|26/203|| 22 29711247 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|RASL10A|RASL10A|transcript|NM_006477.4|Coding|1/3|c.-12C>G|||||12| 22 29724792 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|23/23|c.*18A>G|||||18|,C|3_prime_UTR_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|21/21|c.*18A>G|||||18|,C|3_prime_UTR_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|21/21|c.*18A>G|||||18| 22 29724916 . C A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|22/22|c.2776-32G>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|20/20|c.2686-32G>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|20/20|c.2746-32G>T|||||| 22 29725674 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|22/22|c.2775+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|20/20|c.2685+693G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|20/20|c.2745+693G>A|||||| 22 29726339 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|21/22|c.2766+28C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|20/20|c.2685+28C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|20/20|c.2745+28C>T|||||| 22 29726356 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|21/22|c.2766+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|20/20|c.2685+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|20/20|c.2745+11C>T|||||| 22 29726395 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|21/23|c.2738G>A|p.Arg913Gln|2925/4178|2738/2850|913/949||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|20/21|c.2657G>A|p.Arg886Gln|2844/4088|2657/2760|886/919||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|20/21|c.2717G>A|p.Arg906Gln|2904/4148|2717/2820|906/939|| 22 29726466 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|21/23|c.2667C>T|p.Asn889Asn|2854/4178|2667/2850|889/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|20/21|c.2586C>T|p.Asn862Asn|2773/4088|2586/2760|862/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|20/21|c.2646C>T|p.Asn882Asn|2833/4148|2646/2820|882/939|| 22 29726601 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|20/22|c.2611+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|19/20|c.2530+11C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|19/20|c.2590+11C>T|||||| 22 29726624 . G A . . ANN=A|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|20/23|c.2599C>T|p.Pro867Ser|2786/4178|2599/2850|867/949||,A|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|19/21|c.2518C>T|p.Pro840Ser|2705/4088|2518/2760|840/919||,A|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|19/21|c.2578C>T|p.Pro860Ser|2765/4148|2578/2820|860/939|| 22 29727535 . G C . . ANN=C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|18/22|c.2440-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|17/20|c.2359-13C>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|17/20|c.2419-13C>G|||||| 22 29727729 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|18/22|c.2439+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|17/20|c.2358+47G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|17/20|c.2418+47G>A|||||| 22 29727866 . C T . . ANN=T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|18/23|c.2349G>A|p.Ala783Ala|2536/4178|2349/2850|783/949||,T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|17/21|c.2268G>A|p.Ala756Ala|2455/4088|2268/2760|756/919||,T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|17/21|c.2328G>A|p.Ala776Ala|2515/4148|2328/2820|776/939|| 22 29727881 . G C . . ANN=C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|18/23|c.2334C>G|p.Pro778Pro|2521/4178|2334/2850|778/949||,C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|17/21|c.2253C>G|p.Pro751Pro|2440/4088|2253/2760|751/919||,C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|17/21|c.2313C>G|p.Pro771Pro|2500/4148|2313/2820|771/939|| 22 29727886 . T C . . ANN=C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|18/23|c.2329A>G|p.Thr777Ala|2516/4178|2329/2850|777/949||,C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|17/21|c.2248A>G|p.Thr750Ala|2435/4088|2248/2760|750/919||,C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|17/21|c.2308A>G|p.Thr770Ala|2495/4148|2308/2820|770/939|| 22 29727944 . T G . . ANN=G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|17/22|c.2310-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|16/20|c.2229-39A>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|16/20|c.2289-39A>C|||||| 22 29730232 . G C . . ANN=C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|17/22|c.2309+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|16/20|c.2228+22C>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|16/20|c.2288+22C>G|||||| 22 29730346 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/20|c.2143-7C>T||||||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|17/23|c.2217C>T|p.Thr739Thr|2404/4178|2217/2850|739/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|16/21|c.2196C>T|p.Thr732Thr|2383/4148|2196/2820|732/939|| 22 29730446 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|16/22|c.2164-47G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/20|c.2143-107G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|15/20|c.2143-47G>A|||||| 22 29734941 . C G . . ANN=G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|16/22|c.2163+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/20|c.2142+38G>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|15/20|c.2142+38G>C|||||| 22 29734950 . CCCG C . . ANN=C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|16/22|c.2163+26_2163+28delCGG||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/20|c.2142+26_2142+28delCGG||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|15/20|c.2142+26_2142+28delCGG|||||| 22 29734952 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|16/22|c.2163+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/20|c.2142+27G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|15/20|c.2142+27G>A|||||| 22 29735000 . T A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|16/23|c.2142A>T|p.Gly714Gly|2329/4178|2142/2850|714/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/21|c.2121A>T|p.Gly707Gly|2308/4088|2121/2760|707/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|15/21|c.2121A>T|p.Gly707Gly|2308/4148|2121/2820|707/939|| 22 29735056 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|16/23|c.2086G>A|p.Gly696Ser|2273/4178|2086/2850|696/949||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/21|c.2065G>A|p.Gly689Ser|2252/4088|2065/2760|689/919||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|15/21|c.2065G>A|p.Gly689Ser|2252/4148|2065/2820|689/939|| 22 29735065 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|16/23|c.2077G>A|p.Ala693Thr|2264/4178|2077/2850|693/949||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/21|c.2056G>A|p.Ala686Thr|2243/4088|2056/2760|686/919||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|15/21|c.2056G>A|p.Ala686Thr|2243/4148|2056/2820|686/939|| 22 29735105 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|16/23|c.2037C>T|p.Phe679Phe|2224/4178|2037/2850|679/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|15/21|c.2016C>T|p.Phe672Phe|2203/4088|2016/2760|672/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|15/21|c.2016C>T|p.Phe672Phe|2203/4148|2016/2820|672/939|| 22 29735733 . T C . . ANN=C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|15/22|c.2019+10A>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|14/20|c.1999-611A>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|14/20|c.1999-611A>G|||||| 22 29736660 . A G . . ANN=G|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|14/23|c.1983T>C|p.Gly661Gly|2170/4178|1983/2850|661/949||,G|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|14/21|c.1983T>C|p.Gly661Gly|2170/4088|1983/2760|661/919||,G|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|14/21|c.1983T>C|p.Gly661Gly|2170/4148|1983/2820|661/939|| 22 29736756 . C T . . ANN=T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|14/23|c.1887G>A|p.Leu629Leu|2074/4178|1887/2850|629/949||,T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|14/21|c.1887G>A|p.Leu629Leu|2074/4088|1887/2760|629/919||,T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|14/21|c.1887G>A|p.Leu629Leu|2074/4148|1887/2820|629/939|| 22 29736816 . G C . . ANN=C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|14/23|c.1827C>G|p.Ala609Ala|2014/4178|1827/2850|609/949||,C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|14/21|c.1827C>G|p.Ala609Ala|2014/4088|1827/2760|609/919||,C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|14/21|c.1827C>G|p.Ala609Ala|2014/4148|1827/2820|609/939|| 22 29737470 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|13/22|c.1796+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|13/20|c.1796+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|13/20|c.1796+20C>T|||||| 22 29737521 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|13/23|c.1765G>A|p.Val589Met|1952/4178|1765/2850|589/949||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|13/21|c.1765G>A|p.Val589Met|1952/4088|1765/2760|589/919||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|13/21|c.1765G>A|p.Val589Met|1952/4148|1765/2820|589/939|| 22 29737526 . C A . . ANN=A|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|13/23|c.1760G>T|p.Gly587Val|1947/4178|1760/2850|587/949||,A|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|13/21|c.1760G>T|p.Gly587Val|1947/4088|1760/2760|587/919||,A|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|13/21|c.1760G>T|p.Gly587Val|1947/4148|1760/2820|587/939|| 22 29737551 . T C . . ANN=C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|13/23|c.1735A>G|p.Ser579Gly|1922/4178|1735/2850|579/949||,C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|13/21|c.1735A>G|p.Ser579Gly|1922/4088|1735/2760|579/919||,C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|13/21|c.1735A>G|p.Ser579Gly|1922/4148|1735/2820|579/939|| 22 29737579 . C T . . ANN=T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|13/23|c.1707G>A|p.Thr569Thr|1894/4178|1707/2850|569/949||,T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|13/21|c.1707G>A|p.Thr569Thr|1894/4088|1707/2760|569/919||,T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|13/21|c.1707G>A|p.Thr569Thr|1894/4148|1707/2820|569/939|| 22 29737773 . A G . . ANN=G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|12/22|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|12/20|c.1537-24T>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|12/20|c.1537-24T>C|||||| 22 29737788 . G C . . ANN=C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|12/22|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|12/20|c.1537-39C>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|12/20|c.1537-39C>G|||||| 22 29738254 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|12/22|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|12/20|c.1536+20C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|12/20|c.1536+20C>T|||||| 22 29738399 . G T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|11/22|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|11/20|c.1438-27C>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|11/20|c.1438-27C>A|||||| 22 29738400 . A G . . ANN=G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|11/22|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|11/20|c.1438-28T>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|11/20|c.1438-28T>C|||||| 22 29745417 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|10/22|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|10/20|c.1272-45G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|10/20|c.1272-45G>A|||||| 22 29746062 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|10/23|c.1233C>T|p.Ile411Ile|1420/4178|1233/2850|411/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|10/21|c.1233C>T|p.Ile411Ile|1420/4088|1233/2760|411/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|10/21|c.1233C>T|p.Ile411Ile|1420/4148|1233/2820|411/939|| 22 29746186 . C G . . ANN=G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|9/22|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|9/20|c.1156-47G>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|9/20|c.1156-47G>C|||||| 22 29747112 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|9/22|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|9/20|c.1155+48G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|9/20|c.1155+48G>A|||||| 22 29747266 . A G . . ANN=G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|8/22|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|8/20|c.1060-11T>C||||||,G|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|8/20|c.1060-11T>C|||||| 22 29747644 . T C . . ANN=C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|8/22|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|8/20|c.1059+50A>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|8/20|c.1059+50A>G|||||| 22 29747684 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|8/22|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|8/20|c.1059+10G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|8/20|c.1059+10G>A|||||| 22 29747700 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|8/23|c.1053C>T|p.Ile351Ile|1240/4178|1053/2850|351/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|8/21|c.1053C>T|p.Ile351Ile|1240/4088|1053/2760|351/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|8/21|c.1053C>T|p.Ile351Ile|1240/4148|1053/2820|351/939|| 22 29747766 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|8/23|c.987C>T|p.Asn329Asn|1174/4178|987/2850|329/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|8/21|c.987C>T|p.Asn329Asn|1174/4088|987/2760|329/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|8/21|c.987C>T|p.Asn329Asn|1174/4148|987/2820|329/939|| 22 29747778 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|8/23|c.975C>T|p.Phe325Phe|1162/4178|975/2850|325/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|8/21|c.975C>T|p.Phe325Phe|1162/4088|975/2760|325/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|8/21|c.975C>T|p.Phe325Phe|1162/4148|975/2820|325/939|| 22 29750596 . C A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|7/22|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|7/20|c.938+43G>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|7/20|c.938+43G>T|||||| 22 29750602 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|7/22|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|7/20|c.938+37C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|7/20|c.938+37C>T|||||| 22 29750620 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|7/22|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|7/20|c.938+19G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|7/20|c.938+19G>A|||||| 22 29750695 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|7/23|c.882C>T|p.Ala294Ala|1069/4178|882/2850|294/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|7/21|c.882C>T|p.Ala294Ala|1069/4088|882/2760|294/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|7/21|c.882C>T|p.Ala294Ala|1069/4148|882/2820|294/939|| 22 29750757 . A G . . ANN=G|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|7/23|c.820T>C|p.Leu274Leu|1007/4178|820/2850|274/949||,G|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|7/21|c.820T>C|p.Leu274Leu|1007/4088|820/2760|274/919||,G|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|7/21|c.820T>C|p.Leu274Leu|1007/4148|820/2820|274/939|| 22 29752399 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|6/22|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|6/20|c.716+16G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|6/20|c.716+16G>A|||||| 22 29752404 . A C . . ANN=C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|6/22|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|6/20|c.716+11T>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|6/20|c.716+11T>G|||||| 22 29752566 . C T . . ANN=T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|6/23|c.565G>A|p.Glu189Lys|752/4178|565/2850|189/949||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|6/21|c.565G>A|p.Glu189Lys|752/4088|565/2760|189/919||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|6/21|c.565G>A|p.Glu189Lys|752/4148|565/2820|189/939|| 22 29752621 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|5/22|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|5/20|c.526-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|5/20|c.526-16C>T|||||| 22 29754665 . A C . . ANN=C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|5/22|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|5/20|c.525+50T>G||||||,C|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|5/20|c.525+50T>G|||||| 22 29754707 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|5/22|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|5/20|c.525+8A>G||||||,C|splice_region_variant&intron_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|5/20|c.525+8A>G|||||| 22 29754721 . G T . . ANN=T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|5/23|c.519C>A|p.Asn173Lys|706/4178|519/2850|173/949||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|5/21|c.519C>A|p.Asn173Lys|706/4088|519/2760|173/919||,T|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|5/21|c.519C>A|p.Asn173Lys|706/4148|519/2820|173/939|| 22 29754730 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|5/23|c.510C>T|p.Ser170Ser|697/4178|510/2850|170/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|5/21|c.510C>T|p.Ser170Ser|697/4088|510/2760|170/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|5/21|c.510C>T|p.Ser170Ser|697/4148|510/2820|170/939|| 22 29754770 . T C . . ANN=C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001127.3|Coding|5/23|c.470A>G|p.Glu157Gly|657/4178|470/2850|157/949||,C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|5/21|c.470A>G|p.Glu157Gly|657/4088|470/2760|157/919||,C|missense_variant|MODERATE|AP1B1|AP1B1|transcript|NM_145730.2|Coding|5/21|c.470A>G|p.Glu157Gly|657/4148|470/2820|157/939|| 22 29754793 . G A . . ANN=A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|5/23|c.447C>T|p.His149His|634/4178|447/2850|149/949||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|5/21|c.447C>T|p.His149His|634/4088|447/2760|149/919||,A|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|5/21|c.447C>T|p.His149His|634/4148|447/2820|149/939|| 22 29754937 . G T . . ANN=T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|5/23|c.303C>A|p.Leu101Leu|490/4178|303/2850|101/949||,T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|5/21|c.303C>A|p.Leu101Leu|490/4088|303/2760|101/919||,T|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|5/21|c.303C>A|p.Leu101Leu|490/4148|303/2820|101/939|| 22 29754996 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|4/22|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|4/20|c.280-36C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|4/20|c.280-36C>T|||||| 22 29755802 . C T . . ANN=T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|4/22|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|4/20|c.279+11G>A||||||,T|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|4/20|c.279+11G>A|||||| 22 29755803 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|4/22|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|4/20|c.279+10C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|4/20|c.279+10C>T|||||| 22 29755888 . T C . . ANN=C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001127.3|Coding|4/23|c.204A>G|p.Leu68Leu|391/4178|204/2850|68/949||,C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|4/21|c.204A>G|p.Leu68Leu|391/4088|204/2760|68/919||,C|synonymous_variant|LOW|AP1B1|AP1B1|transcript|NM_145730.2|Coding|4/21|c.204A>G|p.Leu68Leu|391/4148|204/2820|68/939|| 22 29755964 . G A . . ANN=A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001127.3|Coding|3/22|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_001166019.1|Coding|3/20|c.144-16C>T||||||,A|intron_variant|MODIFIER|AP1B1|AP1B1|transcript|NM_145730.2|Coding|3/20|c.144-16C>T|||||| 22 29834741 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RFPL1|RFPL1|transcript|NM_021026.2|Coding|1/2|c.-40G>A|||||40|,A|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.3378C>T|||||| 22 29834747 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RFPL1|RFPL1|transcript|NM_021026.2|Coding|1/2|c.-34G>A|||||34|,A|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.3372C>T|||||| 22 29834766 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|RFPL1|RFPL1|transcript|NM_021026.2|Coding|1/2|c.-15A>G|||||15|,G|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.3353T>C|||||| 22 29834957 . C T . . ANN=T|synonymous_variant|LOW|RFPL1|RFPL1|transcript|NM_021026.2|Coding|1/2|c.177C>T|p.Val59Val|386/1496|177/954|59/317||,T|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.3162G>A|||||| 22 29834993 . C G . . ANN=G|synonymous_variant|LOW|RFPL1|RFPL1|transcript|NM_021026.2|Coding|1/2|c.213C>G|p.Pro71Pro|422/1496|213/954|71/317||,G|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.3126G>C|||||| 22 29835060 . T C . . ANN=C|missense_variant|MODERATE|RFPL1|RFPL1|transcript|NM_021026.2|Coding|1/2|c.280T>C|p.Trp94Arg|489/1496|280/954|94/317||,C|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.3059A>G|||||| 22 29835175 . C T . . ANN=T|intron_variant|MODIFIER|RFPL1|RFPL1|transcript|NM_021026.2|Coding|1/1|c.373+22C>T||||||,T|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.2944G>A|||||| 22 29835187 . G A . . ANN=A|intron_variant|MODIFIER|RFPL1|RFPL1|transcript|NM_021026.2|Coding|1/1|c.373+34G>A||||||,A|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.2932C>T|||||| 22 29837564 . ACTT A . . ANN=|inframe_deletion|MODERATE|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.409_411delTTC|p.Phe137del|618/1496|409/954|137/317||INFO_REALIGN_3_PRIME,A|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.552_554delAAG|||||| 22 29837566 . TTCC T . . ANN=|inframe_deletion|MODERATE|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.415_417delCTC|p.Leu139del|624/1496|415/954|139/317||INFO_REALIGN_3_PRIME,T|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.550_552delGGA|||||| 22 29837572 . CTCA C . . ANN=|disruptive_inframe_deletion|MODERATE|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.417_419delCAT|p.Ile140del|626/1496|417/954|139/317||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.544_546delTGA|||||| 22 29837583 . C T . . ANN=T|synonymous_variant|LOW|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.426C>T|p.Asp142Asp|635/1496|426/954|142/317||,T|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.536G>A|||||| 22 29837599 . C T . . ANN=T|stop_gained|HIGH|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.442C>T|p.Arg148*|651/1496|442/954|148/317||,T|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.520G>A|||||| 22 29837638 . G A . . ANN=A|missense_variant|MODERATE|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.481G>A|p.Glu161Lys|690/1496|481/954|161/317||,A|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.481C>T|||||| 22 29837978 . C T . . ANN=T|missense_variant|MODERATE|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.821C>T|p.Ser274Phe|1030/1496|821/954|274/317||,T|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.141G>A|||||| 22 29838068 . C T . . ANN=T|missense_variant|MODERATE|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.911C>T|p.Pro304Leu|1120/1496|911/954|304/317||,T|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.51G>A|||||| 22 29838088 . G T . . ANN=T|missense_variant|MODERATE|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.931G>T|p.Val311Phe|1140/1496|931/954|311/317||,T|non_coding_exon_variant|MODIFIER|RFPL1S|RFPL1S|transcript|NR_002727.2|Noncoding|1/1|n.31C>A|||||| 22 29838141 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|RFPL1|RFPL1|transcript|NM_021026.2|Coding|2/2|c.*30T>G|||||30| 22 29876272 . G A . . ANN=A|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|1/4|c.21G>A|p.Ala7Ala|92/3719|21/3063|7/1020|| 22 29876374 . T C . . ANN=C|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|1/4|c.123T>C|p.Ala41Ala|194/3719|123/3063|41/1020|| 22 29876548 . G A . . ANN=A|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|1/4|c.297G>A|p.Glu99Glu|368/3719|297/3063|99/1020|| 22 29876806 . A C . . ANN=C|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|1/4|c.555A>C|p.Leu185Leu|626/3719|555/3063|185/1020|| 22 29877010 . G T . . ANN=T|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|1/4|c.759G>T|p.Ala253Ala|830/3719|759/3063|253/1020|| 22 29877061 . G C . . ANN=C|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|1/4|c.810G>C|p.Ala270Ala|881/3719|810/3063|270/1020|| 22 29879534 . C A . . ANN=A|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|2/4|c.1054C>A|p.Arg352Ser|1125/3719|1054/3063|352/1020|| 22 29881828 . C T . . ANN=T|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|3/4|c.1200C>T|p.Ala400Ala|1271/3719|1200/3063|400/1020|| 22 29881844 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|3/3|c.1208+8G>A|||||| 22 29881863 . G C . . ANN=C|intron_variant|MODIFIER|NEFH|NEFH|transcript|NM_021076.3|Coding|3/3|c.1208+27G>C|||||| 22 29881877 . T G . . ANN=G|intron_variant|MODIFIER|NEFH|NEFH|transcript|NM_021076.3|Coding|3/3|c.1208+41T>G|||||| 22 29881884 . G A . . ANN=A|intron_variant|MODIFIER|NEFH|NEFH|transcript|NM_021076.3|Coding|3/3|c.1208+48G>A|||||| 22 29884863 . C T . . ANN=T|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1234C>T|p.Arg412Trp|1305/3719|1234/3063|412/1020|| 22 29884976 . G C . . ANN=C|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1347G>C|p.Lys449Asn|1418/3719|1347/3063|449/1020|| 22 29885016 . G A . . ANN=A|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1387G>A|p.Glu463Lys|1458/3719|1387/3063|463/1020|| 22 29885075 . G A . . ANN=A|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1446G>A|p.Glu482Glu|1517/3719|1446/3063|482/1020|| 22 29885127 . G GAAACAA . . ANN=AACAAA|disruptive_inframe_insertion|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1500_1505dupAACAAA|p.Thr501_Lys502dup|1577/3719|1506/3063|502/1020||INFO_REALIGN_3_PRIME 22 29885256 . G A . . ANN=A|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1627G>A|p.Glu543Lys|1698/3719|1627/3063|543/1020|| 22 29885352 . C T . . ANN=T|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1723C>T|p.Pro575Ser|1794/3719|1723/3063|575/1020|| 22 29885368 . C T . . ANN=T|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1739C>T|p.Ser580Phe|1810/3719|1739/3063|580/1020|| 22 29885369 . C T . . ANN=T|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1740C>T|p.Ser580Ser|1811/3719|1740/3063|580/1020|| 22 29885412 . C T . . ANN=T|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1783C>T|p.Pro595Ser|1854/3719|1783/3063|595/1020|| 22 29885543 . CAAGTCTCCAACGAAGGAGGAAGCA C . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1920_1943delTCCAACGAAGGAGGAAGCAAAGTC|p.Pro641_Ser648del|1991/3719|1920/3063|640/1020||INFO_REALIGN_3_PRIME 22 29885569 . A AGTCCCCTGAGAAGGCCAA . . ANN=TGAGAAGGCCAAGTCCCC|disruptive_inframe_insertion|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1947_1964dupTGAGAAGGCCAAGTCCCC|p.Glu650_Pro655dup|2036/3719|1965/3063|655/1020||INFO_REALIGN_3_PRIME 22 29885580 . AAGGCCAAGTCCCCAGAGAAGGAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1965_1988delAGAGAAGGAAGAGGCCAAGTCCCC|p.Glu656_Pro663del|2036/3719|1965/3063|655/1020||INFO_REALIGN_3_PRIME 22 29885598 . AAGGAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.1973_1978delAAGAGG|p.Glu658_Glu659del|2044/3719|1973/3063|658/1020||INFO_REALIGN_3_PRIME 22 29885735 . AAAGTCCCCTGAGAAGGCC A . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2115_2132delTGAGAAGGCCAAGTCCCC|p.Glu706_Pro711del|2186/3719|2115/3063|705/1020||INFO_REALIGN_3_PRIME 22 29885777 . AAAGTCCCCTGAGAAGGCC A . . ANN=|disruptive_inframe_deletion|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2157_2174delTGAGAAGGCCAAGTCCCC|p.Glu720_Pro725del|2228/3719|2157/3063|719/1020||INFO_REALIGN_3_PRIME 22 29885936 . A C . . ANN=C|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2307A>C|p.Pro769Pro|2378/3719|2307/3063|769/1020|| 22 29885956 . C G . . ANN=G|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2327C>G|p.Ser776Cys|2398/3719|2327/3063|776/1020|| 22 29886043 . A C . . ANN=C|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2414A>C|p.Glu805Ala|2485/3719|2414/3063|805/1020|| 22 29886118 . C T . . ANN=T|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2489C>T|p.Pro830Leu|2560/3719|2489/3063|830/1020|| 22 29886158 . G A . . ANN=A|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2529G>A|p.Glu843Glu|2600/3719|2529/3063|843/1020|| 22 29886200 . G A . . ANN=A|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2571G>A|p.Lys857Lys|2642/3719|2571/3063|857/1020|| 22 29886341 . C T . . ANN=T|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2712C>T|p.Pro904Pro|2783/3719|2712/3063|904/1020|| 22 29886343 . C T . . ANN=T|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2714C>T|p.Thr905Ile|2785/3719|2714/3063|905/1020|| 22 29886382 . A G . . ANN=G|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2753A>G|p.Glu918Gly|2824/3719|2753/3063|918/1020|| 22 29886386 . C T . . ANN=T|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2757C>T|p.Asp919Asp|2828/3719|2757/3063|919/1020|| 22 29886406 . C T . . ANN=T|missense_variant|MODERATE|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2777C>T|p.Thr926Ile|2848/3719|2777/3063|926/1020|| 22 29886413 . A G . . ANN=G|synonymous_variant|LOW|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.2784A>G|p.Val928Val|2855/3719|2784/3063|928/1020|| 22 29886714 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NEFH|NEFH|transcript|NM_021076.3|Coding|4/4|c.*22G>A|||||22| 22 29904439 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|21/21|c.*7G>T|||||7|,A|3_prime_UTR_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|21/21|c.*7G>T|||||7|,A|3_prime_UTR_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|20/20|c.*7G>T|||||7|,A|3_prime_UTR_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|20/20|c.*7G>T|||||7| 22 29904479 . G T . . ANN=T|stop_gained|HIGH|THOC5|THOC5|transcript|NM_001002877.1|Coding|21/21|c.2019C>A|p.Tyr673*|2223/2546|2019/2052|673/683||,T|stop_gained|HIGH|THOC5|THOC5|transcript|NM_001002878.1|Coding|21/21|c.2019C>A|p.Tyr673*|2354/2677|2019/2052|673/683||,T|stop_gained|HIGH|THOC5|THOC5|transcript|NM_001002879.1|Coding|20/20|c.2019C>A|p.Tyr673*|2238/2561|2019/2052|673/683||,T|stop_gained|HIGH|THOC5|THOC5|transcript|NM_003678.4|Coding|20/20|c.2019C>A|p.Tyr673*|2107/2430|2019/2052|673/683|| 22 29904515 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|20/20|c.1989-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|20/20|c.1989-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|19/19|c.1989-6C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|19/19|c.1989-6C>A|||||| 22 29904519 . T C . . ANN=C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|20/20|c.1989-10A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|20/20|c.1989-10A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|19/19|c.1989-10A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|19/19|c.1989-10A>G|||||| 22 29907077 . C A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|20/20|c.1988+18G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|20/20|c.1988+18G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|19/19|c.1988+18G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|19/19|c.1988+18G>T|||||| 22 29907200 . C T . . ANN=T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|20/21|c.1883G>A|p.Arg628Gln|2087/2546|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|20/21|c.1883G>A|p.Arg628Gln|2218/2677|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|19/20|c.1883G>A|p.Arg628Gln|2102/2561|1883/2052|628/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|19/20|c.1883G>A|p.Arg628Gln|1971/2430|1883/2052|628/683|| 22 29907273 . C T . . ANN=T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|20/21|c.1810G>A|p.Glu604Lys|2014/2546|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|20/21|c.1810G>A|p.Glu604Lys|2145/2677|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|19/20|c.1810G>A|p.Glu604Lys|2029/2561|1810/2052|604/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|19/20|c.1810G>A|p.Glu604Lys|1898/2430|1810/2052|604/683|| 22 29907284 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|20/21|c.1799C>G|p.Ala600Gly|2003/2546|1799/2052|600/683||,C|missense_variant&splice_region_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|20/21|c.1799C>G|p.Ala600Gly|2134/2677|1799/2052|600/683||,C|missense_variant&splice_region_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|19/20|c.1799C>G|p.Ala600Gly|2018/2561|1799/2052|600/683||,C|missense_variant&splice_region_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|19/20|c.1799C>G|p.Ala600Gly|1887/2430|1799/2052|600/683|| 22 29907322 . T C . . ANN=C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|19/20|c.1798-37A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|19/20|c.1798-37A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|18/19|c.1798-37A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|18/19|c.1798-37A>G|||||| 22 29907965 . C G . . ANN=G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|19/20|c.1797+45G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|19/20|c.1797+45G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|18/19|c.1797+45G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|18/19|c.1797+45G>C|||||| 22 29907987 . T C . . ANN=C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|19/20|c.1797+23A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|19/20|c.1797+23A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|18/19|c.1797+23A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|18/19|c.1797+23A>G|||||| 22 29908002 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|19/20|c.1797+8C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|19/20|c.1797+8C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|18/19|c.1797+8C>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|18/19|c.1797+8C>A|||||| 22 29908025 . G A . . ANN=A|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|19/21|c.1782C>T|p.Asn594Asn|1986/2546|1782/2052|594/683||,A|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|19/21|c.1782C>T|p.Asn594Asn|2117/2677|1782/2052|594/683||,A|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|18/20|c.1782C>T|p.Asn594Asn|2001/2561|1782/2052|594/683||,A|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|18/20|c.1782C>T|p.Asn594Asn|1870/2430|1782/2052|594/683|| 22 29908072 . C T . . ANN=T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|19/21|c.1735G>A|p.Val579Ile|1939/2546|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|19/21|c.1735G>A|p.Val579Ile|2070/2677|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|18/20|c.1735G>A|p.Val579Ile|1954/2561|1735/2052|579/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|18/20|c.1735G>A|p.Val579Ile|1823/2430|1735/2052|579/683|| 22 29908154 . G T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|18/20|c.1682-29C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|18/20|c.1682-29C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|17/19|c.1682-29C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|17/19|c.1682-29C>A|||||| 22 29912968 . T C . . ANN=C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|18/20|c.1681+50A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|18/20|c.1681+50A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|17/19|c.1681+50A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|17/19|c.1681+50A>G|||||| 22 29912993 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|18/20|c.1681+25G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|18/20|c.1681+25G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|17/19|c.1681+25G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|17/19|c.1681+25G>A|||||| 22 29913025 . C T . . ANN=T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|18/21|c.1674G>A|p.Arg558Arg|1878/2546|1674/2052|558/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|18/21|c.1674G>A|p.Arg558Arg|2009/2677|1674/2052|558/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|17/20|c.1674G>A|p.Arg558Arg|1893/2561|1674/2052|558/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|17/20|c.1674G>A|p.Arg558Arg|1762/2430|1674/2052|558/683|| 22 29913033 . T C . . ANN=C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|18/21|c.1666A>G|p.Ile556Val|1870/2546|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|18/21|c.1666A>G|p.Ile556Val|2001/2677|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|17/20|c.1666A>G|p.Ile556Val|1885/2561|1666/2052|556/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|17/20|c.1666A>G|p.Ile556Val|1754/2430|1666/2052|556/683|| 22 29913272 . C T . . ANN=T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|17/21|c.1573G>A|p.Val525Ile|1777/2546|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|17/21|c.1573G>A|p.Val525Ile|1908/2677|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|16/20|c.1573G>A|p.Val525Ile|1792/2561|1573/2052|525/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|16/20|c.1573G>A|p.Val525Ile|1661/2430|1573/2052|525/683|| 22 29913278 . C T . . ANN=T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|17/21|c.1567G>A|p.Val523Met|1771/2546|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|17/21|c.1567G>A|p.Val523Met|1902/2677|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|16/20|c.1567G>A|p.Val523Met|1786/2561|1567/2052|523/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|16/20|c.1567G>A|p.Val523Met|1655/2430|1567/2052|523/683|| 22 29913377 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|16/20|c.1490-22C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|16/20|c.1490-22C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|15/19|c.1490-22C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|15/19|c.1490-22C>T|||||| 22 29913379 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|16/20|c.1490-24G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|16/20|c.1490-24G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|15/19|c.1490-24G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|15/19|c.1490-24G>A|||||| 22 29913380 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|16/20|c.1490-25C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|16/20|c.1490-25C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|15/19|c.1490-25C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|15/19|c.1490-25C>T|||||| 22 29915144 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|15/20|c.1375-35G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|15/20|c.1375-35G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|14/19|c.1375-35G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|14/19|c.1375-35G>A|||||| 22 29916963 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|14/20|c.1277+24C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|14/20|c.1277+24C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|13/19|c.1277+24C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|13/19|c.1277+24C>T|||||| 22 29917009 . G C . . ANN=C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|14/21|c.1255C>G|p.Gln419Glu|1459/2546|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|14/21|c.1255C>G|p.Gln419Glu|1590/2677|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|13/20|c.1255C>G|p.Gln419Glu|1474/2561|1255/2052|419/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|13/20|c.1255C>G|p.Gln419Glu|1343/2430|1255/2052|419/683|| 22 29917122 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|13/20|c.1176-34G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|13/20|c.1176-34G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|12/19|c.1176-34G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|12/19|c.1176-34G>A|||||| 22 29921795 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|13/20|c.1175+32C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|13/20|c.1175+32C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|12/19|c.1175+32C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|12/19|c.1175+32C>T|||||| 22 29921813 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|13/20|c.1175+14G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|13/20|c.1175+14G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|12/19|c.1175+14G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|12/19|c.1175+14G>A|||||| 22 29924156 . C T . . ANN=T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|12/21|c.977G>A|p.Arg326Lys|1181/2546|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|12/21|c.977G>A|p.Arg326Lys|1312/2677|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|11/20|c.977G>A|p.Arg326Lys|1196/2561|977/2052|326/683||,T|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|11/20|c.977G>A|p.Arg326Lys|1065/2430|977/2052|326/683|| 22 29924212 . T C . . ANN=C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|11/20|c.967-46A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|11/20|c.967-46A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|10/19|c.967-46A>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|10/19|c.967-46A>G|||||| 22 29924481 . AGAG A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|10/20|c.926-29_926-27delCTC||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|10/20|c.926-29_926-27delCTC||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|9/19|c.926-29_926-27delCTC||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|9/19|c.926-29_926-27delCTC|||||| 22 29925129 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|10/20|c.925+22G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|10/20|c.925+22G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|9/19|c.925+22G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|9/19|c.925+22G>A|||||| 22 29925140 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|10/20|c.925+11G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|10/20|c.925+11G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|9/19|c.925+11G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|9/19|c.925+11G>A|||||| 22 29925221 . C T . . ANN=T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|10/21|c.855G>A|p.Thr285Thr|1059/2546|855/2052|285/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|10/21|c.855G>A|p.Thr285Thr|1190/2677|855/2052|285/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|9/20|c.855G>A|p.Thr285Thr|1074/2561|855/2052|285/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|9/20|c.855G>A|p.Thr285Thr|943/2430|855/2052|285/683|| 22 29925239 . AG A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|9/20|c.848-12delC||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|9/20|c.848-12delC||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|8/19|c.848-12delC||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|8/19|c.848-12delC|||||| 22 29927821 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|9/21|c.846T>C|p.Cys282Cys|1050/2546|846/2052|282/683||,G|splice_region_variant&synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|9/21|c.846T>C|p.Cys282Cys|1181/2677|846/2052|282/683||,G|splice_region_variant&synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|8/20|c.846T>C|p.Cys282Cys|1065/2561|846/2052|282/683||,G|splice_region_variant&synonymous_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|8/20|c.846T>C|p.Cys282Cys|934/2430|846/2052|282/683|| 22 29927836 . C T . . ANN=T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|9/21|c.831G>A|p.Ala277Ala|1035/2546|831/2052|277/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|9/21|c.831G>A|p.Ala277Ala|1166/2677|831/2052|277/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|8/20|c.831G>A|p.Ala277Ala|1050/2561|831/2052|277/683||,T|synonymous_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|8/20|c.831G>A|p.Ala277Ala|919/2430|831/2052|277/683|| 22 29927873 . G A . . ANN=A|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|9/21|c.794C>T|p.Pro265Leu|998/2546|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|9/21|c.794C>T|p.Pro265Leu|1129/2677|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|8/20|c.794C>T|p.Pro265Leu|1013/2561|794/2052|265/683||,A|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|8/20|c.794C>T|p.Pro265Leu|882/2430|794/2052|265/683|| 22 29927912 . T A . . ANN=A|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|9/21|c.755A>T|p.Asp252Val|959/2546|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|9/21|c.755A>T|p.Asp252Val|1090/2677|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|8/20|c.755A>T|p.Asp252Val|974/2561|755/2052|252/683||,A|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|8/20|c.755A>T|p.Asp252Val|843/2430|755/2052|252/683|| 22 29927922 . T C . . ANN=C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|9/21|c.745A>G|p.Met249Val|949/2546|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|9/21|c.745A>G|p.Met249Val|1080/2677|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|8/20|c.745A>G|p.Met249Val|964/2561|745/2052|249/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|8/20|c.745A>G|p.Met249Val|833/2430|745/2052|249/683|| 22 29927961 . A G . . ANN=G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|8/20|c.715-9T>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|8/20|c.715-9T>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|7/19|c.715-9T>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|7/19|c.715-9T>C|||||| 22 29927967 . C G . . ANN=G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|8/20|c.715-15G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|8/20|c.715-15G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|7/19|c.715-15G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|7/19|c.715-15G>C|||||| 22 29927979 . C A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|8/20|c.715-27G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|8/20|c.715-27G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|7/19|c.715-27G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|7/19|c.715-27G>T|||||| 22 29932568 . G C . . ANN=C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|8/20|c.714+45C>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|8/20|c.714+45C>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|7/19|c.714+45C>G||||||,C|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|7/19|c.714+45C>G|||||| 22 29935299 . C T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|7/20|c.599+20G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|7/20|c.599+20G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|6/19|c.599+20G>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|6/19|c.599+20G>A|||||| 22 29935380 . T C . . ANN=C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|7/21|c.538A>G|p.Met180Val|742/2546|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|7/21|c.538A>G|p.Met180Val|873/2677|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|6/20|c.538A>G|p.Met180Val|757/2561|538/2052|180/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|6/20|c.538A>G|p.Met180Val|626/2430|538/2052|180/683|| 22 29935472 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|6/20|c.453-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|6/20|c.453-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|5/19|c.453-7T>C||||||,G|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|5/19|c.453-7T>C|||||| 22 29935491 . C G . . ANN=G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|6/20|c.453-26G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|6/20|c.453-26G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|5/19|c.453-26G>C||||||,G|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|5/19|c.453-26G>C|||||| 22 29935507 . A T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|6/20|c.453-42T>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|6/20|c.453-42T>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|5/19|c.453-42T>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|5/19|c.453-42T>A|||||| 22 29938798 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|6/20|c.452+50C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|6/20|c.452+50C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|5/19|c.452+50C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|5/19|c.452+50C>T|||||| 22 29938807 . G T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|6/20|c.452+41C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|6/20|c.452+41C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|5/19|c.452+41C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|5/19|c.452+41C>A|||||| 22 29938976 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|5/20|c.355-31C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|5/20|c.355-31C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|4/19|c.355-31C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|4/19|c.355-31C>T|||||| 22 29939379 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|5/20|c.354+39C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|5/20|c.354+39C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|4/19|c.354+39C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|4/19|c.354+39C>T|||||| 22 29939387 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|5/20|c.354+31C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|5/20|c.354+31C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|4/19|c.354+31C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|4/19|c.354+31C>T|||||| 22 29939391 . G T . . ANN=T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|5/20|c.354+27C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|5/20|c.354+27C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|4/19|c.354+27C>A||||||,T|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|4/19|c.354+27C>A|||||| 22 29939414 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002877.1|Coding|5/20|c.354+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002878.1|Coding|5/20|c.354+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_001002879.1|Coding|4/19|c.354+4G>A||||||,T|splice_region_variant&intron_variant|LOW|THOC5|THOC5|transcript|NM_003678.4|Coding|4/19|c.354+4G>A|||||| 22 29940404 . T A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|4/20|c.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|4/20|c.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|3/19|c.240+45A>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|3/19|c.240+45A>T|||||| 22 29940556 . G C . . ANN=C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002877.1|Coding|4/21|c.133C>G|p.Leu45Val|337/2546|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002878.1|Coding|4/21|c.133C>G|p.Leu45Val|468/2677|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_001002879.1|Coding|3/20|c.133C>G|p.Leu45Val|352/2561|133/2052|45/683||,C|missense_variant|MODERATE|THOC5|THOC5|transcript|NM_003678.4|Coding|3/20|c.133C>G|p.Leu45Val|221/2430|133/2052|45/683|| 22 29945158 . G A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|2/20|c.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|2/20|c.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|1/19|c.-11-11C>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|1/19|c.-11-11C>T|||||| 22 29945186 . C A . . ANN=A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002877.1|Coding|2/20|c.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002878.1|Coding|2/20|c.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_001002879.1|Coding|1/19|c.-11-39G>T||||||,A|intron_variant|MODIFIER|THOC5|THOC5|transcript|NM_003678.4|Coding|1/19|c.-11-39G>T|||||| 22 29951963 . A G . . ANN=G|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|10/10|c.816T>C|p.Ser272Ser|1071/2236|816/855|272/284||,G|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|10/10|c.756T>C|p.Ser252Ser|770/1935|756/795|252/264|| 22 29952016 . CAG C . . ANN=C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|9/9|c.791-30_791-29delCT||||||,C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|9/9|c.731-30_731-29delCT|||||| 22 29954815 . T C . . ANN=C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|9/9|c.790+44A>G||||||,C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|9/9|c.730+44A>G|||||| 22 29954848 . G C . . ANN=C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|9/9|c.790+11C>G||||||,C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|9/9|c.730+11C>G|||||| 22 29954905 . G A . . ANN=A|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|9/10|c.744C>T|p.Asn248Asn|999/2236|744/855|248/284||,A|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|9/10|c.684C>T|p.Asn228Asn|698/1935|684/795|228/264|| 22 29954954 . G T . . ANN=T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|8/9|c.707-12C>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|8/9|c.647-12C>A|||||| 22 29954961 . C T . . ANN=T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|8/9|c.707-19G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|8/9|c.647-19G>A|||||| 22 29956742 . G A . . ANN=A|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|8/10|c.687C>T|p.Tyr229Tyr|942/2236|687/855|229/284||,A|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|8/10|c.627C>T|p.Tyr209Tyr|641/1935|627/795|209/264|| 22 29956860 . G A . . ANN=A|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|7/9|c.612-43C>T||||||,A|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|7/9|c.552-43C>T|||||| 22 29957117 . A C . . ANN=C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|7/9|c.611+43T>G||||||,C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|7/9|c.551+43T>G|||||| 22 29957137 . CCA C . . ANN=C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|7/9|c.611+21_611+22delTG||||||,C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|7/9|c.551+21_551+22delTG|||||| 22 29957194 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|6/9|c.580-3C>T||||||,A|splice_region_variant&intron_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|6/9|c.520-3C>T|||||| 22 29957474 . G A . . ANN=A|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|6/9|c.579+21C>T||||||,A|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|6/9|c.519+21C>T|||||| 22 29957570 . G A . . ANN=A|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|6/10|c.504C>T|p.Leu168Leu|759/2236|504/855|168/284||,A|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|6/10|c.444C>T|p.Leu148Leu|458/1935|444/795|148/264|| 22 29957676 . G A . . ANN=A|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|5/9|c.439-41C>T||||||,A|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|5/9|c.379-41C>T|||||| 22 29957796 . C T . . ANN=T|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|5/10|c.423G>A|p.Lys141Lys|678/2236|423/855|141/284||,T|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|5/10|c.363G>A|p.Lys121Lys|377/1935|363/795|121/264|| 22 29957826 . G A . . ANN=A|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|5/10|c.393C>T|p.Gly131Gly|648/2236|393/855|131/284||,A|synonymous_variant|LOW|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|5/10|c.333C>T|p.Gly111Gly|347/1935|333/795|111/264|| 22 29957894 . C T . . ANN=T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|4/9|c.368-43G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|4/9|c.308-43G>A|||||| 22 29965168 . G C . . ANN=C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|4/9|c.367+14C>G||||||,C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|4/9|c.307+14C>G|||||| 22 29965308 . C T . . ANN=T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|3/9|c.273-32G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|3/9|c.213-32G>A|||||| 22 29966242 . C G . . ANN=G|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|2/9|c.227-46G>C||||||,G|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|2/9|c.167-46G>C|||||| 22 29966409 . G A . . ANN=A|missense_variant|MODERATE|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|2/10|c.211C>T|p.Leu71Phe|466/2236|211/855|71/284||,A|missense_variant|MODERATE|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|2/10|c.151C>T|p.Leu51Phe|165/1935|151/795|51/264|| 22 29966487 . G A . . ANN=A|missense_variant|MODERATE|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|2/10|c.133C>T|p.Arg45Cys|388/2236|133/855|45/284||,A|missense_variant|MODERATE|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|2/10|c.73C>T|p.Arg25Cys|87/1935|73/795|25/264|| 22 29966549 . G A . . ANN=A|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|1/9|c.99-28C>T||||||,A|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|1/9|c.39-28C>T|||||| 22 29966558 . T C . . ANN=C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|1/9|c.99-37A>G||||||,C|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|1/9|c.39-37A>G|||||| 22 29976952 . C T . . ANN=T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|1/9|c.98+22G>A||||||,T|intron_variant|MODIFIER|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|1/9|c.38+82G>A|||||| 22 29977067 . G A . . ANN=A|missense_variant|MODERATE|NIPSNAP1|NIPSNAP1|transcript|NM_003634.3|Coding|1/10|c.5C>T|p.Ala2Val|260/2236|5/855|2/284||,A|missense_variant|MODERATE|NIPSNAP1|NIPSNAP1|transcript|NM_001202502.1|Coding|1/10|c.5C>T|p.Ala2Val|19/1935|5/795|2/264|| 22 29999970 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|1/16|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|1/16|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|1/15|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|1/17|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|1/16|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|1/16|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|1/15|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|1/17|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|1/5|c.-18G>A|||||18| 22 29999986 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|1/16|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|1/16|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|1/15|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|1/17|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|1/16|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|1/16|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|1/15|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|1/17|c.-2C>G|||||2|,G|5_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|1/5|c.-2C>G|||||2| 22 30032880 . C T . . ANN=T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|2/15|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|2/15|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|1/14|c.115-5311C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|2/16|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|1/15|c.115-2199C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|2/15|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|1/14|c.115-5311C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|2/16|c.240+15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|2/4|c.240+15C>T|||||| 22 30035076 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_000268.3|Coding|2/15|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181825.2|Coding|2/15|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_016418.5|Coding|2/16|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181828.2|Coding|1/15|c.115-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181832.2|Coding|2/16|c.241-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181833.2|Coding|2/4|c.241-3C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|1/14|c.115-3115C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|2/15|c.240+2211C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|1/14|c.115-3115C>T|||||| 22 30038152 . A C . . ANN=C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|3/15|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|3/15|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|1/14|c.115-39A>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|3/16|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|2/15|c.238-39A>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|2/15|c.241-39A>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|1/14|c.115-39A>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|3/16|c.364-39A>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|3/4|c.364-39A>C|||||| 22 30054302 . T C . . ANN=C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|7/15|c.675+49T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|7/15|c.675+49T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|5/14|c.426+49T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|7/16|c.675+49T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|6/15|c.549+49T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|6/15|c.552+49T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|5/14|c.426+49T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|7/16|c.675+49T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+16028T>C|||||| 22 30057159 . G A . . ANN=A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|7/15|c.676-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|7/15|c.676-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|5/14|c.427-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|7/16|c.676-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|6/15|c.550-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|6/15|c.553-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|5/14|c.427-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|7/16|c.676-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+18885G>A|||||| 22 30057174 . T C . . ANN=C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|7/15|c.676-20T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|7/15|c.676-20T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|5/14|c.427-20T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|7/16|c.676-20T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|6/15|c.550-20T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|6/15|c.553-20T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|5/14|c.427-20T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|7/16|c.676-20T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+18900T>C|||||| 22 30057201 . A G . . ANN=G|missense_variant|MODERATE|NF2|NF2|transcript|NM_000268.3|Coding|8/16|c.683A>G|p.Lys228Arg|1126/6029|683/1788|228/595||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181825.2|Coding|8/16|c.683A>G|p.Lys228Arg|1126/3076|683/1773|228/590||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181831.2|Coding|6/15|c.434A>G|p.Lys145Arg|877/2191|434/1524|145/507||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_016418.5|Coding|8/17|c.683A>G|p.Lys228Arg|1126/6074|683/1773|228/590||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181828.2|Coding|7/16|c.557A>G|p.Lys186Arg|1000/5948|557/1647|186/548||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181829.2|Coding|7/16|c.560A>G|p.Lys187Arg|1003/5951|560/1650|187/549||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181830.2|Coding|6/15|c.434A>G|p.Lys145Arg|877/5825|434/1524|145/507||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181832.2|Coding|8/17|c.683A>G|p.Lys228Arg|1126/6089|683/1773|228/590||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+18927A>G|||||| 22 30060945 . C T . . ANN=T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|8/15|c.811-34C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|8/15|c.811-34C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|6/14|c.562-34C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|8/16|c.811-34C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|7/15|c.685-34C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|7/15|c.688-34C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|6/14|c.562-34C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|8/16|c.811-34C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+22671C>T|||||| 22 30060962 . C G . . ANN=G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|8/15|c.811-17C>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|8/15|c.811-17C>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|6/14|c.562-17C>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|8/16|c.811-17C>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|7/15|c.685-17C>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|7/15|c.688-17C>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|6/14|c.562-17C>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|8/16|c.811-17C>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+22688C>G|||||| 22 30061050 . G A . . ANN=A|synonymous_variant|LOW|NF2|NF2|transcript|NM_000268.3|Coding|9/16|c.882G>A|p.Lys294Lys|1325/6029|882/1788|294/595||,A|synonymous_variant|LOW|NF2|NF2|transcript|NM_181825.2|Coding|9/16|c.882G>A|p.Lys294Lys|1325/3076|882/1773|294/590||,A|synonymous_variant|LOW|NF2|NF2|transcript|NM_181831.2|Coding|7/15|c.633G>A|p.Lys211Lys|1076/2191|633/1524|211/507||,A|synonymous_variant|LOW|NF2|NF2|transcript|NM_016418.5|Coding|9/17|c.882G>A|p.Lys294Lys|1325/6074|882/1773|294/590||,A|synonymous_variant|LOW|NF2|NF2|transcript|NM_181828.2|Coding|8/16|c.756G>A|p.Lys252Lys|1199/5948|756/1647|252/548||,A|synonymous_variant|LOW|NF2|NF2|transcript|NM_181829.2|Coding|8/16|c.759G>A|p.Lys253Lys|1202/5951|759/1650|253/549||,A|synonymous_variant|LOW|NF2|NF2|transcript|NM_181830.2|Coding|7/15|c.633G>A|p.Lys211Lys|1076/5825|633/1524|211/507||,A|synonymous_variant|LOW|NF2|NF2|transcript|NM_181832.2|Coding|9/17|c.882G>A|p.Lys294Lys|1325/6089|882/1773|294/590||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+22776G>A|||||| 22 30064290 . A G . . ANN=G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|9/15|c.886-32A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|9/15|c.886-32A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|7/14|c.637-32A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|9/16|c.886-32A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|8/15|c.760-32A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|8/15|c.763-32A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|7/14|c.637-32A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|9/16|c.886-32A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+26016A>G|||||| 22 30064307 . C T . . ANN=T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|9/15|c.886-15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|9/15|c.886-15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|7/14|c.637-15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|9/16|c.886-15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|8/15|c.760-15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|8/15|c.763-15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|7/14|c.637-15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|9/16|c.886-15C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+26033C>T|||||| 22 30064339 . C T . . ANN=T|synonymous_variant|LOW|NF2|NF2|transcript|NM_000268.3|Coding|10/16|c.903C>T|p.Ile301Ile|1346/6029|903/1788|301/595||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181825.2|Coding|10/16|c.903C>T|p.Ile301Ile|1346/3076|903/1773|301/590||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181831.2|Coding|8/15|c.654C>T|p.Ile218Ile|1097/2191|654/1524|218/507||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_016418.5|Coding|10/17|c.903C>T|p.Ile301Ile|1346/6074|903/1773|301/590||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181828.2|Coding|9/16|c.777C>T|p.Ile259Ile|1220/5948|777/1647|259/548||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181829.2|Coding|9/16|c.780C>T|p.Ile260Ile|1223/5951|780/1650|260/549||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181830.2|Coding|8/15|c.654C>T|p.Ile218Ile|1097/5825|654/1524|218/507||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181832.2|Coding|10/17|c.903C>T|p.Ile301Ile|1346/6089|903/1773|301/590||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+26065C>T|||||| 22 30064440 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_000268.3|Coding|10/15|c.999+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181825.2|Coding|10/15|c.999+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181831.2|Coding|8/14|c.750+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_016418.5|Coding|10/16|c.999+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181828.2|Coding|9/15|c.873+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181829.2|Coding|9/15|c.876+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181830.2|Coding|8/14|c.750+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181832.2|Coding|10/16|c.999+5G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+26166G>A|||||| 22 30064474 . T TG . . ANN=TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|10/15|c.999+39_999+40insG||||||,TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|10/15|c.999+39_999+40insG||||||,TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|8/14|c.750+39_750+40insG||||||,TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|10/16|c.999+39_999+40insG||||||,TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|9/15|c.873+39_873+40insG||||||,TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|9/15|c.876+39_876+40insG||||||,TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|8/14|c.750+39_750+40insG||||||,TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|10/16|c.999+39_999+40insG||||||,TG|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.447+26200_447+26201insG|||||| 22 30067776 . C A . . ANN=A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|10/15|c.1000-39C>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|10/15|c.1000-39C>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|8/14|c.751-39C>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|10/16|c.1000-39C>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|9/15|c.874-39C>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|9/15|c.877-39C>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|8/14|c.751-39C>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|10/16|c.1000-39C>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-22965C>A|||||| 22 30067780 . G A . . ANN=A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|10/15|c.1000-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|10/15|c.1000-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|8/14|c.751-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|10/16|c.1000-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|9/15|c.874-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|9/15|c.877-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|8/14|c.751-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|10/16|c.1000-35G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-22961G>A|||||| 22 30067811 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_000268.3|Coding|10/15|c.1000-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181825.2|Coding|10/15|c.1000-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181831.2|Coding|8/14|c.751-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_016418.5|Coding|10/16|c.1000-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181828.2|Coding|9/15|c.874-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181829.2|Coding|9/15|c.877-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181830.2|Coding|8/14|c.751-4G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181832.2|Coding|10/16|c.1000-4G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-22930G>A|||||| 22 30067928 . C T . . ANN=T|synonymous_variant|LOW|NF2|NF2|transcript|NM_000268.3|Coding|11/16|c.1113C>T|p.Asn371Asn|1556/6029|1113/1788|371/595||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181825.2|Coding|11/16|c.1113C>T|p.Asn371Asn|1556/3076|1113/1773|371/590||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181831.2|Coding|9/15|c.864C>T|p.Asn288Asn|1307/2191|864/1524|288/507||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_016418.5|Coding|11/17|c.1113C>T|p.Asn371Asn|1556/6074|1113/1773|371/590||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181828.2|Coding|10/16|c.987C>T|p.Asn329Asn|1430/5948|987/1647|329/548||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181829.2|Coding|10/16|c.990C>T|p.Asn330Asn|1433/5951|990/1650|330/549||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181830.2|Coding|9/15|c.864C>T|p.Asn288Asn|1307/5825|864/1524|288/507||,T|synonymous_variant|LOW|NF2|NF2|transcript|NM_181832.2|Coding|11/17|c.1113C>T|p.Asn371Asn|1556/6089|1113/1773|371/590||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-22813C>T|||||| 22 30067973 . T C . . ANN=C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|11/15|c.1122+36T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|11/15|c.1122+36T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|9/14|c.873+36T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|11/16|c.1122+36T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|10/15|c.996+36T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|10/15|c.999+36T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|9/14|c.873+36T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|11/16|c.1122+36T>C||||||,C|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-22768T>C|||||| 22 30069252 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_000268.3|Coding|11/15|c.1123-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181825.2|Coding|11/15|c.1123-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181831.2|Coding|9/14|c.874-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_016418.5|Coding|11/16|c.1123-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181828.2|Coding|10/15|c.997-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181829.2|Coding|10/15|c.1000-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181830.2|Coding|9/14|c.874-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181832.2|Coding|11/16|c.1123-6C>T||||||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-21489C>T|||||| 22 30069504 . G A . . ANN=A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|12/15|c.1340+29G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|12/15|c.1340+29G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|10/14|c.1091+29G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|12/16|c.1340+29G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|11/15|c.1214+29G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|11/15|c.1217+29G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|10/14|c.1091+29G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|12/16|c.1340+29G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-21237G>A|||||| 22 30070923 . C T . . ANN=T|missense_variant|MODERATE|NF2|NF2|transcript|NM_000268.3|Coding|13/16|c.1439C>T|p.Thr480Met|1882/6029|1439/1788|480/595||,T|missense_variant|MODERATE|NF2|NF2|transcript|NM_181825.2|Coding|13/16|c.1439C>T|p.Thr480Met|1882/3076|1439/1773|480/590||,T|missense_variant|MODERATE|NF2|NF2|transcript|NM_181831.2|Coding|11/15|c.1190C>T|p.Thr397Met|1633/2191|1190/1524|397/507||,T|missense_variant|MODERATE|NF2|NF2|transcript|NM_016418.5|Coding|13/17|c.1439C>T|p.Thr480Met|1882/6074|1439/1773|480/590||,T|missense_variant|MODERATE|NF2|NF2|transcript|NM_181828.2|Coding|12/16|c.1313C>T|p.Thr438Met|1756/5948|1313/1647|438/548||,T|missense_variant|MODERATE|NF2|NF2|transcript|NM_181829.2|Coding|12/16|c.1316C>T|p.Thr439Met|1759/5951|1316/1650|439/549||,T|missense_variant|MODERATE|NF2|NF2|transcript|NM_181830.2|Coding|11/15|c.1190C>T|p.Thr397Met|1633/5825|1190/1524|397/507||,T|missense_variant|MODERATE|NF2|NF2|transcript|NM_181832.2|Coding|13/17|c.1439C>T|p.Thr480Met|1882/6089|1439/1773|480/590||,T|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-19818C>T|||||| 22 30074278 . A G . . ANN=G|missense_variant|MODERATE|NF2|NF2|transcript|NM_000268.3|Coding|14/16|c.1540A>G|p.Met514Val|1983/6029|1540/1788|514/595||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181825.2|Coding|14/16|c.1540A>G|p.Met514Val|1983/3076|1540/1773|514/590||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181831.2|Coding|12/15|c.1291A>G|p.Met431Val|1734/2191|1291/1524|431/507||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_016418.5|Coding|14/17|c.1540A>G|p.Met514Val|1983/6074|1540/1773|514/590||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181828.2|Coding|13/16|c.1414A>G|p.Met472Val|1857/5948|1414/1647|472/548||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181829.2|Coding|13/16|c.1417A>G|p.Met473Val|1860/5951|1417/1650|473/549||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181830.2|Coding|12/15|c.1291A>G|p.Met431Val|1734/5825|1291/1524|431/507||,G|missense_variant|MODERATE|NF2|NF2|transcript|NM_181832.2|Coding|14/17|c.1540A>G|p.Met514Val|1983/6089|1540/1773|514/590||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-16463A>G|||||| 22 30074349 . G A . . ANN=A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|14/15|c.1574+37G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|14/15|c.1574+37G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|12/14|c.1325+37G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|14/16|c.1574+37G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|13/15|c.1448+37G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|13/15|c.1451+37G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|12/14|c.1325+37G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|14/16|c.1574+37G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-16392G>A|||||| 22 30077384 . A G . . ANN=G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|14/15|c.1575-44A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|14/15|c.1575-44A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|12/14|c.1326-44A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|14/16|c.1575-44A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|13/15|c.1449-44A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|13/15|c.1452-44A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|12/14|c.1326-44A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|14/16|c.1575-44A>G||||||,G|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-13357A>G|||||| 22 30077423 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_000268.3|Coding|14/15|c.1575-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181825.2|Coding|14/15|c.1575-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181831.2|Coding|12/14|c.1326-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_016418.5|Coding|14/16|c.1575-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181828.2|Coding|13/15|c.1449-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181829.2|Coding|13/15|c.1452-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181830.2|Coding|12/14|c.1326-5G>A||||||,A|splice_region_variant&intron_variant|LOW|NF2|NF2|transcript|NM_181832.2|Coding|14/16|c.1575-5G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-13318G>A|||||| 22 30078975 . T A . . ANN=A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|15/15|c.1737+1385T>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|15/15|c.1738-34T>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|13/14|c.1489-34T>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|15/16|c.1738-34T>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|14/15|c.1612-34T>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|14/15|c.1615-34T>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|13/14|c.1489-34T>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|15/16|c.1738-34T>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-11766T>A|||||| 22 30079091 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181825.2|Coding|16/16|c.*47G>A|||||47|,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|15/15|c.1737+1501G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181831.2|Coding|14/14|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|16/16|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|15/15|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|15/15|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|14/14|c.*9+38G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|16/16|c.*24+23G>A||||||,A|intron_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|4/4|c.448-11650G>A|||||| 22 30090756 . G A . . ANN=A|missense_variant|MODERATE|NF2|NF2|transcript|NM_000268.3|Coding|16/16|c.1753G>A|p.Ala585Thr|2196/6029|1753/1788|585/595||,A|missense_variant|MODERATE|NF2|NF2|transcript|NM_181833.2|Coding|5/5|c.463G>A|p.Ala155Thr|906/4739|463/498|155/165||,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|17/17|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|16/16|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|16/16|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|15/15|c.*25G>A|||||11712|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|17/17|c.*40G>A|||||11712| 22 30090795 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_000268.3|Coding|16/16|c.*4G>A|||||4|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_016418.5|Coding|17/17|c.*64G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181828.2|Coding|16/16|c.*64G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181829.2|Coding|16/16|c.*64G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181830.2|Coding|15/15|c.*64G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181832.2|Coding|17/17|c.*79G>A|||||11751|,A|3_prime_UTR_variant|MODIFIER|NF2|NF2|transcript|NM_181833.2|Coding|5/5|c.*4G>A|||||4| 22 30123605 . G A . . ANN=A|intron_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|1/4|c.110-46G>A|||||| 22 30123615 . G A . . ANN=A|intron_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|1/4|c.110-36G>A|||||| 22 30123751 . C T . . ANN=T|synonymous_variant|LOW|CABP7|CABP7|transcript|NM_182527.2|Coding|2/5|c.210C>T|p.Asn70Asn|280/2980|210/648|70/215|| 22 30123802 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CABP7|CABP7|transcript|NM_182527.2|Coding|2/4|c.253+8C>T|||||| 22 30123833 . T C . . ANN=C|intron_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|2/4|c.253+39T>C|||||| 22 30124614 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|CABP7|CABP7|transcript|NM_182527.2|Coding|2/4|c.254-5A>T|||||| 22 30124708 . G A . . ANN=A|missense_variant|MODERATE|CABP7|CABP7|transcript|NM_182527.2|Coding|3/5|c.343G>A|p.Asp115Asn|413/2980|343/648|115/215|| 22 30124780 . T C . . ANN=C|intron_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|3/4|c.366+49T>C|||||| 22 30125023 . C T . . ANN=T|intron_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|3/4|c.367-21C>T|||||| 22 30125032 . CCCCT C . . ANN=C|splice_region_variant&intron_variant|LOW|CABP7|CABP7|transcript|NM_182527.2|Coding|3/4|c.367-11_367-8delCCCT|||||| 22 30125235 . G A . . ANN=A|intron_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|4/4|c.520+38G>A|||||| 22 30125381 . G A . . ANN=A|intron_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|4/4|c.521-50G>A|||||| 22 30125422 . C T . . ANN=T|intron_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|4/4|c.521-9C>T|||||| 22 30125490 . G A . . ANN=A|missense_variant|MODERATE|CABP7|CABP7|transcript|NM_182527.2|Coding|5/5|c.580G>A|p.Ala194Thr|650/2980|580/648|194/215|| 22 30125596 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|5/5|c.*38C>T|||||38| 22 30127189 . T TG . . ANN=G|3_prime_UTR_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|5/5|c.*1636dupG|||||1637|INFO_REALIGN_3_PRIME,TG|3_prime_UTR_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|6/6|c.*24dupC|||||24|,TG|3_prime_UTR_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|7/7|c.*24dupC|||||24| 22 30127365 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|5/5|c.*1807G>A|||||1807|,A|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|5/5|c.384-22C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|6/6|c.384-22C>T|||||| 22 30127367 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|CABP7|CABP7|transcript|NM_182527.2|Coding|5/5|c.*1809G>T|||||1809|,T|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|5/5|c.384-24C>A||||||,T|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|6/6|c.384-24C>A|||||| 22 30134285 . G T . . ANN=T|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|5/5|c.383+34C>A||||||,T|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|6/6|c.383+34C>A|||||| 22 30134299 . G A . . ANN=A|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|5/5|c.383+20C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|6/6|c.383+20C>T|||||| 22 30134366 . G A . . ANN=A|synonymous_variant|LOW|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|5/6|c.336C>T|p.Asp112Asp|472/918|336/513|112/170||,A|synonymous_variant|LOW|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|6/7|c.336C>T|p.Asp112Asp|587/1033|336/513|112/170|| 22 30134381 . C T . . ANN=T|synonymous_variant|LOW|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|5/6|c.321G>A|p.Glu107Glu|457/918|321/513|107/170||,T|synonymous_variant|LOW|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|6/7|c.321G>A|p.Glu107Glu|572/1033|321/513|107/170|| 22 30136606 . C T . . ANN=T|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|4/5|c.271+33G>A||||||,T|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|5/6|c.271+33G>A|||||| 22 30136701 . G C . . ANN=C|missense_variant|MODERATE|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|4/6|c.209C>G|p.Ser70Cys|345/918|209/513|70/170||,C|missense_variant|MODERATE|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|5/7|c.209C>G|p.Ser70Cys|460/1033|209/513|70/170|| 22 30136748 . G C . . ANN=C|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|3/5|c.191-29C>G||||||,C|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|4/6|c.191-29C>G|||||| 22 30136752 . G A . . ANN=A|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|3/5|c.191-33C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|4/6|c.191-33C>T|||||| 22 30138497 . G A . . ANN=A|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_001003692.1|Coding|2/5|c.128-28C>T||||||,A|intron_variant|MODIFIER|ZMAT5|ZMAT5|transcript|NM_019103.2|Coding|3/6|c.128-28C>T|||||| 22 30163403 . T C . . ANN=C|synonymous_variant|LOW|UQCR10|UQCR10|transcript|NM_013387.3|Coding|1/2|c.16T>C|p.Leu6Leu|46/916|16/192|6/63||,C|synonymous_variant|LOW|UQCR10|UQCR10|transcript|NM_001003684.1|Coding|1/2|c.16T>C|p.Leu6Leu|46/975|16/189|6/62|| 22 30163526 . A G . . ANN=G|missense_variant|MODERATE|UQCR10|UQCR10|transcript|NM_013387.3|Coding|1/2|c.139A>G|p.Ile47Val|169/916|139/192|47/63||,G|missense_variant|MODERATE|UQCR10|UQCR10|transcript|NM_001003684.1|Coding|1/2|c.139A>G|p.Ile47Val|169/975|139/189|47/62|| 22 30163571 . G A,T . . ANN=A|missense_variant|MODERATE|UQCR10|UQCR10|transcript|NM_001003684.1|Coding|1/2|c.184G>A|p.Ala62Thr|214/975|184/189|62/62||,T|missense_variant|MODERATE|UQCR10|UQCR10|transcript|NM_001003684.1|Coding|1/2|c.184G>T|p.Ala62Ser|214/975|184/189|62/62||,A|intron_variant|MODIFIER|UQCR10|UQCR10|transcript|NM_013387.3|Coding|1/1|c.150+34G>A||||||,T|intron_variant|MODIFIER|UQCR10|UQCR10|transcript|NM_013387.3|Coding|1/1|c.150+34G>T|||||| 22 30165686 . A G . . ANN=G|missense_variant|MODERATE|UQCR10|UQCR10|transcript|NM_013387.3|Coding|2/2|c.170A>G|p.Lys57Arg|200/916|170/192|57/63||,G|3_prime_UTR_variant|MODIFIER|UQCR10|UQCR10|transcript|NM_001003684.1|Coding|2/2|c.*40A>G|||||2110| 22 30184982 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|20/20|c.*20G>C|||||20|,G|3_prime_UTR_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|19/19|c.*20G>C|||||20| 22 30185114 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|20/20|c.2162G>A|p.Arg721His|2306/2823|2162/2274|721/757||,T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|19/19|c.1934G>A|p.Arg645His|2078/2595|1934/2046|645/681|| 22 30185198 . C T . . ANN=T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|19/19|c.2103-25G>A||||||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|18/18|c.1875-25G>A|||||| 22 30188532 . T A . . ANN=A|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|17/19|c.1920-8A>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|16/18|c.1692-8A>T|||||| 22 30189343 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|17/19|c.1919+6G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|16/18|c.1691+6G>A|||||| 22 30189346 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|17/19|c.1919+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|16/18|c.1691+3G>A|||||| 22 30189497 . T A . . ANN=A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|16/19|c.1789-18A>T||||||,A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|15/18|c.1561-18A>T|||||| 22 30189504 . G A . . ANN=A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|16/19|c.1789-25C>T||||||,A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|15/18|c.1561-25C>T|||||| 22 30189592 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|16/20|c.1762G>A|p.Glu588Lys|1906/2823|1762/2274|588/757||,T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|15/19|c.1534G>A|p.Glu512Lys|1678/2595|1534/2046|512/681|| 22 30189642 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|16/20|c.1712G>A|p.Arg571Gln|1856/2823|1712/2274|571/757||,T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|15/19|c.1484G>A|p.Arg495Gln|1628/2595|1484/2046|495/681|| 22 30196931 . T C . . ANN=C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|15/19|c.1688+49A>G||||||,C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|14/18|c.1460+49A>G|||||| 22 30197031 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|15/20|c.1637A>G|p.Asp546Gly|1781/2823|1637/2274|546/757||,C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|14/19|c.1409A>G|p.Asp470Gly|1553/2595|1409/2046|470/681|| 22 30197937 . G A . . ANN=A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|14/19|c.1568+46C>T||||||,A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|13/18|c.1340+46C>T|||||| 22 30197953 . C T . . ANN=T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|14/19|c.1568+30G>A||||||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|13/18|c.1340+30G>A|||||| 22 30198025 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|14/20|c.1526G>A|p.Arg509Gln|1670/2823|1526/2274|509/757||,T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|13/19|c.1298G>A|p.Arg433Gln|1442/2595|1298/2046|433/681|| 22 30198063 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|14/20|c.1488C>T|p.Tyr496Tyr|1632/2823|1488/2274|496/757||,A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|13/19|c.1260C>T|p.Tyr420Tyr|1404/2595|1260/2046|420/681|| 22 30198126 . C T . . ANN=T|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|14/20|c.1425G>A|p.Val475Val|1569/2823|1425/2274|475/757||,T|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|13/19|c.1197G>A|p.Val399Val|1341/2595|1197/2046|399/681|| 22 30198183 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|14/20|c.1368C>T|p.Ala456Ala|1512/2823|1368/2274|456/757||,A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|13/19|c.1140C>T|p.Ala380Ala|1284/2595|1140/2046|380/681|| 22 30198225 . G T . . ANN=T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/19|c.1354-28C>A||||||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/18|c.1126-28C>A|||||| 22 30200616 . C G . . ANN=G|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/19|c.1353+11G>C||||||,G|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/18|c.1125+11G>C|||||| 22 30200621 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/19|c.1353+6T>C||||||,G|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/18|c.1125+6T>C|||||| 22 30200643 . T A . . ANN=A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/20|c.1337A>T|p.Asn446Ile|1481/2823|1337/2274|446/757||,A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/19|c.1109A>T|p.Asn370Ile|1253/2595|1109/2046|370/681|| 22 30200696 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/20|c.1284C>T|p.Asn428Asn|1428/2823|1284/2274|428/757||,A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/19|c.1056C>T|p.Asn352Asn|1200/2595|1056/2046|352/681|| 22 30200713 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/20|c.1267C>T|p.Pro423Ser|1411/2823|1267/2274|423/757||,A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/19|c.1039C>T|p.Pro347Ser|1183/2595|1039/2046|347/681|| 22 30200760 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/20|c.1220A>G|p.Asp407Gly|1364/2823|1220/2274|407/757||,C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/19|c.992A>G|p.Asp331Gly|1136/2595|992/2046|331/681|| 22 30200761 . C G . . ANN=G|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/20|c.1219G>C|p.Asp407His|1363/2823|1219/2274|407/757||,G|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/19|c.991G>C|p.Asp331His|1135/2595|991/2046|331/681|| 22 30200801 . G C . . ANN=C|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|13/20|c.1179C>G|p.Ala393Ala|1323/2823|1179/2274|393/757||,C|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|12/19|c.951C>G|p.Ala317Ala|1095/2595|951/2046|317/681|| 22 30202249 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|12/20|c.1116C>T|p.Pro372Pro|1260/2823|1116/2274|372/757||,A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|11/19|c.888C>T|p.Pro296Pro|1032/2595|888/2046|296/681|| 22 30202518 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|11/20|c.1041C>T|p.Ile347Ile|1185/2823|1041/2274|347/757||,A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|10/19|c.813C>T|p.Ile271Ile|957/2595|813/2046|271/681|| 22 30202556 . C T . . ANN=T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|10/19|c.1017-14G>A||||||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|9/18|c.789-14G>A|||||| 22 30202736 . G C . . ANN=C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|10/19|c.1016+50C>G||||||,C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|9/18|c.788+50C>G|||||| 22 30202774 . G C . . ANN=C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|10/19|c.1016+12C>G||||||,C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|9/18|c.788+12C>G|||||| 22 30202795 . A C . . ANN=C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|10/20|c.1007T>G|p.Leu336Arg|1151/2823|1007/2274|336/757||,C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|9/19|c.779T>G|p.Leu260Arg|923/2595|779/2046|260/681|| 22 30202866 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|10/20|c.936C>T|p.Leu312Leu|1080/2823|936/2274|312/757||,A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|9/19|c.708C>T|p.Leu236Leu|852/2595|708/2046|236/681|| 22 30202898 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|9/19|c.909-5C>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|8/18|c.681-5C>A|||||| 22 30209369 . T C . . ANN=C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|8/19|c.833+50A>G||||||,C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|7/18|c.605+50A>G|||||| 22 30209374 . C T . . ANN=T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|8/19|c.833+45G>A||||||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|7/18|c.605+45G>A|||||| 22 30209434 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|8/20|c.818A>G|p.His273Arg|962/2823|818/2274|273/757||,C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|7/19|c.590A>G|p.His197Arg|734/2595|590/2046|197/681|| 22 30209489 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|8/20|c.763A>G|p.Thr255Ala|907/2823|763/2274|255/757||,C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|7/19|c.535A>G|p.Thr179Ala|679/2595|535/2046|179/681|| 22 30210600 . TG T . . ANN=T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|7/19|c.720+45delC||||||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|6/18|c.492+45delC|||||| 22 30210624 . C T . . ANN=T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|7/19|c.720+22G>A||||||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|6/18|c.492+22G>A|||||| 22 30210631 . G A . . ANN=A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|7/19|c.720+15C>T||||||,A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|6/18|c.492+15C>T|||||| 22 30212006 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|6/20|c.598A>G|p.Thr200Ala|742/2823|598/2274|200/757||,C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|5/19|c.370A>G|p.Thr124Ala|514/2595|370/2046|124/681|| 22 30221053 . C T . . ANN=T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|4/19|c.411+23G>A||||||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|3/18|c.252+23G>A|||||| 22 30221077 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|4/20|c.410A>G|p.Lys137Arg|554/2823|410/2274|137/757||,C|missense_variant&splice_region_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|3/19|c.251A>G|p.Lys84Arg|395/2595|251/2046|84/681|| 22 30221120 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|4/20|c.367G>A|p.Val123Ile|511/2823|367/2274|123/757||,T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|3/19|c.208G>A|p.Val70Ile|352/2595|208/2046|70/681|| 22 30221122 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|4/20|c.365G>A|p.Ser122Asn|509/2823|365/2274|122/757||,T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|3/19|c.206G>A|p.Ser69Asn|350/2595|206/2046|69/681|| 22 30221125 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|4/20|c.362G>A|p.Arg121Gln|506/2823|362/2274|121/757||,T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|3/19|c.203G>A|p.Arg68Gln|347/2595|203/2046|68/681|| 22 30221177 . C T . . ANN=T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|4/20|c.310G>A|p.Glu104Lys|454/2823|310/2274|104/757||,T|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|3/19|c.151G>A|p.Glu51Lys|295/2595|151/2046|51/681|| 22 30221181 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|4/20|c.306C>T|p.Phe102Phe|450/2823|306/2274|102/757||,A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|3/19|c.147C>T|p.Phe49Phe|291/2595|147/2046|49/681|| 22 30221201 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|4/20|c.286C>T|p.Arg96Cys|430/2823|286/2274|96/757||,A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|3/19|c.127C>T|p.Arg43Cys|271/2595|127/2046|43/681|| 22 30221653 . G A . . ANN=A|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|3/20|c.198C>T|p.Leu66Leu|342/2823|198/2274|66/757||,A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/18|c.82-407C>T|||||| 22 30221712 . T C . . ANN=C|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|3/20|c.139A>G|p.Asn47Asp|283/2823|139/2274|47/757||,C|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/18|c.82-466A>G|||||| 22 30221725 . C T . . ANN=T|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|3/20|c.126G>A|p.Pro42Pro|270/2823|126/2274|42/757||,T|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/18|c.82-479G>A|||||| 22 30221816 . G A . . ANN=A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_032204.4|Coding|2/19|c.82-47C>T||||||,A|intron_variant|MODIFIER|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/18|c.82-570C>T|||||| 22 30228227 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|2/19|c.81+7C>T||||||,A|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/18|c.81+7C>T|||||| 22 30228231 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|2/19|c.81+3G>A||||||,T|splice_region_variant&intron_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/18|c.81+3G>A|||||| 22 30228238 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|2/20|c.77C>T|p.Ala26Val|221/2823|77/2274|26/757||,A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/19|c.77C>T|p.Ala26Val|221/2595|77/2046|26/681|| 22 30228261 . T C . . ANN=C|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_032204.4|Coding|2/20|c.54A>G|p.Thr18Thr|198/2823|54/2274|18/757||,C|synonymous_variant|LOW|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/19|c.54A>G|p.Thr18Thr|198/2595|54/2046|18/681|| 22 30228268 . G A . . ANN=A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_032204.4|Coding|2/20|c.47C>T|p.Pro16Leu|191/2823|47/2274|16/757||,A|missense_variant|MODERATE|ASCC2|ASCC2|transcript|NM_001242906.1|Coding|2/19|c.47C>T|p.Pro16Leu|191/2595|47/2046|16/681|| 22 30367014 . A T . . ANN=T|5_prime_UTR_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|3/20|c.-35A>T|||||35|,T|5_prime_UTR_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|3/20|c.-35A>T|||||35|,T|5_prime_UTR_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|3/19|c.-35A>T|||||35| 22 30367081 . AAAAC A . . ANN=A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|3/19|c.3+31_3+34delAAAC||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|3/19|c.3+31_3+34delAAAC||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|3/18|c.3+31_3+34delAAAC|||||| 22 30367085 . C A . . ANN=A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|3/19|c.3+34C>A||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|3/19|c.3+34C>A||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|3/18|c.3+34C>A|||||| 22 30367094 . CTG C . . ANN=C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|3/19|c.3+44_3+45delTG||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|3/19|c.3+44_3+45delTG||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|3/18|c.3+44_3+45delTG|||||| 22 30374414 . G A . . ANN=A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|3/19|c.4-17G>A||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|3/19|c.4-17G>A||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|3/18|c.4-17G>A|||||| 22 30374555 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|4/19|c.93+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|4/19|c.93+35A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|4/18|c.93+35A>G|||||| 22 30374920 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|4/19|c.94-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|4/19|c.94-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|4/18|c.94-5C>T|||||| 22 30374956 . CAG C . . ANN=|frameshift_variant|HIGH|MTMR3|MTMR3|transcript|NM_021090.3|Coding|5/20|c.128_129delAG|p.Glu43fs|456/8992|128/3597|43/1198||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|MTMR3|MTMR3|transcript|NM_153050.2|Coding|5/20|c.128_129delAG|p.Glu43fs|456/8908|128/3513|43/1170||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|MTMR3|MTMR3|transcript|NM_153051.2|Coding|5/19|c.128_129delAG|p.Glu43fs|456/8881|128/3486|43/1161||INFO_REALIGN_3_PRIME 22 30374960 . G A . . ANN=A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|5/20|c.129G>A|p.Glu43Glu|457/8992|129/3597|43/1198||,A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|5/20|c.129G>A|p.Glu43Glu|457/8908|129/3513|43/1170||,A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|5/19|c.129G>A|p.Glu43Glu|457/8881|129/3486|43/1161|| 22 30374975 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|5/20|c.144C>T|p.Ala48Ala|472/8992|144/3597|48/1198||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|5/20|c.144C>T|p.Ala48Ala|472/8908|144/3513|48/1170||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|5/19|c.144C>T|p.Ala48Ala|472/8881|144/3486|48/1161|| 22 30384572 . G A . . ANN=A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|6/19|c.293+21G>A||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|6/19|c.293+21G>A||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|6/18|c.293+21G>A|||||| 22 30384599 . T G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|6/19|c.293+48T>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|6/19|c.293+48T>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|6/18|c.293+48T>G|||||| 22 30387470 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|6/19|c.294-23A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|6/19|c.294-23A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|6/18|c.294-23A>G|||||| 22 30394731 . G GT . . ANN=GT|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|7/19|c.461-19_461-18insT||||||,GT|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|7/19|c.461-19_461-18insT||||||,GT|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|7/18|c.461-19_461-18insT|||||| 22 30398858 . C G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|8/19|c.558-11C>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|8/19|c.558-11C>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|8/18|c.558-11C>G|||||| 22 30398922 . A C . . ANN=C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|9/20|c.611A>C|p.Lys204Thr|939/8992|611/3597|204/1198||,C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|9/20|c.611A>C|p.Lys204Thr|939/8908|611/3513|204/1170||,C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|9/19|c.611A>C|p.Lys204Thr|939/8881|611/3486|204/1161|| 22 30398935 . T C . . ANN=C|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|9/20|c.624T>C|p.Ser208Ser|952/8992|624/3597|208/1198||,C|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|9/20|c.624T>C|p.Ser208Ser|952/8908|624/3513|208/1170||,C|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|9/19|c.624T>C|p.Ser208Ser|952/8881|624/3486|208/1161|| 22 30399000 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|9/19|c.671+18A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|9/19|c.671+18A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|9/18|c.671+18A>G|||||| 22 30403307 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|10/20|c.876C>T|p.Phe292Phe|1204/8992|876/3597|292/1198||,T|splice_region_variant&synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|10/20|c.876C>T|p.Phe292Phe|1204/8908|876/3513|292/1170||,T|splice_region_variant&synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|10/19|c.876C>T|p.Phe292Phe|1204/8881|876/3486|292/1161|| 22 30403357 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|10/19|c.877+49A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|10/19|c.877+49A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|10/18|c.877+49A>G|||||| 22 30403909 . T C . . ANN=C|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|11/20|c.897T>C|p.Ala299Ala|1225/8992|897/3597|299/1198||,C|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|11/20|c.897T>C|p.Ala299Ala|1225/8908|897/3513|299/1170||,C|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|11/19|c.897T>C|p.Ala299Ala|1225/8881|897/3486|299/1161|| 22 30403941 . A G . . ANN=G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|11/20|c.929A>G|p.Gln310Arg|1257/8992|929/3597|310/1198||,G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|11/20|c.929A>G|p.Gln310Arg|1257/8908|929/3513|310/1170||,G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|11/19|c.929A>G|p.Gln310Arg|1257/8881|929/3486|310/1161|| 22 30403996 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|11/20|c.984C>T|p.Ala328Ala|1312/8992|984/3597|328/1198||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|11/20|c.984C>T|p.Ala328Ala|1312/8908|984/3513|328/1170||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|11/19|c.984C>T|p.Ala328Ala|1312/8881|984/3486|328/1161|| 22 30405151 . T C . . ANN=C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|12/19|c.1121+33T>C||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|12/19|c.1121+33T>C||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|12/18|c.1121+33T>C||||||,C|non_coding_exon_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|5/5|n.732A>G|||||| 22 30408316 . T TA . . ANN=TA|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|12/19|c.1122-41_1122-40insA||||||,TA|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.698-3132_698-3131insT||||||,TA|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|12/19|c.1122-41_1122-40insA||||||,TA|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|12/18|c.1122-41_1122-40insA|||||| 22 30408427 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|13/20|c.1192G>A|p.Val398Ile|1520/8992|1192/3597|398/1198||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|13/20|c.1192G>A|p.Val398Ile|1520/8908|1192/3513|398/1170||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|13/19|c.1192G>A|p.Val398Ile|1520/8881|1192/3486|398/1161||,A|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.698-3242C>T|||||| 22 30409297 . G T . . ANN=T|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|13/19|c.1318-48G>T||||||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.698-4112C>A||||||,T|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|13/19|c.1318-48G>T||||||,T|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|13/18|c.1318-48G>T|||||| 22 30409367 . T C . . ANN=C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|14/20|c.1340T>C|p.Met447Thr|1668/8992|1340/3597|447/1198||,C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|14/20|c.1340T>C|p.Met447Thr|1668/8908|1340/3513|447/1170||,C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|14/19|c.1340T>C|p.Met447Thr|1668/8881|1340/3486|447/1161||,C|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.698-4182A>G|||||| 22 30409523 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|14/20|c.1496C>T|p.Ala499Val|1824/8992|1496/3597|499/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|14/20|c.1496C>T|p.Ala499Val|1824/8908|1496/3513|499/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|14/19|c.1496C>T|p.Ala499Val|1824/8881|1496/3486|499/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.698-4338G>A|||||| 22 30412469 . A C . . ANN=C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|14/19|c.1504-48A>C||||||,C|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.697+2137T>G||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|14/19|c.1504-48A>C||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|14/18|c.1504-48A>C|||||| 22 30412523 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|15/20|c.1510C>T|p.Leu504Leu|1838/8992|1510/3597|504/1198||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|15/20|c.1510C>T|p.Leu504Leu|1838/8908|1510/3513|504/1170||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|15/19|c.1510C>T|p.Leu504Leu|1838/8881|1510/3486|504/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.697+2083G>A|||||| 22 30412701 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|15/19|c.1674+14A>G||||||,G|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.697+1905T>C||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|15/19|c.1674+14A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|15/18|c.1674+14A>G|||||| 22 30413877 . T C . . ANN=C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|15/19|c.1675-39T>C||||||,C|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.697+729A>G||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|15/19|c.1675-39T>C||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|15/18|c.1675-39T>C|||||| 22 30414091 . C T . . ANN=T|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|16/19|c.1820+30C>T||||||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|4/4|n.697+515G>A||||||,T|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|16/19|c.1820+30C>T||||||,T|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|16/18|c.1820+30C>T|||||| 22 30415423 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|16/19|c.1821-46A>G||||||,G|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-705T>C||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|16/19|c.1821-46A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|16/18|c.1821-46A>G|||||| 22 30415666 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2018C>T|p.Pro673Leu|2346/8992|2018/3597|673/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2018C>T|p.Pro673Leu|2346/8908|2018/3513|673/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2018C>T|p.Pro673Leu|2346/8881|2018/3486|673/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-948G>A|||||| 22 30415669 . G T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2021G>T|p.Gly674Val|2349/8992|2021/3597|674/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2021G>T|p.Gly674Val|2349/8908|2021/3513|674/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2021G>T|p.Gly674Val|2349/8881|2021/3486|674/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-951C>A|||||| 22 30415938 . G T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2290G>T|p.Gly764Cys|2618/8992|2290/3597|764/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2290G>T|p.Gly764Cys|2618/8908|2290/3513|764/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2290G>T|p.Gly764Cys|2618/8881|2290/3486|764/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1220C>A|||||| 22 30415940 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2292C>T|p.Gly764Gly|2620/8992|2292/3597|764/1198||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2292C>T|p.Gly764Gly|2620/8908|2292/3513|764/1170||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2292C>T|p.Gly764Gly|2620/8881|2292/3486|764/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1222G>A|||||| 22 30415983 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2335C>T|p.Leu779Phe|2663/8992|2335/3597|779/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2335C>T|p.Leu779Phe|2663/8908|2335/3513|779/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2335C>T|p.Leu779Phe|2663/8881|2335/3486|779/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1265G>A|||||| 22 30416038 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2390G>A|p.Arg797Gln|2718/8992|2390/3597|797/1198||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2390G>A|p.Arg797Gln|2718/8908|2390/3513|797/1170||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2390G>A|p.Arg797Gln|2718/8881|2390/3486|797/1161||,A|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1320C>T|||||| 22 30416057 . G T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2409G>T|p.Glu803Asp|2737/8992|2409/3597|803/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2409G>T|p.Glu803Asp|2737/8908|2409/3513|803/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2409G>T|p.Glu803Asp|2737/8881|2409/3486|803/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1339C>A|||||| 22 30416107 . A G . . ANN=G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2459A>G|p.Tyr820Cys|2787/8992|2459/3597|820/1198||,G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2459A>G|p.Tyr820Cys|2787/8908|2459/3513|820/1170||,G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2459A>G|p.Tyr820Cys|2787/8881|2459/3486|820/1161||,G|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1389T>C|||||| 22 30416131 . T C . . ANN=C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2483T>C|p.Leu828Pro|2811/8992|2483/3597|828/1198||,C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2483T>C|p.Leu828Pro|2811/8908|2483/3513|828/1170||,C|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2483T>C|p.Leu828Pro|2811/8881|2483/3486|828/1161||,C|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1413A>G|||||| 22 30416292 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2644C>T|p.Pro882Ser|2972/8992|2644/3597|882/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2644C>T|p.Pro882Ser|2972/8908|2644/3513|882/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2644C>T|p.Pro882Ser|2972/8881|2644/3486|882/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1574G>A|||||| 22 30416350 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2702G>A|p.Arg901Lys|3030/8992|2702/3597|901/1198||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2702G>A|p.Arg901Lys|3030/8908|2702/3513|901/1170||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2702G>A|p.Arg901Lys|3030/8881|2702/3486|901/1161||,A|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1632C>T|||||| 22 30416362 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2714G>A|p.Gly905Asp|3042/8992|2714/3597|905/1198||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2714G>A|p.Gly905Asp|3042/8908|2714/3513|905/1170||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2714G>A|p.Gly905Asp|3042/8881|2714/3486|905/1161||,A|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1644C>T|||||| 22 30416383 . G A . . ANN=A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2735G>A|p.Arg912His|3063/8992|2735/3597|912/1198||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2735G>A|p.Arg912His|3063/8908|2735/3513|912/1170||,A|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2735G>A|p.Arg912His|3063/8881|2735/3486|912/1161||,A|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1665C>T|||||| 22 30416468 . G A . . ANN=A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2820G>A|p.Glu940Glu|3148/8992|2820/3597|940/1198||,A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2820G>A|p.Glu940Glu|3148/8908|2820/3513|940/1170||,A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2820G>A|p.Glu940Glu|3148/8881|2820/3486|940/1161||,A|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1750C>T|||||| 22 30416486 . C T . . ANN=T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2838C>T|p.Ser946Ser|3166/8992|2838/3597|946/1198||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2838C>T|p.Ser946Ser|3166/8908|2838/3513|946/1170||,T|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2838C>T|p.Ser946Ser|3166/8881|2838/3486|946/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1768G>A|||||| 22 30416490 . C T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2842C>T|p.Leu948Phe|3170/8992|2842/3597|948/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2842C>T|p.Leu948Phe|3170/8908|2842/3513|948/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2842C>T|p.Leu948Phe|3170/8881|2842/3486|948/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1772G>A|||||| 22 30416527 . A G . . ANN=G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2879A>G|p.Asn960Ser|3207/8992|2879/3597|960/1198||,G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2879A>G|p.Asn960Ser|3207/8908|2879/3513|960/1170||,G|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2879A>G|p.Asn960Ser|3207/8881|2879/3486|960/1161||,G|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1809T>C|||||| 22 30416531 . G A . . ANN=A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/20|c.2883G>A|p.Gly961Gly|3211/8992|2883/3597|961/1198||,A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/20|c.2883G>A|p.Gly961Gly|3211/8908|2883/3513|961/1170||,A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/19|c.2883G>A|p.Gly961Gly|3211/8881|2883/3486|961/1161||,A|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-1813C>T|||||| 22 30418004 . T G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|17/19|c.3226-14T>G||||||,G|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-3286A>C||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/19|c.3226-594T>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/18|c.3226-594T>G|||||| 22 30418035 . G A . . ANN=A|synonymous_variant|LOW|MTMR3|MTMR3|transcript|NM_021090.3|Coding|18/20|c.3243G>A|p.Ser1081Ser|3571/8992|3243/3597|1081/1198||,A|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-3317C>T||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/19|c.3226-563G>A||||||,A|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/18|c.3226-563G>A|||||| 22 30418161 . A C . . ANN=C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|18/19|c.3336+33A>C||||||,C|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-3443T>G||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/19|c.3226-437A>C||||||,C|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/18|c.3226-437A>C|||||| 22 30418173 . T G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|18/19|c.3336+45T>G||||||,G|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-3455A>C||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/19|c.3226-425T>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/18|c.3226-425T>G|||||| 22 30418548 . A G . . ANN=G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|18/19|c.3337-50A>G||||||,G|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-3830T>C||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153050.2|Coding|17/19|c.3226-50A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|17/18|c.3226-50A>G|||||| 22 30419479 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|MTMR3|MTMR3|transcript|NM_153050.2|Coding|19/19|c.3341+7A>G||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_021090.3|Coding|19/19|c.3425+793A>G||||||,G|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-4761T>C||||||,G|intron_variant|MODIFIER|MTMR3|MTMR3|transcript|NM_153051.2|Coding|18/18|c.3314+793A>G|||||| 22 30421786 . A T . . ANN=T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_021090.3|Coding|20/20|c.3593A>T|p.Asn1198Ile|3921/8992|3593/3597|1198/1198||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153050.2|Coding|20/20|c.3509A>T|p.Asn1170Ile|3837/8908|3509/3513|1170/1170||,T|missense_variant|MODERATE|MTMR3|MTMR3|transcript|NM_153051.2|Coding|19/19|c.3482A>T|p.Asn1161Ile|3810/8881|3482/3486|1161/1161||,T|intron_variant|MODIFIER|HORMAD2-AS1|HORMAD2-AS1|transcript|NR_110541.1|Noncoding|3/4|n.585-7068T>A|||||| 22 30489945 . G A . . ANN=A|missense_variant|MODERATE|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|2/11|c.4G>A|p.Ala2Thr|69/1895|4/924|2/307|| 22 30494830 . TG T . . ANN=T|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|2/10|c.52-10delG|||||| 22 30494847 . G C . . ANN=C|missense_variant|MODERATE|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|3/11|c.58G>C|p.Val20Leu|123/1895|58/924|20/307|| 22 30494910 . A G . . ANN=G|missense_variant|MODERATE|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|3/11|c.121A>G|p.Thr41Ala|186/1895|121/924|41/307|| 22 30494958 . T C . . ANN=C|missense_variant|MODERATE|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|3/11|c.169T>C|p.Ser57Pro|234/1895|169/924|57/307|| 22 30499392 . T C . . ANN=C|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|3/10|c.194-34T>C|||||| 22 30499486 . G A . . ANN=A|missense_variant|MODERATE|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|4/11|c.254G>A|p.Arg85Lys|319/1895|254/924|85/307|| 22 30500351 . A T . . ANN=T|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|4/10|c.258-39A>T|||||| 22 30500435 . G A . . ANN=A|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|5/10|c.294+9G>A|||||| 22 30507834 . C G . . ANN=G|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|6/10|c.315+29C>G|||||| 22 30515049 . T C . . ANN=C|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|8/10|c.410+13T>C|||||| 22 30515053 . T A . . ANN=A|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|8/10|c.410+17T>A|||||| 22 30517650 . G A . . ANN=A|missense_variant|MODERATE|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|9/11|c.440G>A|p.Gly147Glu|505/1895|440/924|147/307|| 22 30517756 . G C . . ANN=C|missense_variant|MODERATE|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|9/11|c.546G>C|p.Met182Ile|611/1895|546/924|182/307|| 22 30517949 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|9/10|c.569-4G>A|||||| 22 30518166 . G A . . ANN=A|missense_variant|MODERATE|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|10/11|c.782G>A|p.Gly261Asp|847/1895|782/924|261/307|| 22 30518233 . G A . . ANN=A|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|10/10|c.819+30G>A|||||| 22 30572002 . A T . . ANN=T|intron_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|10/10|c.820-50A>T|||||| 22 30572072 . G A . . ANN=A|synonymous_variant|LOW|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|11/11|c.840G>A|p.Val280Val|905/1895|840/924|280/307|| 22 30572192 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|HORMAD2|HORMAD2|transcript|NM_152510.2|Coding|11/11|c.*36A>C|||||36| 22 30639700 . C T . . ANN=T|synonymous_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|3/3|c.549G>A|p.Leu183Leu|705/3969|549/609|183/202||,T|3_prime_UTR_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|2/2|c.*103G>A|||||103| 22 30639745 . G A . . ANN=A|synonymous_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|3/3|c.504C>T|p.Tyr168Tyr|660/3969|504/609|168/202||,A|3_prime_UTR_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|2/2|c.*58C>T|||||58| 22 30639834 . C T . . ANN=T|missense_variant|MODERATE|LIF|LIF|transcript|NM_002309.4|Coding|3/3|c.415G>A|p.Ala139Thr|571/3969|415/609|139/202||,T|missense_variant|MODERATE|LIF|LIF|transcript|NM_001257135.1|Coding|2/2|c.236G>A|p.Arg79His|392/3790|236/267|79/88|| 22 30639835 . G A . . ANN=A|missense_variant|MODERATE|LIF|LIF|transcript|NM_001257135.1|Coding|2/2|c.235C>T|p.Arg79Cys|391/3790|235/267|79/88||,A|synonymous_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|3/3|c.414C>T|p.Asn138Asn|570/3969|414/609|138/202|| 22 30639969 . C T . . ANN=T|missense_variant|MODERATE|LIF|LIF|transcript|NM_002309.4|Coding|3/3|c.280G>A|p.Ala94Thr|436/3969|280/609|94/202||,T|missense_variant|MODERATE|LIF|LIF|transcript|NM_001257135.1|Coding|2/2|c.101G>A|p.Arg34His|257/3790|101/267|34/88|| 22 30639993 . C T . . ANN=T|missense_variant|MODERATE|LIF|LIF|transcript|NM_002309.4|Coding|3/3|c.256G>A|p.Val86Met|412/3969|256/609|86/202||,T|missense_variant|MODERATE|LIF|LIF|transcript|NM_001257135.1|Coding|2/2|c.77G>A|p.Arg26His|233/3790|77/267|26/88|| 22 30639994 . G A . . ANN=A|missense_variant|MODERATE|LIF|LIF|transcript|NM_001257135.1|Coding|2/2|c.76C>T|p.Arg26Cys|232/3790|76/267|26/88||,A|synonymous_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|3/3|c.255C>T|p.Asn85Asn|411/3969|255/609|85/202|| 22 30640044 . C T . . ANN=T|missense_variant|MODERATE|LIF|LIF|transcript|NM_002309.4|Coding|3/3|c.205G>A|p.Ala69Thr|361/3969|205/609|69/202||,T|missense_variant|MODERATE|LIF|LIF|transcript|NM_001257135.1|Coding|2/2|c.26G>A|p.Ser9Asn|182/3790|26/267|9/88|| 22 30640057 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|2/2|c.199-7C>G||||||,C|splice_region_variant&intron_variant|LOW|LIF|LIF|transcript|NM_001257135.1|Coding|1/1|c.20-7C>G|||||| 22 30640765 . G C . . ANN=C|synonymous_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|2/3|c.177C>G|p.Ala59Ala|333/3969|177/609|59/202||,C|intron_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|1/1|c.20-715C>G|||||| 22 30640836 . T C . . ANN=C|missense_variant|MODERATE|LIF|LIF|transcript|NM_002309.4|Coding|2/3|c.106A>G|p.Ile36Val|262/3969|106/609|36/202||,C|intron_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|1/1|c.20-786A>G|||||| 22 30640849 . G A . . ANN=A|synonymous_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|2/3|c.93C>T|p.Asn31Asn|249/3969|93/609|31/202||,A|intron_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|1/1|c.20-799C>T|||||| 22 30640909 . C T . . ANN=T|synonymous_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|2/3|c.33G>A|p.Leu11Leu|189/3969|33/609|11/202||,T|intron_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|1/1|c.20-859G>A|||||| 22 30640926 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LIF|LIF|transcript|NM_002309.4|Coding|1/2|c.20-4C>T||||||,A|intron_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|1/1|c.20-876C>T|||||| 22 30642644 . G A . . ANN=A|intron_variant|MODIFIER|LIF|LIF|transcript|NM_002309.4|Coding|1/2|c.19+22C>T||||||,A|intron_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|1/1|c.19+22C>T|||||| 22 30642652 . G A . . ANN=A|intron_variant|MODIFIER|LIF|LIF|transcript|NM_002309.4|Coding|1/2|c.19+14C>T||||||,A|intron_variant|MODIFIER|LIF|LIF|transcript|NM_001257135.1|Coding|1/1|c.19+14C>T|||||| 22 30659852 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.*20C>T|||||20| 22 30659934 . G A . . ANN=A|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.697C>T|p.Arg233Cys|738/1853|697/759|233/252|| 22 30659983 . C T . . ANN=T|synonymous_variant|LOW|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.648G>A|p.Pro216Pro|689/1853|648/759|216/252|| 22 30659994 . C T . . ANN=T|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.637G>A|p.Gly213Arg|678/1853|637/759|213/252|| 22 30659996 . C A . . ANN=A|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.635G>T|p.Trp212Leu|676/1853|635/759|212/252|| 22 30660085 . C T . . ANN=T|synonymous_variant|LOW|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.546G>A|p.Ser182Ser|587/1853|546/759|182/252|| 22 30660097 . G T . . ANN=T|synonymous_variant|LOW|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.534C>A|p.Pro178Pro|575/1853|534/759|178/252|| 22 30660123 . G C . . ANN=C|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.508C>G|p.Arg170Gly|549/1853|508/759|170/252|| 22 30660177 . A C . . ANN=C|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.454T>G|p.Cys152Gly|495/1853|454/759|152/252|| 22 30660199 . G A . . ANN=A|synonymous_variant|LOW|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.432C>T|p.Leu144Leu|473/1853|432/759|144/252|| 22 30660284 . C T . . ANN=T|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.347G>A|p.Arg116His|388/1853|347/759|116/252|| 22 30660363 . G A . . ANN=A|synonymous_variant|LOW|OSM|OSM|transcript|NM_020530.4|Coding|3/3|c.268C>T|p.Leu90Leu|309/1853|268/759|90/252|| 22 30660478 . G T . . ANN=T|intron_variant|MODIFIER|OSM|OSM|transcript|NM_020530.4|Coding|2/2|c.178-25C>A|||||| 22 30660948 . T G . . ANN=G|intron_variant|MODIFIER|OSM|OSM|transcript|NM_020530.4|Coding|2/2|c.177+43A>C|||||| 22 30661028 . T C . . ANN=C|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|2/3|c.140A>G|p.Asp47Gly|181/1853|140/759|47/252|| 22 30661059 . C T . . ANN=T|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|2/3|c.109G>A|p.Val37Met|150/1853|109/759|37/252|| 22 30662763 . G A . . ANN=A|missense_variant|MODERATE|OSM|OSM|transcript|NM_020530.4|Coding|1/3|c.26C>T|p.Thr9Met|67/1853|26/759|9/252|| 22 30662806 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|OSM|OSM|transcript|NM_020530.4|Coding|1/3|c.-18G>A|||||18| 22 30662813 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|OSM|OSM|transcript|NM_020530.4|Coding|1/3|c.-25G>A|||||25| 22 30662817 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|OSM|OSM|transcript|NM_020530.4|Coding|1/3|c.-29G>A|||||29| 22 30681713 . G A . . ANN=A|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|8/8|c.922-36C>T|||||| 22 30681796 . CT C . . ANN=C|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|8/8|c.921+24delA|||||| 22 30681797 . T TCTGCCCCAGCCCTTGGTGCTCCCC . . ANN=TCTGCCCCAGCCCTTGGTGCTCCCC|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|8/8|c.921+23_921+24insGGGGAGCACCAAGGGCTGGGGCAG|||||| 22 30681977 . G A . . ANN=A|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|7/8|c.826+28C>T|||||| 22 30682006 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|7/9|c.825T>C|p.Phe275Phe|955/1622|825/990|275/329|| 22 30682317 . C T . . ANN=T|synonymous_variant|LOW|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|6/9|c.678G>A|p.Thr226Thr|808/1622|678/990|226/329|| 22 30682404 . C T . . ANN=T|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|5/8|c.630-39G>A|||||| 22 30682767 . T C . . ANN=C|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|5/8|c.629+47A>G|||||| 22 30682865 . G A . . ANN=A|missense_variant|MODERATE|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|5/9|c.578C>T|p.Thr193Met|708/1622|578/990|193/329|| 22 30682874 . T A . . ANN=A|missense_variant|MODERATE|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|5/9|c.569A>T|p.Asp190Val|699/1622|569/990|190/329|| 22 30682971 . C T . . ANN=T|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|4/8|c.506-34G>A|||||| 22 30683105 . G A . . ANN=A|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|4/8|c.505+39C>T|||||| 22 30683285 . C G . . ANN=G|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|3/8|c.373-9G>C|||||| 22 30683474 . G A . . ANN=A|missense_variant|MODERATE|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|3/9|c.260C>T|p.Ala87Val|390/1622|260/990|87/329|| 22 30683560 . G A . . ANN=A|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|2/8|c.185-11C>T|||||| 22 30684777 . T G . . ANN=G|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|1/8|c.114-12A>C|||||| 22 30684781 . G T . . ANN=T|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|1/8|c.114-16C>A|||||| 22 30685364 . G A . . ANN=A|intron_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|1/8|c.113+10C>T|||||| 22 30685495 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|1/9|c.-9C>T|||||9| 22 30685499 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|GATSL3|GATSL3|transcript|NM_001037666.2|Coding|1/9|c.-13C>G|||||13| 22 30688339 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.*25C>T|||||25|,A|3_prime_UTR_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.*25C>T|||||25| 22 30688366 . A G . . ANN=G|stop_lost|HIGH|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1546T>C|p.Ter516Glnext*?|1631/2018|1546/1548|516/515||,G|stop_lost|HIGH|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1525T>C|p.Ter509Glnext*?|1610/1997|1525/1527|509/508|| 22 30688414 . G A . . ANN=A|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1498C>T|p.Arg500Cys|1583/2018|1498/1548|500/515||,A|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1477C>T|p.Arg493Cys|1562/1997|1477/1527|493/508|| 22 30688448 . AGGGGCTGAGTCCTTG A . . ANN=A|disruptive_inframe_deletion|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1449_1463delCAAGGACTCAGCCCC|p.Lys484_Pro488del|1548/2018|1449/1548|483/515||,A|disruptive_inframe_deletion|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1428_1442delCAAGGACTCAGCCCC|p.Lys477_Pro481del|1527/1997|1428/1527|476/508|| 22 30688478 . C T . . ANN=T|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1434G>A|p.Pro478Pro|1519/2018|1434/1548|478/515||,T|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1413G>A|p.Pro471Pro|1498/1997|1413/1527|471/508|| 22 30688486 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1426G>A|p.Val476Met|1511/2018|1426/1548|476/515||,T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1405G>A|p.Val469Met|1490/1997|1405/1527|469/508|| 22 30688488 . T C . . ANN=C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1424A>G|p.His475Arg|1509/2018|1424/1548|475/515||,C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1403A>G|p.His468Arg|1488/1997|1403/1527|468/508|| 22 30688517 . G A . . ANN=A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1395C>T|p.Ala465Ala|1480/2018|1395/1548|465/515||,A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1374C>T|p.Ala458Ala|1459/1997|1374/1527|458/508|| 22 30688540 . G C . . ANN=C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1372C>G|p.Pro458Ala|1457/2018|1372/1548|458/515||,C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1351C>G|p.Pro451Ala|1436/1997|1351/1527|451/508|| 22 30688548 . G A . . ANN=A|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1364C>T|p.Pro455Leu|1449/2018|1364/1548|455/515||,A|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1343C>T|p.Pro448Leu|1428/1997|1343/1527|448/508|| 22 30688602 . T C . . ANN=C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1310A>G|p.Gln437Arg|1395/2018|1310/1548|437/515||,C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1289A>G|p.Gln430Arg|1374/1997|1289/1527|430/508|| 22 30688611 . G C . . ANN=C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1301C>G|p.Pro434Arg|1386/2018|1301/1548|434/515||,C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1280C>G|p.Pro427Arg|1365/1997|1280/1527|427/508|| 22 30688659 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1253G>A|p.Arg418His|1338/2018|1253/1548|418/515||,T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1232G>A|p.Arg411His|1317/1997|1232/1527|411/508|| 22 30688689 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1223G>A|p.Arg408Gln|1308/2018|1223/1548|408/515||,T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1202G>A|p.Arg401Gln|1287/1997|1202/1527|401/508|| 22 30688721 . G A . . ANN=A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1191C>T|p.Ala397Ala|1276/2018|1191/1548|397/515||,A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1170C>T|p.Ala390Ala|1255/1997|1170/1527|390/508|| 22 30688808 . A T . . ANN=T|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1104T>A|p.Ile368Ile|1189/2018|1104/1548|368/515||,T|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1083T>A|p.Ile361Ile|1168/1997|1083/1527|361/508|| 22 30688827 . G A . . ANN=A|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|9/9|c.1085C>T|p.Pro362Leu|1170/2018|1085/1548|362/515||,A|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|9/9|c.1064C>T|p.Pro355Leu|1149/1997|1064/1527|355/508|| 22 30689749 . G A . . ANN=A|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|8/9|c.962C>T|p.Ala321Val|1047/2018|962/1548|321/515||,A|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|8/9|c.941C>T|p.Ala314Val|1026/1997|941/1527|314/508|| 22 30689892 . C G . . ANN=G|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|7/8|c.916+18G>C||||||,G|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|7/8|c.895+18G>C|||||| 22 30689998 . G A . . ANN=A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|7/9|c.828C>T|p.Leu276Leu|913/2018|828/1548|276/515||,A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|7/9|c.807C>T|p.Leu269Leu|892/1997|807/1527|269/508|| 22 30690020 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|7/9|c.806G>A|p.Arg269His|891/2018|806/1548|269/515||,T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|7/9|c.785G>A|p.Arg262His|870/1997|785/1527|262/508|| 22 30690082 . G A . . ANN=A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|7/9|c.744C>T|p.Asp248Asp|829/2018|744/1548|248/515||,A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|7/9|c.723C>T|p.Asp241Asp|808/1997|723/1527|241/508|| 22 30690109 . C T . . ANN=T|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|6/8|c.727-10G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|6/8|c.706-10G>A|||||| 22 30690794 . G A . . ANN=A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|6/9|c.717C>T|p.Ser239Ser|802/2018|717/1548|239/515||,A|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|6/9|c.696C>T|p.Ser232Ser|781/1997|696/1527|232/508|| 22 30690805 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|6/9|c.706G>A|p.Gly236Ser|791/2018|706/1548|236/515||,T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|6/9|c.685G>A|p.Gly229Ser|770/1997|685/1527|229/508|| 22 30690904 . C A . . ANN=A|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|5/8|c.660+26G>T||||||,A|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|5/8|c.639+26G>T|||||| 22 30690945 . C T . . ANN=T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|5/9|c.645G>A|p.Met215Ile|730/2018|645/1548|215/515||,T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|5/9|c.624G>A|p.Met208Ile|709/1997|624/1527|208/508|| 22 30695398 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|3/8|c.438+35C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|3/8|c.417+35C>T|||||| 22 30695423 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|3/8|c.438+10C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|3/8|c.417+10C>T|||||| 22 30695449 . T C . . ANN=C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|3/9|c.422A>G|p.Asn141Ser|507/2018|422/1548|141/515||,C|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|3/9|c.401A>G|p.Asn134Ser|486/1997|401/1527|134/508|| 22 30695459 . A T . . ANN=T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|3/9|c.412T>A|p.Leu138Ile|497/2018|412/1548|138/515||,T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|3/9|c.391T>A|p.Leu131Ile|476/1997|391/1527|131/508|| 22 30700607 . T G . . ANN=G|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|2/9|c.243A>C|p.Val81Val|328/2018|243/1548|81/515||,G|synonymous_variant|LOW|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|2/9|c.222A>C|p.Val74Val|307/1997|222/1527|74/508|| 22 30700657 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|1/8|c.210-17C>T||||||,A|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|1/8|c.210-38C>T|||||| 22 30700669 . C T . . ANN=T|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|1/8|c.210-29G>A||||||,T|intron_variant|MODIFIER|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|1/8|c.210-50G>A|||||| 22 30722834 . G T . . ANN=T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_001204240.1|Coding|1/9|c.37C>A|p.Pro13Thr|122/2018|37/1548|13/515||,T|missense_variant|MODERATE|TBC1D10A|TBC1D10A|transcript|NM_031937.2|Coding|1/9|c.37C>A|p.Pro13Thr|122/1997|37/1527|13/508|| 22 30730541 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|16/16|c.*42C>T|||||42|,A|3_prime_UTR_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|16/16|c.*42C>T|||||42| 22 30730572 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|16/16|c.*11C>A|||||11|,T|3_prime_UTR_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|16/16|c.*11C>A|||||11| 22 30730701 . G A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|15/15|c.2281-17C>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|15/15|c.2086-17C>T|||||| 22 30730711 . A G . . ANN=G|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|15/15|c.2281-27T>C||||||,G|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|15/15|c.2086-27T>C|||||| 22 30731610 . A G . . ANN=G|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|14/15|c.2208+31T>C||||||,G|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|14/15|c.2013+31T>C|||||| 22 30731647 . C T . . ANN=T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|14/16|c.2202G>A|p.Thr734Thr|2334/5120|2202/2382|734/793||,T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|14/16|c.2007G>A|p.Thr669Thr|2139/4925|2007/2187|669/728|| 22 30731782 . G A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|13/15|c.2107-40C>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|13/15|c.1912-40C>T|||||| 22 30733111 . C A . . ANN=A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|13/16|c.2010G>T|p.Val670Val|2142/5120|2010/2382|670/793||,A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|13/16|c.1815G>T|p.Val605Val|1947/4925|1815/2187|605/728|| 22 30733761 . C T . . ANN=T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|12/16|c.1869G>A|p.Ala623Ala|2001/5120|1869/2382|623/793||,T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|12/16|c.1674G>A|p.Ala558Ala|1806/4925|1674/2187|558/728|| 22 30733763 . C T . . ANN=T|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|12/16|c.1867G>A|p.Ala623Thr|1999/5120|1867/2382|623/793||,T|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|12/16|c.1672G>A|p.Ala558Thr|1804/4925|1672/2187|558/728|| 22 30733826 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|12/16|c.1804A>G|p.Met602Val|1936/5120|1804/2382|602/793||,C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|12/16|c.1609A>G|p.Met537Val|1741/4925|1609/2187|537/728|| 22 30733854 . G A . . ANN=A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|12/16|c.1776C>T|p.Ser592Ser|1908/5120|1776/2382|592/793||,A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|12/16|c.1581C>T|p.Ser527Ser|1713/4925|1581/2187|527/728|| 22 30733914 . C A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|11/15|c.1744-28G>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|11/15|c.1549-28G>T|||||| 22 30734739 . G C . . ANN=C|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|11/15|c.1743+39C>G||||||,C|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|11/15|c.1548+39C>G|||||| 22 30734788 . C T . . ANN=T|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|11/16|c.1733G>A|p.Arg578Gln|1865/5120|1733/2382|578/793||,T|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|11/16|c.1538G>A|p.Arg513Gln|1670/4925|1538/2187|513/728|| 22 30735047 . A G . . ANN=G|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|10/15|c.1498-24T>C||||||,G|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|10/15|c.1303-24T>C|||||| 22 30735079 . C CG . . ANN=CG|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|10/15|c.1497+39_1497+40insC||||||,CG|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|10/15|c.1302+39_1302+40insC|||||| 22 30735093 . G A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|10/15|c.1497+26C>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|10/15|c.1302+26C>T|||||| 22 30735185 . G A . . ANN=A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|10/16|c.1431C>T|p.Phe477Phe|1563/5120|1431/2382|477/793||,A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|10/16|c.1236C>T|p.Phe412Phe|1368/4925|1236/2187|412/728|| 22 30736147 . G A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|9/15|c.1375+38C>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|9/15|c.1180+38C>T|||||| 22 30736176 . C T . . ANN=T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|9/15|c.1375+9G>A||||||,T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|9/15|c.1180+9G>A|||||| 22 30736350 . C T . . ANN=T|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|9/16|c.1210G>A|p.Ala404Thr|1342/5120|1210/2382|404/793||,T|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|9/16|c.1015G>A|p.Ala339Thr|1147/4925|1015/2187|339/728|| 22 30736416 . C A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|8/15|c.1190-46G>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|8/15|c.995-46G>T|||||| 22 30736835 . G A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|7/15|c.1072-34C>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|7/15|c.877-34C>T|||||| 22 30737645 . G GA . . ANN=GA|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|7/15|c.1071+35_1071+36insT||||||,GA|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|7/15|c.876+35_876+36insT|||||| 22 30737668 . C T . . ANN=T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|7/15|c.1071+13G>A||||||,T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|7/15|c.876+13G>A|||||| 22 30737748 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|7/16|c.1004A>G|p.Lys335Arg|1136/5120|1004/2382|335/793||,C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|7/16|c.809A>G|p.Lys270Arg|941/4925|809/2187|270/728|| 22 30737771 . G T . . ANN=T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|7/16|c.981C>A|p.Val327Val|1113/5120|981/2382|327/793||,T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|7/16|c.786C>A|p.Val262Val|918/4925|786/2187|262/728|| 22 30737858 . G A . . ANN=A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|7/16|c.894C>T|p.Pro298Pro|1026/5120|894/2382|298/793||,A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|7/16|c.699C>T|p.Pro233Pro|831/4925|699/2187|233/728|| 22 30737881 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|6/15|c.878-7C>T||||||,A|splice_region_variant&intron_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|6/15|c.683-7C>T|||||| 22 30737919 . AC A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|6/15|c.878-46delG||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|6/15|c.683-46delG|||||| 22 30738161 . C T . . ANN=T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|6/15|c.877+28G>A||||||,T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|6/15|c.682+28G>A|||||| 22 30738190 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|6/16|c.876A>G|p.Gln292Gln|1008/5120|876/2382|292/793||,C|splice_region_variant&synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|6/16|c.681A>G|p.Gln227Gln|813/4925|681/2187|227/728|| 22 30740914 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|4/15|c.651+8G>C||||||,G|splice_region_variant&intron_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|4/15|c.456+8G>C|||||| 22 30741021 . C T . . ANN=T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|4/16|c.552G>A|p.Gln184Gln|684/5120|552/2382|184/793||,T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|4/16|c.357G>A|p.Gln119Gln|489/4925|357/2187|119/728|| 22 30741087 . G A . . ANN=A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|4/16|c.486C>T|p.Phe162Phe|618/5120|486/2382|162/793||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/15|c.322-31C>T|||||| 22 30741129 . A G . . ANN=G|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|4/16|c.444T>C|p.Pro148Pro|576/5120|444/2382|148/793||,G|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/15|c.322-73T>C|||||| 22 30741150 . G A,C,T . . ANN=C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|4/16|c.423C>G|p.Ile141Met|555/5120|423/2382|141/793||,A|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|4/16|c.423C>T|p.Ile141Ile|555/5120|423/2382|141/793||,T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|4/16|c.423C>A|p.Ile141Ile|555/5120|423/2382|141/793||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/15|c.322-94C>T||||||,C|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/15|c.322-94C>G||||||,T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/15|c.322-94C>A|||||| 22 30742275 . AGTG A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|3/15|c.393+23_393+25delCAC||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/15|c.321+95_321+97delCAC|||||| 22 30742418 . G T . . ANN=T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_005877.4|Coding|3/16|c.276C>A|p.Ala92Ala|408/5120|276/2382|92/793||,T|synonymous_variant|LOW|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/16|c.276C>A|p.Ala92Ala|408/4925|276/2187|92/728|| 22 30742434 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|3/16|c.260A>G|p.Asn87Ser|392/5120|260/2382|87/793||,C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/16|c.260A>G|p.Asn87Ser|392/4925|260/2187|87/728|| 22 30742468 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|3/16|c.226A>G|p.Ile76Val|358/5120|226/2382|76/793||,C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|3/16|c.226A>G|p.Ile76Val|358/4925|226/2187|76/728|| 22 30742540 . C A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|2/15|c.186-32G>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|2/15|c.186-32G>T|||||| 22 30748927 . G A . . ANN=A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|2/15|c.185+13C>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|2/15|c.185+13C>T|||||| 22 30749058 . T C . . ANN=C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_005877.4|Coding|2/16|c.67A>G|p.Thr23Ala|199/5120|67/2382|23/793||,C|missense_variant|MODERATE|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|2/16|c.67A>G|p.Thr23Ala|199/4925|67/2187|23/728|| 22 30752696 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|1/12|c.-591G>T|||||9294|,T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|1/15|c.63+23C>A||||||,T|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|1/15|c.63+23C>A|||||| 22 30752703 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|1/12|c.-584G>A|||||9287|,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_005877.4|Coding|1/15|c.63+16C>T||||||,A|intron_variant|MODIFIER|SF3A1|SF3A1|transcript|NM_001005409.1|Coding|1/15|c.63+16C>T|||||| 22 30762095 . C T . . ANN=T|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/12|c.106C>T|p.Arg36Cys|766/3003|106/2259|36/752|| 22 30762096 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/12|c.107G>A|p.Arg36His|767/3003|107/2259|36/752|| 22 30762139 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/12|c.150C>T|p.Leu50Leu|810/3003|150/2259|50/752|| 22 30762140 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/12|c.151G>A|p.Asp51Asn|811/3003|151/2259|51/752|| 22 30762151 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/12|c.162C>T|p.Ala54Ala|822/3003|162/2259|54/752|| 22 30762178 . G A . . ANN=A|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/12|c.189G>A|p.Pro63Pro|849/3003|189/2259|63/752|| 22 30762187 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/12|c.198C>T|p.Pro66Pro|858/3003|198/2259|66/752|| 22 30762280 . C T . . ANN=T|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/11|c.248+43C>T|||||| 22 30765380 . C T . . ANN=T|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|3/11|c.249-41C>T||||||,T|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.7025G>A|||||| 22 30765502 . G A . . ANN=A|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|4/12|c.330G>A|p.Ala110Ala|990/3003|330/2259|110/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.6903C>T|||||| 22 30765503 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|4/12|c.331G>A|p.Gly111Arg|991/3003|331/2259|111/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.6902C>T|||||| 22 30765621 . T C . . ANN=C|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|4/11|c.420+29T>C||||||,C|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.6784A>G|||||| 22 30766366 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.472G>A|p.Glu158Lys|1132/3003|472/2259|158/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.6039C>T|||||| 22 30766428 . A G . . ANN=G|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.534A>G|p.Leu178Leu|1194/3003|534/2259|178/752||,G|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5977T>C|||||| 22 30766439 . A G . . ANN=G|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.545A>G|p.Gln182Arg|1205/3003|545/2259|182/752||,G|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5966T>C|||||| 22 30766466 . C T . . ANN=T|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.572C>T|p.Pro191Leu|1232/3003|572/2259|191/752||,T|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5939G>A|||||| 22 30766527 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.633C>T|p.Ser211Ser|1293/3003|633/2259|211/752||,T|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5878G>A|||||| 22 30766535 . T C . . ANN=C|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.641T>C|p.Ile214Thr|1301/3003|641/2259|214/752||,C|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5870A>G|||||| 22 30766542 . G A . . ANN=A|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.648G>A|p.Thr216Thr|1308/3003|648/2259|216/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5863C>T|||||| 22 30766850 . A G . . ANN=G|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.956A>G|p.Lys319Arg|1616/3003|956/2259|319/752||,G|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5555T>C|||||| 22 30766868 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.974G>A|p.Arg325Gln|1634/3003|974/2259|325/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5537C>T|||||| 22 30766905 . T C . . ANN=C|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/12|c.1011T>C|p.Ser337Ser|1671/3003|1011/2259|337/752||,C|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.5500A>G|||||| 22 30767590 . G A . . ANN=A|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|5/11|c.1046-49G>A||||||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4815C>T|||||| 22 30767708 . A G . . ANN=G|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|6/12|c.1115A>G|p.Gln372Arg|1775/3003|1115/2259|372/752||,G|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4697T>C|||||| 22 30767729 . A G . . ANN=G|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|6/11|c.1123+13A>G||||||,G|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4676T>C|||||| 22 30768048 . C T . . ANN=T|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|6/11|c.1124-16C>T||||||,T|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4357G>A|||||| 22 30768118 . GGCAGGTGCAGCAGCTGGAGGA G . . ANN=|inframe_deletion|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/12|c.1192_1212delCTGGAGGAGCAGGTGCAGCAG|p.Leu398_Gln404del|1852/3003|1192/2259|398/752||INFO_REALIGN_3_PRIME,G|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4266_4286delTCCTCCAGCTGCTGCACCTGC|||||| 22 30768234 . AAGG A . . ANN=|inframe_deletion|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/12|c.1297_1299delGAG|p.Glu433del|1957/3003|1297/2259|433/752||INFO_REALIGN_3_PRIME,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4168_4170delCCT|||||| 22 30768265 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/12|c.1325G>A|p.Arg442His|1985/3003|1325/2259|442/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4140C>T|||||| 22 30768269 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/12|c.1329C>T|p.His443His|1989/3003|1329/2259|443/752||,T|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4136G>A|||||| 22 30768297 . G C . . ANN=C|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/11|c.1335+22G>C||||||,C|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4108C>G|||||| 22 30768304 . C T . . ANN=T|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/11|c.1335+29C>T||||||,T|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4101G>A|||||| 22 30768305 . A G . . ANN=G|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/11|c.1335+30A>G||||||,G|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4100T>C|||||| 22 30768321 . G A . . ANN=A|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/11|c.1335+46G>A||||||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.4084C>T|||||| 22 30769572 . C T . . ANN=T|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|7/11|c.1336-14C>T||||||,T|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2833G>A|||||| 22 30769605 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|8/12|c.1355G>A|p.Arg452Gln|2015/3003|1355/2259|452/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2800C>T|||||| 22 30769685 . C T . . ANN=T|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|8/12|c.1435C>T|p.Arg479Trp|2095/3003|1435/2259|479/752||,T|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2720G>A|||||| 22 30769901 . G C . . ANN=C|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|8/11|c.1504-11G>C||||||,C|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2504C>G|||||| 22 30769906 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|8/11|c.1504-6T>C||||||,C|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2499A>G|||||| 22 30769997 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|9/12|c.1589G>A|p.Arg530Gln|2249/3003|1589/2259|530/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2408C>T|||||| 22 30770021 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|9/12|c.1613G>A|p.Arg538Gln|2273/3003|1613/2259|538/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2384C>T|||||| 22 30770027 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|9/12|c.1619G>A|p.Arg540Gln|2279/3003|1619/2259|540/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2378C>T|||||| 22 30770084 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|9/11|c.1672+4G>C||||||,C|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.2321C>G|||||| 22 30771458 . T C . . ANN=C|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|9/11|c.1673-10T>C||||||,C|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.947A>G|||||| 22 30771554 . T G . . ANN=G|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|10/12|c.1759T>G|p.Ser587Ala|2419/3003|1759/2259|587/752||,G|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.851A>C|||||| 22 30771573 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|10/12|c.1778G>A|p.Arg593Gln|2438/3003|1778/2259|593/752||,A|non_coding_exon_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|2/2|n.832C>T|||||| 22 30772208 . C T . . ANN=T|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|10/11|c.1858-40C>T||||||,T|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-199G>A|||||| 22 30772305 . C A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|11/12|c.1915C>A|p.Pro639Thr|2575/3003|1915/2259|639/752||,A|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-296G>T|||||| 22 30772396 . G A . . ANN=A|intron_variant|MODIFIER|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|11/11|c.1947-26G>A||||||,A|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-387C>T|||||| 22 30772424 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|12/12|c.1949C>T|p.Pro650Leu|2609/3003|1949/2259|650/752||,T|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-415G>A|||||| 22 30772457 . C G . . ANN=G|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|12/12|c.1982C>G|p.Thr661Arg|2642/3003|1982/2259|661/752||,G|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-448G>C|||||| 22 30772599 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|12/12|c.2124C>T|p.Ser708Ser|2784/3003|2124/2259|708/752||,T|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-590G>A|||||| 22 30772680 . A G . . ANN=G|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|12/12|c.2205A>G|p.Ser735Ser|2865/3003|2205/2259|735/752||,G|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-671T>C|||||| 22 30772686 . C T . . ANN=T|synonymous_variant|LOW|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|12/12|c.2211C>T|p.Gly737Gly|2871/3003|2211/2259|737/752||,T|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-677G>A|||||| 22 30772687 . C T . . ANN=T|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|12/12|c.2212C>T|p.Arg738Trp|2872/3003|2212/2259|738/752||,T|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-678G>A|||||| 22 30772688 . G A . . ANN=A|missense_variant|MODERATE|CCDC157|CCDC157|transcript|NM_001017437.2|Coding|12/12|c.2213G>A|p.Arg738Gln|2873/3003|2213/2259|738/752||,A|intron_variant|MODIFIER|KIAA1656|KIAA1656|transcript|NR_046312.1|Noncoding|1/1|n.396-679C>T|||||| 22 30775543 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|9/9|c.*46C>T|||||46| 22 30775598 . G A . . ANN=A|synonymous_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|9/9|c.1125C>T|p.Ser375Ser|1125/1920|1125/1134|375/377|| 22 30775675 . G A . . ANN=A|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|8/8|c.1111+25C>T|||||| 22 30775694 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|8/8|c.1111+6C>T|||||| 22 30775729 . G A . . ANN=A|missense_variant|MODERATE|RNF215|RNF215|transcript|NM_001017981.1|Coding|8/9|c.1082C>T|p.Thr361Ile|1082/1920|1082/1134|361/377|| 22 30775766 . G A . . ANN=A|stop_gained|HIGH|RNF215|RNF215|transcript|NM_001017981.1|Coding|8/9|c.1045C>T|p.Arg349*|1045/1920|1045/1134|349/377||;LOF=(RNF215|RNF215|1|1.00);NMD=(RNF215|RNF215|1|1.00) 22 30775815 . G A . . ANN=A|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|7/8|c.1009-13C>T|||||| 22 30776095 . C T . . ANN=T|missense_variant|MODERATE|RNF215|RNF215|transcript|NM_001017981.1|Coding|7/9|c.964G>A|p.Ala322Thr|964/1920|964/1134|322/377|| 22 30776106 . G C . . ANN=C|missense_variant|MODERATE|RNF215|RNF215|transcript|NM_001017981.1|Coding|7/9|c.953C>G|p.Pro318Arg|953/1920|953/1134|318/377|| 22 30776122 . C A . . ANN=A|missense_variant|MODERATE|RNF215|RNF215|transcript|NM_001017981.1|Coding|7/9|c.937G>T|p.Ala313Ser|937/1920|937/1134|313/377|| 22 30776129 . C T . . ANN=T|synonymous_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|7/9|c.930G>A|p.Leu310Leu|930/1920|930/1134|310/377|| 22 30776173 . C T . . ANN=T|missense_variant|MODERATE|RNF215|RNF215|transcript|NM_001017981.1|Coding|7/9|c.886G>A|p.Val296Met|886/1920|886/1134|296/377|| 22 30776199 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|6/8|c.865-5C>G|||||| 22 30776328 . G A . . ANN=A|synonymous_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|6/9|c.807C>T|p.Leu269Leu|807/1920|807/1134|269/377|| 22 30776357 . G A . . ANN=A|synonymous_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|6/9|c.778C>T|p.Leu260Leu|778/1920|778/1134|260/377|| 22 30776404 . C T . . ANN=T|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|5/8|c.745-14G>A|||||| 22 30776419 . T C . . ANN=C|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|5/8|c.745-29A>G|||||| 22 30780285 . G A . . ANN=A|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|5/8|c.744+43C>T|||||| 22 30780307 . A G . . ANN=G|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|5/8|c.744+21T>C|||||| 22 30780351 . C T . . ANN=T|missense_variant|MODERATE|RNF215|RNF215|transcript|NM_001017981.1|Coding|5/9|c.721G>A|p.Gly241Arg|721/1920|721/1134|241/377|| 22 30780397 . G A . . ANN=A|synonymous_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|5/9|c.675C>T|p.Gly225Gly|675/1920|675/1134|225/377|| 22 30780416 . G T . . ANN=T|missense_variant|MODERATE|RNF215|RNF215|transcript|NM_001017981.1|Coding|5/9|c.656C>A|p.Thr219Asn|656/1920|656/1134|219/377|| 22 30780493 . G T . . ANN=T|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|4/8|c.588-9C>A|||||| 22 30780503 . G A . . ANN=A|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|4/8|c.588-19C>T|||||| 22 30780517 . G A . . ANN=A|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|4/8|c.588-33C>T|||||| 22 30782001 . G A . . ANN=A|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|3/8|c.502-23C>T|||||| 22 30782002 . C A . . ANN=A|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|3/8|c.502-24G>T|||||| 22 30782043 . G A . . ANN=A|intron_variant|MODIFIER|RNF215|RNF215|transcript|NM_001017981.1|Coding|3/8|c.501+16C>T|||||| 22 30782089 . A G . . ANN=G|synonymous_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|3/9|c.471T>C|p.Leu157Leu|471/1920|471/1134|157/377|| 22 30782672 . G A . . ANN=A|missense_variant|MODERATE|RNF215|RNF215|transcript|NM_001017981.1|Coding|2/9|c.362C>T|p.Ala121Val|362/1920|362/1134|121/377|| 22 30782722 . C T . . ANN=T|synonymous_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|2/9|c.312G>A|p.Glu104Glu|312/1920|312/1134|104/377|| 22 30782731 . G A . . ANN=A|synonymous_variant|LOW|RNF215|RNF215|transcript|NM_001017981.1|Coding|2/9|c.303C>T|p.Ala101Ala|303/1920|303/1134|101/377|| 22 30793065 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|1/12|c.-41C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|1/11|c.-41C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|1/10|c.-41C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|1/11|c.-127C>T||||||,T|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|1/12|c.-41C>T|||||41|,T|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|1/11|c.-41C>T|||||41|,T|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|1/10|c.-41C>T|||||41|,T|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|1/11|c.-127C>T|||||9298| 22 30793091 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|1/12|c.-15C>A|||||15|,A|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|1/11|c.-15C>A|||||15|,A|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|1/10|c.-15C>A|||||15|,A|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|1/11|c.-101C>A|||||9272| 22 30793103 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|1/12|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|1/11|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|1/10|c.-3A>G|||||3|,G|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|1/11|c.-89A>G|||||9260| 22 30793137 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|1/12|c.32G>A|p.Arg11Lys|208/4283|32/1212|11/403||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|1/11|c.32G>A|p.Arg11Lys|208/1829|32/1179|11/392||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|1/10|c.32G>A|p.Arg11Lys|208/4034|32/963|11/320||,A|5_prime_UTR_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|1/11|c.-55G>A|||||9226| 22 30795636 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|2/12|c.59G>A|p.Arg20Gln|235/4283|59/1212|20/403||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|2/11|c.59G>A|p.Arg20Gln|235/1829|59/1179|20/392||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|2/10|c.59G>A|p.Arg20Gln|235/4034|59/963|20/320||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|1/10|c.-33+2477G>A|||||| 22 30795742 . G C . . ANN=C|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|2/11|c.130+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|2/10|c.130+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|2/9|c.130+35G>C||||||,C|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|1/10|c.-33+2583G>C|||||| 22 30802297 . C A . . ANN=A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|2/11|c.131-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|2/10|c.131-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|2/9|c.131-34C>A||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|1/10|c.-32-34C>A|||||| 22 30802379 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|3/11|c.174+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|3/10|c.174+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+5G>C||||||,C|splice_region_variant&intron_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|2/10|c.12+5G>C|||||| 22 30803096 . C T . . ANN=T|stop_gained|HIGH|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|4/12|c.187C>T|p.Arg63*|363/4283|187/1212|63/403||,T|stop_gained|HIGH|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|4/11|c.187C>T|p.Arg63*|363/1829|187/1179|63/392||,T|stop_gained|HIGH|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|3/11|c.25C>T|p.Arg9*|287/4207|25/1050|9/349||,T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+722C>T||||||;LOF=(SEC14L2|SEC14L2|4|0.75);NMD=(SEC14L2|SEC14L2|4|0.75) 22 30803114 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|4/12|c.205G>A|p.Asp69Asn|381/4283|205/1212|69/403||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|4/11|c.205G>A|p.Asp69Asn|381/1829|205/1179|69/392||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|3/11|c.43G>A|p.Asp15Asn|305/4207|43/1050|15/349||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+740G>A|||||| 22 30803123 . A G . . ANN=G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|4/12|c.214A>G|p.Ile72Val|390/4283|214/1212|72/403||,G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|4/11|c.214A>G|p.Ile72Val|390/1829|214/1179|72/392||,G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|3/11|c.52A>G|p.Ile18Val|314/4207|52/1050|18/349||,G|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+749A>G|||||| 22 30803159 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|4/11|c.234+16C>T||||||,T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|4/10|c.234+16C>T||||||,T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+785C>T||||||,T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|3/10|c.72+16C>T|||||| 22 30803377 . A C . . ANN=C|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|4/11|c.235-27A>C||||||,C|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|4/10|c.235-27A>C||||||,C|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+1003A>C||||||,C|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|3/10|c.73-27A>C|||||| 22 30803469 . C T . . ANN=T|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|5/12|c.300C>T|p.Tyr100Tyr|476/4283|300/1212|100/403||,T|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|5/11|c.300C>T|p.Tyr100Tyr|476/1829|300/1179|100/392||,T|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|4/11|c.138C>T|p.Tyr46Tyr|400/4207|138/1050|46/349||,T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+1095C>T|||||| 22 30803508 . C G . . ANN=G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|5/12|c.339C>G|p.Phe113Leu|515/4283|339/1212|113/403||,G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|5/11|c.339C>G|p.Phe113Leu|515/1829|339/1179|113/392||,G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|4/11|c.177C>G|p.Phe59Leu|439/4207|177/1050|59/349||,G|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+1134C>G|||||| 22 30803555 . A G . . ANN=G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|5/12|c.386A>G|p.Glu129Gly|562/4283|386/1212|129/403||,G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|5/11|c.386A>G|p.Glu129Gly|562/1829|386/1179|129/392||,G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|4/11|c.224A>G|p.Glu75Gly|486/4207|224/1050|75/349||,G|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+1181A>G|||||| 22 30803579 . A G . . ANN=G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|5/12|c.410A>G|p.His137Arg|586/4283|410/1212|137/403||,G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|5/11|c.410A>G|p.His137Arg|586/1829|410/1179|137/392||,G|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|4/11|c.248A>G|p.His83Arg|510/4207|248/1050|83/349||,G|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+1205A>G|||||| 22 30803627 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|5/11|c.423+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|5/10|c.423+35C>T||||||,T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.174+1253C>T||||||,T|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|4/10|c.261+35C>T|||||| 22 30805171 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|5/11|c.424-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|5/10|c.424-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|3/9|c.175-5T>G||||||,G|splice_region_variant&intron_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|4/10|c.262-5T>G|||||| 22 30805295 . AG A . . ANN=A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|6/11|c.519+25delG||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|6/10|c.519+25delG||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|4/9|c.270+25delG||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|5/10|c.357+25delG|||||| 22 30805444 . C T . . ANN=T|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|7/12|c.549C>T|p.Pro183Pro|725/4283|549/1212|183/403||,T|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|7/11|c.549C>T|p.Pro183Pro|725/1829|549/1179|183/392||,T|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|5/10|c.300C>T|p.Pro100Pro|476/4034|300/963|100/320||,T|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|6/11|c.387C>T|p.Pro129Pro|649/4207|387/1050|129/349|| 22 30805457 . C T . . ANN=T|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|7/12|c.562C>T|p.Arg188Cys|738/4283|562/1212|188/403||,T|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|7/11|c.562C>T|p.Arg188Cys|738/1829|562/1179|188/392||,T|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|5/10|c.313C>T|p.Arg105Cys|489/4034|313/963|105/320||,T|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|6/11|c.400C>T|p.Arg134Cys|662/4207|400/1050|134/349|| 22 30805497 . A G . . ANN=G|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|7/11|c.580+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|7/10|c.580+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|5/9|c.331+22A>G||||||,G|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|6/10|c.418+22A>G|||||| 22 30811825 . C T . . ANN=T|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|9/12|c.742C>T|p.Pro248Ser|918/4283|742/1212|248/403||,T|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|9/11|c.742C>T|p.Pro248Ser|918/1829|742/1179|248/392||,T|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|7/10|c.493C>T|p.Pro165Ser|669/4034|493/963|165/320||,T|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|8/11|c.580C>T|p.Pro194Ser|842/4207|580/1050|194/349|| 22 30811904 . C A . . ANN=A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|9/11|c.772-33C>A||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|9/10|c.772-33C>A||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|7/9|c.523-33C>A||||||,A|intron_variant|MODIFIER|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|8/10|c.610-33C>A|||||| 22 30812022 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|10/12|c.857G>A|p.Arg286His|1033/4283|857/1212|286/403||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|10/11|c.857G>A|p.Arg286His|1033/1829|857/1179|286/392||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|8/10|c.608G>A|p.Arg203His|784/4034|608/963|203/320||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|9/11|c.695G>A|p.Arg232His|957/4207|695/1050|232/349|| 22 30812247 . G A . . ANN=A|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|11/12|c.936G>A|p.Ala312Ala|1112/4283|936/1212|312/403||,A|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|11/11|c.936G>A|p.Ala312Ala|1112/1829|936/1179|312/392||,A|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|9/10|c.687G>A|p.Ala229Ala|863/4034|687/963|229/320||,A|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|10/11|c.774G>A|p.Ala258Ala|1036/4207|774/1050|258/349|| 22 30812379 . T C . . ANN=C|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|11/12|c.1068T>C|p.Ser356Ser|1244/4283|1068/1212|356/403||,C|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|11/11|c.1068T>C|p.Ser356Ser|1244/1829|1068/1179|356/392||,C|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|9/10|c.819T>C|p.Ser273Ser|995/4034|819/963|273/320||,C|synonymous_variant|LOW|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|10/11|c.906T>C|p.Ser302Ser|1168/4207|906/1050|302/349|| 22 30812387 . G A . . ANN=A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_012429.4|Coding|11/12|c.1076G>A|p.Gly359Asp|1252/4283|1076/1212|359/403||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_033382.2|Coding|11/11|c.1076G>A|p.Gly359Asp|1252/1829|1076/1179|359/392||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001204204.2|Coding|9/10|c.827G>A|p.Gly276Asp|1003/4034|827/963|276/320||,A|missense_variant|MODERATE|SEC14L2|SEC14L2|transcript|NM_001291932.1|Coding|10/11|c.914G>A|p.Gly305Asp|1176/4207|914/1050|305/349|| 22 30821951 . G A . . ANN=A|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|1/3|c.67+17G>A||||||,A|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|1/2|c.67+17G>A|||||| 22 30822680 . A G . . ANN=G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|1/3|c.68-25A>G||||||,G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|1/2|c.68-25A>G|||||| 22 30822813 . A G . . ANN=G|missense_variant|MODERATE|MTFP1|MTFP1|transcript|NM_016498.4|Coding|2/4|c.176A>G|p.Lys59Arg|433/1278|176/501|59/166||,G|missense_variant|MODERATE|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/3|c.176A>G|p.Lys59Arg|433/1045|176/408|59/135|| 22 30822855 . A AC . . ANN=AC|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|2/3|c.195+23_195+24insC||||||,AC|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+23_195+24insC|||||| 22 30822873 . CT C . . ANN=C|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|2/3|c.195+42delT||||||,C|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+42delT|||||| 22 30823113 . T G . . ANN=G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|2/3|c.196-45T>G||||||,G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+281T>G|||||| 22 30823133 . G A . . ANN=A|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|2/3|c.196-25G>A||||||,A|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+301G>A|||||| 22 30823145 . C G . . ANN=G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|2/3|c.196-13C>G||||||,G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+313C>G|||||| 22 30823148 . C T . . ANN=T|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|2/3|c.196-10C>T||||||,T|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+316C>T|||||| 22 30823196 . T C . . ANN=C|synonymous_variant|LOW|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/4|c.234T>C|p.Thr78Thr|491/1278|234/501|78/166||,C|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+364T>C|||||| 22 30823218 . G T . . ANN=T|missense_variant|MODERATE|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/4|c.256G>T|p.Val86Leu|513/1278|256/501|86/166||,T|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+386G>T|||||| 22 30823230 . C G . . ANN=G|missense_variant|MODERATE|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/4|c.268C>G|p.Leu90Val|525/1278|268/501|90/166||,G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+398C>G|||||| 22 30823250 . G A . . ANN=A|synonymous_variant|LOW|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/4|c.288G>A|p.Pro96Pro|545/1278|288/501|96/166||,A|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+418G>A|||||| 22 30823323 . G A . . ANN=A|missense_variant|MODERATE|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/4|c.361G>A|p.Val121Ile|618/1278|361/501|121/166||,A|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+491G>A|||||| 22 30823346 . G A . . ANN=A|synonymous_variant|LOW|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/4|c.384G>A|p.Ala128Ala|641/1278|384/501|128/166||,A|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+514G>A|||||| 22 30823365 . C A . . ANN=A|missense_variant|MODERATE|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/4|c.403C>A|p.Pro135Thr|660/1278|403/501|135/166||,A|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+533C>A|||||| 22 30823379 . C T . . ANN=T|synonymous_variant|LOW|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/4|c.417C>T|p.His139His|674/1278|417/501|139/166||,T|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.195+547C>T|||||| 22 30824403 . A G . . ANN=G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|3/3|c.429-46A>G||||||,G|intron_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|2/2|c.196-46A>G|||||| 22 30824488 . C T . . ANN=T|synonymous_variant|LOW|MTFP1|MTFP1|transcript|NM_016498.4|Coding|4/4|c.468C>T|p.Leu156Leu|725/1278|468/501|156/166||,T|synonymous_variant|LOW|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|3/3|c.235C>T|p.Leu79Leu|492/1045|235/408|79/135|| 22 30824621 . A T . . ANN=T|missense_variant|MODERATE|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|3/3|c.368A>T|p.Asp123Val|625/1045|368/408|123/135||,T|3_prime_UTR_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|4/4|c.*100A>T|||||100| 22 30824659 . T TA . . ANN=A|frameshift_variant|HIGH|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|3/3|c.407dupA||665/1045|408/408|136/135||INFO_REALIGN_3_PRIME,A|3_prime_UTR_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|4/4|c.*139dupA|||||140|INFO_REALIGN_3_PRIME 22 30824694 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|4/4|c.*173G>A|||||173|,A|3_prime_UTR_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|3/3|c.*33G>A|||||33| 22 30824706 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_016498.4|Coding|4/4|c.*185G>A|||||185|,A|3_prime_UTR_variant|MODIFIER|MTFP1|MTFP1|transcript|NM_001003704.2|Coding|3/3|c.*45G>A|||||45| 22 30855970 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|12/12|c.*38G>T|||||38|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|14/14|c.*38G>T|||||38|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|13/13|c.*38G>T|||||38|,A|3_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|13/13|c.*38G>T|||||38| 22 30856115 . C T . . ANN=T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|12/12|c.1096G>A|p.Asp366Asn|1185/2084|1096/1203|366/400||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|14/14|c.865G>A|p.Asp289Asn|1403/2302|865/972|289/323||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|13/13|c.919G>A|p.Asp307Asn|1233/2132|919/1026|307/341||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|13/13|c.919G>A|p.Asp307Asn|1303/2202|919/1026|307/341|| 22 30856121 . G A . . ANN=A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|12/12|c.1090C>T|p.Arg364Cys|1179/2084|1090/1203|364/400||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|14/14|c.859C>T|p.Arg287Cys|1397/2302|859/972|287/323||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|13/13|c.913C>T|p.Arg305Cys|1227/2132|913/1026|305/341||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|13/13|c.913C>T|p.Arg305Cys|1297/2202|913/1026|305/341|| 22 30856151 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|11/11|c.1082-22C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|13/13|c.851-22C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|12/12|c.905-22C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|12/12|c.905-22C>T|||||| 22 30857287 . G T . . ANN=T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|11/11|c.1081+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|13/13|c.850+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|12/12|c.904+10C>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|12/12|c.904+10C>A|||||| 22 30857329 . T A . . ANN=A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|11/12|c.1049A>T|p.Asp350Val|1138/2084|1049/1203|350/400||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|13/14|c.818A>T|p.Asp273Val|1356/2302|818/972|273/323||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|12/13|c.872A>T|p.Asp291Val|1186/2132|872/1026|291/341||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|12/13|c.872A>T|p.Asp291Val|1256/2202|872/1026|291/341|| 22 30857353 . T C . . ANN=C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|11/12|c.1025A>G|p.Tyr342Cys|1114/2084|1025/1203|342/400||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|13/14|c.794A>G|p.Tyr265Cys|1332/2302|794/972|265/323||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|12/13|c.848A>G|p.Tyr283Cys|1162/2132|848/1026|283/341||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|12/13|c.848A>G|p.Tyr283Cys|1232/2202|848/1026|283/341|| 22 30857373 . A C . . ANN=C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|11/12|c.1005T>G|p.Asp335Glu|1094/2084|1005/1203|335/400||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|13/14|c.774T>G|p.Asp258Glu|1312/2302|774/972|258/323||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|12/13|c.828T>G|p.Asp276Glu|1142/2132|828/1026|276/341||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|12/13|c.828T>G|p.Asp276Glu|1212/2202|828/1026|276/341|| 22 30857438 . T C . . ANN=C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|11/12|c.940A>G|p.Ile314Val|1029/2084|940/1203|314/400||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|13/14|c.709A>G|p.Ile237Val|1247/2302|709/972|237/323||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|12/13|c.763A>G|p.Ile255Val|1077/2132|763/1026|255/341||,C|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|12/13|c.763A>G|p.Ile255Val|1147/2202|763/1026|255/341|| 22 30857448 . A G . . ANN=G|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|11/12|c.930T>C|p.Asp310Asp|1019/2084|930/1203|310/400||,G|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|13/14|c.699T>C|p.Asp233Asp|1237/2302|699/972|233/323||,G|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|12/13|c.753T>C|p.Asp251Asp|1067/2132|753/1026|251/341||,G|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|12/13|c.753T>C|p.Asp251Asp|1137/2202|753/1026|251/341|| 22 30857477 . G GA . . ANN=GA|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|10/11|c.912-12_912-11insT||||||,GA|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|12/13|c.681-12_681-11insT||||||,GA|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|11/12|c.735-12_735-11insT||||||,GA|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|11/12|c.735-12_735-11insT|||||| 22 30857549 . C T . . ANN=T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|10/12|c.904G>A|p.Val302Ile|993/2084|904/1203|302/400||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|12/14|c.673G>A|p.Val225Ile|1211/2302|673/972|225/323||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|11/13|c.727G>A|p.Val243Ile|1041/2132|727/1026|243/341||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|11/13|c.727G>A|p.Val243Ile|1111/2202|727/1026|243/341|| 22 30857619 . G A . . ANN=A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|10/12|c.834C>T|p.Tyr278Tyr|923/2084|834/1203|278/400||,A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|12/14|c.603C>T|p.Tyr201Tyr|1141/2302|603/972|201/323||,A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|11/13|c.657C>T|p.Tyr219Tyr|971/2132|657/1026|219/341||,A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|11/13|c.657C>T|p.Tyr219Tyr|1041/2202|657/1026|219/341|| 22 30857634 . C T . . ANN=T|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|10/12|c.819G>A|p.Gln273Gln|908/2084|819/1203|273/400||,T|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|12/14|c.588G>A|p.Gln196Gln|1126/2302|588/972|196/323||,T|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|11/13|c.642G>A|p.Gln214Gln|956/2132|642/1026|214/341||,T|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|11/13|c.642G>A|p.Gln214Gln|1026/2202|642/1026|214/341|| 22 30857645 . C G . . ANN=G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|10/12|c.808G>C|p.Val270Leu|897/2084|808/1203|270/400||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|12/14|c.577G>C|p.Val193Leu|1115/2302|577/972|193/323||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|11/13|c.631G>C|p.Val211Leu|945/2132|631/1026|211/341||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|11/13|c.631G>C|p.Val211Leu|1015/2202|631/1026|211/341|| 22 30857699 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|9/11|c.772-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|11/13|c.541-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|10/12|c.595-18C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|10/12|c.595-18C>T|||||| 22 30860830 . C T . . ANN=T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|8/12|c.641G>A|p.Arg214His|730/2084|641/1203|214/400||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|10/14|c.410G>A|p.Arg137His|948/2302|410/972|137/323||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|9/13|c.464G>A|p.Arg155His|778/2132|464/1026|155/341||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|9/13|c.464G>A|p.Arg155His|848/2202|464/1026|155/341|| 22 30860831 . G A . . ANN=A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|8/12|c.640C>T|p.Arg214Cys|729/2084|640/1203|214/400||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|10/14|c.409C>T|p.Arg137Cys|947/2302|409/972|137/323||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|9/13|c.463C>T|p.Arg155Cys|777/2132|463/1026|155/341||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|9/13|c.463C>T|p.Arg155Cys|847/2202|463/1026|155/341|| 22 30860934 . T C . . ANN=C|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|7/11|c.581-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|9/13|c.350-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|8/12|c.404-44A>G||||||,C|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|8/12|c.404-44A>G|||||| 22 30862291 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|7/11|c.580+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|9/13|c.349+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|8/12|c.403+30G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|8/12|c.403+30G>A|||||| 22 30862293 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|7/11|c.580+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|9/13|c.349+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|8/12|c.403+28G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|8/12|c.403+28G>A|||||| 22 30862373 . G A . . ANN=A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|7/12|c.528C>T|p.Gly176Gly|617/2084|528/1203|176/400||,A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|9/14|c.297C>T|p.Gly99Gly|835/2302|297/972|99/323||,A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|8/13|c.351C>T|p.Gly117Gly|665/2132|351/1026|117/341||,A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|8/13|c.351C>T|p.Gly117Gly|735/2202|351/1026|117/341|| 22 30862400 . T A . . ANN=A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|6/11|c.520-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|8/13|c.289-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|7/12|c.343-19A>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|7/12|c.343-19A>T|||||| 22 30862941 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|6/11|c.519+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|8/13|c.288+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|7/12|c.342+28C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|7/12|c.342+28C>T|||||| 22 30863040 . C T . . ANN=T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|6/12|c.448G>A|p.Val150Met|537/2084|448/1203|150/400||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|8/14|c.217G>A|p.Val73Met|755/2302|217/972|73/323||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|7/13|c.271G>A|p.Val91Met|585/2132|271/1026|91/341||,T|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|7/13|c.271G>A|p.Val91Met|655/2202|271/1026|91/341|| 22 30864463 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|5/11|c.423+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|7/13|c.192+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|6/12|c.246+32G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|6/12|c.246+32G>A|||||| 22 30864494 . C A . . ANN=A|splice_donor_variant&intron_variant|HIGH|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|5/11|c.423+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|7/13|c.192+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|6/12|c.246+1G>T||||||,A|splice_donor_variant&intron_variant|HIGH|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|6/12|c.246+1G>T||||||;LOF=(SEC14L3|SEC14L3|4|1.00) 22 30864545 . T A . . ANN=A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|5/12|c.373A>T|p.Met125Leu|462/2084|373/1203|125/400||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|7/14|c.142A>T|p.Met48Leu|680/2302|142/972|48/323||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|6/13|c.196A>T|p.Met66Leu|510/2132|196/1026|66/341||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|6/13|c.196A>T|p.Met66Leu|580/2202|196/1026|66/341|| 22 30864610 . A G . . ANN=G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|5/12|c.308T>C|p.Ile103Thr|397/2084|308/1203|103/400||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|7/14|c.77T>C|p.Ile26Thr|615/2302|77/972|26/323||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|6/13|c.131T>C|p.Ile44Thr|445/2132|131/1026|44/341||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|6/13|c.131T>C|p.Ile44Thr|515/2202|131/1026|44/341|| 22 30864655 . A G . . ANN=G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|5/12|c.263T>C|p.Leu88Pro|352/2084|263/1203|88/400||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|7/14|c.32T>C|p.Leu11Pro|570/2302|32/972|11/323||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|6/13|c.86T>C|p.Leu29Pro|400/2132|86/1026|29/341||,G|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|6/13|c.86T>C|p.Leu29Pro|470/2202|86/1026|29/341|| 22 30864692 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|4/11|c.235-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|6/13|c.4-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|5/12|c.58-9C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|5/12|c.58-9C>T|||||| 22 30864720 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|4/11|c.235-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|6/13|c.4-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|5/12|c.58-37G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|5/12|c.58-37G>A|||||| 22 30865966 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|4/11|c.234+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|5/13|c.-168+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|5/12|c.57+40G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|5/12|c.57+40G>A|||||| 22 30865992 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|4/11|c.234+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|5/13|c.-168+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|5/12|c.57+14G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|5/12|c.57+14G>A|||||| 22 30866053 . G A . . ANN=A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|4/12|c.187C>T|p.Arg63Trp|276/2084|187/1203|63/400||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|5/13|c.10C>T|p.Arg4Trp|324/2132|10/1026|4/341||,A|missense_variant|MODERATE|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|5/13|c.10C>T|p.Arg4Trp|394/2202|10/1026|4/341||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|5/14|c.-215C>T||||||,A|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|5/14|c.-215C>T|||||1275| 22 30866272 . C G . . ANN=G|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|2/11|c.131-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|3/13|c.-271-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|3/12|c.-47-30G>C||||||,G|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|3/12|c.-47-30G>C|||||| 22 30866462 . CT C . . ANN=C|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|2/11|c.130+31delA||||||,C|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|3/13|c.-272+31delA||||||,C|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|3/12|c.-48+31delA||||||,C|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|3/12|c.-48+31delA|||||| 22 30866471 . A G . . ANN=G|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|2/11|c.130+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|3/13|c.-272+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|3/12|c.-48+23T>C||||||,G|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|3/12|c.-48+23T>C|||||| 22 30867865 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|1/11|c.54+27G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|1/13|c.-396+27G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|1/12|c.-172+27G>A||||||,T|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|1/12|c.-242+27G>A|||||| 22 30867866 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|1/11|c.54+26C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|1/13|c.-396+26C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|1/12|c.-172+26C>T||||||,A|intron_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|1/12|c.-242+26C>T|||||| 22 30867940 . G A . . ANN=A|synonymous_variant|LOW|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|1/12|c.6C>T|p.Ser2Ser|95/2084|6/1203|2/400||,A|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|1/14|c.-444C>T|||||3162|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|1/13|c.-220C>T|||||1878|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|1/13|c.-290C>T|||||1878| 22 30867965 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|1/12|c.-20C>T|||||20|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|1/14|c.-469C>T|||||3187|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|1/13|c.-245C>T|||||1903|,A|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|1/13|c.-315C>T|||||1903| 22 30867981 . T C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|1/12|c.-36A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|1/14|c.-485A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|1/13|c.-261A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|1/13|c.-331A>G||||||,C|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_174975.4|Coding|1/12|c.-36A>G|||||36|,C|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257378.1|Coding|1/14|c.-485A>G|||||3203|,C|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257379.1|Coding|1/13|c.-261A>G|||||1919|,C|5_prime_UTR_variant|MODIFIER|SEC14L3|SEC14L3|transcript|NM_001257382.1|Coding|1/13|c.-331A>G|||||1919| 22 30886156 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|12/12|c.1159G>A|p.Asp387Asn|1259/2517|1159/1221|387/406||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|11/11|c.1082-291G>A|||||| 22 30886214 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|12/12|c.1101C>T|p.Asn367Asn|1201/2517|1101/1221|367/406||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|11/11|c.1082-349C>T|||||| 22 30886224 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|12/12|c.1091G>A|p.Arg364His|1191/2517|1091/1221|364/406||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|11/11|c.1082-359G>A|||||| 22 30886271 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|11/11|c.1082-38G>A||||||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|11/11|c.1082-406G>A|||||| 22 30887555 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|11/11|c.1081+5G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|11/11|c.1081+5G>A|||||| 22 30887668 . C G . . ANN=G|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|11/12|c.973G>C|p.Gly325Arg|1073/2517|973/1221|325/406||,G|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|11/12|c.973G>C|p.Gly325Arg|1073/2149|973/1083|325/360|| 22 30887919 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|10/12|c.813C>T|p.Cys271Cys|913/2517|813/1221|271/406||,A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|10/12|c.813C>T|p.Cys271Cys|913/2149|813/1083|271/360|| 22 30888412 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|8/11|c.664+49G>A||||||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|8/11|c.664+49G>A|||||| 22 30888485 . G A . . ANN=A|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|8/12|c.640C>T|p.Arg214Cys|740/2517|640/1221|214/406||,A|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|8/12|c.640C>T|p.Arg214Cys|740/2149|640/1083|214/360|| 22 30888492 . C G . . ANN=G|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|8/12|c.633G>C|p.Glu211Asp|733/2517|633/1221|211/406||,G|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|8/12|c.633G>C|p.Glu211Asp|733/2149|633/1083|211/360|| 22 30888494 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|8/12|c.631G>A|p.Glu211Lys|731/2517|631/1221|211/406||,T|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|8/12|c.631G>A|p.Glu211Lys|731/2149|631/1083|211/360|| 22 30888504 . C T . . ANN=T|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|8/12|c.621G>A|p.Ser207Ser|721/2517|621/1221|207/406||,T|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|8/12|c.621G>A|p.Ser207Ser|721/2149|621/1083|207/360|| 22 30888505 . G A . . ANN=A|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|8/12|c.620C>T|p.Ser207Leu|720/2517|620/1221|207/406||,A|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|8/12|c.620C>T|p.Ser207Leu|720/2149|620/1083|207/360|| 22 30888527 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|8/12|c.598G>A|p.Val200Met|698/2517|598/1221|200/406||,T|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|8/12|c.598G>A|p.Val200Met|698/2149|598/1083|200/360|| 22 30888589 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|7/11|c.581-45C>T||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|7/11|c.581-45C>T|||||| 22 30890087 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|7/11|c.580+50G>A||||||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|7/11|c.580+50G>A|||||| 22 30890090 . A G . . ANN=G|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|7/11|c.580+47T>C||||||,G|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|7/11|c.580+47T>C|||||| 22 30890105 . T C . . ANN=C|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|7/11|c.580+32A>G||||||,C|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|7/11|c.580+32A>G|||||| 22 30890129 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|7/11|c.580+8C>T||||||,A|splice_region_variant&intron_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|7/11|c.580+8C>T|||||| 22 30890171 . A G . . ANN=G|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|7/12|c.546T>C|p.Tyr182Tyr|646/2517|546/1221|182/406||,G|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|7/12|c.546T>C|p.Tyr182Tyr|646/2149|546/1083|182/360|| 22 30890223 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|6/11|c.520-26C>T||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|6/11|c.520-26C>T|||||| 22 30890886 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|6/12|c.486C>T|p.His162His|586/2517|486/1221|162/406||,A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|6/12|c.486C>T|p.His162His|586/2149|486/1083|162/360|| 22 30890934 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|6/12|c.438C>T|p.Ile146Ile|538/2517|438/1221|146/406||,A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|6/12|c.438C>T|p.Ile146Ile|538/2149|438/1083|146/360|| 22 30891227 . C A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|5/11|c.423+14G>T||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|5/11|c.423+14G>T|||||| 22 30891232 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|5/11|c.423+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|5/11|c.423+9C>T|||||| 22 30891250 . T C . . ANN=C|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|5/12|c.414A>G|p.Gln138Gln|514/2517|414/1221|138/406||,C|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|5/12|c.414A>G|p.Gln138Gln|514/2149|414/1083|138/360|| 22 30891264 . C A . . ANN=A|stop_gained|HIGH|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|5/12|c.400G>T|p.Glu134*|500/2517|400/1221|134/406||,A|stop_gained|HIGH|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|5/12|c.400G>T|p.Glu134*|500/2149|400/1083|134/360||;LOF=(SEC14L4|SEC14L4|2|1.00);NMD=(SEC14L4|SEC14L4|2|1.00) 22 30891294 . G C . . ANN=C|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|5/12|c.370C>G|p.Arg124Gly|470/2517|370/1221|124/406||,C|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|5/12|c.370C>G|p.Arg124Gly|470/2149|370/1083|124/360|| 22 30891300 . G A . . ANN=A|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|5/12|c.364C>T|p.Arg122Trp|464/2517|364/1221|122/406||,A|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|5/12|c.364C>T|p.Arg122Trp|464/2149|364/1083|122/360|| 22 30891400 . A G . . ANN=G|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|5/12|c.264T>C|p.Leu88Leu|364/2517|264/1221|88/406||,G|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|5/12|c.264T>C|p.Leu88Leu|364/2149|264/1083|88/360|| 22 30891412 . G A . . ANN=A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|5/12|c.252C>T|p.Asp84Asp|352/2517|252/1221|84/406||,A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|5/12|c.252C>T|p.Asp84Asp|352/2149|252/1083|84/360|| 22 30891459 . T A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|4/11|c.235-30A>T||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|4/11|c.235-30A>T|||||| 22 30891560 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|4/11|c.234+10G>A||||||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|4/11|c.234+10G>A|||||| 22 30891561 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|4/11|c.234+9C>T||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|4/11|c.234+9C>T|||||| 22 30891616 . C T . . ANN=T|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|4/12|c.188G>A|p.Arg63Gln|288/2517|188/1221|63/406||,T|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|4/12|c.188G>A|p.Arg63Gln|288/2149|188/1083|63/360|| 22 30891649 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|3/11|c.175-20C>T||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|3/11|c.175-20C>T|||||| 22 30891871 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|3/11|c.174+44G>A||||||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|3/11|c.174+44G>A|||||| 22 30891942 . C A . . ANN=A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|3/12|c.147G>T|p.Leu49Leu|247/2517|147/1221|49/406||,A|synonymous_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|3/12|c.147G>T|p.Leu49Leu|247/2149|147/1083|49/360|| 22 30891967 . AGAG A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|2/11|c.131-12_131-10delCTC||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|2/11|c.131-12_131-10delCTC|||||| 22 30899617 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|2/11|c.130+47G>A||||||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|2/11|c.130+47G>A|||||| 22 30899709 . T G . . ANN=G|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|2/12|c.85A>C|p.Ile29Leu|185/2517|85/1221|29/406||,G|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|2/12|c.85A>C|p.Ile29Leu|185/2149|85/1083|29/360|| 22 30899741 . T A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|1/11|c.55-2A>T||||||,A|splice_acceptor_variant&intron_variant|HIGH|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|1/11|c.55-2A>T||||||;LOF=(SEC14L4|SEC14L4|2|1.00) 22 30899745 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|1/11|c.55-6G>A||||||,T|splice_region_variant&intron_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|1/11|c.55-6G>A|||||| 22 30899785 . G A . . ANN=A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|1/11|c.55-46C>T||||||,A|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|1/11|c.55-46C>T|||||| 22 30901528 . C T . . ANN=T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|1/11|c.54+17G>A||||||,T|intron_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|1/11|c.54+17G>A|||||| 22 30901592 . T C . . ANN=C|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|1/12|c.7A>G|p.Ser3Gly|107/2517|7/1221|3/406||,C|missense_variant|MODERATE|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|1/12|c.7A>G|p.Ser3Gly|107/2149|7/1083|3/360|| 22 30901636 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|1/12|c.-38G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|1/12|c.-38G>T||||||,A|5_prime_UTR_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_174977.3|Coding|1/12|c.-38G>T|||||38|,A|5_prime_UTR_variant|MODIFIER|SEC14L4|SEC14L4|transcript|NM_001161368.1|Coding|1/12|c.-38G>T|||||38| 22 30951199 . T C . . ANN=C|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.1013A>G|p.Asn338Ser|1216/1791|1013/1272|338/423|| 22 30951208 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.1004G>A|p.Arg335His|1207/1791|1004/1272|335/423|| 22 30951226 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.986G>A|p.Arg329His|1189/1791|986/1272|329/423|| 22 30951404 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.808C>T|p.Leu270Leu|1011/1791|808/1272|270/423|| 22 30951450 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.762C>T|p.Tyr254Tyr|965/1791|762/1272|254/423|| 22 30951482 . G C . . ANN=C|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.730C>G|p.Arg244Gly|933/1791|730/1272|244/423|| 22 30951501 . C T . . ANN=T|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.711G>A|p.Glu237Glu|914/1791|711/1272|237/423|| 22 30951651 . G C . . ANN=C|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.561C>G|p.Leu187Leu|764/1791|561/1272|187/423|| 22 30951726 . C T . . ANN=T|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.486G>A|p.Val162Val|689/1791|486/1272|162/423|| 22 30951728 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.484G>A|p.Val162Met|687/1791|484/1272|162/423|| 22 30951813 . G C . . ANN=C|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.399C>G|p.Ala133Ala|602/1791|399/1272|133/423|| 22 30951848 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.364G>A|p.Ala122Thr|567/1791|364/1272|122/423|| 22 30951882 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.330C>T|p.Asn110Asn|533/1791|330/1272|110/423|| 22 30951948 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.264C>T|p.Ser88Ser|467/1791|264/1272|88/423|| 22 30951956 . T C . . ANN=C|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.256A>G|p.Thr86Ala|459/1791|256/1272|86/423|| 22 30951984 . G T . . ANN=T|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.228C>A|p.Arg76Arg|431/1791|228/1272|76/423|| 22 30951985 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.227G>A|p.Arg76His|430/1791|227/1272|76/423|| 22 30952014 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.198C>T|p.Asn66Asn|401/1791|198/1272|66/423|| 22 30952023 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.189C>T|p.Ile63Ile|392/1791|189/1272|63/423|| 22 30952041 . G A . . ANN=A|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.171C>T|p.Leu57Leu|374/1791|171/1272|57/423|| 22 30952062 . C T . . ANN=T|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|4/4|c.150G>A|p.Ala50Ala|353/1791|150/1272|50/423|| 22 30953203 . T C . . ANN=C|intron_variant|MODIFIER|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|3/3|c.131+46A>G|||||| 22 30953261 . C G . . ANN=G|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|3/4|c.119G>C|p.Gly40Ala|322/1791|119/1272|40/423|| 22 30953280 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|3/4|c.100G>A|p.Val34Met|303/1791|100/1272|34/423|| 22 30953295 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|3/4|c.85G>A|p.Val29Met|288/1791|85/1272|29/423|| 22 30953332 . C T . . ANN=T|synonymous_variant|LOW|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|3/4|c.48G>A|p.Leu16Leu|251/1791|48/1272|16/423|| 22 30953352 . C T . . ANN=T|missense_variant|MODERATE|GAL3ST1|GAL3ST1|transcript|NM_004861.1|Coding|3/4|c.28G>A|p.Glu10Lys|231/1791|28/1272|10/423|| 22 30973025 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|15/15|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|15/15|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|17/17|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|17/17|c.*8C>T|||||8| 22 30973075 . C T . . ANN=T|synonymous_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|15/15|c.1725G>A|p.Ala575Ala|1832/2295|1725/1767|575/588||,T|synonymous_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|15/15|c.1710G>A|p.Ala570Ala|1817/2280|1710/1752|570/583||,T|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|17/17|c.1308G>A|p.Ala436Ala|2230/2693|1308/1350|436/449||,T|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|17/17|c.1308G>A|p.Ala436Ala|2277/2740|1308/1350|436/449|| 22 30973076 . G A . . ANN=A|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|15/15|c.1724C>T|p.Ala575Val|1831/2295|1724/1767|575/588||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|15/15|c.1709C>T|p.Ala570Val|1816/2280|1709/1752|570/583||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|17/17|c.1307C>T|p.Ala436Val|2229/2693|1307/1350|436/449||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|17/17|c.1307C>T|p.Ala436Val|2276/2740|1307/1350|436/449|| 22 30973146 . AG A . . ANN=A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|14/14|c.1684-31delC||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|14/14|c.1669-31delC||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|16/16|c.1267-31delC||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|16/16|c.1267-31delC|||||| 22 30973148 . GT G . . ANN=G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|14/14|c.1684-33delA||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|14/14|c.1669-33delA||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|16/16|c.1267-33delA||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|16/16|c.1267-33delA|||||| 22 30973150 . A G . . ANN=G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|14/14|c.1684-34T>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|14/14|c.1669-34T>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|16/16|c.1267-34T>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|16/16|c.1267-34T>C|||||| 22 30974798 . A G . . ANN=G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|14/14|c.1683+26T>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|14/14|c.1668+26T>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|16/16|c.1266+26T>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|16/16|c.1266+26T>C|||||| 22 30975026 . C T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|13/14|c.1522-41G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|13/14|c.1507-41G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|15/16|c.1105-41G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|15/16|c.1105-41G>A|||||| 22 30975119 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|13/14|c.1521+5G>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|13/14|c.1506+5G>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|15/16|c.1104+5G>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|15/16|c.1104+5G>T|||||| 22 30975162 . G C . . ANN=C|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|13/15|c.1483C>G|p.Arg495Gly|1590/2295|1483/1767|495/588||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|13/15|c.1468C>G|p.Arg490Gly|1575/2280|1468/1752|490/583||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|15/17|c.1066C>G|p.Arg356Gly|1988/2693|1066/1350|356/449||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|15/17|c.1066C>G|p.Arg356Gly|2035/2740|1066/1350|356/449|| 22 30975199 . TTCC T . . ANN=T|disruptive_inframe_deletion|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|13/15|c.1443_1445delGGA|p.Glu482del|1552/2295|1443/1767|481/588||,T|disruptive_inframe_deletion|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|13/15|c.1428_1430delGGA|p.Glu477del|1537/2280|1428/1752|476/583||,T|disruptive_inframe_deletion|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|15/17|c.1026_1028delGGA|p.Glu343del|1950/2693|1026/1350|342/449||,T|disruptive_inframe_deletion|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|15/17|c.1026_1028delGGA|p.Glu343del|1997/2740|1026/1350|342/449|| 22 30975286 . G C . . ANN=C|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|13/15|c.1359C>G|p.Asn453Lys|1466/2295|1359/1767|453/588||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|13/15|c.1344C>G|p.Asn448Lys|1451/2280|1344/1752|448/583||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|15/17|c.942C>G|p.Asn314Lys|1864/2693|942/1350|314/449||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|15/17|c.942C>G|p.Asn314Lys|1911/2740|942/1350|314/449|| 22 30975327 . T G . . ANN=G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|12/14|c.1355-37A>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|12/14|c.1340-37A>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|14/16|c.938-37A>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|14/16|c.938-37A>C|||||| 22 30975706 . G A . . ANN=A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|12/14|c.1354+32C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|12/14|c.1339+32C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|14/16|c.937+32C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|14/16|c.937+32C>T|||||| 22 30975789 . C T . . ANN=T|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|12/15|c.1303G>A|p.Val435Ile|1410/2295|1303/1767|435/588||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|12/15|c.1288G>A|p.Val430Ile|1395/2280|1288/1752|430/583||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|14/17|c.886G>A|p.Val296Ile|1808/2693|886/1350|296/449||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|14/17|c.886G>A|p.Val296Ile|1855/2740|886/1350|296/449|| 22 30975861 . C T . . ANN=T|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|12/15|c.1231G>A|p.Ala411Thr|1338/2295|1231/1767|411/588||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|12/15|c.1216G>A|p.Ala406Thr|1323/2280|1216/1752|406/583||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|14/17|c.814G>A|p.Ala272Thr|1736/2693|814/1350|272/449||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|14/17|c.814G>A|p.Ala272Thr|1783/2740|814/1350|272/449|| 22 30975864 . C T . . ANN=T|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|12/15|c.1228G>A|p.Val410Met|1335/2295|1228/1767|410/588||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|12/15|c.1213G>A|p.Val405Met|1320/2280|1213/1752|405/583||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|14/17|c.811G>A|p.Val271Met|1733/2693|811/1350|271/449||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|14/17|c.811G>A|p.Val271Met|1780/2740|811/1350|271/449|| 22 30975865 . G A . . ANN=A|synonymous_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|12/15|c.1227C>T|p.Pro409Pro|1334/2295|1227/1767|409/588||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|12/15|c.1212C>T|p.Pro404Pro|1319/2280|1212/1752|404/583||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|14/17|c.810C>T|p.Pro270Pro|1732/2693|810/1350|270/449||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|14/17|c.810C>T|p.Pro270Pro|1779/2740|810/1350|270/449|| 22 30975882 . C T . . ANN=T|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|12/15|c.1210G>A|p.Ala404Thr|1317/2295|1210/1767|404/588||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|12/15|c.1195G>A|p.Ala399Thr|1302/2280|1195/1752|399/583||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|14/17|c.793G>A|p.Ala265Thr|1715/2693|793/1350|265/449||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|14/17|c.793G>A|p.Ala265Thr|1762/2740|793/1350|265/449|| 22 30976075 . G A . . ANN=A|synonymous_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|11/15|c.1134C>T|p.Val378Val|1241/2295|1134/1767|378/588||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|11/15|c.1119C>T|p.Val373Val|1226/2280|1119/1752|373/583||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|13/17|c.717C>T|p.Val239Val|1639/2693|717/1350|239/449||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|13/17|c.717C>T|p.Val239Val|1686/2740|717/1350|239/449|| 22 30976107 . C T . . ANN=T|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|11/15|c.1102G>A|p.Val368Ile|1209/2295|1102/1767|368/588||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|11/15|c.1087G>A|p.Val363Ile|1194/2280|1087/1752|363/583||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|13/17|c.685G>A|p.Val229Ile|1607/2693|685/1350|229/449||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|13/17|c.685G>A|p.Val229Ile|1654/2740|685/1350|229/449|| 22 30976109 . T A . . ANN=A|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|11/15|c.1100A>T|p.Asp367Val|1207/2295|1100/1767|367/588||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|11/15|c.1085A>T|p.Asp362Val|1192/2280|1085/1752|362/583||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|13/17|c.683A>T|p.Asp228Val|1605/2693|683/1350|228/449||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|13/17|c.683A>T|p.Asp228Val|1652/2740|683/1350|228/449|| 22 30976190 . C T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|10/14|c.1044-25G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|10/14|c.1029-25G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|12/16|c.627-25G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|12/16|c.627-25G>A|||||| 22 30976521 . G A . . ANN=A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|10/14|c.1043+37C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|10/14|c.1028+37C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|12/16|c.626+37C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|12/16|c.626+37C>T|||||| 22 30976572 . C A . . ANN=A|synonymous_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|10/15|c.1029G>T|p.Leu343Leu|1136/2295|1029/1767|343/588||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|10/15|c.1014G>T|p.Leu338Leu|1121/2280|1014/1752|338/583||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|12/17|c.612G>T|p.Leu204Leu|1534/2693|612/1350|204/449||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|12/17|c.612G>T|p.Leu204Leu|1581/2740|612/1350|204/449|| 22 30976660 . C G . . ANN=G|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|10/15|c.941G>C|p.Arg314Thr|1048/2295|941/1767|314/588||,G|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|10/15|c.926G>C|p.Arg309Thr|1033/2280|926/1752|309/583||,G|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|12/17|c.524G>C|p.Arg175Thr|1446/2693|524/1350|175/449||,G|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|12/17|c.524G>C|p.Arg175Thr|1493/2740|524/1350|175/449|| 22 30976704 . C T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|9/14|c.913-16G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|9/14|c.913-31G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|11/16|c.496-16G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|11/16|c.496-16G>A|||||| 22 30976713 . G A . . ANN=A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|9/14|c.913-25C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|9/14|c.913-40C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|11/16|c.496-25C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|11/16|c.496-25C>T|||||| 22 30977131 . C T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|8/14|c.823-43G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|8/14|c.823-43G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|10/16|c.406-43G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|10/16|c.406-43G>A|||||| 22 30977277 . C T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|8/14|c.822+44G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|8/14|c.822+44G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|10/16|c.405+44G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|10/16|c.405+44G>A|||||| 22 30977316 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|8/14|c.822+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|8/14|c.822+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|10/16|c.405+5G>A||||||,T|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|10/16|c.405+5G>A|||||| 22 30977353 . T A . . ANN=A|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|8/15|c.790A>T|p.Thr264Ser|897/2295|790/1767|264/588||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|8/15|c.790A>T|p.Thr264Ser|897/2280|790/1752|264/583||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|10/17|c.373A>T|p.Thr125Ser|1295/2693|373/1350|125/449||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|10/17|c.373A>T|p.Thr125Ser|1342/2740|373/1350|125/449|| 22 30977410 . G T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|7/14|c.748-15C>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|7/14|c.748-15C>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|9/16|c.331-15C>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|9/16|c.331-15C>A|||||| 22 30977444 . C T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|7/14|c.748-49G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|7/14|c.748-49G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|9/16|c.331-49G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|9/16|c.331-49G>A|||||| 22 30977486 . G A . . ANN=A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|7/14|c.747+29C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|7/14|c.747+29C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|9/16|c.330+29C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|9/16|c.330+29C>T|||||| 22 30977576 . G A . . ANN=A|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|7/15|c.686C>T|p.Thr229Met|793/2295|686/1767|229/588||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|7/15|c.686C>T|p.Thr229Met|793/2280|686/1752|229/583||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|9/17|c.269C>T|p.Thr90Met|1191/2693|269/1350|90/449||,A|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|9/17|c.269C>T|p.Thr90Met|1238/2740|269/1350|90/449|| 22 30977634 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|6/14|c.631-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|6/14|c.631-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|8/16|c.214-3C>T||||||,A|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|8/16|c.214-3C>T|||||| 22 30980358 . G A . . ANN=A|synonymous_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|6/15|c.624C>T|p.Ser208Ser|731/2295|624/1767|208/588||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|6/15|c.624C>T|p.Ser208Ser|731/2280|624/1752|208/583||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|8/17|c.207C>T|p.Ser69Ser|1129/2693|207/1350|69/449||,A|synonymous_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|8/17|c.207C>T|p.Ser69Ser|1176/2740|207/1350|69/449|| 22 30980446 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|5/14|c.541-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|5/14|c.541-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|7/16|c.124-5C>G||||||,C|splice_region_variant&intron_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|7/16|c.124-5C>G|||||| 22 30980503 . G C . . ANN=C|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|5/14|c.540+30C>G||||||,C|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|5/14|c.540+30C>G||||||,C|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|7/16|c.123+30C>G||||||,C|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|7/16|c.123+30C>G|||||| 22 30980547 . G C . . ANN=C|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|5/15|c.526C>G|p.Arg176Gly|633/2295|526/1767|176/588||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|5/15|c.526C>G|p.Arg176Gly|633/2280|526/1752|176/583||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|7/17|c.109C>G|p.Arg37Gly|1031/2693|109/1350|37/449||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|7/17|c.109C>G|p.Arg37Gly|1078/2740|109/1350|37/449|| 22 30980610 . C T . . ANN=T|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|5/15|c.463G>A|p.Val155Met|570/2295|463/1767|155/588||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|5/15|c.463G>A|p.Val155Met|570/2280|463/1752|155/583||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282327.1|Coding|7/17|c.46G>A|p.Val16Met|968/2693|46/1350|16/449||,T|missense_variant|MODERATE|PES1|PES1|transcript|NM_001282328.1|Coding|7/17|c.46G>A|p.Val16Met|1015/2740|46/1350|16/449|| 22 30983970 . C T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|3/14|c.258+38G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|3/14|c.258+38G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|5/16|c.-160+38G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|5/16|c.-160+38G>A|||||| 22 30983971 . G A . . ANN=A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|3/14|c.258+37C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|3/14|c.258+37C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|5/16|c.-160+37C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|5/16|c.-160+37C>T|||||| 22 30984027 . T C . . ANN=C|missense_variant|MODERATE|PES1|PES1|transcript|NM_014303.3|Coding|3/15|c.239A>G|p.Asn80Ser|346/2295|239/1767|80/588||,C|missense_variant|MODERATE|PES1|PES1|transcript|NM_001243225.1|Coding|3/15|c.239A>G|p.Asn80Ser|346/2280|239/1752|80/583||,C|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|5/17|c.-179A>G|||||3372|,C|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|5/17|c.-179A>G|||||3372| 22 30984170 . C T . . ANN=T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|2/14|c.105-9G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|2/14|c.105-9G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|4/16|c.-313-9G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|4/16|c.-313-9G>A|||||| 22 30985251 . G A . . ANN=A|stop_gained|HIGH|PES1|PES1|transcript|NM_014303.3|Coding|2/15|c.31C>T|p.Arg11*|138/2295|31/1767|11/588||,A|stop_gained|HIGH|PES1|PES1|transcript|NM_001243225.1|Coding|2/15|c.31C>T|p.Arg11*|138/2280|31/1752|11/583||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PES1|PES1|transcript|NM_001282327.1|Coding|4/17|c.-387C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PES1|PES1|transcript|NM_001282328.1|Coding|4/17|c.-387C>T||||||,A|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|4/17|c.-387C>T|||||4596|,A|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|4/17|c.-387C>T|||||4596|;LOF=(PES1|PES1|4|0.50);NMD=(PES1|PES1|4|0.50) 22 30987750 . C A . . ANN=A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|1/14|c.24+47G>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|1/14|c.24+47G>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|3/16|c.-394+369G>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|3/16|c.-394+369G>T|||||| 22 30987759 . C G . . ANN=G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|1/14|c.24+38G>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|1/14|c.24+38G>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|3/16|c.-394+360G>C||||||,G|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|3/16|c.-394+360G>C|||||| 22 30987822 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|1/15|c.-2C>A|||||2|,T|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|1/15|c.-2C>A|||||2|,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|3/16|c.-394+297C>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|3/16|c.-394+297C>A|||||| 22 30987845 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|1/15|c.-25C>T|||||25|,A|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|1/15|c.-25C>T|||||25|,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|3/16|c.-394+274C>T||||||,A|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|3/16|c.-394+274C>T|||||| 22 30987861 . G C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PES1|PES1|transcript|NM_014303.3|Coding|1/15|c.-41C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PES1|PES1|transcript|NM_001243225.1|Coding|1/15|c.-41C>G||||||,C|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|1/15|c.-41C>G|||||41|,C|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|1/15|c.-41C>G|||||41|,C|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|3/16|c.-394+258C>G||||||,C|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|3/16|c.-394+258C>G|||||| 22 30987864 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_014303.3|Coding|1/15|c.-44G>A|||||44|,T|5_prime_UTR_variant|MODIFIER|PES1|PES1|transcript|NM_001243225.1|Coding|1/15|c.-44G>A|||||44|,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282327.1|Coding|3/16|c.-394+255G>A||||||,T|intron_variant|MODIFIER|PES1|PES1|transcript|NM_001282328.1|Coding|3/16|c.-394+255G>A|||||| 22 31003283 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TCN2|TCN2|transcript|NM_000355.3|Coding|1/9|c.-36C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TCN2|TCN2|transcript|NM_001184726.1|Coding|1/9|c.-36C>T||||||,T|5_prime_UTR_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|1/9|c.-36C>T|||||36|,T|5_prime_UTR_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|1/9|c.-36C>T|||||36| 22 31003285 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|1/9|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|1/9|c.-34A>G|||||34| 22 31003393 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|1/8|c.64+11C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|1/8|c.64+11C>T|||||| 22 31006810 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|1/8|c.65-48C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|1/8|c.65-48C>T|||||| 22 31006841 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|1/8|c.65-17C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|1/8|c.65-17C>T|||||| 22 31006860 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|2/9|c.67A>G|p.Ile23Val|316/2072|67/1284|23/427||,G|missense_variant&splice_region_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|2/9|c.67A>G|p.Ile23Val|316/1991|67/1203|23/400|| 22 31006882 . T G . . ANN=G|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|2/9|c.89T>G|p.Leu30Arg|338/2072|89/1284|30/427||,G|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|2/9|c.89T>G|p.Leu30Arg|338/1991|89/1203|30/400|| 22 31006932 . C A . . ANN=A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|2/9|c.139C>A|p.Leu47Met|388/2072|139/1284|47/427||,A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|2/9|c.139C>A|p.Leu47Met|388/1991|139/1203|47/400|| 22 31006977 . A G . . ANN=G|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|2/9|c.184A>G|p.Ser62Gly|433/2072|184/1284|62/427||,G|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|2/9|c.184A>G|p.Ser62Gly|433/1991|184/1203|62/400|| 22 31006985 . G A . . ANN=A|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_000355.3|Coding|2/9|c.192G>A|p.Gln64Gln|441/2072|192/1284|64/427||,A|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_001184726.1|Coding|2/9|c.192G>A|p.Gln64Gln|441/1991|192/1203|64/400|| 22 31007023 . A T . . ANN=T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|2/9|c.230A>T|p.Lys77Met|479/2072|230/1284|77/427||,T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|2/9|c.230A>T|p.Lys77Met|479/1991|230/1203|77/400|| 22 31007082 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|2/8|c.257+32C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|2/8|c.257+32C>T|||||| 22 31008867 . T C . . ANN=C|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|3/9|c.265T>C|p.Phe89Leu|514/2072|265/1284|89/427||,C|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/9|c.265T>C|p.Phe89Leu|514/1991|265/1203|89/400|| 22 31008882 . G A . . ANN=A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|3/9|c.280G>A|p.Gly94Ser|529/2072|280/1284|94/427||,A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/9|c.280G>A|p.Gly94Ser|529/1991|280/1203|94/400|| 22 31008889 . G A . . ANN=A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|3/9|c.287G>A|p.Cys96Tyr|536/2072|287/1284|96/427||,A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/9|c.287G>A|p.Cys96Tyr|536/1991|287/1203|96/400|| 22 31008962 . G A . . ANN=A|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_000355.3|Coding|3/9|c.360G>A|p.Arg120Arg|609/2072|360/1284|120/427||,A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/8|c.346+14G>A|||||| 22 31009026 . A G . . ANN=G|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|3/9|c.424A>G|p.Ile142Val|673/2072|424/1284|142/427||,G|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/8|c.346+78A>G|||||| 22 31009046 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|3/8|c.427+17C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/8|c.346+98C>T|||||| 22 31009064 . G A . . ANN=A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|3/8|c.427+35G>A||||||,A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/8|c.346+116G>A|||||| 22 31010297 . G T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|3/8|c.428-39G>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/8|c.347-39G>T|||||| 22 31010305 . G A . . ANN=A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|3/8|c.428-31G>A||||||,A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/8|c.347-31G>A|||||| 22 31010313 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|3/8|c.428-23C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|3/8|c.347-23C>T|||||| 22 31010408 . A T . . ANN=T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|4/9|c.500A>T|p.His167Leu|749/2072|500/1284|167/427||,T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|4/9|c.419A>T|p.His140Leu|668/1991|419/1203|140/400|| 22 31010417 . G A . . ANN=A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|4/9|c.509G>A|p.Arg170Gln|758/2072|509/1284|170/427||,A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|4/9|c.428G>A|p.Arg143Gln|677/1991|428/1203|143/400|| 22 31010431 . G A . . ANN=A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|4/9|c.523G>A|p.Val175Met|772/2072|523/1284|175/427||,A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|4/9|c.442G>A|p.Val148Met|691/1991|442/1203|148/400|| 22 31010455 . G A . . ANN=A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|4/9|c.547G>A|p.Val183Met|796/2072|547/1284|183/427||,A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|4/9|c.466G>A|p.Val156Met|715/1991|466/1203|156/400|| 22 31010462 . C T . . ANN=T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|4/9|c.554C>T|p.Pro185Leu|803/2072|554/1284|185/427||,T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|4/9|c.473C>T|p.Pro158Leu|722/1991|473/1203|158/400|| 22 31010504 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|4/8|c.580+16C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|4/8|c.499+16C>T|||||| 22 31010505 . G T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|4/8|c.580+17G>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|4/8|c.499+17G>T|||||| 22 31011280 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|TCN2|TCN2|transcript|NM_000355.3|Coding|4/8|c.581-8A>C||||||,C|splice_region_variant&intron_variant|LOW|TCN2|TCN2|transcript|NM_001184726.1|Coding|4/8|c.500-8A>C|||||| 22 31011330 . G A . . ANN=A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|5/9|c.623G>A|p.Arg208His|872/2072|623/1284|208/427||,A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|5/9|c.542G>A|p.Arg181His|791/1991|542/1203|181/400|| 22 31011350 . C T . . ANN=T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|5/9|c.643C>T|p.Arg215Trp|892/2072|643/1284|215/427||,T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|5/9|c.562C>T|p.Arg188Trp|811/1991|562/1203|188/400|| 22 31011478 . GA G . . ANN=G|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|5/8|c.753+19delA||||||,G|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|5/8|c.672+19delA|||||| 22 31011504 . CAG C . . ANN=C|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|5/8|c.753+45_753+46delAG||||||,C|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|5/8|c.672+45_672+46delAG|||||| 22 31011557 . T C . . ANN=C|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|5/8|c.754-31T>C||||||,C|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|5/8|c.673-31T>C|||||| 22 31011558 . T A . . ANN=A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|5/8|c.754-30T>A||||||,A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|5/8|c.673-30T>A|||||| 22 31011609 . C T . . ANN=T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|6/9|c.775C>T|p.Arg259Cys|1024/2072|775/1284|259/427||,T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/9|c.694C>T|p.Arg232Cys|943/1991|694/1203|232/400|| 22 31011610 . G C . . ANN=C|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|6/9|c.776G>C|p.Arg259Pro|1025/2072|776/1284|259/427||,C|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/9|c.695G>C|p.Arg232Pro|944/1991|695/1203|232/400|| 22 31011618 . G C . . ANN=C|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|6/9|c.784G>C|p.Glu262Gln|1033/2072|784/1284|262/427||,C|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/9|c.703G>C|p.Glu235Gln|952/1991|703/1203|235/400|| 22 31011644 . G A . . ANN=A|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_000355.3|Coding|6/9|c.810G>A|p.Ala270Ala|1059/2072|810/1284|270/427||,A|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/9|c.729G>A|p.Ala243Ala|978/1991|729/1203|243/400|| 22 31011674 . T C . . ANN=C|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_000355.3|Coding|6/9|c.840T>C|p.Asp280Asp|1089/2072|840/1284|280/427||,C|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/9|c.759T>C|p.Asp253Asp|1008/1991|759/1203|253/400|| 22 31011691 . C T . . ANN=T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|6/9|c.857C>T|p.Ala286Val|1106/2072|857/1284|286/427||,T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/9|c.776C>T|p.Ala259Val|1025/1991|776/1203|259/400|| 22 31011711 . C T . . ANN=T|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_000355.3|Coding|6/9|c.877C>T|p.Leu293Leu|1126/2072|877/1284|293/427||,T|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/9|c.796C>T|p.Leu266Leu|1045/1991|796/1203|266/400|| 22 31013284 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|6/8|c.941-33C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/8|c.860-33C>T|||||| 22 31013296 . G A . . ANN=A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|6/8|c.941-21G>A||||||,A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/8|c.860-21G>A|||||| 22 31013304 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|6/8|c.941-13C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/8|c.860-13C>T|||||| 22 31013308 . C T . . ANN=T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|6/8|c.941-9C>T||||||,T|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|6/8|c.860-9C>T|||||| 22 31013374 . C T . . ANN=T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|7/9|c.998C>T|p.Thr333Met|1247/2072|998/1284|333/427||,T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|7/9|c.917C>T|p.Thr306Met|1166/1991|917/1203|306/400|| 22 31013399 . G A . . ANN=A|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_000355.3|Coding|7/9|c.1023G>A|p.Pro341Pro|1272/2072|1023/1284|341/427||,A|synonymous_variant|LOW|TCN2|TCN2|transcript|NM_001184726.1|Coding|7/9|c.942G>A|p.Pro314Pro|1191/1991|942/1203|314/400|| 22 31013419 . C T . . ANN=T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|7/9|c.1043C>T|p.Ser348Phe|1292/2072|1043/1284|348/427||,T|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|7/9|c.962C>T|p.Ser321Phe|1211/1991|962/1203|321/400|| 22 31013532 . A AT . . ANN=AT|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|7/8|c.1106+50_1106+51insT||||||,AT|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|7/8|c.1025+50_1025+51insT|||||| 22 31018914 . C G . . ANN=G|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|7/8|c.1107-41C>G||||||,G|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|7/8|c.1026-41C>G|||||| 22 31018975 . T C . . ANN=C|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|8/9|c.1127T>C|p.Leu376Ser|1376/2072|1127/1284|376/427||,C|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|8/9|c.1046T>C|p.Leu349Ser|1295/1991|1046/1203|349/400|| 22 31019044 . G A . . ANN=A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|8/9|c.1196G>A|p.Arg399Gln|1445/2072|1196/1284|399/427||,A|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|8/9|c.1115G>A|p.Arg372Gln|1364/1991|1115/1203|372/400|| 22 31019094 . G C . . ANN=C|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|8/8|c.1222+24G>C||||||,C|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|8/8|c.1141+24G>C|||||| 22 31019116 . T C . . ANN=C|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|8/8|c.1222+46T>C||||||,C|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|8/8|c.1141+46T>C|||||| 22 31022401 . G A . . ANN=A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|8/8|c.1223-46G>A||||||,A|intron_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|8/8|c.1142-46G>A|||||| 22 31022453 . C G . . ANN=G|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_000355.3|Coding|9/9|c.1229C>G|p.Ala410Gly|1478/2072|1229/1284|410/427||,G|missense_variant|MODERATE|TCN2|TCN2|transcript|NM_001184726.1|Coding|9/9|c.1148C>G|p.Ala383Gly|1397/1991|1148/1203|383/400|| 22 31022537 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|TCN2|TCN2|transcript|NM_000355.3|Coding|9/9|c.*29C>A|||||29|,A|3_prime_UTR_variant|MODIFIER|TCN2|TCN2|transcript|NM_001184726.1|Coding|9/9|c.*29C>A|||||29| 22 31032604 . GGCT G . . ANN=|inframe_deletion|MODERATE|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.172_174delCTG|p.Leu58del|817/2542|172/1053|58/350||INFO_REALIGN_3_PRIME 22 31032608 . GCT G . . ANN=G|frameshift_variant|HIGH|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.172_173delCT|p.Leu58fs|817/2542|172/1053|58/350||;LOF=(SLC35E4|SLC35E4|1|1.00) 22 31032704 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.267G>A|p.Val89Val|912/2542|267/1053|89/350|| 22 31032836 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.399G>A|p.Leu133Leu|1044/2542|399/1053|133/350|| 22 31032881 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.444G>A|p.Leu148Leu|1089/2542|444/1053|148/350|| 22 31032909 . C T . . ANN=T|missense_variant|MODERATE|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.472C>T|p.Arg158Cys|1117/2542|472/1053|158/350|| 22 31032920 . A G . . ANN=G|synonymous_variant|LOW|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.483A>G|p.Pro161Pro|1128/2542|483/1053|161/350|| 22 31032926 . G T . . ANN=T|missense_variant|MODERATE|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.489G>T|p.Gln163His|1134/2542|489/1053|163/350|| 22 31032952 . T G . . ANN=G|missense_variant|MODERATE|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.515T>G|p.Leu172Arg|1160/2542|515/1053|172/350|| 22 31033016 . C T . . ANN=T|synonymous_variant|LOW|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|1/2|c.579C>T|p.Leu193Leu|1224/2542|579/1053|193/350|| 22 31042592 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|2/2|c.627G>A|p.Leu209Leu|1272/2542|627/1053|209/350|| 22 31042606 . G A . . ANN=A|missense_variant|MODERATE|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|2/2|c.641G>A|p.Arg214Lys|1286/2542|641/1053|214/350|| 22 31042664 . G A . . ANN=A|synonymous_variant|LOW|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|2/2|c.699G>A|p.Ala233Ala|1344/2542|699/1053|233/350|| 22 31042881 . C T . . ANN=T|missense_variant|MODERATE|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|2/2|c.916C>T|p.Arg306Cys|1561/2542|916/1053|306/350|| 22 31042955 . C T . . ANN=T|synonymous_variant|LOW|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|2/2|c.990C>T|p.Phe330Phe|1635/2542|990/1053|330/350|| 22 31042974 . C T . . ANN=T|missense_variant|MODERATE|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|2/2|c.1009C>T|p.Arg337Cys|1654/2542|1009/1053|337/350|| 22 31042989 . C T . . ANN=T|missense_variant|MODERATE|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|2/2|c.1024C>T|p.Arg342Trp|1669/2542|1024/1053|342/350|| 22 31043064 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC35E4|SLC35E4|transcript|NM_001001479.2|Coding|2/2|c.*46T>C|||||46| 22 31059380 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.*44A>G|||||44| 22 31059444 . G A . . ANN=A|missense_variant|MODERATE|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.547C>T|p.Arg183Cys|1048/2453|547/567|183/188|| 22 31059446 . A T . . ANN=T|missense_variant|MODERATE|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.545T>A|p.Val182Asp|1046/2453|545/567|182/188|| 22 31059498 . GCA G . . ANN=G|frameshift_variant|HIGH|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.491_492delTG|p.Val164fs|993/2453|491/567|164/188||;LOF=(DUSP18|DUSP18|1|1.00) 22 31059504 . T C . . ANN=C|missense_variant|MODERATE|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.487A>G|p.Thr163Ala|988/2453|487/567|163/188|| 22 31059663 . G A . . ANN=A|missense_variant|MODERATE|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.328C>T|p.Arg110Cys|829/2453|328/567|110/188|| 22 31059865 . A G . . ANN=G|synonymous_variant|LOW|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.126T>C|p.Ser42Ser|627/2453|126/567|42/188|| 22 31059929 . G GA . . ANN=GA|frameshift_variant|HIGH|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.61dupT|p.Ser21fs|562/2453|61/567|21/188||;LOF=(DUSP18|DUSP18|1|1.00) 22 31060029 . G C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.-39C>G||||||,C|5_prime_UTR_variant|MODIFIER|DUSP18|DUSP18|transcript|NM_152511.3|Coding|2/2|c.-39C>G|||||39| 22 31090869 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.-28C>T|||||28|,T|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.-28C>T|||||28|,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+538C>T|||||| 22 31090879 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.-18C>A|||||18|,A|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.-18C>A|||||18|,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+548C>A|||||| 22 31090971 . G C . . ANN=C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.75G>C|p.Thr25Thr|179/4340|75/2751|25/916||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.75G>C|p.Thr25Thr|179/4337|75/2748|25/915||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+640G>C|||||| 22 31091064 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.168C>T|p.Pro56Pro|272/4340|168/2751|56/916||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.168C>T|p.Pro56Pro|272/4337|168/2748|56/915||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+733C>T|||||| 22 31091139 . A G . . ANN=G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.243A>G|p.Glu81Glu|347/4340|243/2751|81/916||,G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.243A>G|p.Glu81Glu|347/4337|243/2748|81/915||,G|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+808A>G|||||| 22 31091154 . G A . . ANN=A|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.258G>A|p.Thr86Thr|362/4340|258/2751|86/916||,A|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.258G>A|p.Thr86Thr|362/4337|258/2748|86/915||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+823G>A|||||| 22 31091250 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.354C>T|p.Pro118Pro|458/4340|354/2751|118/916||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.354C>T|p.Pro118Pro|458/4337|354/2748|118/915||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+919C>T|||||| 22 31091263 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.367G>A|p.Ala123Thr|471/4340|367/2751|123/916||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.367G>A|p.Ala123Thr|471/4337|367/2748|123/915||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+932G>A|||||| 22 31091265 . A G . . ANN=G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.369A>G|p.Ala123Ala|473/4340|369/2751|123/916||,G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.369A>G|p.Ala123Ala|473/4337|369/2748|123/915||,G|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+934A>G|||||| 22 31091305 . C T . . ANN=T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.409C>T|p.Leu137Phe|513/4340|409/2751|137/916||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.409C>T|p.Leu137Phe|513/4337|409/2748|137/915||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+974C>T|||||| 22 31091347 . C T . . ANN=T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.451C>T|p.Pro151Ser|555/4340|451/2751|151/916||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.451C>T|p.Pro151Ser|555/4337|451/2748|151/915||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+1016C>T|||||| 22 31091382 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.486T>C|p.Leu162Leu|590/4340|486/2751|162/916||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.486T>C|p.Leu162Leu|590/4337|486/2748|162/915||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+1051T>C|||||| 22 31091429 . C T . . ANN=T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.533C>T|p.Ala178Val|637/4340|533/2751|178/916||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.533C>T|p.Ala178Val|637/4337|533/2748|178/915||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+1098C>T|||||| 22 31091525 . T G . . ANN=G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|1/14|c.629T>G|p.Leu210Trp|733/4340|629/2751|210/916||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|1/14|c.629T>G|p.Leu210Trp|733/4337|629/2748|210/915||,G|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|2/14|c.149+1194T>G|||||| 22 31137298 . G C . . ANN=C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|2/14|c.795G>C|p.Trp265Cys|899/4340|795/2751|265/916||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|3/15|c.300G>C|p.Trp100Cys|579/4017|300/2253|100/750||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|2/14|c.795G>C|p.Trp265Cys|899/4337|795/2748|265/915|| 22 31266373 . C T . . ANN=T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|2/13|c.854-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|3/14|c.359-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|2/13|c.854-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|1/12|c.-245-43C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|1/12|c.80-43C>T|||||| 22 31266546 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|3/14|c.984T>C|p.Ala328Ala|1088/4340|984/2751|328/916||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|4/15|c.489T>C|p.Ala163Ala|768/4017|489/2253|163/750||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|3/14|c.984T>C|p.Ala328Ala|1088/4337|984/2748|328/915||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|2/13|c.210T>C|p.Ala70Ala|325/3580|210/1980|70/659||,C|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|2/13|c.-115T>C|||||115| 22 31266552 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|3/14|c.990C>T|p.Leu330Leu|1094/4340|990/2751|330/916||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|4/15|c.495C>T|p.Leu165Leu|774/4017|495/2253|165/750||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|3/14|c.990C>T|p.Leu330Leu|1094/4337|990/2748|330/915||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|2/13|c.216C>T|p.Leu72Leu|331/3580|216/1980|72/659||,T|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|2/13|c.-109C>T|||||109| 22 31266574 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|3/14|c.1012G>A|p.Asp338Asn|1116/4340|1012/2751|338/916||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|4/15|c.517G>A|p.Asp173Asn|796/4017|517/2253|173/750||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|3/14|c.1012G>A|p.Asp338Asn|1116/4337|1012/2748|338/915||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|2/13|c.238G>A|p.Asp80Asn|353/3580|238/1980|80/659||,A|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|2/13|c.-87G>A|||||87| 22 31266699 . G A . . ANN=A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|3/13|c.1107+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|4/14|c.612+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|3/13|c.1107+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|2/12|c.9+30G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|2/12|c.333+30G>A|||||| 22 31283376 . A T . . ANN=T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|3/13|c.1108-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|4/14|c.613-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|3/13|c.1108-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|2/12|c.10-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|2/12|c.334-37A>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|1/11|c.-258-37A>T|||||| 22 31283427 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|4/14|c.1122C>T|p.Phe374Phe|1226/4340|1122/2751|374/916||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|5/15|c.627C>T|p.Phe209Phe|906/4017|627/2253|209/750||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|4/14|c.1122C>T|p.Phe374Phe|1226/4337|1122/2748|374/915||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|3/13|c.24C>T|p.Phe8Phe|409/3520|24/1650|8/549||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|3/13|c.348C>T|p.Phe116Phe|463/3580|348/1980|116/659||,T|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-244C>T|||||848| 22 31283492 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|4/14|c.1187G>A|p.Arg396His|1291/4340|1187/2751|396/916||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|5/15|c.692G>A|p.Arg231His|971/4017|692/2253|231/750||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|4/14|c.1187G>A|p.Arg396His|1291/4337|1187/2748|396/915||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|3/13|c.89G>A|p.Arg30His|474/3520|89/1650|30/549||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|3/13|c.413G>A|p.Arg138His|528/3580|413/1980|138/659||,A|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-179G>A|||||783| 22 31283493 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|4/14|c.1188C>T|p.Arg396Arg|1292/4340|1188/2751|396/916||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|5/15|c.693C>T|p.Arg231Arg|972/4017|693/2253|231/750||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|4/14|c.1188C>T|p.Arg396Arg|1292/4337|1188/2748|396/915||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|3/13|c.90C>T|p.Arg30Arg|475/3520|90/1650|30/549||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|3/13|c.414C>T|p.Arg138Arg|529/3580|414/1980|138/659||,T|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-178C>T|||||782| 22 31283494 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|4/14|c.1189G>A|p.Val397Met|1293/4340|1189/2751|397/916||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|5/15|c.694G>A|p.Val232Met|973/4017|694/2253|232/750||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|4/14|c.1189G>A|p.Val397Met|1293/4337|1189/2748|397/915||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|3/13|c.91G>A|p.Val31Met|476/3520|91/1650|31/549||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|3/13|c.415G>A|p.Val139Met|530/3580|415/1980|139/659||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-177G>A||||||,A|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-177G>A|||||781| 22 31283526 . G A . . ANN=A|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|4/14|c.1221G>A|p.Ala407Ala|1325/4340|1221/2751|407/916||,A|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|5/15|c.726G>A|p.Ala242Ala|1005/4017|726/2253|242/750||,A|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|4/14|c.1221G>A|p.Ala407Ala|1325/4337|1221/2748|407/915||,A|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|3/13|c.123G>A|p.Ala41Ala|508/3520|123/1650|41/549||,A|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|3/13|c.447G>A|p.Ala149Ala|562/3580|447/1980|149/659||,A|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-145G>A|||||749| 22 31283544 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|4/14|c.1239C>T|p.Leu413Leu|1343/4340|1239/2751|413/916||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|5/15|c.744C>T|p.Leu248Leu|1023/4017|744/2253|248/750||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|4/14|c.1239C>T|p.Leu413Leu|1343/4337|1239/2748|413/915||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|3/13|c.141C>T|p.Leu47Leu|526/3520|141/1650|47/549||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|3/13|c.465C>T|p.Leu155Leu|580/3580|465/1980|155/659||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-127C>T||||||,T|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-127C>T|||||731| 22 31283602 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|4/14|c.1297G>A|p.Glu433Lys|1401/4340|1297/2751|433/916||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|5/15|c.802G>A|p.Glu268Lys|1081/4017|802/2253|268/750||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|4/14|c.1297G>A|p.Glu433Lys|1401/4337|1297/2748|433/915||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|3/13|c.199G>A|p.Glu67Lys|584/3520|199/1650|67/549||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|3/13|c.523G>A|p.Glu175Lys|638/3580|523/1980|175/659||,A|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|2/12|c.-69G>A|||||673| 22 31284271 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|5/14|c.1362T>C|p.Asp454Asp|1466/4340|1362/2751|454/916||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|6/15|c.867T>C|p.Asp289Asp|1146/4017|867/2253|289/750||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|5/14|c.1362T>C|p.Asp454Asp|1466/4337|1362/2748|454/915||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|4/13|c.264T>C|p.Asp88Asp|649/3520|264/1650|88/549||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|4/13|c.588T>C|p.Asp196Asp|703/3580|588/1980|196/659||,C|5_prime_UTR_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|3/12|c.-4T>C|||||4| 22 31284281 . G T . . ANN=T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|5/14|c.1372G>T|p.Asp458Tyr|1476/4340|1372/2751|458/916||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|6/15|c.877G>T|p.Asp293Tyr|1156/4017|877/2253|293/750||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|5/14|c.1372G>T|p.Asp458Tyr|1476/4337|1372/2748|458/915||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|4/13|c.274G>T|p.Asp92Tyr|659/3520|274/1650|92/549||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|4/13|c.598G>T|p.Asp200Tyr|713/3580|598/1980|200/659||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|3/12|c.7G>T|p.Asp3Tyr|387/3248|7/1383|3/460|| 22 31285136 . T C . . ANN=C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|5/13|c.1419-28T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|6/14|c.924-31T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|5/13|c.1419-31T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|4/12|c.321-31T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|4/12|c.645-28T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|3/11|c.54-31T>C|||||| 22 31285190 . C G . . ANN=G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|6/14|c.1445C>G|p.Thr482Arg|1549/4340|1445/2751|482/916||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|7/15|c.947C>G|p.Thr316Arg|1226/4017|947/2253|316/750||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|6/14|c.1442C>G|p.Thr481Arg|1546/4337|1442/2748|481/915||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|5/13|c.344C>G|p.Thr115Arg|729/3520|344/1650|115/549||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|5/13|c.671C>G|p.Thr224Arg|786/3580|671/1980|224/659||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|4/12|c.77C>G|p.Thr26Arg|457/3248|77/1383|26/460|| 22 31285230 . G C . . ANN=C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|6/13|c.1476+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|7/14|c.978+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|6/13|c.1473+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|5/12|c.375+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|5/12|c.702+9G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|4/11|c.108+9G>C|||||| 22 31285255 . G A . . ANN=A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|6/13|c.1476+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|7/14|c.978+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|6/13|c.1473+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|5/12|c.375+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|5/12|c.702+34G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|4/11|c.108+34G>A|||||| 22 31285271 . G C . . ANN=C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|6/13|c.1476+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|7/14|c.978+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|6/13|c.1473+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|5/12|c.375+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|5/12|c.702+50G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|4/11|c.108+50G>C|||||| 22 31285597 . C T . . ANN=T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|7/14|c.1597C>T|p.Arg533Trp|1701/4340|1597/2751|533/916||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|8/15|c.1099C>T|p.Arg367Trp|1378/4017|1099/2253|367/750||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|7/14|c.1594C>T|p.Arg532Trp|1698/4337|1594/2748|532/915||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|6/13|c.496C>T|p.Arg166Trp|881/3520|496/1650|166/549||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|6/13|c.823C>T|p.Arg275Trp|938/3580|823/1980|275/659||,T|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|5/12|c.229C>T|p.Arg77Trp|609/3248|229/1383|77/460|| 22 31286725 . A G . . ANN=G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|8/14|c.1634A>G|p.Asn545Ser|1738/4340|1634/2751|545/916||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|9/15|c.1136A>G|p.Asn379Ser|1415/4017|1136/2253|379/750||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|8/14|c.1631A>G|p.Asn544Ser|1735/4337|1631/2748|544/915||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|7/13|c.533A>G|p.Asn178Ser|918/3520|533/1650|178/549||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|7/13|c.860A>G|p.Asn287Ser|975/3580|860/1980|287/659||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|6/12|c.266A>G|p.Asn89Ser|646/3248|266/1383|89/460|| 22 31286843 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|8/14|c.1752T>C|p.Ser584Ser|1856/4340|1752/2751|584/916||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|9/15|c.1254T>C|p.Ser418Ser|1533/4017|1254/2253|418/750||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|8/14|c.1749T>C|p.Ser583Ser|1853/4337|1749/2748|583/915||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|7/13|c.651T>C|p.Ser217Ser|1036/3520|651/1650|217/549||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|7/13|c.978T>C|p.Ser326Ser|1093/3580|978/1980|326/659||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|6/12|c.384T>C|p.Ser128Ser|764/3248|384/1383|128/460|| 22 31286928 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|8/14|c.1837G>A|p.Asp613Asn|1941/4340|1837/2751|613/916||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|9/15|c.1339G>A|p.Asp447Asn|1618/4017|1339/2253|447/750||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|8/14|c.1834G>A|p.Asp612Asn|1938/4337|1834/2748|612/915||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|7/13|c.736G>A|p.Asp246Asn|1121/3520|736/1650|246/549||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|7/13|c.1063G>A|p.Asp355Asn|1178/3580|1063/1980|355/659||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|6/12|c.469G>A|p.Asp157Asn|849/3248|469/1383|157/460|| 22 31286965 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|8/13|c.1869+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|9/14|c.1371+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|8/13|c.1866+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|7/12|c.768+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|7/12|c.1095+5G>C||||||,C|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|6/11|c.501+5G>C|||||| 22 31286989 . C T . . ANN=T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|8/13|c.1869+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|9/14|c.1371+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|8/13|c.1866+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|7/12|c.768+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|7/12|c.1095+29C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|6/11|c.501+29C>T|||||| 22 31289092 . T A . . ANN=A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|8/13|c.1870-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|9/14|c.1372-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|8/13|c.1867-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|7/12|c.769-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|7/12|c.1096-17T>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|6/11|c.502-17T>A|||||| 22 31289123 . C G . . ANN=G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|9/14|c.1884C>G|p.Pro628Pro|1988/4340|1884/2751|628/916||,G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|10/15|c.1386C>G|p.Pro462Pro|1665/4017|1386/2253|462/750||,G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|9/14|c.1881C>G|p.Pro627Pro|1985/4337|1881/2748|627/915||,G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|8/13|c.783C>G|p.Pro261Pro|1168/3520|783/1650|261/549||,G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|8/13|c.1110C>G|p.Pro370Pro|1225/3580|1110/1980|370/659||,G|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|7/12|c.516C>G|p.Pro172Pro|896/3248|516/1383|172/460|| 22 31289126 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|9/14|c.1887C>T|p.Pro629Pro|1991/4340|1887/2751|629/916||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|10/15|c.1389C>T|p.Pro463Pro|1668/4017|1389/2253|463/750||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|9/14|c.1884C>T|p.Pro628Pro|1988/4337|1884/2748|628/915||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|8/13|c.786C>T|p.Pro262Pro|1171/3520|786/1650|262/549||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|8/13|c.1113C>T|p.Pro371Pro|1228/3580|1113/1980|371/659||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|7/12|c.519C>T|p.Pro173Pro|899/3248|519/1383|173/460|| 22 31289164 . G A . . ANN=A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|9/14|c.1925G>A|p.Ser642Asn|2029/4340|1925/2751|642/916||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|10/15|c.1427G>A|p.Ser476Asn|1706/4017|1427/2253|476/750||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|9/14|c.1922G>A|p.Ser641Asn|2026/4337|1922/2748|641/915||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|8/13|c.824G>A|p.Ser275Asn|1209/3520|824/1650|275/549||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|8/13|c.1151G>A|p.Ser384Asn|1266/3580|1151/1980|384/659||,A|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|7/12|c.557G>A|p.Ser186Asn|937/3248|557/1383|186/460|| 22 31289232 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|9/13|c.1990+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|10/14|c.1492+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|9/13|c.1987+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|8/12|c.889+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|8/12|c.1216+3G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|7/11|c.622+3G>A|||||| 22 31289244 . G A . . ANN=A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|9/13|c.1990+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|10/14|c.1492+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|9/13|c.1987+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|8/12|c.889+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|8/12|c.1216+15G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|7/11|c.622+15G>A|||||| 22 31289477 . G C . . ANN=C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|10/14|c.2018G>C|p.Ser673Thr|2122/4340|2018/2751|673/916||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|11/15|c.1520G>C|p.Ser507Thr|1799/4017|1520/2253|507/750||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|10/14|c.2015G>C|p.Ser672Thr|2119/4337|2015/2748|672/915||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|9/13|c.917G>C|p.Ser306Thr|1302/3520|917/1650|306/549||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|9/13|c.1244G>C|p.Ser415Thr|1359/3580|1244/1980|415/659||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|8/12|c.650G>C|p.Ser217Thr|1030/3248|650/1383|217/460|| 22 31289563 . G A . . ANN=A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|10/13|c.2094+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|11/14|c.1596+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|10/13|c.2091+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|9/12|c.993+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|9/12|c.1320+10G>A||||||,A|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|8/11|c.726+10G>A|||||| 22 31289570 . G C . . ANN=C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|10/13|c.2094+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|11/14|c.1596+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|10/13|c.2091+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|9/12|c.993+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|9/12|c.1320+17G>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|8/11|c.726+17G>C|||||| 22 31289579 . T C . . ANN=C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|10/13|c.2094+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|11/14|c.1596+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|10/13|c.2091+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|9/12|c.993+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|9/12|c.1320+26T>C||||||,C|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|8/11|c.726+26T>C|||||| 22 31289591 . G T . . ANN=T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|10/13|c.2095-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|11/14|c.1597-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|10/13|c.2092-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|9/12|c.994-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|9/12|c.1321-34G>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|8/11|c.727-34G>T|||||| 22 31289599 . C T . . ANN=T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|10/13|c.2095-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|11/14|c.1597-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|10/13|c.2092-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|9/12|c.994-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|9/12|c.1321-26C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|8/11|c.727-26C>T|||||| 22 31289782 . C T . . ANN=T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|11/13|c.2191-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|12/14|c.1693-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|11/13|c.2188-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|10/12|c.1090-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|10/12|c.1417-22C>T||||||,T|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|9/11|c.823-22C>T|||||| 22 31289891 . A G . . ANN=G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|12/14|c.2278A>G|p.Met760Val|2382/4340|2278/2751|760/916||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|13/15|c.1780A>G|p.Met594Val|2059/4017|1780/2253|594/750||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|12/14|c.2275A>G|p.Met759Val|2379/4337|2275/2748|759/915||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|11/13|c.1177A>G|p.Met393Val|1562/3520|1177/1650|393/549||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|11/13|c.1504A>G|p.Met502Val|1619/3580|1504/1980|502/659||,G|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|10/12|c.910A>G|p.Met304Val|1290/3248|910/1383|304/460|| 22 31289923 . C T . . ANN=T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|12/14|c.2310C>T|p.Asp770Asp|2414/4340|2310/2751|770/916||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|13/15|c.1812C>T|p.Asp604Asp|2091/4017|1812/2253|604/750||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|12/14|c.2307C>T|p.Asp769Asp|2411/4337|2307/2748|769/915||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|11/13|c.1209C>T|p.Asp403Asp|1594/3520|1209/1650|403/549||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|11/13|c.1536C>T|p.Asp512Asp|1651/3580|1536/1980|512/659||,T|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|10/12|c.942C>T|p.Asp314Asp|1322/3248|942/1383|314/460|| 22 31301792 . A AGCCACC . . ANN=AGCCACC|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_030758.3|Coding|12/13|c.2376-32_2376-31insGCCACC||||||,AGCCACC|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|13/14|c.1878-32_1878-31insGCCACC||||||,AGCCACC|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|12/13|c.2373-32_2373-31insGCCACC||||||,AGCCACC|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|11/12|c.1275-32_1275-31insGCCACC||||||,AGCCACC|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|11/12|c.1602-32_1602-31insGCCACC||||||,AGCCACC|intron_variant|MODIFIER|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|10/11|c.1008-32_1008-31insGCCACC|||||| 22 31301817 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|12/13|c.2376-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|13/14|c.1878-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|12/13|c.2373-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|11/12|c.1275-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|11/12|c.1602-7G>A||||||,A|splice_region_variant&intron_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|10/11|c.1008-7G>A|||||| 22 31302233 . T C . . ANN=C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_030758.3|Coding|14/14|c.2658T>C|p.Asp886Asp|2762/4340|2658/2751|886/916||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|15/15|c.2160T>C|p.Asp720Asp|2439/4017|2160/2253|720/750||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|14/14|c.2655T>C|p.Asp885Asp|2759/4337|2655/2748|885/915||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|13/13|c.1557T>C|p.Asp519Asp|1942/3520|1557/1650|519/549||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|13/13|c.1887T>C|p.Asp629Asp|2002/3580|1887/1980|629/659||,C|synonymous_variant|LOW|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|12/12|c.1290T>C|p.Asp430Asp|1670/3248|1290/1383|430/460|| 22 31302243 . G C . . ANN=C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_030758.3|Coding|14/14|c.2668G>C|p.Gly890Arg|2772/4340|2668/2751|890/916||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282738.1|Coding|15/15|c.2170G>C|p.Gly724Arg|2449/4017|2170/2253|724/750||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282739.1|Coding|14/14|c.2665G>C|p.Gly889Arg|2769/4337|2665/2748|889/915||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282740.1|Coding|13/13|c.1567G>C|p.Gly523Arg|1952/3520|1567/1650|523/549||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282741.1|Coding|13/13|c.1897G>C|p.Gly633Arg|2012/3580|1897/1980|633/659||,C|missense_variant|MODERATE|OSBP2|OSBP2|transcript|NM_001282742.1|Coding|12/12|c.1300G>C|p.Gly434Arg|1680/3248|1300/1383|434/460|| 22 31322826 . G A . . ANN=A|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|27/27|c.2877C>T|p.Asp959Asp|4241/4467|2877/2913|959/970|| 22 31323997 . C G . . ANN=G|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|26/26|c.2844+9G>C|||||| 22 31324124 . G C . . ANN=C|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|26/27|c.2726C>G|p.Ser909Cys|4090/4467|2726/2913|909/970|| 22 31324221 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|25/26|c.2656-27C>T|||||| 22 31328325 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|25/26|c.2655+21G>A|||||| 22 31328326 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|25/26|c.2655+20C>T|||||| 22 31328420 . G A . . ANN=A|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|25/27|c.2581C>T|p.Leu861Leu|3945/4467|2581/2913|861/970|| 22 31328525 . CAT C . . ANN=C|splice_region_variant&intron_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|24/26|c.2561+5_2561+6delAT|||||| 22 31328570 . G A . . ANN=A|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|24/27|c.2523C>T|p.Thr841Thr|3887/4467|2523/2913|841/970|| 22 31328601 . C T . . ANN=T|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|24/27|c.2492G>A|p.Arg831His|3856/4467|2492/2913|831/970|| 22 31328630 . G A . . ANN=A|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|24/27|c.2463C>T|p.Val821Val|3827/4467|2463/2913|821/970|| 22 31328696 . G A . . ANN=A|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|24/27|c.2397C>T|p.Ser799Ser|3761/4467|2397/2913|799/970|| 22 31328770 . A G . . ANN=G|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|23/26|c.2337-14T>C|||||| 22 31328841 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|23/26|c.2336+35C>T|||||| 22 31328929 . C G . . ANN=G|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|23/27|c.2283G>C|p.Arg761Arg|3647/4467|2283/2913|761/970|| 22 31329056 . G C . . ANN=C|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|22/26|c.2195-39C>G|||||| 22 31330134 . T C . . ANN=C|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|21/27|c.2052A>G|p.Glu684Glu|3416/4467|2052/2913|684/970|| 22 31330169 . T C . . ANN=C|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|21/27|c.2017A>G|p.Ser673Gly|3381/4467|2017/2913|673/970|| 22 31330837 . C A . . ANN=A|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|20/27|c.1938G>T|p.Glu646Asp|3302/4467|1938/2913|646/970|| 22 31331019 . T C . . ANN=C|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|20/27|c.1756A>G|p.Ser586Gly|3120/4467|1756/2913|586/970|| 22 31331210 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|19/26|c.1626+25G>A|||||| 22 31331293 . C T . . ANN=T|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|19/27|c.1568G>A|p.Arg523His|2932/4467|1568/2913|523/970|| 22 31332494 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|18/26|c.1551+4C>T|||||| 22 31332657 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|17/26|c.1419-27G>A|||||| 22 31332906 . A T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|17/26|c.1418+13T>A|||||| 22 31333033 . A G . . ANN=G|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|16/26|c.1313-9T>C|||||| 22 31333544 . CG C . . ANN=C|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|16/26|c.1312+25delC|||||| 22 31333631 . T C . . ANN=C|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|16/27|c.1251A>G|p.Pro417Pro|2615/4467|1251/2913|417/970|| 22 31333724 . T C . . ANN=C|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|15/26|c.1184-26A>G|||||| 22 31333747 . T C . . ANN=C|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|15/26|c.1184-49A>G|||||| 22 31333797 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|15/26|c.1183+5T>A|||||| 22 31333830 . C T . . ANN=T|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|15/27|c.1155G>A|p.Leu385Leu|2519/4467|1155/2913|385/970|| 22 31334000 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|14/26|c.1029-44C>T|||||| 22 31334011 . A G . . ANN=G|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|14/26|c.1028+41T>C|||||| 22 31334218 . G T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|13/26|c.888-26C>A|||||| 22 31334230 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|13/26|c.888-38C>T|||||| 22 31335643 . G A . . ANN=A|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|13/27|c.852C>T|p.Ala284Ala|2216/4467|852/2913|284/970|| 22 31335724 . T A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|12/26|c.802-31A>T|||||| 22 31335958 . C T . . ANN=T|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|12/27|c.789G>A|p.Thr263Thr|2153/4467|789/2913|263/970|| 22 31335967 . T A . . ANN=A|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|12/27|c.780A>T|p.Gly260Gly|2144/4467|780/2913|260/970|| 22 31336717 . C G . . ANN=G|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|11/26|c.718+28G>C|||||| 22 31337378 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|10/26|c.638+42G>A|||||| 22 31337552 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|9/26|c.513-7T>C|||||| 22 31337565 . A G . . ANN=G|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|9/26|c.513-20T>C|||||| 22 31337579 . CT C . . ANN=C|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|9/26|c.513-35delA|||||| 22 31337581 . G C . . ANN=C|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|9/26|c.513-36C>G|||||| 22 31337589 . A G . . ANN=G|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|9/26|c.513-44T>C|||||| 22 31337950 . T C . . ANN=C|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|9/27|c.440A>G|p.Asn147Ser|1804/4467|440/2913|147/970|| 22 31338017 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|8/26|c.401-28G>A|||||| 22 31338027 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|8/26|c.401-38C>T|||||| 22 31338030 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|8/26|c.401-41G>A|||||| 22 31338050 . A T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|8/26|c.400+49T>A|||||| 22 31338069 . C T . . ANN=T|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|8/26|c.400+30G>A|||||| 22 31338196 . C A . . ANN=A|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|8/27|c.303G>T|p.Glu101Asp|1667/4467|303/2913|101/970|| 22 31338246 . G A . . ANN=A|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|8/27|c.253C>T|p.Leu85Leu|1617/4467|253/2913|85/970|| 22 31342283 . CAG C . . ANN=C|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|7/26|c.240+43_240+44delCT|||||| 22 31342349 . A G . . ANN=G|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|7/27|c.219T>C|p.His73His|1583/4467|219/2913|73/970|| 22 31342355 . C T . . ANN=T|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|7/27|c.213G>A|p.Thr71Thr|1577/4467|213/2913|71/970|| 22 31342376 . G C . . ANN=C|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|7/27|c.192C>G|p.Thr64Thr|1556/4467|192/2913|64/970|| 22 31342429 . T C . . ANN=C|missense_variant|MODERATE|MORC2|MORC2|transcript|NM_014941.1|Coding|7/27|c.139A>G|p.Met47Val|1503/4467|139/2913|47/970|| 22 31345821 . A C . . ANN=C|synonymous_variant|LOW|MORC2|MORC2|transcript|NM_014941.1|Coding|6/27|c.48T>G|p.Ala16Ala|1412/4467|48/2913|16/970|| 22 31345878 . G A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|5/26|c.41-50C>T|||||| 22 31346345 . A G . . ANN=G|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|5/26|c.40+18T>C|||||| 22 31346442 . AG A . . ANN=A|intron_variant|MODIFIER|MORC2|MORC2|transcript|NM_014941.1|Coding|4/26|c.-29-12delC|||||| 22 31479234 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|2/21|c.152G>A|p.Gly51Glu|213/3228|152/3009|51/1002||,A|5_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|2/20|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|2/21|c.-11G>A|||||11|,A|5_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|2/21|c.-11G>A|||||11| 22 31479282 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|2/21|c.200C>T|p.Ala67Val|261/3228|200/3009|67/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|2/20|c.38C>T|p.Ala13Val|279/3153|38/2754|13/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|2/21|c.38C>T|p.Ala13Val|279/3318|38/2748|13/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|2/21|c.38C>T|p.Ala13Val|279/3222|38/2823|13/940|| 22 31479328 . G A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|2/20|c.213+33G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|2/19|c.51+33G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|2/20|c.51+33G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|2/20|c.51+33G>A|||||| 22 31483908 . G A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|2/20|c.214-43G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|2/19|c.52-43G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|2/20|c.52-43G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|2/20|c.52-43G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|1/19|c.220-43G>A|||||| 22 31483934 . T C . . ANN=C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|2/20|c.214-17T>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|2/19|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|2/20|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|2/20|c.52-17T>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|1/19|c.220-17T>C|||||| 22 31484003 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|3/21|c.266G>A|p.Arg89Gln|327/3228|266/3009|89/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|3/20|c.104G>A|p.Arg35Gln|345/3153|104/2754|35/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|3/21|c.104G>A|p.Arg35Gln|345/3318|104/2748|35/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|3/21|c.104G>A|p.Arg35Gln|345/3222|104/2823|35/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|2/20|c.272G>A|p.Arg91Gln|349/3322|272/2916|91/971|| 22 31484055 . G A . . ANN=A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|3/21|c.318G>A|p.Lys106Lys|379/3228|318/3009|106/1002||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|3/20|c.156G>A|p.Lys52Lys|397/3153|156/2754|52/917||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|3/21|c.156G>A|p.Lys52Lys|397/3318|156/2748|52/915||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|3/21|c.156G>A|p.Lys52Lys|397/3222|156/2823|52/940||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|2/20|c.324G>A|p.Lys108Lys|401/3322|324/2916|108/971|| 22 31484483 . C T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|3/20|c.363-16C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|3/19|c.201-16C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|3/20|c.201-16C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|3/20|c.201-16C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|2/19|c.369-16C>T|||||| 22 31484604 . G T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|4/20|c.456+12G>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|4/19|c.294+12G>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|4/20|c.294+12G>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|4/20|c.294+12G>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|3/19|c.462+12G>T|||||| 22 31484880 . G A . . ANN=A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|6/21|c.558G>A|p.Leu186Leu|619/3228|558/3009|186/1002||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|6/20|c.396G>A|p.Leu132Leu|637/3153|396/2754|132/917||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|6/21|c.396G>A|p.Leu132Leu|637/3318|396/2748|132/915||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|6/21|c.396G>A|p.Leu132Leu|637/3222|396/2823|132/940||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|5/20|c.564G>A|p.Leu188Leu|641/3322|564/2916|188/971|| 22 31484930 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|6/21|c.608C>T|p.Ala203Val|669/3228|608/3009|203/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|6/20|c.446C>T|p.Ala149Val|687/3153|446/2754|149/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|6/21|c.446C>T|p.Ala149Val|687/3318|446/2748|149/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|6/21|c.446C>T|p.Ala149Val|687/3222|446/2823|149/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|5/20|c.614C>T|p.Ala205Val|691/3322|614/2916|205/971|| 22 31485000 . AC A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|6/20|c.633+46delC||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|6/19|c.471+46delC||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|6/20|c.471+46delC||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|6/20|c.471+46delC||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|5/19|c.639+46delC|||||| 22 31485002 . C T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|6/20|c.633+47C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|6/19|c.471+47C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|6/20|c.471+47C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|6/20|c.471+47C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|5/19|c.639+47C>T|||||| 22 31485687 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|7/21|c.636G>A|p.Val212Val|697/3228|636/3009|212/1002||,A|splice_region_variant&synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|7/20|c.474G>A|p.Val158Val|715/3153|474/2754|158/917||,A|splice_region_variant&synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|7/21|c.474G>A|p.Val158Val|715/3318|474/2748|158/915||,A|splice_region_variant&synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|7/21|c.474G>A|p.Val158Val|715/3222|474/2823|158/940||,A|splice_region_variant&synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|6/20|c.642G>A|p.Val214Val|719/3322|642/2916|214/971|| 22 31485749 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|7/21|c.698G>A|p.Gly233Asp|759/3228|698/3009|233/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|7/20|c.536G>A|p.Gly179Asp|777/3153|536/2754|179/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|7/21|c.536G>A|p.Gly179Asp|777/3318|536/2748|179/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|7/21|c.536G>A|p.Gly179Asp|777/3222|536/2823|179/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|6/20|c.704G>A|p.Gly235Asp|781/3322|704/2916|235/971|| 22 31485865 . T C . . ANN=C|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|7/21|c.814T>C|p.Leu272Leu|875/3228|814/3009|272/1002||,C|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|7/20|c.652T>C|p.Leu218Leu|893/3153|652/2754|218/917||,C|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|7/21|c.652T>C|p.Leu218Leu|893/3318|652/2748|218/915||,C|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|7/21|c.652T>C|p.Leu218Leu|893/3222|652/2823|218/940||,C|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|6/20|c.820T>C|p.Leu274Leu|897/3322|820/2916|274/971|| 22 31485923 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|7/21|c.872C>T|p.Pro291Leu|933/3228|872/3009|291/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|7/20|c.710C>T|p.Pro237Leu|951/3153|710/2754|237/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|7/21|c.710C>T|p.Pro237Leu|951/3318|710/2748|237/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|7/21|c.710C>T|p.Pro237Leu|951/3222|710/2823|237/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|6/20|c.878C>T|p.Pro293Leu|955/3322|878/2916|293/971|| 22 31486760 . C T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|8/20|c.1028-34C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|8/19|c.866-34C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|8/20|c.866-34C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|8/20|c.866-34C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|7/19|c.1034-34C>T|||||| 22 31486774 . C A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|8/20|c.1028-20C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|8/19|c.866-20C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|8/20|c.866-20C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|8/20|c.866-20C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|7/19|c.1034-20C>A|||||| 22 31486785 . A T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|8/20|c.1028-9A>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|8/19|c.866-9A>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|8/20|c.866-9A>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|8/20|c.866-9A>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|7/19|c.1034-9A>T|||||| 22 31486870 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|9/20|c.1099+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|9/19|c.937+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|9/20|c.937+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|9/20|c.937+5T>C||||||,C|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|8/19|c.1105+5T>C|||||| 22 31486900 . C T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|9/20|c.1099+35C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|9/19|c.937+35C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|9/20|c.937+35C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|9/20|c.937+35C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|8/19|c.1105+35C>T|||||| 22 31486911 . C G . . ANN=G|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|9/20|c.1100-36C>G||||||,G|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|9/19|c.938-36C>G||||||,G|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|9/20|c.938-36C>G||||||,G|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|9/20|c.938-36C>G||||||,G|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|8/19|c.1106-36C>G|||||| 22 31486985 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|10/21|c.1138C>T|p.Arg380Trp|1199/3228|1138/3009|380/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|10/20|c.976C>T|p.Arg326Trp|1217/3153|976/2754|326/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|10/21|c.976C>T|p.Arg326Trp|1217/3318|976/2748|326/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|10/21|c.976C>T|p.Arg326Trp|1217/3222|976/2823|326/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|9/20|c.1144C>T|p.Arg382Trp|1221/3322|1144/2916|382/971|| 22 31487064 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|10/21|c.1217C>T|p.Pro406Leu|1278/3228|1217/3009|406/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|10/20|c.1055C>T|p.Pro352Leu|1296/3153|1055/2754|352/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|10/21|c.1055C>T|p.Pro352Leu|1296/3318|1055/2748|352/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|10/21|c.1055C>T|p.Pro352Leu|1296/3222|1055/2823|352/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|9/20|c.1223C>T|p.Pro408Leu|1300/3322|1223/2916|408/971|| 22 31487268 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|10/21|c.1421G>A|p.Gly474Asp|1482/3228|1421/3009|474/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|10/20|c.1259G>A|p.Gly420Asp|1500/3153|1259/2754|420/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|10/21|c.1259G>A|p.Gly420Asp|1500/3318|1259/2748|420/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|10/21|c.1259G>A|p.Gly420Asp|1500/3222|1259/2823|420/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|9/20|c.1427G>A|p.Gly476Asp|1504/3322|1427/2916|476/971|| 22 31487354 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|10/21|c.1507G>A|p.Gly503Ser|1568/3228|1507/3009|503/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|10/20|c.1345G>A|p.Gly449Ser|1586/3153|1345/2754|449/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|10/21|c.1345G>A|p.Gly449Ser|1586/3318|1345/2748|449/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|10/21|c.1345G>A|p.Gly449Ser|1586/3222|1345/2823|449/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|9/20|c.1513G>A|p.Gly505Ser|1590/3322|1513/2916|505/971|| 22 31487510 . G A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|10/20|c.1621+42G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|10/19|c.1459+42G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|10/20|c.1459+42G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|10/20|c.1459+42G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|9/19|c.1627+42G>A|||||| 22 31487512 . A T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|10/20|c.1621+44A>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|10/19|c.1459+44A>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|10/20|c.1459+44A>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|10/20|c.1459+44A>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|9/19|c.1627+44A>T|||||| 22 31487679 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1640G>A|p.Arg547Gln|1701/3228|1640/3009|547/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1478G>A|p.Arg493Gln|1719/3153|1478/2754|493/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1478G>A|p.Arg493Gln|1719/3318|1478/2748|493/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1478G>A|p.Arg493Gln|1719/3222|1478/2823|493/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1646G>A|p.Arg549Gln|1723/3322|1646/2916|549/971|| 22 31487682 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1643C>T|p.Ala548Val|1704/3228|1643/3009|548/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1481C>T|p.Ala494Val|1722/3153|1481/2754|494/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1481C>T|p.Ala494Val|1722/3318|1481/2748|494/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1481C>T|p.Ala494Val|1722/3222|1481/2823|494/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1649C>T|p.Ala550Val|1726/3322|1649/2916|550/971|| 22 31487693 . C T . . ANN=T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1654C>T|p.Leu552Leu|1715/3228|1654/3009|552/1002||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1492C>T|p.Leu498Leu|1733/3153|1492/2754|498/917||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1492C>T|p.Leu498Leu|1733/3318|1492/2748|498/915||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1492C>T|p.Leu498Leu|1733/3222|1492/2823|498/940||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1660C>T|p.Leu554Leu|1737/3322|1660/2916|554/971|| 22 31487701 . C T . . ANN=T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1662C>T|p.Ser554Ser|1723/3228|1662/3009|554/1002||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1500C>T|p.Ser500Ser|1741/3153|1500/2754|500/917||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1500C>T|p.Ser500Ser|1741/3318|1500/2748|500/915||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1500C>T|p.Ser500Ser|1741/3222|1500/2823|500/940||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1668C>T|p.Ser556Ser|1745/3322|1668/2916|556/971|| 22 31487704 . C T . . ANN=T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1665C>T|p.Thr555Thr|1726/3228|1665/3009|555/1002||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1503C>T|p.Thr501Thr|1744/3153|1503/2754|501/917||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1503C>T|p.Thr501Thr|1744/3318|1503/2748|501/915||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1503C>T|p.Thr501Thr|1744/3222|1503/2823|501/940||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1671C>T|p.Thr557Thr|1748/3322|1671/2916|557/971|| 22 31487706 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1667G>A|p.Ser556Asn|1728/3228|1667/3009|556/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1505G>A|p.Ser502Asn|1746/3153|1505/2754|502/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1505G>A|p.Ser502Asn|1746/3318|1505/2748|502/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1505G>A|p.Ser502Asn|1746/3222|1505/2823|502/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1673G>A|p.Ser558Asn|1750/3322|1673/2916|558/971|| 22 31487732 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1693C>T|p.Arg565Cys|1754/3228|1693/3009|565/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1531C>T|p.Arg511Cys|1772/3153|1531/2754|511/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1531C>T|p.Arg511Cys|1772/3318|1531/2748|511/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1531C>T|p.Arg511Cys|1772/3222|1531/2823|511/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1699C>T|p.Arg567Cys|1776/3322|1699/2916|567/971|| 22 31487733 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1694G>A|p.Arg565His|1755/3228|1694/3009|565/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1532G>A|p.Arg511His|1773/3153|1532/2754|511/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1532G>A|p.Arg511His|1773/3318|1532/2748|511/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1532G>A|p.Arg511His|1773/3222|1532/2823|511/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1700G>A|p.Arg567His|1777/3322|1700/2916|567/971|| 22 31487814 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|11/21|c.1775G>A|p.Arg592Gln|1836/3228|1775/3009|592/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|11/20|c.1613G>A|p.Arg538Gln|1854/3153|1613/2754|538/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|11/21|c.1613G>A|p.Arg538Gln|1854/3318|1613/2748|538/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|11/21|c.1613G>A|p.Arg538Gln|1854/3222|1613/2823|538/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/20|c.1781G>A|p.Arg594Gln|1858/3322|1781/2916|594/971|| 22 31491249 . T C . . ANN=C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|12/20|c.1888-40T>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|11/19|c.1633-40T>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|11/20|c.1633-40T>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|11/20|c.1633-40T>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|10/19|c.1801-40T>C|||||| 22 31491295 . G C . . ANN=C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|13/21|c.1894G>C|p.Ala632Pro|1955/3228|1894/3009|632/1002||,C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|12/20|c.1639G>C|p.Ala547Pro|1880/3153|1639/2754|547/917||,C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|12/21|c.1639G>C|p.Ala547Pro|1880/3318|1639/2748|547/915||,C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|12/21|c.1639G>C|p.Ala547Pro|1880/3222|1639/2823|547/940||,C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|11/20|c.1807G>C|p.Ala603Pro|1884/3322|1807/2916|603/971|| 22 31491332 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|13/21|c.1931C>T|p.Ala644Val|1992/3228|1931/3009|644/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|12/20|c.1676C>T|p.Ala559Val|1917/3153|1676/2754|559/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|12/21|c.1676C>T|p.Ala559Val|1917/3318|1676/2748|559/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|12/21|c.1676C>T|p.Ala559Val|1917/3222|1676/2823|559/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|11/20|c.1844C>T|p.Ala615Val|1921/3322|1844/2916|615/971|| 22 31492743 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|15/21|c.2141G>A|p.Arg714Gln|2202/3228|2141/3009|714/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|14/20|c.1886G>A|p.Arg629Gln|2127/3153|1886/2754|629/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|14/21|c.1886G>A|p.Arg629Gln|2127/3318|1886/2748|629/915||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|14/21|c.1886G>A|p.Arg629Gln|2127/3222|1886/2823|629/940||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|13/20|c.2054G>A|p.Arg685Gln|2131/3322|2054/2916|685/971|| 22 31492750 . G A . . ANN=A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|15/21|c.2148G>A|p.Leu716Leu|2209/3228|2148/3009|716/1002||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|14/20|c.1893G>A|p.Leu631Leu|2134/3153|1893/2754|631/917||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|14/21|c.1893G>A|p.Leu631Leu|2134/3318|1893/2748|631/915||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|14/21|c.1893G>A|p.Leu631Leu|2134/3222|1893/2823|631/940||,A|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|13/20|c.2061G>A|p.Leu687Leu|2138/3322|2061/2916|687/971|| 22 31492781 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|15/21|c.2179C>T|p.Arg727Cys|2240/3228|2179/3009|727/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|14/20|c.1924C>T|p.Arg642Cys|2165/3153|1924/2754|642/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|14/21|c.1924C>T|p.Arg642Cys|2165/3318|1924/2748|642/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|14/21|c.1924C>T|p.Arg642Cys|2165/3222|1924/2823|642/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|13/20|c.2092C>T|p.Arg698Cys|2169/3322|2092/2916|698/971|| 22 31492783 . C T . . ANN=T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|15/21|c.2181C>T|p.Arg727Arg|2242/3228|2181/3009|727/1002||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|14/20|c.1926C>T|p.Arg642Arg|2167/3153|1926/2754|642/917||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|14/21|c.1926C>T|p.Arg642Arg|2167/3318|1926/2748|642/915||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|14/21|c.1926C>T|p.Arg642Arg|2167/3222|1926/2823|642/940||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|13/20|c.2094C>T|p.Arg698Arg|2171/3322|2094/2916|698/971|| 22 31492816 . C G . . ANN=G|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|15/21|c.2214C>G|p.His738Gln|2275/3228|2214/3009|738/1002||,G|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|14/20|c.1959C>G|p.His653Gln|2200/3153|1959/2754|653/917||,G|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|14/21|c.1959C>G|p.His653Gln|2200/3318|1959/2748|653/915||,G|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|14/21|c.1959C>G|p.His653Gln|2200/3222|1959/2823|653/940||,G|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|13/20|c.2127C>G|p.His709Gln|2204/3322|2127/2916|709/971|| 22 31492904 . G A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|15/20|c.2281+21G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|14/19|c.2026+21G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|14/20|c.2026+21G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|14/20|c.2026+21G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|13/19|c.2194+21G>A|||||| 22 31492934 . C T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|15/20|c.2282-50C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|14/19|c.2027-50C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|14/20|c.2027-50C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|14/20|c.2027-50C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|13/19|c.2195-50C>T|||||| 22 31492951 . C A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|15/20|c.2282-33C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|14/19|c.2027-33C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|14/20|c.2027-33C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|14/20|c.2027-33C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|13/19|c.2195-33C>A|||||| 22 31493052 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|16/20|c.2344+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|15/19|c.2089+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|15/20|c.2089+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|15/20|c.2089+6G>A||||||,A|splice_region_variant&intron_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|14/19|c.2257+6G>A|||||| 22 31493064 . C T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|16/20|c.2344+18C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|15/19|c.2089+18C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|15/20|c.2089+18C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|15/20|c.2089+18C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|14/19|c.2257+18C>T|||||| 22 31494795 . A T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|18/21|c.2557A>T|p.Ile853Phe|2618/3228|2557/3009|853/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|17/20|c.2302A>T|p.Ile768Phe|2543/3153|2302/2754|768/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|17/21|c.2302A>T|p.Ile768Phe|2543/3318|2302/2748|768/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|17/21|c.2302A>T|p.Ile768Phe|2543/3222|2302/2823|768/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|16/20|c.2470A>T|p.Ile824Phe|2547/3322|2470/2916|824/971|| 22 31494813 . G C . . ANN=C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|18/21|c.2575G>C|p.Glu859Gln|2636/3228|2575/3009|859/1002||,C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|17/20|c.2320G>C|p.Glu774Gln|2561/3153|2320/2754|774/917||,C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|17/21|c.2320G>C|p.Glu774Gln|2561/3318|2320/2748|774/915||,C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|17/21|c.2320G>C|p.Glu774Gln|2561/3222|2320/2823|774/940||,C|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|16/20|c.2488G>C|p.Glu830Gln|2565/3322|2488/2916|830/971|| 22 31494866 . G T . . ANN=T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|18/20|c.2588+40G>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|17/19|c.2333+40G>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|17/20|c.2333+40G>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|17/20|c.2333+40G>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|16/19|c.2501+40G>T|||||| 22 31495154 . C T . . ANN=T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|19/21|c.2695C>T|p.Arg899Cys|2756/3228|2695/3009|899/1002||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|18/20|c.2440C>T|p.Arg814Cys|2681/3153|2440/2754|814/917||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134269.2|Coding|18/21|c.2440C>T|p.Arg814Cys|2681/3318|2440/2748|814/915||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|18/21|c.2440C>T|p.Arg814Cys|2681/3222|2440/2823|814/940||,T|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207018.1|Coding|17/20|c.2608C>T|p.Arg870Cys|2685/3322|2608/2916|870/971|| 22 31495175 . G A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|19/20|c.2706+10G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|18/19|c.2451+10G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|18/20|c.2451+10G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|18/20|c.2451+10G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|17/19|c.2619+10G>A|||||| 22 31495684 . G C . . ANN=C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|19/20|c.2707-47G>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|18/19|c.2452-47G>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|18/20|c.2452-47G>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|18/20|c.2452-47G>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|17/19|c.2620-47G>C|||||| 22 31496837 . C A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|20/20|c.2858+955C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|19/19|c.2603+955C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|19/20|c.2604-34C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|19/20|c.2604-34C>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|18/19|c.2772-34C>A|||||| 22 31497024 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|20/21|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|19/20|c.*9C>T|||||9|,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|20/20|c.2858+1142C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|19/19|c.2603+1142C>T||||||,T|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|20/20|c.2672+85C>T|||||| 22 31497025 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|20/21|c.*10G>A|||||10|,A|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|19/20|c.*10G>A|||||10|,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|20/20|c.2858+1143G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|19/19|c.2603+1143G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|20/20|c.2672+86G>A|||||| 22 31497035 . G A . . ANN=A|splice_region_variant|LOW|SMTN|SMTN|transcript|NM_134269.2|Coding|20/21|c.*20G>A||||||,A|splice_region_variant|LOW|SMTN|SMTN|transcript|NM_001207018.1|Coding|19/20|c.*20G>A||||||,A|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|20/21|c.*20G>A|||||20|,A|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|19/20|c.*20G>A|||||20|,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|20/20|c.2858+1153G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|19/19|c.2603+1153G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|20/20|c.2672+96G>A|||||| 22 31497054 . A C . . ANN=C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|20/20|c.2858+1172A>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|19/19|c.2603+1172A>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|20/20|c.*20+19A>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|20/20|c.2672+115A>C||||||,C|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|19/19|c.*20+19A>C|||||| 22 31500260 . G A . . ANN=A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207017.1|Coding|20/20|c.2859-42G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_006932.4|Coding|19/19|c.2604-42G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|20/20|c.*21-42G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_134270.2|Coding|20/20|c.2673-42G>A||||||,A|intron_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|19/19|c.*21-42G>A|||||| 22 31500411 . C T . . ANN=T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_001207017.1|Coding|21/21|c.2968C>T|p.Leu990Leu|3029/3228|2968/3009|990/1002||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_006932.4|Coding|20/20|c.2713C>T|p.Leu905Leu|2954/3153|2713/2754|905/917||,T|synonymous_variant|LOW|SMTN|SMTN|transcript|NM_134270.2|Coding|21/21|c.2782C>T|p.Leu928Leu|3023/3222|2782/2823|928/940||,T|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|21/21|c.*130C>T|||||3396|,T|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|20/20|c.*130C>T|||||3396| 22 31500415 . G A . . ANN=A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_001207017.1|Coding|21/21|c.2972G>A|p.Arg991Gln|3033/3228|2972/3009|991/1002||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_006932.4|Coding|20/20|c.2717G>A|p.Arg906Gln|2958/3153|2717/2754|906/917||,A|missense_variant|MODERATE|SMTN|SMTN|transcript|NM_134270.2|Coding|21/21|c.2786G>A|p.Arg929Gln|3027/3222|2786/2823|929/940||,A|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_134269.2|Coding|21/21|c.*134G>A|||||3400|,A|3_prime_UTR_variant|MODIFIER|SMTN|SMTN|transcript|NM_001207018.1|Coding|20/20|c.*134G>A|||||3400| 22 31500991 . G A . . ANN=A|missense_variant|MODERATE|SELM|SELM|transcript|NM_080430.2|Coding|5/5|c.403C>T|p.Pro135Ser|463/691|403/438|135/145|| 22 31501031 . G A . . ANN=A|synonymous_variant|LOW|SELM|SELM|transcript|NM_080430.2|Coding|5/5|c.363C>T|p.Asp121Asp|423/691|363/438|121/145|| 22 31501121 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SELM|SELM|transcript|NM_080430.2|Coding|4/4|c.280-7G>A|||||| 22 31501245 . A G . . ANN=G|synonymous_variant|LOW|SELM|SELM|transcript|NM_080430.2|Coding|4/5|c.228T>C|p.Pro76Pro|288/691|228/438|76/145|| 22 31501259 . T G . . ANN=G|missense_variant|MODERATE|SELM|SELM|transcript|NM_080430.2|Coding|4/5|c.214A>C|p.Met72Leu|274/691|214/438|72/145|| 22 31501285 . T G . . ANN=G|intron_variant|MODIFIER|SELM|SELM|transcript|NM_080430.2|Coding|3/4|c.201-13A>C|||||| 22 31501708 . T C . . ANN=C|intron_variant|MODIFIER|SELM|SELM|transcript|NM_080430.2|Coding|2/4|c.166-30A>G|||||| 22 31501981 . G A . . ANN=A|intron_variant|MODIFIER|SELM|SELM|transcript|NM_080430.2|Coding|1/4|c.130-30C>T|||||| 22 31520866 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|2/13|c.141C>T|p.Asn47Asn|233/3391|141/3021|47/1006||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|2/13|c.141C>T|p.Asn47Asn|233/2287|141/1917|47/638||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|3/14|c.-61C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|2/14|c.-35C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|3/15|c.-35C>T||||||,T|5_prime_UTR_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|3/14|c.-61C>T|||||61|,T|5_prime_UTR_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|2/14|c.-35C>T|||||961|,T|5_prime_UTR_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|3/15|c.-35C>T|||||961|,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|1/11|c.-116-1414C>T|||||| 22 31520893 . G T . . ANN=T|splice_donor_variant&intron_variant|HIGH|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|2/12|c.167+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|2/13|c.-9+1G>T||||||,T|splice_donor_variant&intron_variant|HIGH|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|3/14|c.-9+1G>T||||||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|2/13|c.168G>T|p.Arg56Ser|260/3391|168/3021|56/1006||,T|5_prime_UTR_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|3/14|c.-34G>T|||||34|,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|1/11|c.-116-1387G>T||||||;LOF=(INPP5J|INPP5J|6|0.50) 22 31520899 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|2/12|c.167+7T>C||||||,C|splice_region_variant&intron_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|2/13|c.-9+7T>C||||||,C|splice_region_variant&intron_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|3/14|c.-9+7T>C||||||,C|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|2/13|c.174T>C|p.Ala58Ala|266/3391|174/3021|58/1006||,C|5_prime_UTR_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|3/14|c.-28T>C|||||28|,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|1/11|c.-116-1381T>C|||||| 22 31522377 . A G . . ANN=G|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|3/13|c.1287A>G|p.Thr429Thr|1379/3391|1287/3021|429/1006||,G|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|3/13|c.183A>G|p.Thr61Thr|275/2287|183/1917|61/638||,G|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|4/14|c.1086A>G|p.Thr362Thr|1501/3513|1086/2820|362/939||,G|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|4/14|c.186A>G|p.Thr62Thr|453/2465|186/1920|62/639||,G|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|5/15|c.186A>G|p.Thr62Thr|575/2587|186/1920|62/639||,G|5_prime_UTR_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|2/12|c.-19A>G|||||19| 22 31522450 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|3/13|c.1360G>A|p.Asp454Asn|1452/3391|1360/3021|454/1006||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|3/13|c.256G>A|p.Asp86Asn|348/2287|256/1917|86/638||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|4/14|c.1159G>A|p.Asp387Asn|1574/3513|1159/2820|387/939||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|2/12|c.55G>A|p.Asp19Asn|368/2307|55/1716|19/571||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|4/14|c.259G>A|p.Asp87Asn|526/2465|259/1920|87/639||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|5/15|c.259G>A|p.Asp87Asn|648/2587|259/1920|87/639|| 22 31522455 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|3/13|c.1365C>T|p.Gly455Gly|1457/3391|1365/3021|455/1006||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|3/13|c.261C>T|p.Gly87Gly|353/2287|261/1917|87/638||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|4/14|c.1164C>T|p.Gly388Gly|1579/3513|1164/2820|388/939||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|2/12|c.60C>T|p.Gly20Gly|373/2307|60/1716|20/571||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|4/14|c.264C>T|p.Gly88Gly|531/2465|264/1920|88/639||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|5/15|c.264C>T|p.Gly88Gly|653/2587|264/1920|88/639|| 22 31522491 . A C . . ANN=C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|3/12|c.1385+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|3/12|c.281+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|4/13|c.1184+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|2/11|c.80+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|4/13|c.284+16A>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|5/14|c.284+16A>C|||||| 22 31522624 . A G . . ANN=G|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|4/13|c.1411A>G|p.Asn471Asp|1503/3391|1411/3021|471/1006||,G|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|4/13|c.307A>G|p.Asn103Asp|399/2287|307/1917|103/638||,G|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|5/14|c.1210A>G|p.Asn404Asp|1625/3513|1210/2820|404/939||,G|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|3/12|c.106A>G|p.Asn36Asp|419/2307|106/1716|36/571||,G|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|5/14|c.310A>G|p.Asn104Asp|577/2465|310/1920|104/639||,G|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|6/15|c.310A>G|p.Asn104Asp|699/2587|310/1920|104/639|| 22 31522949 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|5/13|c.1537G>A|p.Ala513Thr|1629/3391|1537/3021|513/1006||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|5/13|c.433G>A|p.Ala145Thr|525/2287|433/1917|145/638||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|6/14|c.1336G>A|p.Ala446Thr|1751/3513|1336/2820|446/939||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|4/12|c.232G>A|p.Ala78Thr|545/2307|232/1716|78/571||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|6/14|c.436G>A|p.Ala146Thr|703/2465|436/1920|146/639||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|7/15|c.436G>A|p.Ala146Thr|825/2587|436/1920|146/639|| 22 31522981 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|5/13|c.1569C>T|p.Asp523Asp|1661/3391|1569/3021|523/1006||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|5/13|c.465C>T|p.Asp155Asp|557/2287|465/1917|155/638||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|6/14|c.1368C>T|p.Asp456Asp|1783/3513|1368/2820|456/939||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|4/12|c.264C>T|p.Asp88Asp|577/2307|264/1716|88/571||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|6/14|c.468C>T|p.Asp156Asp|735/2465|468/1920|156/639||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|7/15|c.468C>T|p.Asp156Asp|857/2587|468/1920|156/639|| 22 31522999 . G A . . ANN=A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|5/13|c.1587G>A|p.Thr529Thr|1679/3391|1587/3021|529/1006||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|5/13|c.483G>A|p.Thr161Thr|575/2287|483/1917|161/638||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|6/14|c.1386G>A|p.Thr462Thr|1801/3513|1386/2820|462/939||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|4/12|c.282G>A|p.Thr94Thr|595/2307|282/1716|94/571||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|6/14|c.486G>A|p.Thr162Thr|753/2465|486/1920|162/639||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|7/15|c.486G>A|p.Thr162Thr|875/2587|486/1920|162/639|| 22 31523492 . G A . . ANN=A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|6/13|c.1761G>A|p.Pro587Pro|1853/3391|1761/3021|587/1006||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|6/13|c.657G>A|p.Pro219Pro|749/2287|657/1917|219/638||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|7/14|c.1560G>A|p.Pro520Pro|1975/3513|1560/2820|520/939||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|5/12|c.456G>A|p.Pro152Pro|769/2307|456/1716|152/571||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|7/14|c.660G>A|p.Pro220Pro|927/2465|660/1920|220/639||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|8/15|c.660G>A|p.Pro220Pro|1049/2587|660/1920|220/639|| 22 31523495 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|6/13|c.1764C>T|p.Gly588Gly|1856/3391|1764/3021|588/1006||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|6/13|c.660C>T|p.Gly220Gly|752/2287|660/1917|220/638||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|7/14|c.1563C>T|p.Gly521Gly|1978/3513|1563/2820|521/939||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|5/12|c.459C>T|p.Gly153Gly|772/2307|459/1716|153/571||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|7/14|c.663C>T|p.Gly221Gly|930/2465|663/1920|221/639||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|8/15|c.663C>T|p.Gly221Gly|1052/2587|663/1920|221/639|| 22 31523541 . A T . . ANN=T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|6/12|c.1787+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|6/12|c.683+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|7/13|c.1586+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|5/11|c.482+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|7/13|c.686+23A>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|8/14|c.686+23A>T|||||| 22 31523892 . C A . . ANN=A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|6/12|c.1788-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|6/12|c.684-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|7/13|c.1587-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|5/11|c.483-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|7/13|c.687-45C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|8/14|c.687-45C>A|||||| 22 31523973 . T C . . ANN=C|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|7/13|c.1824T>C|p.Ile608Ile|1916/3391|1824/3021|608/1006||,C|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|7/13|c.720T>C|p.Ile240Ile|812/2287|720/1917|240/638||,C|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|8/14|c.1623T>C|p.Ile541Ile|2038/3513|1623/2820|541/939||,C|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|6/12|c.519T>C|p.Ile173Ile|832/2307|519/1716|173/571||,C|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|8/14|c.723T>C|p.Ile241Ile|990/2465|723/1920|241/639||,C|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|9/15|c.723T>C|p.Ile241Ile|1112/2587|723/1920|241/639|| 22 31524086 . C T . . ANN=T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|7/12|c.1899+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|7/12|c.795+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|8/13|c.1698+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|6/11|c.594+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|8/13|c.798+38C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|9/14|c.798+38C>T|||||| 22 31524151 . C T . . ANN=T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|7/12|c.1900-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|7/12|c.796-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|8/13|c.1699-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|6/11|c.595-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|8/13|c.799-49C>T||||||,T|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|9/14|c.799-49C>T|||||| 22 31524175 . A G . . ANN=G|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|7/12|c.1900-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|7/12|c.796-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|8/13|c.1699-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|6/11|c.595-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|8/13|c.799-25A>G||||||,G|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|9/14|c.799-25A>G|||||| 22 31524249 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|8/13|c.1949G>A|p.Gly650Glu|2041/3391|1949/3021|650/1006||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|8/13|c.845G>A|p.Gly282Glu|937/2287|845/1917|282/638||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|9/14|c.1748G>A|p.Gly583Glu|2163/3513|1748/2820|583/939||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|7/12|c.644G>A|p.Gly215Glu|957/2307|644/1716|215/571||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|9/14|c.848G>A|p.Gly283Glu|1115/2465|848/1920|283/639||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|10/15|c.848G>A|p.Gly283Glu|1237/2587|848/1920|283/639|| 22 31529043 . C A . . ANN=A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|9/12|c.2194-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|9/12|c.1090-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|10/13|c.1993-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|8/11|c.889-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|10/13|c.1093-41C>A||||||,A|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|11/14|c.1093-41C>A|||||| 22 31529142 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|10/13|c.2252G>A|p.Arg751Gln|2344/3391|2252/3021|751/1006||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|10/13|c.1148G>A|p.Arg383Gln|1240/2287|1148/1917|383/638||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|11/14|c.2051G>A|p.Arg684Gln|2466/3513|2051/2820|684/939||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|9/12|c.947G>A|p.Arg316Gln|1260/2307|947/1716|316/571||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|11/14|c.1151G>A|p.Arg384Gln|1418/2465|1151/1920|384/639||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|12/15|c.1151G>A|p.Arg384Gln|1540/2587|1151/1920|384/639|| 22 31529185 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|10/13|c.2295C>T|p.Phe765Phe|2387/3391|2295/3021|765/1006||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|10/13|c.1191C>T|p.Phe397Phe|1283/2287|1191/1917|397/638||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|11/14|c.2094C>T|p.Phe698Phe|2509/3513|2094/2820|698/939||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|9/12|c.990C>T|p.Phe330Phe|1303/2307|990/1716|330/571||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|11/14|c.1194C>T|p.Phe398Phe|1461/2465|1194/1920|398/639||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|12/15|c.1194C>T|p.Phe398Phe|1583/2587|1194/1920|398/639|| 22 31529353 . T C . . ANN=C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|10/12|c.2332-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|10/12|c.1228-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|11/13|c.2131-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|9/11|c.1027-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|11/13|c.1231-39T>C||||||,C|intron_variant|MODIFIER|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|12/14|c.1231-39T>C|||||| 22 31529463 . C A . . ANN=A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|11/13|c.2403C>A|p.Thr801Thr|2495/3391|2403/3021|801/1006||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|11/13|c.1299C>A|p.Thr433Thr|1391/2287|1299/1917|433/638||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|12/14|c.2202C>A|p.Thr734Thr|2617/3513|2202/2820|734/939||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|10/12|c.1098C>A|p.Thr366Thr|1411/2307|1098/1716|366/571||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|12/14|c.1302C>A|p.Thr434Thr|1569/2465|1302/1920|434/639||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|13/15|c.1302C>A|p.Thr434Thr|1691/2587|1302/1920|434/639|| 22 31529679 . C T . . ANN=T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|12/13|c.2493C>T|p.Ile831Ile|2585/3391|2493/3021|831/1006||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|12/13|c.1389C>T|p.Ile463Ile|1481/2287|1389/1917|463/638||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|13/14|c.2292C>T|p.Ile764Ile|2707/3513|2292/2820|764/939||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|11/12|c.1188C>T|p.Ile396Ile|1501/2307|1188/1716|396/571||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|13/14|c.1392C>T|p.Ile464Ile|1659/2465|1392/1920|464/639||,T|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|14/15|c.1392C>T|p.Ile464Ile|1781/2587|1392/1920|464/639|| 22 31529903 . C T . . ANN=T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|13/13|c.2519C>T|p.Ser840Leu|2611/3391|2519/3021|840/1006||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|13/13|c.1415C>T|p.Ser472Leu|1507/2287|1415/1917|472/638||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|14/14|c.2318C>T|p.Ser773Leu|2733/3513|2318/2820|773/939||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|12/12|c.1214C>T|p.Ser405Leu|1527/2307|1214/1716|405/571||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|14/14|c.1418C>T|p.Ser473Leu|1685/2465|1418/1920|473/639||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|15/15|c.1418C>T|p.Ser473Leu|1807/2587|1418/1920|473/639|| 22 31529904 . G A . . ANN=A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|13/13|c.2520G>A|p.Ser840Ser|2612/3391|2520/3021|840/1006||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|13/13|c.1416G>A|p.Ser472Ser|1508/2287|1416/1917|472/638||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|14/14|c.2319G>A|p.Ser773Ser|2734/3513|2319/2820|773/939||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|12/12|c.1215G>A|p.Ser405Ser|1528/2307|1215/1716|405/571||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|14/14|c.1419G>A|p.Ser473Ser|1686/2465|1419/1920|473/639||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|15/15|c.1419G>A|p.Ser473Ser|1808/2587|1419/1920|473/639|| 22 31529916 . G A . . ANN=A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|13/13|c.2532G>A|p.Ser844Ser|2624/3391|2532/3021|844/1006||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|13/13|c.1428G>A|p.Ser476Ser|1520/2287|1428/1917|476/638||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|14/14|c.2331G>A|p.Ser777Ser|2746/3513|2331/2820|777/939||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|12/12|c.1227G>A|p.Ser409Ser|1540/2307|1227/1716|409/571||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|14/14|c.1431G>A|p.Ser477Ser|1698/2465|1431/1920|477/639||,A|synonymous_variant|LOW|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|15/15|c.1431G>A|p.Ser477Ser|1820/2587|1431/1920|477/639|| 22 31530073 . C T . . ANN=T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|13/13|c.2689C>T|p.Leu897Phe|2781/3391|2689/3021|897/1006||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|13/13|c.1585C>T|p.Leu529Phe|1677/2287|1585/1917|529/638||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|14/14|c.2488C>T|p.Leu830Phe|2903/3513|2488/2820|830/939||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|12/12|c.1384C>T|p.Leu462Phe|1697/2307|1384/1716|462/571||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|14/14|c.1588C>T|p.Leu530Phe|1855/2465|1588/1920|530/639||,T|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|15/15|c.1588C>T|p.Leu530Phe|1977/2587|1588/1920|530/639|| 22 31530271 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|13/13|c.2887G>A|p.Ala963Thr|2979/3391|2887/3021|963/1006||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|13/13|c.1783G>A|p.Ala595Thr|1875/2287|1783/1917|595/638||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|14/14|c.2686G>A|p.Ala896Thr|3101/3513|2686/2820|896/939||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|12/12|c.1582G>A|p.Ala528Thr|1895/2307|1582/1716|528/571||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|14/14|c.1786G>A|p.Ala596Thr|2053/2465|1786/1920|596/639||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|15/15|c.1786G>A|p.Ala596Thr|2175/2587|1786/1920|596/639|| 22 31530308 . G A . . ANN=A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|13/13|c.2924G>A|p.Gly975Asp|3016/3391|2924/3021|975/1006||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|13/13|c.1820G>A|p.Gly607Asp|1912/2287|1820/1917|607/638||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|14/14|c.2723G>A|p.Gly908Asp|3138/3513|2723/2820|908/939||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|12/12|c.1619G>A|p.Gly540Asp|1932/2307|1619/1716|540/571||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|14/14|c.1823G>A|p.Gly608Asp|2090/2465|1823/1920|608/639||,A|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|15/15|c.1823G>A|p.Gly608Asp|2212/2587|1823/1920|608/639|| 22 31530344 . A C . . ANN=C|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284285.1|Coding|13/13|c.2960A>C|p.Asn987Thr|3052/3391|2960/3021|987/1006||,C|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001002837.2|Coding|13/13|c.1856A>C|p.Asn619Thr|1948/2287|1856/1917|619/638||,C|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284286.1|Coding|14/14|c.2759A>C|p.Asn920Thr|3174/3513|2759/2820|920/939||,C|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284287.1|Coding|12/12|c.1655A>C|p.Asn552Thr|1968/2307|1655/1716|552/571||,C|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284288.1|Coding|14/14|c.1859A>C|p.Asn620Thr|2126/2465|1859/1920|620/639||,C|missense_variant|MODERATE|INPP5J|INPP5J|transcript|NM_001284289.1|Coding|15/15|c.1859A>C|p.Asn620Thr|2248/2587|1859/1920|620/639|| 22 31531662 . GCCATGGGCAAGGT G . . ANN=G|3_prime_UTR_variant|MODIFIER|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|7/7|c.*34_*46delACCTTGCCCATGG|||||34| 22 31531788 . A C . . ANN=C|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|7/7|c.1451T>G|p.Met484Arg|1704/2699|1451/1530|484/509|| 22 31531849 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|7/7|c.1390C>T|p.Leu464Phe|1643/2699|1390/1530|464/509|| 22 31531875 . C T . . ANN=T|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|7/7|c.1364G>A|p.Arg455Gln|1617/2699|1364/1530|455/509|| 22 31532644 . C G . . ANN=G|intron_variant|MODIFIER|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|6/6|c.1316+25G>C|||||| 22 31532649 . C T . . ANN=T|intron_variant|MODIFIER|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|6/6|c.1316+20G>A|||||| 22 31532697 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|6/7|c.1288C>T|p.Pro430Ser|1541/2699|1288/1530|430/509|| 22 31532702 . A G . . ANN=G|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|6/7|c.1283T>C|p.Leu428Pro|1536/2699|1283/1530|428/509|| 22 31532870 . C T . . ANN=T|intron_variant|MODIFIER|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|5/6|c.1199+24G>A|||||| 22 31532873 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|5/6|c.1199+21C>T|||||| 22 31532894 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|5/7|c.1199G>A|p.Arg400His|1452/2699|1199/1530|400/509|| 22 31532899 . C T . . ANN=T|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|5/7|c.1194G>A|p.Thr398Thr|1447/2699|1194/1530|398/509|| 22 31532960 . C T . . ANN=T|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|5/7|c.1133G>A|p.Arg378Gln|1386/2699|1133/1530|378/509|| 22 31533709 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.1053C>T|p.Gly351Gly|1306/2699|1053/1530|351/509|| 22 31533751 . C G . . ANN=G|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.1011G>C|p.Arg337Ser|1264/2699|1011/1530|337/509|| 22 31533796 . G C . . ANN=C|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.966C>G|p.Ser322Arg|1219/2699|966/1530|322/509|| 22 31533843 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.919C>T|p.His307Tyr|1172/2699|919/1530|307/509|| 22 31533855 . G A . . ANN=A|stop_gained|HIGH|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.907C>T|p.Arg303*|1160/2699|907/1530|303/509||;LOF=(PLA2G3|PLA2G3|1|1.00);NMD=(PLA2G3|PLA2G3|1|1.00) 22 31533869 . G C . . ANN=C|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.893C>G|p.Ala298Gly|1146/2699|893/1530|298/509|| 22 31533906 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.856C>T|p.Arg286Trp|1109/2699|856/1530|286/509|| 22 31533952 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.810C>T|p.Leu270Leu|1063/2699|810/1530|270/509|| 22 31533967 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|4/7|c.795C>T|p.Tyr265Tyr|1048/2699|795/1530|265/509|| 22 31534258 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|3/6|c.782+4C>T|||||| 22 31534280 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|3/7|c.764C>T|p.Ala255Val|1017/2699|764/1530|255/509|| 22 31534357 . C T . . ANN=T|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|3/7|c.687G>A|p.Ser229Ser|940/2699|687/1530|229/509|| 22 31534658 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|2/7|c.642C>T|p.Asp214Asp|895/2699|642/1530|214/509|| 22 31535777 . C G . . ANN=G|intron_variant|MODIFIER|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/6|c.514+50G>C|||||| 22 31535808 . C T . . ANN=T|intron_variant|MODIFIER|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/6|c.514+19G>A|||||| 22 31535872 . G C . . ANN=C|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.469C>G|p.Leu157Val|722/2699|469/1530|157/509|| 22 31535947 . G A . . ANN=A|stop_gained|HIGH|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.394C>T|p.Arg132*|647/2699|394/1530|132/509||;LOF=(PLA2G3|PLA2G3|1|1.00);NMD=(PLA2G3|PLA2G3|1|1.00) 22 31535981 . C T . . ANN=T|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.360G>A|p.Ala120Ala|613/2699|360/1530|120/509|| 22 31535995 . C G . . ANN=G|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.346G>C|p.Glu116Gln|599/2699|346/1530|116/509|| 22 31536005 . C G . . ANN=G|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.336G>C|p.Gln112His|589/2699|336/1530|112/509|| 22 31536074 . A T . . ANN=T|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.267T>A|p.His89Gln|520/2699|267/1530|89/509|| 22 31536092 . G A . . ANN=A|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.249C>T|p.Tyr83Tyr|502/2699|249/1530|83/509|| 22 31536133 . A C . . ANN=C|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.208T>G|p.Ser70Ala|461/2699|208/1530|70/509|| 22 31536134 . C CT . . ANN=CT|frameshift_variant|HIGH|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.206dupA|p.Ser70fs|459/2699|206/1530|69/509||;LOF=(PLA2G3|PLA2G3|1|1.00) 22 31536159 . C T . . ANN=T|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.182G>A|p.Arg61His|435/2699|182/1530|61/509|| 22 31536160 . G A . . ANN=A|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.181C>T|p.Arg61Cys|434/2699|181/1530|61/509|| 22 31536194 . G T . . ANN=T|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.147C>A|p.Ala49Ala|400/2699|147/1530|49/509|| 22 31536232 . C T . . ANN=T|missense_variant|MODERATE|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.109G>A|p.Val37Ile|362/2699|109/1530|37/509|| 22 31536233 . G C . . ANN=C|synonymous_variant|LOW|PLA2G3|PLA2G3|transcript|NM_015715.4|Coding|1/7|c.108C>G|p.Ala36Ala|361/2699|108/1530|36/509|| 22 31583078 . A C . . ANN=C|5_prime_UTR_variant|MODIFIER|RNF185|RNF185|transcript|NM_152267.3|Coding|2/7|c.-3A>C|||||3|,C|5_prime_UTR_variant|MODIFIER|RNF185|RNF185|transcript|NM_001135825.1|Coding|2/5|c.-3A>C|||||3|,C|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|1/5|n.153-5592A>C||||||,C|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|3/7|n.296A>C||||||,C|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|2/7|n.198A>C||||||,C|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|2/6|n.198A>C|||||| 22 31583112 . C T . . ANN=T|missense_variant|MODERATE|RNF185|RNF185|transcript|NM_152267.3|Coding|2/7|c.32C>T|p.Ser11Phe|232/3212|32/579|11/192||,T|missense_variant|MODERATE|RNF185|RNF185|transcript|NM_001135825.1|Coding|2/5|c.32C>T|p.Ser11Phe|232/3044|32/411|11/136||,T|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|1/5|n.153-5558C>T||||||,T|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|3/7|n.330C>T||||||,T|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|2/7|n.232C>T||||||,T|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|2/6|n.232C>T|||||| 22 31583129 . G A . . ANN=A|missense_variant|MODERATE|RNF185|RNF185|transcript|NM_152267.3|Coding|2/7|c.49G>A|p.Ala17Thr|249/3212|49/579|17/192||,A|missense_variant|MODERATE|RNF185|RNF185|transcript|NM_001135825.1|Coding|2/5|c.49G>A|p.Ala17Thr|249/3044|49/411|17/136||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|1/5|n.153-5541G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|3/7|n.347G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|2/7|n.249G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|2/6|n.249G>A|||||| 22 31583169 . G A . . ANN=A|missense_variant|MODERATE|RNF185|RNF185|transcript|NM_152267.3|Coding|2/7|c.89G>A|p.Ser30Asn|289/3212|89/579|30/192||,A|missense_variant|MODERATE|RNF185|RNF185|transcript|NM_001135825.1|Coding|2/5|c.89G>A|p.Ser30Asn|289/3044|89/411|30/136||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|1/5|n.153-5501G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|3/7|n.387G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|2/7|n.289G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|2/6|n.289G>A|||||| 22 31583300 . T G . . ANN=G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_152267.3|Coding|2/6|c.176+44T>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_001135825.1|Coding|2/4|c.176+44T>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|3/6|n.474+44T>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|2/6|n.376+44T>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|2/5|n.376+44T>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|1/5|n.153-5370T>G|||||| 22 31583301 . G A . . ANN=A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_152267.3|Coding|2/6|c.176+45G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_001135825.1|Coding|2/4|c.176+45G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|3/6|n.474+45G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|2/6|n.376+45G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|2/5|n.376+45G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|1/5|n.153-5369G>A|||||| 22 31588676 . G A . . ANN=A|synonymous_variant|LOW|RNF185|RNF185|transcript|NM_152267.3|Coding|3/7|c.183G>A|p.Pro61Pro|383/3212|183/579|61/192||,A|synonymous_variant|LOW|RNF185|RNF185|transcript|NM_001135825.1|Coding|3/5|c.183G>A|p.Pro61Pro|383/3044|183/411|61/136||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|4/7|n.481G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|3/7|n.383G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|3/6|n.383G>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|2/6|n.159G>A|||||| 22 31588735 . A G . . ANN=G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_152267.3|Coding|3/6|c.195+47A>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_001135825.1|Coding|3/4|c.195+47A>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|4/6|n.493+47A>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|3/6|n.395+47A>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|3/5|n.395+47A>G||||||,G|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|2/5|n.171+47A>G|||||| 22 31591512 . C A . . ANN=A|synonymous_variant|LOW|RNF185|RNF185|transcript|NM_152267.3|Coding|4/7|c.253C>A|p.Arg85Arg|453/3212|253/579|85/192||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_001135825.1|Coding|3/4|c.195+2824C>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|4/6|n.494-1410C>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|3/5|n.396-1410C>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|4/7|n.453C>A||||||,A|non_coding_exon_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|3/6|n.229C>A|||||| 22 31591595 . C T . . ANN=T|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_152267.3|Coding|4/6|c.308+28C>T||||||,T|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_001135825.1|Coding|3/4|c.195+2907C>T||||||,T|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|4/6|n.494-1327C>T||||||,T|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|4/6|n.508+28C>T||||||,T|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|3/5|n.396-1327C>T||||||,T|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|3/5|n.284+28C>T|||||| 22 31597434 . G A . . ANN=A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_152267.3|Coding|5/6|c.364-50G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_001135825.1|Coding|3/4|c.196-50G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|5/6|n.549-50G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|5/6|n.731-50G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|4/5|n.451-50G>A||||||,A|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|4/5|n.340-50G>A|||||| 22 31600460 . T C . . ANN=C|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_152267.3|Coding|6/6|c.482-15T>C||||||,C|intron_variant|MODIFIER|RNF185|RNF185|transcript|NM_001135825.1|Coding|4/4|c.314-15T>C||||||,C|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024209.1|Noncoding|6/6|n.667-15T>C||||||,C|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024210.1|Noncoding|6/6|n.849-15T>C||||||,C|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024211.1|Noncoding|5/5|n.569-15T>C||||||,C|intron_variant|MODIFIER|RNF185|RNF185|transcript|NR_024212.1|Noncoding|5/5|n.458-15T>C|||||| 22 31608375 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|1/16|c.-20A>G|||||20| 22 31608400 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|1/16|c.6C>T|p.Ser2Ser|151/3701|6/1917|2/638|| 22 31608421 . G C . . ANN=C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|1/15|c.16+11G>C|||||| 22 31621683 . C G . . ANN=G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|1/15|c.17-23C>G|||||| 22 31621779 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|2/16|c.90C>T|p.Asn30Asn|235/3701|90/1917|30/638|| 22 31621792 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_005569.3|Coding|2/16|c.103G>A|p.Gly35Ser|248/3701|103/1917|35/638|| 22 31621835 . A G . . ANN=G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|2/15|c.116+30A>G|||||| 22 31644691 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|1/15|c.-12T>C|||||12|,C|5_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|1/15|c.-12T>C|||||12|,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|2/15|c.117-9586T>C|||||| 22 31644710 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|1/15|c.8G>A|p.Ser3Asn|363/2914|8/2061|3/686||,A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|1/15|c.8G>A|p.Ser3Asn|363/3848|8/1854|3/617||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|2/15|c.117-9567G>A|||||| 22 31644730 . T G . . ANN=G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|1/15|c.28T>G|p.Tyr10Asp|383/2914|28/2061|10/686||,G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|1/15|c.28T>G|p.Tyr10Asp|383/3848|28/1854|10/617||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|2/15|c.117-9547T>G|||||| 22 31644731 . A G . . ANN=G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|1/15|c.29A>G|p.Tyr10Cys|384/2914|29/2061|10/686||,G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|1/15|c.29A>G|p.Tyr10Cys|384/3848|29/1854|10/617||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|2/15|c.117-9546A>G|||||| 22 31654293 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|2/15|c.70G>A|p.Asp24Asn|425/2914|70/2061|24/686||,A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_005569.3|Coding|3/16|c.133G>A|p.Asp45Asn|278/3701|133/1917|45/638||,A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|2/15|c.70G>A|p.Asp24Asn|425/3848|70/1854|24/617|| 22 31655145 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|3/15|c.228C>T|p.Ala76Ala|583/2914|228/2061|76/686||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|4/16|c.291C>T|p.Ala97Ala|436/3701|291/1917|97/638||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|3/15|c.228C>T|p.Ala76Ala|583/3848|228/1854|76/617|| 22 31655196 . G A . . ANN=A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|3/15|c.279G>A|p.Val93Val|634/2914|279/2061|93/686||,A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|4/16|c.342G>A|p.Val114Val|487/3701|342/1917|114/638||,A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|3/15|c.279G>A|p.Val93Val|634/3848|279/1854|93/617|| 22 31655208 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|3/15|c.291C>T|p.Thr97Thr|646/2914|291/2061|97/686||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|4/16|c.354C>T|p.Thr118Thr|499/3701|354/1917|118/638||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|3/15|c.291C>T|p.Thr97Thr|646/3848|291/1854|97/617|| 22 31655844 . C CA . . ANN=CA|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|3/14|c.300-31_300-30insA||||||,CA|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|4/15|c.363-31_363-30insA||||||,CA|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|3/14|c.300-31_300-30insA|||||| 22 31656011 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|4/15|c.436G>A|p.Val146Met|791/2914|436/2061|146/686||,A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_005569.3|Coding|5/16|c.499G>A|p.Val167Met|644/3701|499/1917|167/638||,A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|4/15|c.436G>A|p.Val146Met|791/3848|436/1854|146/617|| 22 31658156 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|5/15|c.525C>T|p.Asn175Asn|880/2914|525/2061|175/686||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|6/16|c.588C>T|p.Asn196Asn|733/3701|588/1917|196/638||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|5/15|c.525C>T|p.Asn175Asn|880/3848|525/1854|175/617|| 22 31658175 . C G . . ANN=G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|5/15|c.544C>G|p.Arg182Gly|899/2914|544/2061|182/686||,G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_005569.3|Coding|6/16|c.607C>G|p.Arg203Gly|752/3701|607/1917|203/638||,G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|5/15|c.544C>G|p.Arg182Gly|899/3848|544/1854|182/617|| 22 31658205 . C T . . ANN=T|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|5/15|c.574C>T|p.Arg192Cys|929/2914|574/2061|192/686||,T|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_005569.3|Coding|6/16|c.637C>T|p.Arg213Cys|782/3701|637/1917|213/638||,T|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|5/15|c.574C>T|p.Arg192Cys|929/3848|574/1854|192/617|| 22 31658215 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|5/15|c.584G>A|p.Arg195Gln|939/2914|584/2061|195/686||,A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_005569.3|Coding|6/16|c.647G>A|p.Arg216Gln|792/3701|647/1917|216/638||,A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|5/15|c.584G>A|p.Arg195Gln|939/3848|584/1854|195/617|| 22 31658757 . A C . . ANN=C|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|6/15|c.771A>C|p.Thr257Thr|1126/2914|771/2061|257/686||,C|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|7/16|c.834A>C|p.Thr278Thr|979/3701|834/1917|278/638||,C|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|6/15|c.771A>C|p.Thr257Thr|1126/3848|771/1854|257/617|| 22 31662010 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|7/15|c.870C>T|p.Arg290Arg|1225/2914|870/2061|290/686||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|8/16|c.933C>T|p.Arg311Arg|1078/3701|933/1917|311/638||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|7/15|c.870C>T|p.Arg290Arg|1225/3848|870/1854|290/617|| 22 31663018 . C A . . ANN=A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|8/15|c.1027C>A|p.Arg343Arg|1382/2914|1027/2061|343/686||,A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|9/16|c.1090C>A|p.Arg364Arg|1235/3701|1090/1917|364/638||,A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|8/15|c.1027C>A|p.Arg343Arg|1382/3848|1027/1854|343/617|| 22 31663066 . T C . . ANN=C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|8/14|c.1065+10T>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|9/15|c.1128+10T>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|8/14|c.1065+10T>C|||||| 22 31663842 . C G . . ANN=G|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|9/15|c.1146C>G|p.Leu382Leu|1501/2914|1146/2061|382/686||,G|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|10/16|c.1209C>G|p.Leu403Leu|1354/3701|1209/1917|403/638||,G|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|9/15|c.1146C>G|p.Leu382Leu|1501/3848|1146/1854|382/617|| 22 31663875 . G A . . ANN=A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|9/15|c.1179G>A|p.Lys393Lys|1534/2914|1179/2061|393/686||,A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|10/16|c.1242G>A|p.Lys414Lys|1387/3701|1242/1917|414/638||,A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|9/15|c.1179G>A|p.Lys393Lys|1534/3848|1179/1854|393/617|| 22 31663885 . C T . . ANN=T|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|9/15|c.1189C>T|p.Arg397Cys|1544/2914|1189/2061|397/686||,T|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_005569.3|Coding|10/16|c.1252C>T|p.Arg418Cys|1397/3701|1252/1917|418/638||,T|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|9/15|c.1189C>T|p.Arg397Cys|1544/3848|1189/1854|397/617|| 22 31663927 . T C . . ANN=C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|9/14|c.1197+34T>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|10/15|c.1260+34T>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|9/14|c.1197+34T>C|||||| 22 31664080 . C T . . ANN=T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|9/14|c.1198-50C>T||||||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|10/15|c.1261-50C>T||||||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|9/14|c.1198-50C>T|||||| 22 31664090 . A T . . ANN=T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|9/14|c.1198-40A>T||||||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|10/15|c.1261-40A>T||||||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|9/14|c.1198-40A>T|||||| 22 31664108 . A C . . ANN=C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|9/14|c.1198-22A>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|10/15|c.1261-22A>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|9/14|c.1198-22A>C|||||| 22 31664174 . C T . . ANN=T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|10/15|c.1242C>T|p.Ile414Ile|1597/2914|1242/2061|414/686||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|11/16|c.1305C>T|p.Ile435Ile|1450/3701|1305/1917|435/638||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|10/15|c.1242C>T|p.Ile414Ile|1597/3848|1242/1854|414/617|| 22 31664213 . C A . . ANN=A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|10/14|c.1254+27C>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|11/15|c.1317+27C>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|10/14|c.1254+27C>A|||||| 22 31664233 . G A . . ANN=A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|10/14|c.1254+47G>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|11/15|c.1317+47G>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|10/14|c.1254+47G>A|||||| 22 31664234 . T C . . ANN=C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|10/14|c.1254+48T>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|11/15|c.1317+48T>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|10/14|c.1254+48T>C|||||| 22 31667166 . G A . . ANN=A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|11/15|c.1299G>A|p.Ser433Ser|1654/2914|1299/2061|433/686||,A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|12/16|c.1362G>A|p.Ser454Ser|1507/3701|1362/1917|454/638||,A|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|11/15|c.1299G>A|p.Ser433Ser|1654/3848|1299/1854|433/617|| 22 31668720 . C T . . ANN=T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|12/14|c.1495+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|13/15|c.1558+30C>T||||||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|12/14|c.1495+30C>T|||||| 22 31668721 . G A . . ANN=A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|12/14|c.1495+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|13/15|c.1558+31G>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|12/14|c.1495+31G>A|||||| 22 31671123 . T G . . ANN=G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|13/14|c.1552-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|14/15|c.1615-14T>G||||||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|13/14|c.1552-14T>G|||||| 22 31671190 . T C . . ANN=C|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|14/15|c.1605T>C|p.Phe535Phe|1960/2914|1605/2061|535/686||,C|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/16|c.1668T>C|p.Phe556Phe|1813/3701|1668/1917|556/638||,C|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/15|c.1605T>C|p.Phe535Phe|1960/3848|1605/1854|535/617|| 22 31671256 . G T . . ANN=T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|14/15|c.1671G>T|p.Pro557Pro|2026/2914|1671/2061|557/686||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/16|c.1734G>T|p.Pro578Pro|1879/3701|1734/1917|578/638||,T|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/15|c.1671G>T|p.Pro557Pro|2026/3848|1671/1854|557/617|| 22 31672752 . A C . . ANN=C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|14/14|c.1710-23A>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1772+1458A>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1709+1458A>C|||||| 22 31672754 . G A . . ANN=A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|14/14|c.1710-21G>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1772+1460G>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1709+1460G>A|||||| 22 31672761 . G C . . ANN=C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|14/14|c.1710-14G>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1772+1467G>C||||||,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1709+1467G>C|||||| 22 31672776 . G GC . . ANN=C|frameshift_variant|HIGH|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.1719dupC|p.Gly574fs|2075/2914|1720/2061|574/686||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1772+1490dupC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1709+1490dupC||||||INFO_REALIGN_3_PRIME;LOF=(LIMK2|LIMK2|3|0.33) 22 31672782 . C T . . ANN=T|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.1717C>T|p.Pro573Ser|2072/2914|1717/2061|573/686||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1772+1488C>T||||||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1709+1488C>T|||||| 22 31672837 . G A . . ANN=A|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.1772G>A|p.Arg591His|2127/2914|1772/2061|591/686||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1773-1446G>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1710-1446G>A|||||| 22 31672933 . A G . . ANN=G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.1868A>G|p.Asp623Gly|2223/2914|1868/2061|623/686||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1773-1350A>G||||||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1710-1350A>G|||||| 22 31673092 . C T . . ANN=T|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.2027C>T|p.Ala676Val|2382/2914|2027/2061|676/686||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1773-1191C>T||||||,T|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1710-1191C>T|||||| 22 31673111 . A G . . ANN=G|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.2046A>G|p.Thr682Thr|2401/2914|2046/2061|682/686||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1773-1172A>G||||||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1710-1172A>G|||||| 22 31673116 . A G . . ANN=G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.2051A>G|p.Gln684Arg|2406/2914|2051/2061|684/686||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1773-1167A>G||||||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1710-1167A>G|||||| 22 31673119 . A G . . ANN=G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.2054A>G|p.Lys685Arg|2409/2914|2054/2061|685/686||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1773-1164A>G||||||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1710-1164A>G|||||| 22 31673172 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.*46A>G|||||46|,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1773-1111A>G||||||,G|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1710-1111A>G|||||| 22 31673173 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_001031801.1|Coding|15/15|c.*47C>A|||||47|,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|15/15|c.1773-1110C>A||||||,A|intron_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|14/14|c.1710-1110C>A|||||| 22 31674299 . T C . . ANN=C|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_005569.3|Coding|16/16|c.1789T>C|p.Leu597Leu|1934/3701|1789/1917|597/638||,C|synonymous_variant|LOW|LIMK2|LIMK2|transcript|NM_016733.2|Coding|15/15|c.1726T>C|p.Leu576Leu|2081/3848|1726/1854|576/617|| 22 31674324 . C G . . ANN=G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_005569.3|Coding|16/16|c.1814C>G|p.Ser605Cys|1959/3701|1814/1917|605/638||,G|missense_variant|MODERATE|LIMK2|LIMK2|transcript|NM_016733.2|Coding|15/15|c.1751C>G|p.Ser584Cys|2106/3848|1751/1854|584/617|| 22 31674447 . AG A . . ANN=|3_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|16/16|c.*26delG|||||26|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|15/15|c.*26delG|||||26|INFO_REALIGN_3_PRIME 22 31674453 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_005569.3|Coding|16/16|c.*26G>T|||||26|,T|3_prime_UTR_variant|MODIFIER|LIMK2|LIMK2|transcript|NM_016733.2|Coding|15/15|c.*26G>T|||||26| 22 31679064 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|6/6|c.*6C>A|||||6|,T|3_prime_UTR_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|5/5|c.*197C>A|||||197| 22 31679110 . G C . . ANN=C|missense_variant|MODERATE|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|6/6|c.752C>G|p.Thr251Ser|942/2473|752/792|251/263||,C|3_prime_UTR_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|5/5|c.*151C>G|||||151| 22 31679211 . A G . . ANN=G|synonymous_variant|LOW|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|6/6|c.651T>C|p.Thr217Thr|841/2473|651/792|217/263||,G|3_prime_UTR_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|5/5|c.*50T>C|||||50| 22 31679286 . AAAAC A . . ANN=A|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|5/5|c.588-16_588-13delGTTT||||||,A|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|4/4|c.509-16_509-13delGTTT|||||| 22 31679321 . A T . . ANN=T|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|5/5|c.588-47T>A||||||,T|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|4/4|c.509-47T>A|||||| 22 31685256 . C G . . ANN=G|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|5/5|c.587+45G>C||||||,G|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|4/4|c.508+229G>C|||||| 22 31685371 . G A . . ANN=A|synonymous_variant|LOW|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|5/6|c.517C>T|p.Leu173Leu|707/2473|517/792|173/263||,A|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|4/4|c.508+114C>T|||||| 22 31685458 . G A . . ANN=A|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|4/5|c.508+27C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|4/4|c.508+27C>T|||||| 22 31685636 . C T . . ANN=T|synonymous_variant|LOW|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|4/6|c.357G>A|p.Ala119Ala|547/2473|357/792|119/263||,T|synonymous_variant|LOW|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|4/5|c.357G>A|p.Ala119Ala|547/2394|357/522|119/173|| 22 31686994 . G A . . ANN=A|synonymous_variant|LOW|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|3/6|c.264C>T|p.Ala88Ala|454/2473|264/792|88/263||,A|synonymous_variant|LOW|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|3/5|c.264C>T|p.Ala88Ala|454/2394|264/522|88/173|| 22 31687065 . C T . . ANN=T|missense_variant|MODERATE|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|3/6|c.193G>A|p.Gly65Ser|383/2473|193/792|65/263||,T|missense_variant|MODERATE|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|3/5|c.193G>A|p.Gly65Ser|383/2394|193/522|65/173|| 22 31687082 . G A . . ANN=A|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|2/5|c.188-12C>T||||||,A|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|2/4|c.188-12C>T|||||| 22 31687313 . A G . . ANN=G|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|1/5|c.71-31T>C||||||,G|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|1/4|c.71-31T>C|||||| 22 31688228 . A C . . ANN=C|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|1/5|c.70+33T>G||||||,C|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|1/4|c.70+33T>G|||||| 22 31688242 . G T . . ANN=T|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|1/5|c.70+19C>A||||||,T|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|1/4|c.70+19C>A|||||| 22 31688249 . T C . . ANN=C|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|1/5|c.70+12A>G||||||,C|intron_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|1/4|c.70+12A>G|||||| 22 31688288 . G A . . ANN=A|missense_variant|MODERATE|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|1/6|c.43C>T|p.Leu15Phe|233/2473|43/792|15/263||,A|missense_variant|MODERATE|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|1/5|c.43C>T|p.Leu15Phe|233/2394|43/522|15/173|| 22 31688312 . G T . . ANN=T|missense_variant|MODERATE|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|1/6|c.19C>A|p.Gln7Lys|209/2473|19/792|7/263||,T|missense_variant|MODERATE|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|1/5|c.19C>A|p.Gln7Lys|209/2394|19/522|7/173|| 22 31688345 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_052880.4|Coding|1/6|c.-15A>G|||||15|,C|5_prime_UTR_variant|MODIFIER|PIK3IP1|PIK3IP1|transcript|NM_001135911.1|Coding|1/5|c.-15A>G|||||15| 22 31722856 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|5/5|c.*21G>A|||||21|,T|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|4/4|c.*21G>A|||||21|,T|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|5/5|c.*406G>A|||||406| 22 31722857 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|5/5|c.*20C>T|||||20|,A|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|4/4|c.*20C>T|||||20|,A|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|5/5|c.*405C>T|||||405| 22 31722884 . C T . . ANN=T|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|5/5|c.2057G>A|p.Gly686Glu|2718/3812|2057/2064|686/687||,T|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|4/4|c.1919G>A|p.Gly640Glu|2580/3674|1919/1926|640/641||,T|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|5/5|c.*378G>A|||||378| 22 31722886 . T G . . ANN=G|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|5/5|c.2055A>C|p.Glu685Asp|2716/3812|2055/2064|685/687||,G|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|4/4|c.1917A>C|p.Glu639Asp|2578/3674|1917/1926|639/641||,G|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|5/5|c.*376A>C|||||376| 22 31723042 . C T . . ANN=T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|5/5|c.1899G>A|p.Gly633Gly|2560/3812|1899/2064|633/687||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|4/4|c.1761G>A|p.Gly587Gly|2422/3674|1761/1926|587/641||,T|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|5/5|c.*220G>A|||||220| 22 31723054 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|5/5|c.1887C>T|p.Val629Val|2548/3812|1887/2064|629/687||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|4/4|c.1749C>T|p.Val583Val|2410/3674|1749/1926|583/641||,A|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|5/5|c.*208C>T|||||208| 22 31723128 . ACTT A . . ANN=A|inframe_deletion|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|5/5|c.1810_1812delAAG|p.Lys604del|2473/3812|1810/2064|604/687||,A|inframe_deletion|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|4/4|c.1672_1674delAAG|p.Lys558del|2335/3674|1672/1926|558/641||,A|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|5/5|c.*131_*133delAAG|||||131| 22 31723292 . CCTT C . . ANN=C|disruptive_inframe_deletion&splice_region_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|5/5|c.1646_1648delAAG|p.Glu549del|2309/3812|1646/2064|549/687||,C|disruptive_inframe_deletion&splice_region_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|4/4|c.1508_1510delAAG|p.Glu503del|2171/3674|1508/1926|503/641||,C|disruptive_inframe_deletion&splice_region_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032052.1|Coding|5/5|c.1581_1583delAAG|p.Arg528del|2244/3747|1581/1614|527/537|| 22 31723299 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|4/4|c.1646-4G>A||||||,T|splice_region_variant&intron_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|3/3|c.1508-4G>A||||||,T|splice_region_variant&intron_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|4/4|c.1581-4G>A|||||| 22 31723322 . C A . . ANN=A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|4/4|c.1646-27G>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|3/3|c.1508-27G>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|4/4|c.1581-27G>T|||||| 22 31724942 . G A . . ANN=A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|3/4|c.1508-32C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|3/3|c.1508-1647C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|3/4|c.1508-97C>T|||||| 22 31737376 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032051.1|Coding|3/3|c.*15G>A|||||15|,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|2/4|c.1335+1507G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|2/3|c.1335+1507G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|2/4|c.1335+1507G>A|||||| 22 31737384 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032051.1|Coding|3/3|c.*7C>T|||||7|,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|2/4|c.1335+1499C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|2/3|c.1335+1499C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|2/4|c.1335+1499C>T|||||| 22 31737436 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|3/3|c.1569C>T|p.Thr523Thr|2230/3001|1569/1614|523/537||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|2/4|c.1335+1447C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|2/3|c.1335+1447C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|2/4|c.1335+1447C>T|||||| 22 31737559 . A G . . ANN=G|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|3/3|c.1446T>C|p.Pro482Pro|2107/3001|1446/1614|482/537||,G|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|2/4|c.1335+1324T>C||||||,G|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|2/3|c.1335+1324T>C||||||,G|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|2/4|c.1335+1324T>C|||||| 22 31737684 . G A . . ANN=A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|2/4|c.1335+1199C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|2/3|c.1335+1199C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|2/4|c.1335+1199C>T||||||,A|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032051.1|Coding|2/2|c.1336-15C>T|||||| 22 31738840 . C T . . ANN=T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|2/4|c.1335+43G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|2/3|c.1335+43G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|2/4|c.1335+43G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032051.1|Coding|2/2|c.1335+43G>A|||||| 22 31738862 . C G . . ANN=G|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|2/4|c.1335+21G>C||||||,G|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|2/3|c.1335+21G>C||||||,G|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|2/4|c.1335+21G>C||||||,G|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032051.1|Coding|2/2|c.1335+21G>C|||||| 22 31738928 . T C . . ANN=C|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|2/5|c.1290A>G|p.Gly430Gly|1951/3812|1290/2064|430/687||,C|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|2/4|c.1290A>G|p.Gly430Gly|1951/3674|1290/1926|430/641||,C|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|2/5|c.1290A>G|p.Gly430Gly|1951/3747|1290/1614|430/537||,C|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|2/3|c.1290A>G|p.Gly430Gly|1951/3001|1290/1614|430/537|| 22 31740282 . C T . . ANN=T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/4|c.1271+36G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/3|c.1271+36G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/4|c.1271+36G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/2|c.1271+36G>A|||||| 22 31740307 . C T . . ANN=T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/4|c.1271+11G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/3|c.1271+11G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/4|c.1271+11G>A||||||,T|intron_variant|MODIFIER|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/2|c.1271+11G>A|||||| 22 31740390 . T A . . ANN=A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.1199A>T|p.Tyr400Phe|1860/3812|1199/2064|400/687||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.1199A>T|p.Tyr400Phe|1860/3674|1199/1926|400/641||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.1199A>T|p.Tyr400Phe|1860/3747|1199/1614|400/537||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.1199A>T|p.Tyr400Phe|1860/3001|1199/1614|400/537|| 22 31740449 . C T . . ANN=T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.1140G>A|p.Glu380Glu|1801/3812|1140/2064|380/687||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.1140G>A|p.Glu380Glu|1801/3674|1140/1926|380/641||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.1140G>A|p.Glu380Glu|1801/3747|1140/1614|380/537||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.1140G>A|p.Glu380Glu|1801/3001|1140/1614|380/537|| 22 31740470 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.1119C>T|p.His373His|1780/3812|1119/2064|373/687||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.1119C>T|p.His373His|1780/3674|1119/1926|373/641||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.1119C>T|p.His373His|1780/3747|1119/1614|373/537||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.1119C>T|p.His373His|1780/3001|1119/1614|373/537|| 22 31740500 . G T . . ANN=T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.1089C>A|p.Ile363Ile|1750/3812|1089/2064|363/687||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.1089C>A|p.Ile363Ile|1750/3674|1089/1926|363/641||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.1089C>A|p.Ile363Ile|1750/3747|1089/1614|363/537||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.1089C>A|p.Ile363Ile|1750/3001|1089/1614|363/537|| 22 31740564 . G A . . ANN=A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.1025C>T|p.Pro342Leu|1686/3812|1025/2064|342/687||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.1025C>T|p.Pro342Leu|1686/3674|1025/1926|342/641||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.1025C>T|p.Pro342Leu|1686/3747|1025/1614|342/537||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.1025C>T|p.Pro342Leu|1686/3001|1025/1614|342/537|| 22 31740668 . G C . . ANN=C|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.921C>G|p.Leu307Leu|1582/3812|921/2064|307/687||,C|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.921C>G|p.Leu307Leu|1582/3674|921/1926|307/641||,C|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.921C>G|p.Leu307Leu|1582/3747|921/1614|307/537||,C|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.921C>G|p.Leu307Leu|1582/3001|921/1614|307/537|| 22 31740676 . T A . . ANN=A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.913A>T|p.Asn305Tyr|1574/3812|913/2064|305/687||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.913A>T|p.Asn305Tyr|1574/3674|913/1926|305/641||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.913A>T|p.Asn305Tyr|1574/3747|913/1614|305/537||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.913A>T|p.Asn305Tyr|1574/3001|913/1614|305/537|| 22 31740947 . C T . . ANN=T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.642G>A|p.Arg214Arg|1303/3812|642/2064|214/687||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.642G>A|p.Arg214Arg|1303/3674|642/1926|214/641||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.642G>A|p.Arg214Arg|1303/3747|642/1614|214/537||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.642G>A|p.Arg214Arg|1303/3001|642/1614|214/537|| 22 31740957 . T C . . ANN=C|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.632A>G|p.Glu211Gly|1293/3812|632/2064|211/687||,C|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.632A>G|p.Glu211Gly|1293/3674|632/1926|211/641||,C|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.632A>G|p.Glu211Gly|1293/3747|632/1614|211/537||,C|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.632A>G|p.Glu211Gly|1293/3001|632/1614|211/537|| 22 31740963 . T A . . ANN=A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.626A>T|p.Glu209Val|1287/3812|626/2064|209/687||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.626A>T|p.Glu209Val|1287/3674|626/1926|209/641||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.626A>T|p.Glu209Val|1287/3747|626/1614|209/537||,A|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.626A>T|p.Glu209Val|1287/3001|626/1614|209/537|| 22 31741023 . A G . . ANN=G|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.566T>C|p.Met189Thr|1227/3812|566/2064|189/687||,G|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.566T>C|p.Met189Thr|1227/3674|566/1926|189/641||,G|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.566T>C|p.Met189Thr|1227/3747|566/1614|189/537||,G|missense_variant|MODERATE|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.566T>C|p.Met189Thr|1227/3001|566/1614|189/537|| 22 31741067 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.522C>T|p.Leu174Leu|1183/3812|522/2064|174/687||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.522C>T|p.Leu174Leu|1183/3674|522/1926|174/641||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.522C>T|p.Leu174Leu|1183/3747|522/1614|174/537||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.522C>T|p.Leu174Leu|1183/3001|522/1614|174/537|| 22 31741358 . G A . . ANN=A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.231C>T|p.Gly77Gly|892/3812|231/2064|77/687||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.231C>T|p.Gly77Gly|892/3674|231/1926|77/641||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.231C>T|p.Gly77Gly|892/3747|231/1614|77/537||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.231C>T|p.Gly77Gly|892/3001|231/1614|77/537|| 22 31741517 . C T . . ANN=T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.72G>A|p.Thr24Thr|733/3812|72/2064|24/687||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.72G>A|p.Thr24Thr|733/3674|72/1926|24/641||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.72G>A|p.Thr24Thr|733/3747|72/1614|24/537||,T|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.72G>A|p.Thr24Thr|733/3001|72/1614|24/537|| 22 31741556 . C A . . ANN=A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_014323.2|Coding|1/5|c.33G>T|p.Pro11Pro|694/3812|33/2064|11/687||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032050.1|Coding|1/4|c.33G>T|p.Pro11Pro|694/3674|33/1926|11/641||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032052.1|Coding|1/5|c.33G>T|p.Pro11Pro|694/3747|33/1614|11/537||,A|synonymous_variant|LOW|PATZ1|PATZ1|transcript|NM_032051.1|Coding|1/3|c.33G>T|p.Pro11Pro|694/3001|33/1614|11/537|| 22 31795645 . T G . . ANN=G|5_prime_UTR_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|1/9|c.-25T>G|||||25| 22 31796559 . G A . . ANN=A|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|1/8|c.43-47G>A|||||| 22 31796563 . C T . . ANN=T|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|1/8|c.43-43C>T|||||| 22 31796632 . C G . . ANN=G|synonymous_variant|LOW|DRG1|DRG1|transcript|NM_004147.3|Coding|2/9|c.69C>G|p.Ala23Ala|200/1450|69/1104|23/367|| 22 31806965 . T A . . ANN=A|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|3/8|c.343-33T>A|||||| 22 31807042 . A G . . ANN=G|synonymous_variant|LOW|DRG1|DRG1|transcript|NM_004147.3|Coding|4/9|c.387A>G|p.Lys129Lys|518/1450|387/1104|129/367|| 22 31807115 . G T . . ANN=T|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|4/8|c.412+48G>T|||||| 22 31816199 . C T . . ANN=T|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|4/8|c.413-43C>T|||||| 22 31816217 . C T . . ANN=T|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|4/8|c.413-25C>T|||||| 22 31816256 . A C . . ANN=C|missense_variant|MODERATE|DRG1|DRG1|transcript|NM_004147.3|Coding|5/9|c.427A>C|p.Asn143His|558/1450|427/1104|143/367|| 22 31816404 . C T . . ANN=T|missense_variant|MODERATE|DRG1|DRG1|transcript|NM_004147.3|Coding|5/9|c.575C>T|p.Thr192Ile|706/1450|575/1104|192/367|| 22 31816421 . G A . . ANN=A|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|5/8|c.582+10G>A|||||| 22 31816430 . A G . . ANN=G|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|5/8|c.582+19A>G|||||| 22 31816439 . G A . . ANN=A|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|5/8|c.582+28G>A|||||| 22 31823094 . G A . . ANN=A|synonymous_variant|LOW|DRG1|DRG1|transcript|NM_004147.3|Coding|8/9|c.930G>A|p.Val310Val|1061/1450|930/1104|310/367|| 22 31823205 . A G . . ANN=G|intron_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|8/8|c.1004+37A>G|||||| 22 31829975 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|9/9|c.*18A>G|||||18| 22 31829981 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DRG1|DRG1|transcript|NM_004147.3|Coding|9/9|c.*24C>T|||||24| 22 31836042 . C T . . ANN=T|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|19/19|c.2782G>A|p.Val928Met|2980/3677|2782/2958|928/985||,T|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|17/17|c.2260G>A|p.Val754Met|2482/3179|2260/2436|754/811||,T|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|19/19|c.2782G>A|p.Val928Met|3004/3701|2782/2958|928/985|| 22 31836079 . A G . . ANN=G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|19/19|c.2745T>C|p.His915His|2943/3677|2745/2958|915/985||,G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|17/17|c.2223T>C|p.His741His|2445/3179|2223/2436|741/811||,G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|19/19|c.2745T>C|p.His915His|2967/3701|2745/2958|915/985|| 22 31836151 . A G . . ANN=G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|18/18|c.2717-44T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|16/16|c.2195-44T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|18/18|c.2717-44T>C|||||| 22 31836675 . C T . . ANN=T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|18/18|c.2716+15G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|16/16|c.2194+15G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|18/18|c.2716+15G>A|||||| 22 31836799 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|18/19|c.2607C>T|p.Ile869Ile|2805/3677|2607/2958|869/985||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|16/17|c.2085C>T|p.Ile695Ile|2307/3179|2085/2436|695/811||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|18/19|c.2607C>T|p.Ile869Ile|2829/3701|2607/2958|869/985|| 22 31836842 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|18/19|c.2564C>T|p.Pro855Leu|2762/3677|2564/2958|855/985||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|16/17|c.2042C>T|p.Pro681Leu|2264/3179|2042/2436|681/811||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|18/19|c.2564C>T|p.Pro855Leu|2786/3701|2564/2958|855/985|| 22 31837960 . C T . . ANN=T|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|17/19|c.2351G>A|p.Arg784Gln|2549/3677|2351/2958|784/985||,T|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|15/17|c.1829G>A|p.Arg610Gln|2051/3179|1829/2436|610/811||,T|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|17/19|c.2351G>A|p.Arg784Gln|2573/3701|2351/2958|784/985|| 22 31838014 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|17/19|c.2297C>T|p.Ser766Leu|2495/3677|2297/2958|766/985||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|15/17|c.1775C>T|p.Ser592Leu|1997/3179|1775/2436|592/811||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|17/19|c.2297C>T|p.Ser766Leu|2519/3701|2297/2958|766/985|| 22 31838070 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|17/19|c.2241C>T|p.Ala747Ala|2439/3677|2241/2958|747/985||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|15/17|c.1719C>T|p.Ala573Ala|1941/3179|1719/2436|573/811||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|17/19|c.2241C>T|p.Ala747Ala|2463/3701|2241/2958|747/985|| 22 31838085 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|17/19|c.2226C>T|p.Ser742Ser|2424/3677|2226/2958|742/985||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|15/17|c.1704C>T|p.Ser568Ser|1926/3179|1704/2436|568/811||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|17/19|c.2226C>T|p.Ser742Ser|2448/3701|2226/2958|742/985|| 22 31838138 . A T . . ANN=T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|16/18|c.2207-34T>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|14/16|c.1685-34T>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|16/18|c.2207-34T>A|||||| 22 31839123 . C T . . ANN=T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|15/18|c.2074-43G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|13/16|c.1552-43G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|15/18|c.2074-43G>A|||||| 22 31839124 . G A . . ANN=A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|15/18|c.2074-44C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|13/16|c.1552-44C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|15/18|c.2074-44C>T|||||| 22 31840691 . A G . . ANN=G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|14/18|c.1989-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|12/16|c.1467-15T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|14/18|c.1989-15T>C|||||| 22 31840693 . TATC T . . ANN=T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|14/18|c.1989-20_1989-18delGAT||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|12/16|c.1467-20_1467-18delGAT||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|14/18|c.1989-20_1989-18delGAT|||||| 22 31843489 . A C . . ANN=C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|14/19|c.1911T>G|p.Ala637Ala|2109/3677|1911/2958|637/985||,C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|12/17|c.1389T>G|p.Ala463Ala|1611/3179|1389/2436|463/811||,C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|14/19|c.1911T>G|p.Ala637Ala|2133/3701|1911/2958|637/985|| 22 31843567 . G C . . ANN=C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|13/18|c.1849-16C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|11/16|c.1324-13C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|13/18|c.1849-16C>G|||||| 22 31845304 . A C . . ANN=C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|12/18|c.1768+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|10/16|c.1243+30T>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|12/18|c.1768+30T>G|||||| 22 31845490 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|12/19|c.1612C>T|p.Pro538Ser|1810/3677|1612/2958|538/985||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|10/17|c.1087C>T|p.Pro363Ser|1309/3179|1087/2436|363/811||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|12/19|c.1612C>T|p.Pro538Ser|1834/3701|1612/2958|538/985|| 22 31850108 . G A . . ANN=A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|10/18|c.1512+22C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|8/16|c.987+58C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|10/18|c.1512+22C>T|||||| 22 31850116 . T C . . ANN=C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|10/18|c.1512+14A>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|8/16|c.987+50A>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|10/18|c.1512+14A>G|||||| 22 31850238 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|10/19|c.1404C>T|p.Ala468Ala|1602/3677|1404/2958|468/985||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|8/17|c.915C>T|p.Ala305Ala|1137/3179|915/2436|305/811||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|10/19|c.1404C>T|p.Ala468Ala|1626/3701|1404/2958|468/985|| 22 31850246 . A G . . ANN=G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|10/19|c.1396T>C|p.Leu466Leu|1594/3677|1396/2958|466/985||,G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|8/17|c.907T>C|p.Leu303Leu|1129/3179|907/2436|303/811||,G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|10/19|c.1396T>C|p.Leu466Leu|1618/3701|1396/2958|466/985|| 22 31851110 . A G . . ANN=G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|9/18|c.1279+12T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|7/16|c.790+12T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|9/18|c.1279+12T>C|||||| 22 31851183 . T C . . ANN=C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|9/19|c.1218A>G|p.Lys406Lys|1416/3677|1218/2958|406/985||,C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|7/17|c.729A>G|p.Lys243Lys|951/3179|729/2436|243/811||,C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|9/19|c.1218A>G|p.Lys406Lys|1440/3701|1218/2958|406/985|| 22 31851246 . A C . . ANN=C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|9/19|c.1155T>G|p.Pro385Pro|1353/3677|1155/2958|385/985||,C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|7/17|c.666T>G|p.Pro222Pro|888/3179|666/2436|222/811||,C|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|9/19|c.1155T>G|p.Pro385Pro|1377/3701|1155/2958|385/985|| 22 31851348 . G C . . ANN=C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|8/18|c.1100-47C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|6/16|c.611-47C>G||||||,C|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|8/18|c.1100-47C>G|||||| 22 31851821 . A G . . ANN=G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|8/18|c.1099+17T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|6/16|c.610+17T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|8/18|c.1099+17T>C|||||| 22 31854434 . AT A . . ANN=A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|7/18|c.963+26delA||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|5/16|c.474+26delA||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|7/18|c.963+26delA|||||| 22 31854531 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|7/19|c.893C>T|p.Pro298Leu|1091/3677|893/2958|298/985||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|5/17|c.404C>T|p.Pro135Leu|626/3179|404/2436|135/811||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|7/19|c.893C>T|p.Pro298Leu|1115/3701|893/2958|298/985|| 22 31854566 . C T . . ANN=T|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|7/19|c.858G>A|p.Ala286Ala|1056/3677|858/2958|286/985||,T|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|5/17|c.369G>A|p.Ala123Ala|591/3179|369/2436|123/811||,T|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|7/19|c.858G>A|p.Ala286Ala|1080/3701|858/2958|286/985|| 22 31854663 . G A . . ANN=A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|6/18|c.788-27C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.299-27C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|6/18|c.788-27C>T|||||| 22 31858975 . C T . . ANN=T|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|6/19|c.730G>A|p.Glu244Lys|928/3677|730/2958|244/985||,T|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|6/19|c.730G>A|p.Glu244Lys|952/3701|730/2958|244/985||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.299-4339G>A|||||| 22 31859006 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|6/19|c.699C>T|p.Ile233Ile|897/3677|699/2958|233/985||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|6/19|c.699C>T|p.Ile233Ile|921/3701|699/2958|233/985||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.299-4370C>T|||||| 22 31859135 . A G . . ANN=G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/18|c.586-16T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.299-4499T>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/18|c.586-16T>C|||||| 22 31859637 . TA T,TAA . . ANN=T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/18|c.585+29delT||||||,TAA|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/18|c.585+28_585+29insT||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4523delT||||||,TAA|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4522_298+4523insT||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/18|c.585+29delT||||||,TAA|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/18|c.585+28_585+29insT|||||| 22 31859784 . G T . . ANN=T|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/19|c.468C>A|p.Gly156Gly|666/3677|468/2958|156/985||,T|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/19|c.468C>A|p.Gly156Gly|690/3701|468/2958|156/985||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4377C>A|||||| 22 31859805 . C G . . ANN=G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/19|c.447G>C|p.Leu149Leu|645/3677|447/2958|149/985||,G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/19|c.447G>C|p.Leu149Leu|669/3701|447/2958|149/985||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4356G>C|||||| 22 31859852 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/19|c.400C>T|p.Arg134Trp|598/3677|400/2958|134/985||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/19|c.400C>T|p.Arg134Trp|622/3701|400/2958|134/985||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4309C>T|||||| 22 31859854 . G A . . ANN=A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/19|c.398C>T|p.Ser133Phe|596/3677|398/2958|133/985||,A|missense_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/19|c.398C>T|p.Ser133Phe|620/3701|398/2958|133/985||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4307C>T|||||| 22 31859859 . A G . . ANN=G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/19|c.393T>C|p.Val131Val|591/3677|393/2958|131/985||,G|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/19|c.393T>C|p.Val131Val|615/3701|393/2958|131/985||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4302T>C|||||| 22 31859865 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/19|c.387C>T|p.Ala129Ala|585/3677|387/2958|129/985||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/19|c.387C>T|p.Ala129Ala|609/3701|387/2958|129/985||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4296C>T|||||| 22 31859880 . G A . . ANN=A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|5/19|c.372C>T|p.Gly124Gly|570/3677|372/2958|124/985||,A|synonymous_variant|LOW|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|5/19|c.372C>T|p.Gly124Gly|594/3701|372/2958|124/985||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+4281C>T|||||| 22 31864113 . C G . . ANN=G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|4/18|c.298+48G>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+48G>C||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|4/18|c.298+48G>C|||||| 22 31864116 . GT G . . ANN=G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|4/18|c.298+44delA||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+44delA||||||,G|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|4/18|c.298+44delA|||||| 22 31864136 . C T . . ANN=T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|4/18|c.298+25G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+25G>A||||||,T|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|4/18|c.298+25G>A|||||| 22 31864150 . T A . . ANN=A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|4/18|c.298+11A>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|4/16|c.298+11A>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|4/18|c.298+11A>T|||||| 22 31867903 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|3/19|c.97G>A|p.Glu33Lys|295/3677|97/2958|33/985||,T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|3/17|c.97G>A|p.Glu33Lys|319/3179|97/2436|33/811||,T|missense_variant&splice_region_variant|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|3/19|c.97G>A|p.Glu33Lys|319/3701|97/2958|33/985|| 22 31867916 . G A . . ANN=A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|2/18|c.97-13C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|2/16|c.97-13C>T||||||,A|intron_variant|MODIFIER|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|2/18|c.97-13C>T|||||| 22 31884693 . TCTC T . . ANN=T|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164501.1|Coding|2/19|c.9_11delGAG|p.Arg4del|209/3677|9/2958|3/985||,T|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_001164502.1|Coding|2/17|c.9_11delGAG|p.Arg4del|233/3179|9/2436|3/811||,T|disruptive_inframe_deletion|MODERATE|EIF4ENIF1|EIF4ENIF1|transcript|NM_019843.3|Coding|2/19|c.9_11delGAG|p.Arg4del|233/3701|9/2958|3/985|| 22 31904262 . CTT C . . ANN=|5_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|2/33|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|2/31|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|2/31|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|2/31|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME,|5_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|2/32|c.-7_-6delTT|||||6|INFO_REALIGN_3_PRIME 22 31924798 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|3/33|c.215G>A|p.Arg72His|744/4391|215/3729|72/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|3/31|c.215G>A|p.Arg72His|744/4226|215/3564|72/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|3/32|c.215G>A|p.Arg72His|744/4298|215/3636|72/1211||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|2/30|c.93-18049G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|2/30|c.93-18049G>A|||||| 22 31924843 . G T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|3/33|c.260G>T|p.Arg87Leu|789/4391|260/3729|87/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|3/31|c.260G>T|p.Arg87Leu|789/4226|260/3564|87/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|3/32|c.260G>T|p.Arg87Leu|789/4298|260/3636|87/1211||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|2/30|c.93-18004G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|2/30|c.93-18004G>T|||||| 22 31942821 . T G . . ANN=G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|4/32|c.339-26T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|3/30|c.267-26T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|2/30|c.93-26T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|2/30|c.93-26T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|4/31|c.339-26T>G|||||| 22 31942829 . A AT . . ANN=AT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|4/32|c.339-18_339-17insT||||||,AT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|3/30|c.267-18_267-17insT||||||,AT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|2/30|c.93-18_93-17insT||||||,AT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|2/30|c.93-18_93-17insT||||||,AT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|4/31|c.339-18_339-17insT|||||| 22 31942837 . T C . . ANN=C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|4/32|c.339-10T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|3/30|c.267-10T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|2/30|c.93-10T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|2/30|c.93-10T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|4/31|c.339-10T>C|||||| 22 31942898 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|5/33|c.390G>A|p.Glu130Glu|919/4391|390/3729|130/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|4/31|c.318G>A|p.Glu106Glu|847/4226|318/3564|106/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|3/31|c.144G>A|p.Glu48Glu|669/4141|144/3483|48/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|3/31|c.144G>A|p.Glu48Glu|673/4109|144/3447|48/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|5/32|c.390G>A|p.Glu130Glu|919/4298|390/3636|130/1211|| 22 31942919 . C T . . ANN=T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|5/33|c.411C>T|p.His137His|940/4391|411/3729|137/1242||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|4/31|c.339C>T|p.His113His|868/4226|339/3564|113/1187||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|3/31|c.165C>T|p.His55His|690/4141|165/3483|55/1160||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|3/31|c.165C>T|p.His55His|694/4109|165/3447|55/1148||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|5/32|c.411C>T|p.His137His|940/4298|411/3636|137/1211|| 22 31942974 . C T . . ANN=T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|5/32|c.449+17C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|4/30|c.377+17C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|3/30|c.203+17C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|3/30|c.203+17C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|5/31|c.449+17C>T|||||| 22 31946282 . T C . . ANN=C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|6/33|c.492T>C|p.Tyr164Tyr|1021/4391|492/3729|164/1242||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|5/31|c.420T>C|p.Tyr140Tyr|949/4226|420/3564|140/1187||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|4/31|c.246T>C|p.Tyr82Tyr|771/4141|246/3483|82/1160||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|4/31|c.246T>C|p.Tyr82Tyr|775/4109|246/3447|82/1148||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|6/32|c.492T>C|p.Tyr164Tyr|1021/4298|492/3636|164/1211|| 22 31946287 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|6/33|c.497G>A|p.Arg166His|1026/4391|497/3729|166/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|5/31|c.425G>A|p.Arg142His|954/4226|425/3564|142/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|4/31|c.251G>A|p.Arg84His|776/4141|251/3483|84/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|4/31|c.251G>A|p.Arg84His|780/4109|251/3447|84/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|6/32|c.497G>A|p.Arg166His|1026/4298|497/3636|166/1211|| 22 31946300 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|6/33|c.510G>A|p.Glu170Glu|1039/4391|510/3729|170/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|5/31|c.438G>A|p.Glu146Glu|967/4226|438/3564|146/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|4/31|c.264G>A|p.Glu88Glu|789/4141|264/3483|88/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|4/31|c.264G>A|p.Glu88Glu|793/4109|264/3447|88/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|6/32|c.510G>A|p.Glu170Glu|1039/4298|510/3636|170/1211|| 22 31946325 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|6/33|c.535G>A|p.Glu179Lys|1064/4391|535/3729|179/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|5/31|c.463G>A|p.Glu155Lys|992/4226|463/3564|155/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|4/31|c.289G>A|p.Glu97Lys|814/4141|289/3483|97/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|4/31|c.289G>A|p.Glu97Lys|818/4109|289/3447|97/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|6/32|c.535G>A|p.Glu179Lys|1064/4298|535/3636|179/1211|| 22 31952937 . A G . . ANN=G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|7/33|c.554A>G|p.Gln185Arg|1083/4391|554/3729|185/1242||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|6/31|c.482A>G|p.Gln161Arg|1011/4226|482/3564|161/1187||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|5/31|c.308A>G|p.Gln103Arg|833/4141|308/3483|103/1160||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|5/31|c.308A>G|p.Gln103Arg|837/4109|308/3447|103/1148||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|7/32|c.554A>G|p.Gln185Arg|1083/4298|554/3636|185/1211|| 22 31957291 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|8/33|c.678G>A|p.Thr226Thr|1207/4391|678/3729|226/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|7/31|c.606G>A|p.Thr202Thr|1135/4226|606/3564|202/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|6/31|c.432G>A|p.Thr144Thr|957/4141|432/3483|144/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|6/31|c.432G>A|p.Thr144Thr|961/4109|432/3447|144/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|8/32|c.678G>A|p.Thr226Thr|1207/4298|678/3636|226/1211|| 22 31969137 . C T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|9/33|c.859C>T|p.Arg287Trp|1388/4391|859/3729|287/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|8/31|c.787C>T|p.Arg263Trp|1316/4226|787/3564|263/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|7/31|c.613C>T|p.Arg205Trp|1138/4141|613/3483|205/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|7/31|c.613C>T|p.Arg205Trp|1142/4109|613/3447|205/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|9/32|c.859C>T|p.Arg287Trp|1388/4298|859/3636|287/1211|| 22 31969182 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|9/33|c.904G>A|p.Val302Met|1433/4391|904/3729|302/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|8/31|c.832G>A|p.Val278Met|1361/4226|832/3564|278/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|7/31|c.658G>A|p.Val220Met|1183/4141|658/3483|220/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|7/31|c.658G>A|p.Val220Met|1187/4109|658/3447|220/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|9/32|c.904G>A|p.Val302Met|1433/4298|904/3636|302/1211|| 22 31969249 . T G . . ANN=G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|9/32|c.922+49T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|8/30|c.850+49T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|7/30|c.676+49T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|7/30|c.676+49T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|9/31|c.922+49T>G|||||| 22 31971172 . A ATCT . . ANN=ATCT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|9/32|c.923-45_923-44insTCT||||||,ATCT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|8/30|c.851-45_851-44insTCT||||||,ATCT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|7/30|c.677-45_677-44insTCT||||||,ATCT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|7/30|c.677-45_677-44insTCT||||||,ATCT|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|9/31|c.923-45_923-44insTCT|||||| 22 31971174 . C CTTA . . ANN=CTTA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|9/32|c.923-43_923-42insTTA||||||,CTTA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|8/30|c.851-43_851-42insTTA||||||,CTTA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|7/30|c.677-43_677-42insTTA||||||,CTTA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|7/30|c.677-43_677-42insTTA||||||,CTTA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|9/31|c.923-43_923-42insTTA|||||| 22 31971184 . G A . . ANN=A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|9/32|c.923-33G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|8/30|c.851-33G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|7/30|c.677-33G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|7/30|c.677-33G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|9/31|c.923-33G>A|||||| 22 31971186 . G T . . ANN=T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|9/32|c.923-31G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|8/30|c.851-31G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|7/30|c.677-31G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|7/30|c.677-31G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|9/31|c.923-31G>T|||||| 22 31971258 . T C . . ANN=C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|10/33|c.964T>C|p.Tyr322His|1493/4391|964/3729|322/1242||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|9/31|c.892T>C|p.Tyr298His|1421/4226|892/3564|298/1187||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|8/31|c.718T>C|p.Tyr240His|1243/4141|718/3483|240/1160||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|8/31|c.718T>C|p.Tyr240His|1247/4109|718/3447|240/1148||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|10/32|c.964T>C|p.Tyr322His|1493/4298|964/3636|322/1211|| 22 31971276 . CA C . . ANN=C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_001007467.2|Coding|10/33|c.983delA|p.Gln328fs|1512/4391|983/3729|328/1242||,C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_001258325.1|Coding|9/31|c.911delA|p.Gln304fs|1440/4226|911/3564|304/1187||,C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_001258326.1|Coding|8/31|c.737delA|p.Gln246fs|1262/4141|737/3483|246/1160||,C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_001258327.1|Coding|8/31|c.737delA|p.Gln246fs|1266/4109|737/3447|246/1148||,C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_014775.3|Coding|10/32|c.983delA|p.Gln328fs|1512/4298|983/3636|328/1211||;LOF=(SFI1|SFI1|5|1.00) 22 31971282 . T C . . ANN=C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|10/33|c.988T>C|p.Trp330Arg|1517/4391|988/3729|330/1242||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|9/31|c.916T>C|p.Trp306Arg|1445/4226|916/3564|306/1187||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|8/31|c.742T>C|p.Trp248Arg|1267/4141|742/3483|248/1160||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|8/31|c.742T>C|p.Trp248Arg|1271/4109|742/3447|248/1148||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|10/32|c.988T>C|p.Trp330Arg|1517/4298|988/3636|330/1211|| 22 31971332 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|10/33|c.1038G>A|p.Leu346Leu|1567/4391|1038/3729|346/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|9/31|c.966G>A|p.Leu322Leu|1495/4226|966/3564|322/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|8/31|c.792G>A|p.Leu264Leu|1317/4141|792/3483|264/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|8/31|c.792G>A|p.Leu264Leu|1321/4109|792/3447|264/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|10/32|c.1038G>A|p.Leu346Leu|1567/4298|1038/3636|346/1211|| 22 31971351 . C T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|10/33|c.1057C>T|p.Arg353Trp|1586/4391|1057/3729|353/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|9/31|c.985C>T|p.Arg329Trp|1514/4226|985/3564|329/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|8/31|c.811C>T|p.Arg271Trp|1336/4141|811/3483|271/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|8/31|c.811C>T|p.Arg271Trp|1340/4109|811/3447|271/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|10/32|c.1057C>T|p.Arg353Trp|1586/4298|1057/3636|353/1211|| 22 31971355 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|10/33|c.1061G>A|p.Arg354His|1590/4391|1061/3729|354/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|9/31|c.989G>A|p.Arg330His|1518/4226|989/3564|330/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|8/31|c.815G>A|p.Arg272His|1340/4141|815/3483|272/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|8/31|c.815G>A|p.Arg272His|1344/4109|815/3447|272/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|10/32|c.1061G>A|p.Arg354His|1590/4298|1061/3636|354/1211|| 22 31974397 . C A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|11/33|c.1114C>A|p.Gln372Lys|1643/4391|1114/3729|372/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|10/31|c.1042C>A|p.Gln348Lys|1571/4226|1042/3564|348/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|9/31|c.868C>A|p.Gln290Lys|1393/4141|868/3483|290/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|9/31|c.868C>A|p.Gln290Lys|1397/4109|868/3447|290/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|11/32|c.1114C>A|p.Gln372Lys|1643/4298|1114/3636|372/1211|| 22 31974435 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|11/33|c.1152G>A|p.Gln384Gln|1681/4391|1152/3729|384/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|10/31|c.1080G>A|p.Gln360Gln|1609/4226|1080/3564|360/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|9/31|c.906G>A|p.Gln302Gln|1431/4141|906/3483|302/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|9/31|c.906G>A|p.Gln302Gln|1435/4109|906/3447|302/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|11/32|c.1152G>A|p.Gln384Gln|1681/4298|1152/3636|384/1211|| 22 31974468 . G A . . ANN=A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|11/32|c.1155+30G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|10/30|c.1083+30G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|9/30|c.909+30G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|9/30|c.909+30G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|11/31|c.1155+30G>A|||||| 22 31976235 . A G . . ANN=G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|11/32|c.1156-23A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|10/30|c.1083+1797A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|9/30|c.910-23A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|9/30|c.910-23A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|11/31|c.1155+1797A>G|||||| 22 31976283 . A G . . ANN=G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|12/33|c.1181A>G|p.Asp394Gly|1710/4391|1181/3729|394/1242||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|10/31|c.935A>G|p.Asp312Gly|1460/4141|935/3483|312/1160||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|10/31|c.935A>G|p.Asp312Gly|1464/4109|935/3447|312/1148||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|10/30|c.1083+1845A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|11/31|c.1155+1845A>G|||||| 22 31976299 . T C . . ANN=C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|12/33|c.1197T>C|p.Ala399Ala|1726/4391|1197/3729|399/1242||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|10/31|c.951T>C|p.Ala317Ala|1476/4141|951/3483|317/1160||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|10/31|c.951T>C|p.Ala317Ala|1480/4109|951/3447|317/1148||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|10/30|c.1083+1861T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|11/31|c.1155+1861T>C|||||| 22 31976357 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|12/32|c.1248+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|10/30|c.1002+7G>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|10/30|c.1002+7G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|10/30|c.1083+1919G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|11/31|c.1155+1919G>T|||||| 22 31979911 . G T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|13/33|c.1299G>T|p.Lys433Asn|1828/4391|1299/3729|433/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|11/31|c.1134G>T|p.Lys378Asn|1663/4226|1134/3564|378/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|11/31|c.1053G>T|p.Lys351Asn|1578/4141|1053/3483|351/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|11/31|c.1053G>T|p.Lys351Asn|1582/4109|1053/3447|351/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|12/32|c.1206G>T|p.Lys402Asn|1735/4298|1206/3636|402/1211|| 22 31979937 . A T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|13/33|c.1325A>T|p.His442Leu|1854/4391|1325/3729|442/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|11/31|c.1160A>T|p.His387Leu|1689/4226|1160/3564|387/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|11/31|c.1079A>T|p.His360Leu|1604/4141|1079/3483|360/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|11/31|c.1079A>T|p.His360Leu|1608/4109|1079/3447|360/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|12/32|c.1232A>T|p.His411Leu|1761/4298|1232/3636|411/1211|| 22 31981152 . T C . . ANN=C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|14/32|c.1413+32T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|12/30|c.1248+32T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|12/30|c.1167+32T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|12/30|c.1167+32T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|13/31|c.1320+32T>C|||||| 22 31985433 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/33|c.1414C>T|p.Leu472Leu|1943/4391|1414/3729|472/1242||,T|splice_region_variant&synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/31|c.1249C>T|p.Leu417Leu|1778/4226|1249/3564|417/1187||,T|splice_region_variant&synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/31|c.1168C>T|p.Leu390Leu|1693/4141|1168/3483|390/1160||,T|splice_region_variant&synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/31|c.1168C>T|p.Leu390Leu|1697/4109|1168/3447|390/1148||,T|splice_region_variant&synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|14/32|c.1321C>T|p.Leu441Leu|1850/4298|1321/3636|441/1211|| 22 31985498 . G T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/33|c.1479G>T|p.Trp493Cys|2008/4391|1479/3729|493/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/31|c.1314G>T|p.Trp438Cys|1843/4226|1314/3564|438/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/31|c.1233G>T|p.Trp411Cys|1758/4141|1233/3483|411/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/31|c.1233G>T|p.Trp411Cys|1762/4109|1233/3447|411/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|14/32|c.1386G>T|p.Trp462Cys|1915/4298|1386/3636|462/1211|| 22 31985517 . C T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/33|c.1498C>T|p.Arg500Cys|2027/4391|1498/3729|500/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/31|c.1333C>T|p.Arg445Cys|1862/4226|1333/3564|445/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/31|c.1252C>T|p.Arg418Cys|1777/4141|1252/3483|418/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/31|c.1252C>T|p.Arg418Cys|1781/4109|1252/3447|418/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|14/32|c.1405C>T|p.Arg469Cys|1934/4298|1405/3636|469/1211|| 22 31985522 . C A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/33|c.1503C>A|p.His501Gln|2032/4391|1503/3729|501/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/31|c.1338C>A|p.His446Gln|1867/4226|1338/3564|446/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/31|c.1257C>A|p.His419Gln|1782/4141|1257/3483|419/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/31|c.1257C>A|p.His419Gln|1786/4109|1257/3447|419/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|14/32|c.1410C>A|p.His470Gln|1939/4298|1410/3636|470/1211|| 22 31985554 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/33|c.1535G>A|p.Arg512His|2064/4391|1535/3729|512/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/31|c.1370G>A|p.Arg457His|1899/4226|1370/3564|457/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/31|c.1289G>A|p.Arg430His|1814/4141|1289/3483|430/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/31|c.1289G>A|p.Arg430His|1818/4109|1289/3447|430/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|14/32|c.1442G>A|p.Arg481His|1971/4298|1442/3636|481/1211|| 22 31985612 . ACT A . . ANN=A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/32|c.1544+50_1544+51delCT||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/30|c.1379+50_1379+51delCT||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/30|c.1298+50_1298+51delCT||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/30|c.1298+50_1298+51delCT||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|14/31|c.1451+50_1451+51delCT|||||| 22 31998158 . T G . . ANN=G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/32|c.1545-40T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/30|c.1380-40T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/30|c.1299-40T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/30|c.1299-40T>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|14/31|c.1452-40T>G|||||| 22 31998159 . G T . . ANN=T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/32|c.1545-39G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/30|c.1380-39G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/30|c.1299-39G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/30|c.1299-39G>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|14/31|c.1452-39G>T|||||| 22 31998172 . G A . . ANN=A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|15/32|c.1545-26G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|13/30|c.1380-26G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|13/30|c.1299-26G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|13/30|c.1299-26G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|14/31|c.1452-26G>A|||||| 22 31998572 . C G . . ANN=G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|16/32|c.1627-21C>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|14/30|c.1462-21C>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|14/30|c.1381-21C>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|14/30|c.1381-21C>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|15/31|c.1534-21C>G|||||| 22 31998612 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|17/33|c.1646G>A|p.Arg549Gln|2175/4391|1646/3729|549/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|15/31|c.1481G>A|p.Arg494Gln|2010/4226|1481/3564|494/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|15/31|c.1400G>A|p.Arg467Gln|1925/4141|1400/3483|467/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|15/31|c.1400G>A|p.Arg467Gln|1929/4109|1400/3447|467/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|16/32|c.1553G>A|p.Arg518Gln|2082/4298|1553/3636|518/1211|| 22 31998699 . CCCA C . . ANN=|disruptive_inframe_deletion|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|17/33|c.1739_1741delACC|p.His580del|2268/4391|1739/3729|580/1242||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|15/31|c.1574_1576delACC|p.His525del|2103/4226|1574/3564|525/1187||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|15/31|c.1493_1495delACC|p.His498del|2018/4141|1493/3483|498/1160||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|15/31|c.1493_1495delACC|p.His498del|2022/4109|1493/3447|498/1148||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|16/32|c.1646_1648delACC|p.His549del|2175/4298|1646/3636|549/1211||INFO_REALIGN_3_PRIME 22 31998739 . C T . . ANN=T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|17/33|c.1773C>T|p.Leu591Leu|2302/4391|1773/3729|591/1242||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|15/31|c.1608C>T|p.Leu536Leu|2137/4226|1608/3564|536/1187||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|15/31|c.1527C>T|p.Leu509Leu|2052/4141|1527/3483|509/1160||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|15/31|c.1527C>T|p.Leu509Leu|2056/4109|1527/3447|509/1148||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|16/32|c.1680C>T|p.Leu560Leu|2209/4298|1680/3636|560/1211|| 22 31998808 . A C . . ANN=C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|17/32|c.1805+37A>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|15/30|c.1640+37A>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|15/30|c.1559+37A>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|15/30|c.1559+37A>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|16/31|c.1712+37A>C|||||| 22 31999692 . TG T . . ANN=T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|17/32|c.1806-37delG||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|15/30|c.1641-37delG||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|15/30|c.1560-37delG||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|15/30|c.1560-37delG||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|16/31|c.1713-37delG|||||| 22 31999846 . G C . . ANN=C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|18/32|c.1881+41G>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|16/30|c.1716+41G>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|16/30|c.1635+41G>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|16/30|c.1635+41G>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|17/31|c.1788+41G>C|||||| 22 32000271 . A G . . ANN=G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|18/32|c.1882-24A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|16/30|c.1717-24A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|16/30|c.1636-24A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|16/30|c.1636-24A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|17/31|c.1789-24A>G|||||| 22 32000307 . C T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|19/33|c.1894C>T|p.Arg632Trp|2423/4391|1894/3729|632/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|17/31|c.1729C>T|p.Arg577Trp|2258/4226|1729/3564|577/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|17/31|c.1648C>T|p.Arg550Trp|2173/4141|1648/3483|550/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|17/31|c.1648C>T|p.Arg550Trp|2177/4109|1648/3447|550/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|18/32|c.1801C>T|p.Arg601Trp|2330/4298|1801/3636|601/1211|| 22 32000366 . G C . . ANN=C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|19/33|c.1953G>C|p.Leu651Leu|2482/4391|1953/3729|651/1242||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|17/31|c.1788G>C|p.Leu596Leu|2317/4226|1788/3564|596/1187||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|17/31|c.1707G>C|p.Leu569Leu|2232/4141|1707/3483|569/1160||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|17/31|c.1707G>C|p.Leu569Leu|2236/4109|1707/3447|569/1148||,C|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|18/32|c.1860G>C|p.Leu620Leu|2389/4298|1860/3636|620/1211|| 22 32000872 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|20/33|c.1995G>A|p.Val665Val|2524/4391|1995/3729|665/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|18/31|c.1830G>A|p.Val610Val|2359/4226|1830/3564|610/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|18/31|c.1749G>A|p.Val583Val|2274/4141|1749/3483|583/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|18/31|c.1749G>A|p.Val583Val|2278/4109|1749/3447|583/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|19/32|c.1902G>A|p.Val634Val|2431/4298|1902/3636|634/1211|| 22 32000930 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|20/33|c.2053C>T|p.Arg685Cys|2582/4391|2053/3729|685/1242||,T|missense_variant&splice_region_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|18/31|c.1888C>T|p.Arg630Cys|2417/4226|1888/3564|630/1187||,T|missense_variant&splice_region_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|18/31|c.1807C>T|p.Arg603Cys|2332/4141|1807/3483|603/1160||,T|missense_variant&splice_region_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|18/31|c.1807C>T|p.Arg603Cys|2336/4109|1807/3447|603/1148||,T|missense_variant&splice_region_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|19/32|c.1960C>T|p.Arg654Cys|2489/4298|1960/3636|654/1211|| 22 32000938 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|20/32|c.2054+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|18/30|c.1889+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|18/30|c.1808+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|18/30|c.1808+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|19/31|c.1961+7C>T|||||| 22 32000943 . G A . . ANN=A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|20/32|c.2054+12G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|18/30|c.1889+12G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|18/30|c.1808+12G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|18/30|c.1808+12G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|19/31|c.1961+12G>A|||||| 22 32002294 . T C . . ANN=C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|20/32|c.2055-20T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|18/30|c.1890-20T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|18/30|c.1809-20T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|18/30|c.1809-20T>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|19/31|c.1962-20T>C|||||| 22 32002351 . C G . . ANN=G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|21/33|c.2092C>G|p.Arg698Gly|2621/4391|2092/3729|698/1242||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|19/31|c.1927C>G|p.Arg643Gly|2456/4226|1927/3564|643/1187||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|19/31|c.1846C>G|p.Arg616Gly|2371/4141|1846/3483|616/1160||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|19/31|c.1846C>G|p.Arg616Gly|2375/4109|1846/3447|616/1148||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|20/32|c.1999C>G|p.Arg667Gly|2528/4298|1999/3636|667/1211|| 22 32003931 . C G . . ANN=G|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|22/33|c.2166C>G|p.Val722Val|2695/4391|2166/3729|722/1242||,G|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|20/31|c.2001C>G|p.Val667Val|2530/4226|2001/3564|667/1187||,G|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|20/31|c.1920C>G|p.Val640Val|2445/4141|1920/3483|640/1160||,G|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|20/31|c.1884C>G|p.Val628Val|2413/4109|1884/3447|628/1148||,G|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|21/32|c.2073C>G|p.Val691Val|2602/4298|2073/3636|691/1211|| 22 32003939 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|22/33|c.2174G>A|p.Arg725Gln|2703/4391|2174/3729|725/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|20/31|c.2009G>A|p.Arg670Gln|2538/4226|2009/3564|670/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|20/31|c.1928G>A|p.Arg643Gln|2453/4141|1928/3483|643/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|20/31|c.1892G>A|p.Arg631Gln|2421/4109|1892/3447|631/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|21/32|c.2081G>A|p.Arg694Gln|2610/4298|2081/3636|694/1211|| 22 32007091 . C G . . ANN=G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|22/32|c.2255-38C>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|20/30|c.2090-38C>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|20/30|c.2009-38C>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|20/30|c.1973-38C>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|21/31|c.2162-38C>G|||||| 22 32007137 . C T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|23/33|c.2263C>T|p.Arg755Trp|2792/4391|2263/3729|755/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|21/31|c.2098C>T|p.Arg700Trp|2627/4226|2098/3564|700/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|21/31|c.2017C>T|p.Arg673Trp|2542/4141|2017/3483|673/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|21/31|c.1981C>T|p.Arg661Trp|2510/4109|1981/3447|661/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|22/32|c.2170C>T|p.Arg724Trp|2699/4298|2170/3636|724/1211|| 22 32007153 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|23/33|c.2279G>A|p.Arg760His|2808/4391|2279/3729|760/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|21/31|c.2114G>A|p.Arg705His|2643/4226|2114/3564|705/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|21/31|c.2033G>A|p.Arg678His|2558/4141|2033/3483|678/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|21/31|c.1997G>A|p.Arg666His|2526/4109|1997/3447|666/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|22/32|c.2186G>A|p.Arg729His|2715/4298|2186/3636|729/1211|| 22 32007217 . C T . . ANN=T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|23/33|c.2343C>T|p.His781His|2872/4391|2343/3729|781/1242||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|21/31|c.2178C>T|p.His726His|2707/4226|2178/3564|726/1187||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|21/31|c.2097C>T|p.His699His|2622/4141|2097/3483|699/1160||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|21/31|c.2061C>T|p.His687His|2590/4109|2061/3447|687/1148||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|22/32|c.2250C>T|p.His750His|2779/4298|2250/3636|750/1211|| 22 32007264 . A T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|23/33|c.2390A>T|p.His797Leu|2919/4391|2390/3729|797/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|21/31|c.2225A>T|p.His742Leu|2754/4226|2225/3564|742/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|21/31|c.2144A>T|p.His715Leu|2669/4141|2144/3483|715/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|21/31|c.2108A>T|p.His703Leu|2637/4109|2108/3447|703/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|22/32|c.2297A>T|p.His766Leu|2826/4298|2297/3636|766/1211|| 22 32007810 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|24/33|c.2474G>A|p.Arg825His|3003/4391|2474/3729|825/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|22/31|c.2309G>A|p.Arg770His|2838/4226|2309/3564|770/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|22/31|c.2228G>A|p.Arg743His|2753/4141|2228/3483|743/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|22/31|c.2192G>A|p.Arg731His|2721/4109|2192/3447|731/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|23/32|c.2381G>A|p.Arg794His|2910/4298|2381/3636|794/1211|| 22 32007863 . C T . . ANN=T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|24/32|c.2490+37C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|22/30|c.2325+37C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|22/30|c.2244+37C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|22/30|c.2208+37C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|23/31|c.2397+37C>T|||||| 22 32007867 . A G . . ANN=G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|24/32|c.2490+41A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|22/30|c.2325+41A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|22/30|c.2244+41A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|22/30|c.2208+41A>G||||||,G|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|23/31|c.2397+41A>G|||||| 22 32007869 . C T . . ANN=T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|24/32|c.2490+43C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|22/30|c.2325+43C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|22/30|c.2244+43C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|22/30|c.2208+43C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|23/31|c.2397+43C>T|||||| 22 32009184 . C A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|25/33|c.2547C>A|p.Ala849Ala|3076/4391|2547/3729|849/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|23/31|c.2382C>A|p.Ala794Ala|2911/4226|2382/3564|794/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|23/31|c.2301C>A|p.Ala767Ala|2826/4141|2301/3483|767/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|23/31|c.2265C>A|p.Ala755Ala|2794/4109|2265/3447|755/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|24/32|c.2454C>A|p.Ala818Ala|2983/4298|2454/3636|818/1211|| 22 32009308 . G C . . ANN=C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|25/32|c.2566-32G>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|23/30|c.2401-32G>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|23/30|c.2320-32G>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|23/30|c.2284-32G>C||||||,C|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|24/31|c.2473-32G>C|||||| 22 32009328 . C T . . ANN=T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|25/32|c.2566-12C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|23/30|c.2401-12C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|23/30|c.2320-12C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|23/30|c.2284-12C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|24/31|c.2473-12C>T|||||| 22 32009455 . T G . . ANN=G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|26/33|c.2681T>G|p.Leu894Arg|3210/4391|2681/3729|894/1242||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|24/31|c.2516T>G|p.Leu839Arg|3045/4226|2516/3564|839/1187||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|24/31|c.2435T>G|p.Leu812Arg|2960/4141|2435/3483|812/1160||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|24/31|c.2399T>G|p.Leu800Arg|2928/4109|2399/3447|800/1148||,G|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|25/32|c.2588T>G|p.Leu863Arg|3117/4298|2588/3636|863/1211|| 22 32009521 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|26/32|c.2742+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|24/30|c.2577+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|24/30|c.2496+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|24/30|c.2460+5G>A||||||,A|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|25/31|c.2649+5G>A|||||| 22 32009869 . C T . . ANN=T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|27/32|c.2996+28C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|25/30|c.2831+28C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|25/30|c.2750+28C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|25/30|c.2714+28C>T||||||,T|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|26/31|c.2903+28C>T|||||| 22 32010772 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|27/32|c.2997-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|25/30|c.2832-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|25/30|c.2751-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|25/30|c.2715-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|26/31|c.2904-3C>T|||||| 22 32011118 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|29/33|c.3153G>A|p.Pro1051Pro|3682/4391|3153/3729|1051/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|27/31|c.2988G>A|p.Pro996Pro|3517/4226|2988/3564|996/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|27/31|c.2907G>A|p.Pro969Pro|3432/4141|2907/3483|969/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|27/31|c.2871G>A|p.Pro957Pro|3400/4109|2871/3447|957/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|28/32|c.3060G>A|p.Pro1020Pro|3589/4298|3060/3636|1020/1211|| 22 32011225 . T C . . ANN=C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|29/33|c.3260T>C|p.Leu1087Pro|3789/4391|3260/3729|1087/1242||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|27/31|c.3095T>C|p.Leu1032Pro|3624/4226|3095/3564|1032/1187||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|27/31|c.3014T>C|p.Leu1005Pro|3539/4141|3014/3483|1005/1160||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|27/31|c.2978T>C|p.Leu993Pro|3507/4109|2978/3447|993/1148||,C|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|28/32|c.3167T>C|p.Leu1056Pro|3696/4298|3167/3636|1056/1211|| 22 32011250 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|29/33|c.3285G>A|p.Ala1095Ala|3814/4391|3285/3729|1095/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|27/31|c.3120G>A|p.Ala1040Ala|3649/4226|3120/3564|1040/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|27/31|c.3039G>A|p.Ala1013Ala|3564/4141|3039/3483|1013/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|27/31|c.3003G>A|p.Ala1001Ala|3532/4109|3003/3447|1001/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|28/32|c.3192G>A|p.Ala1064Ala|3721/4298|3192/3636|1064/1211|| 22 32012878 . C CCTGA . . ANN=CCTGA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|30/32|c.3433+15_3433+16insCTGA||||||,CCTGA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|28/30|c.3268+15_3268+16insCTGA||||||,CCTGA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|28/30|c.3187+15_3187+16insCTGA||||||,CCTGA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|28/30|c.3151+15_3151+16insCTGA||||||,CCTGA|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|29/31|c.3340+15_3340+16insCTGA|||||| 22 32014129 . C T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|32/33|c.3541C>T|p.Arg1181Cys|4070/4391|3541/3729|1181/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|30/31|c.3376C>T|p.Arg1126Cys|3905/4226|3376/3564|1126/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|30/31|c.3295C>T|p.Arg1099Cys|3820/4141|3295/3483|1099/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|30/31|c.3259C>T|p.Arg1087Cys|3788/4109|3259/3447|1087/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|31/32|c.3448C>T|p.Arg1150Cys|3977/4298|3448/3636|1150/1211|| 22 32014131 . CA C . . ANN=C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_001007467.2|Coding|32/33|c.3544delA|p.Arg1182fs|4073/4391|3544/3729|1182/1242||,C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_001258325.1|Coding|30/31|c.3379delA|p.Arg1127fs|3908/4226|3379/3564|1127/1187||,C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_001258326.1|Coding|30/31|c.3298delA|p.Arg1100fs|3823/4141|3298/3483|1100/1160||,C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_001258327.1|Coding|30/31|c.3262delA|p.Arg1088fs|3791/4109|3262/3447|1088/1148||,C|frameshift_variant|HIGH|SFI1|SFI1|transcript|NM_014775.3|Coding|31/32|c.3451delA|p.Arg1151fs|3980/4298|3451/3636|1151/1211||;LOF=(SFI1|SFI1|5|0.80) 22 32014160 . C T . . ANN=T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|32/33|c.3572C>T|p.Pro1191Leu|4101/4391|3572/3729|1191/1242||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|30/31|c.3407C>T|p.Pro1136Leu|3936/4226|3407/3564|1136/1187||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|30/31|c.3326C>T|p.Pro1109Leu|3851/4141|3326/3483|1109/1160||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|30/31|c.3290C>T|p.Pro1097Leu|3819/4109|3290/3447|1097/1148||,T|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|31/32|c.3479C>T|p.Pro1160Leu|4008/4298|3479/3636|1160/1211|| 22 32014161 . G A . . ANN=A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|32/33|c.3573G>A|p.Pro1191Pro|4102/4391|3573/3729|1191/1242||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|30/31|c.3408G>A|p.Pro1136Pro|3937/4226|3408/3564|1136/1187||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|30/31|c.3327G>A|p.Pro1109Pro|3852/4141|3327/3483|1109/1160||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|30/31|c.3291G>A|p.Pro1097Pro|3820/4109|3291/3447|1097/1148||,A|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|31/32|c.3480G>A|p.Pro1160Pro|4009/4298|3480/3636|1160/1211|| 22 32014245 . G A . . ANN=A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|32/32|c.3624+33G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|30/30|c.3459+33G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|30/30|c.3378+33G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|30/30|c.3342+33G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|31/31|c.3531+33G>A|||||| 22 32014250 . G A . . ANN=A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|32/32|c.3624+38G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|30/30|c.3459+38G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|30/30|c.3378+38G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|30/30|c.3342+38G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|31/31|c.3531+38G>A|||||| 22 32014255 . G A . . ANN=A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|32/32|c.3624+43G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|30/30|c.3459+43G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|30/30|c.3378+43G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|30/30|c.3342+43G>A||||||,A|intron_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|31/31|c.3531+43G>A|||||| 22 32014296 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|32/32|c.3625-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|30/30|c.3460-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|30/30|c.3379-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|30/30|c.3343-4C>T||||||,T|splice_region_variant&intron_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|31/31|c.3532-4C>T|||||| 22 32014359 . C T . . ANN=T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|33/33|c.3684C>T|p.Gly1228Gly|4213/4391|3684/3729|1228/1242||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|31/31|c.3519C>T|p.Gly1173Gly|4048/4226|3519/3564|1173/1187||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|31/31|c.3438C>T|p.Gly1146Gly|3963/4141|3438/3483|1146/1160||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|31/31|c.3402C>T|p.Gly1134Gly|3931/4109|3402/3447|1134/1148||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|32/32|c.3591C>T|p.Gly1197Gly|4120/4298|3591/3636|1197/1211|| 22 32014365 . C T . . ANN=T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001007467.2|Coding|33/33|c.3690C>T|p.Cys1230Cys|4219/4391|3690/3729|1230/1242||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258325.1|Coding|31/31|c.3525C>T|p.Cys1175Cys|4054/4226|3525/3564|1175/1187||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258326.1|Coding|31/31|c.3444C>T|p.Cys1148Cys|3969/4141|3444/3483|1148/1160||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_001258327.1|Coding|31/31|c.3408C>T|p.Cys1136Cys|3937/4109|3408/3447|1136/1148||,T|synonymous_variant|LOW|SFI1|SFI1|transcript|NM_014775.3|Coding|32/32|c.3597C>T|p.Cys1199Cys|4126/4298|3597/3636|1199/1211|| 22 32014366 . G A . . ANN=A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001007467.2|Coding|33/33|c.3691G>A|p.Val1231Ile|4220/4391|3691/3729|1231/1242||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258325.1|Coding|31/31|c.3526G>A|p.Val1176Ile|4055/4226|3526/3564|1176/1187||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258326.1|Coding|31/31|c.3445G>A|p.Val1149Ile|3970/4141|3445/3483|1149/1160||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_001258327.1|Coding|31/31|c.3409G>A|p.Val1137Ile|3938/4109|3409/3447|1137/1148||,A|missense_variant|MODERATE|SFI1|SFI1|transcript|NM_014775.3|Coding|32/32|c.3598G>A|p.Val1200Ile|4127/4298|3598/3636|1200/1211|| 22 32014410 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|33/33|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|31/31|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|31/31|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|31/31|c.*6T>G|||||6|,G|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|32/32|c.*6T>G|||||6| 22 32014411 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001007467.2|Coding|33/33|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258325.1|Coding|31/31|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258326.1|Coding|31/31|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_001258327.1|Coding|31/31|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|SFI1|SFI1|transcript|NM_014775.3|Coding|32/32|c.*7C>T|||||7| 22 32015616 . T C . . ANN=C|synonymous_variant|LOW|PISD|PISD|transcript|NM_014338.3|Coding|9/9|c.1110A>G|p.Glu370Glu|1540/2679|1110/1128|370/375|| 22 32015742 . G A . . ANN=A|synonymous_variant|LOW|PISD|PISD|transcript|NM_014338.3|Coding|9/9|c.984C>T|p.Gly328Gly|1414/2679|984/1128|328/375|| 22 32015765 . C T . . ANN=T|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|9/9|c.961G>A|p.Val321Met|1391/2679|961/1128|321/375|| 22 32015766 . G A . . ANN=A|synonymous_variant|LOW|PISD|PISD|transcript|NM_014338.3|Coding|9/9|c.960C>T|p.Phe320Phe|1390/2679|960/1128|320/375|| 22 32015839 . G T . . ANN=T|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|8/8|c.904-17C>A|||||| 22 32015870 . C T . . ANN=T|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|8/8|c.904-48G>A|||||| 22 32016541 . G A,T . . ANN=A|missense_variant&splice_region_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|8/9|c.901C>T|p.Arg301Trp|1331/2679|901/1128|301/375||,T|splice_region_variant&synonymous_variant|LOW|PISD|PISD|transcript|NM_014338.3|Coding|8/9|c.901C>A|p.Arg301Arg|1331/2679|901/1128|301/375|| 22 32016621 . G A . . ANN=A|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|8/9|c.821C>T|p.Thr274Met|1251/2679|821/1128|274/375|| 22 32016719 . C T . . ANN=T|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|7/8|c.743-20G>A|||||| 22 32016726 . C T . . ANN=T|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|7/8|c.743-27G>A|||||| 22 32016729 . C T . . ANN=T|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|7/8|c.743-30G>A|||||| 22 32016730 . G A . . ANN=A|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|7/8|c.743-31C>T|||||| 22 32016964 . C T . . ANN=T|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|7/8|c.742+18G>A|||||| 22 32016974 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PISD|PISD|transcript|NM_014338.3|Coding|7/8|c.742+8C>T|||||| 22 32016996 . C T . . ANN=T|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|7/9|c.728G>A|p.Arg243Gln|1158/2679|728/1128|243/375|| 22 32017272 . A G . . ANN=G|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|6/8|c.595+48T>C|||||| 22 32017296 . A G . . ANN=G|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|6/8|c.595+24T>C|||||| 22 32017301 . C A,G,T . . ANN=A|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|6/8|c.595+19G>T||||||,G|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|6/8|c.595+19G>C||||||,T|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|6/8|c.595+19G>A|||||| 22 32017587 . G A . . ANN=A|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|5/8|c.456+48C>T|||||| 22 32017608 . C A . . ANN=A|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|5/8|c.456+27G>T|||||| 22 32017615 . A G . . ANN=G|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|5/8|c.456+20T>C|||||| 22 32017637 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|5/9|c.454G>C|p.Val152Leu|884/2679|454/1128|152/375|| 22 32017655 . C T . . ANN=T|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|5/9|c.436G>A|p.Val146Ile|866/2679|436/1128|146/375|| 22 32017659 . C T . . ANN=T|synonymous_variant|LOW|PISD|PISD|transcript|NM_014338.3|Coding|5/9|c.432G>A|p.Arg144Arg|862/2679|432/1128|144/375|| 22 32017716 . C T . . ANN=T|synonymous_variant|LOW|PISD|PISD|transcript|NM_014338.3|Coding|5/9|c.375G>A|p.Leu125Leu|805/2679|375/1128|125/375|| 22 32017778 . C T . . ANN=T|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|5/9|c.313G>A|p.Val105Ile|743/2679|313/1128|105/375|| 22 32019630 . G A . . ANN=A|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|4/8|c.219+40C>T|||||| 22 32019645 . G A . . ANN=A|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|4/8|c.219+25C>T|||||| 22 32019696 . G A . . ANN=A|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|4/9|c.193C>T|p.Arg65Trp|623/2679|193/1128|65/375|| 22 32019741 . C T . . ANN=T|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|4/9|c.148G>A|p.Val50Ile|578/2679|148/1128|50/375|| 22 32019772 . G A . . ANN=A|synonymous_variant|LOW|PISD|PISD|transcript|NM_014338.3|Coding|4/9|c.117C>T|p.Pro39Pro|547/2679|117/1128|39/375|| 22 32019806 . C T . . ANN=T|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|4/9|c.83G>A|p.Arg28Gln|513/2679|83/1128|28/375|| 22 32019824 . G C . . ANN=C|missense_variant|MODERATE|PISD|PISD|transcript|NM_014338.3|Coding|4/9|c.65C>G|p.Pro22Arg|495/2679|65/1128|22/375|| 22 32021729 . C A,T . . ANN=A|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|3/8|c.53+20G>T||||||,T|intron_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|3/8|c.53+20G>A|||||| 22 32021836 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PISD|PISD|transcript|NM_014338.3|Coding|3/9|c.-35G>A|||||35| 22 32084131 . T G . . ANN=G|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|8/8|c.6179+11A>C|||||| 22 32084234 . A G . . ANN=G|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|7/8|c.6108-21T>C|||||| 22 32084246 . TTCTC T,TTC . . ANN=T|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|7/8|c.6108-37_6108-34delGAGA||||||,TTC|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|7/8|c.6108-37_6108-36delGA|||||| 22 32084255 . TC T . . ANN=T|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|7/8|c.6108-43delG|||||| 22 32084256 . C T . . ANN=T|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|7/8|c.6108-43G>A|||||| 22 32097775 . T C . . ANN=C|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|6/8|c.6001-27A>G|||||| 22 32099626 . G A . . ANN=A|synonymous_variant|LOW|PRR14L|PRR14L|transcript|NM_173566.2|Coding|6/9|c.5910C>T|p.Ala1970Ala|6103/10828|5910/6456|1970/2151|| 22 32099737 . G C . . ANN=C|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|5/8|c.5829-30C>G|||||| 22 32100620 . C T . . ANN=T|intron_variant|MODIFIER|PRR14L|PRR14L|transcript|NM_173566.2|Coding|5/8|c.5828+21G>A|||||| 22 32108185 . C T . . ANN=T|synonymous_variant|LOW|PRR14L|PRR14L|transcript|NM_173566.2|Coding|4/9|c.5640G>A|p.Ser1880Ser|5833/10828|5640/6456|1880/2151|| 22 32150866 . C G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|2/43|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|2/40|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|2/22|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|1/42|c.-42C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|1/41|c.-42C>G||||||,G|5_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|2/43|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|2/40|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|2/22|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|1/42|c.-42C>G|||||42|,G|5_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|1/41|c.-42C>G|||||42|,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|2/39|n.161C>G|||||| 22 32150997 . A T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|2/42|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|2/39|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|2/21|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|2/38|n.260+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|1/41|c.58+32A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|1/40|c.58+32A>T|||||| 22 32154482 . G C . . ANN=C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|2/42|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|2/39|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|2/21|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|2/38|n.261-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|1/41|c.59-50G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|1/40|c.59-50G>C|||||| 22 32154502 . T C . . ANN=C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|2/42|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|2/39|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|2/21|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|2/38|n.261-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|1/41|c.59-30T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|1/40|c.59-30T>C|||||| 22 32156608 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|3/42|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|3/39|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|3/21|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|3/38|n.349-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|2/41|c.147-34G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|2/40|c.147-34G>A|||||| 22 32156625 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|3/42|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|3/39|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|3/21|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|3/38|n.349-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|2/41|c.147-17G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|2/40|c.147-17G>A|||||| 22 32161019 . T C . . ANN=C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|5/43|c.252T>C|p.Asp84Asp|454/5551|252/4812|84/1603||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|5/40|c.252T>C|p.Asp84Asp|358/5155|252/4512|84/1503||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|5/22|c.252T>C|p.Asp84Asp|454/2444|252/1680|84/559||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|4/42|c.252T>C|p.Asp84Asp|312/5382|252/4785|84/1594||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|4/41|c.252T>C|p.Asp84Asp|312/5316|252/4719|84/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|5/39|n.454T>C|||||| 22 32161029 . A G . . ANN=G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|5/43|c.262A>G|p.Asn88Asp|464/5551|262/4812|88/1603||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|5/40|c.262A>G|p.Asn88Asp|368/5155|262/4512|88/1503||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|5/22|c.262A>G|p.Asn88Asp|464/2444|262/1680|88/559||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|4/42|c.262A>G|p.Asn88Asp|322/5382|262/4785|88/1594||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|4/41|c.262A>G|p.Asn88Asp|322/5316|262/4719|88/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|5/39|n.464A>G|||||| 22 32161092 . C T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|5/42|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|5/39|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|5/21|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|5/38|n.481+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|4/41|c.279+46C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|4/40|c.279+46C>T|||||| 22 32164790 . C T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|6/42|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|6/39|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|6/21|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|6/38|n.566-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|5/41|c.364-10C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|5/40|c.364-10C>T|||||| 22 32164832 . G C . . ANN=C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|7/43|c.396G>C|p.Val132Val|598/5551|396/4812|132/1603||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|7/40|c.396G>C|p.Val132Val|502/5155|396/4512|132/1503||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|7/22|c.396G>C|p.Val132Val|598/2444|396/1680|132/559||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|6/42|c.396G>C|p.Val132Val|456/5382|396/4785|132/1594||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|6/41|c.396G>C|p.Val132Val|456/5316|396/4719|132/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|7/39|n.598G>C|||||| 22 32164876 . T C . . ANN=C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|7/42|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|7/39|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|7/21|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|7/38|n.615+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|6/41|c.413+27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|6/40|c.413+27T>C|||||| 22 32174058 . T C . . ANN=C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|7/42|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|7/39|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|7/21|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|7/38|n.616-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|6/41|c.414-27T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|6/40|c.414-27T>C|||||| 22 32174198 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|8/42|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|8/39|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|8/21|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|8/38|n.685+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|7/41|c.483+44A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|7/40|c.483+44A>G|||||| 22 32179850 . G C . . ANN=C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|8/42|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|8/39|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|8/21|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|8/38|n.686-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|7/41|c.484-43G>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|7/40|c.484-43G>C|||||| 22 32179863 . C G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|8/42|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|8/39|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|8/21|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|8/38|n.686-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|7/41|c.484-30C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|7/40|c.484-30C>G|||||| 22 32179926 . A C . . ANN=C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|9/43|c.517A>C|p.Ile173Leu|719/5551|517/4812|173/1603||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|9/40|c.517A>C|p.Ile173Leu|623/5155|517/4512|173/1503||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|9/22|c.517A>C|p.Ile173Leu|719/2444|517/1680|173/559||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|8/42|c.517A>C|p.Ile173Leu|577/5382|517/4785|173/1594||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|8/41|c.517A>C|p.Ile173Leu|577/5316|517/4719|173/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|9/39|n.719A>C|||||| 22 32188774 . C G . . ANN=G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|12/43|c.738C>G|p.His246Gln|940/5551|738/4812|246/1603||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|12/40|c.738C>G|p.His246Gln|844/5155|738/4512|246/1503||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|12/22|c.738C>G|p.His246Gln|940/2444|738/1680|246/559||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|11/42|c.738C>G|p.His246Gln|798/5382|738/4785|246/1594||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|11/41|c.738C>G|p.His246Gln|798/5316|738/4719|246/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|12/39|n.940C>G|||||| 22 32188784 . T G . . ANN=G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|12/43|c.748T>G|p.Phe250Val|950/5551|748/4812|250/1603||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|12/40|c.748T>G|p.Phe250Val|854/5155|748/4512|250/1503||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|12/22|c.748T>G|p.Phe250Val|950/2444|748/1680|250/559||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|11/42|c.748T>G|p.Phe250Val|808/5382|748/4785|250/1594||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|11/41|c.748T>G|p.Phe250Val|808/5316|748/4719|250/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|12/39|n.950T>G|||||| 22 32193631 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|13/43|c.813C>T|p.Leu271Leu|1015/5551|813/4812|271/1603||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|13/40|c.813C>T|p.Leu271Leu|919/5155|813/4512|271/1503||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|13/22|c.813C>T|p.Leu271Leu|1015/2444|813/1680|271/559||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|12/42|c.813C>T|p.Leu271Leu|873/5382|813/4785|271/1594||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|12/41|c.813C>T|p.Leu271Leu|873/5316|813/4719|271/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|13/39|n.1015C>T|||||| 22 32193715 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|13/42|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|13/39|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|13/21|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|13/38|n.1073+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|12/41|c.871+26G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|12/40|c.871+26G>A|||||| 22 32193717 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|13/42|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|13/39|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|13/21|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|13/38|n.1073+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|12/41|c.871+28G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|12/40|c.871+28G>A|||||| 22 32194530 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|13/42|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|13/39|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|13/21|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|13/38|n.1074-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|12/41|c.872-38A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|12/40|c.872-38A>G|||||| 22 32194531 . T C . . ANN=C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|13/42|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|13/39|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|13/21|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|13/38|n.1074-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|12/41|c.872-37T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|12/40|c.872-37T>C|||||| 22 32194581 . A G . . ANN=G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|14/43|c.885A>G|p.Gln295Gln|1087/5551|885/4812|295/1603||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|14/40|c.885A>G|p.Gln295Gln|991/5155|885/4512|295/1503||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|14/22|c.885A>G|p.Gln295Gln|1087/2444|885/1680|295/559||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|13/42|c.885A>G|p.Gln295Gln|945/5382|885/4785|295/1594||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|13/41|c.885A>G|p.Gln295Gln|945/5316|885/4719|295/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|14/39|n.1087A>G|||||| 22 32194666 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|14/42|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|14/39|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|14/21|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|14/38|n.1148+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|13/41|c.946+24G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|13/40|c.946+24G>A|||||| 22 32194692 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|14/42|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|14/39|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|14/21|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|14/38|n.1148+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|13/41|c.946+50A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|13/40|c.946+50A>G|||||| 22 32198857 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|15/42|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|15/39|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|15/21|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|15/38|n.1283+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|14/41|c.1081+33A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|14/40|c.1081+33A>G|||||| 22 32198862 . C T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|15/42|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|15/39|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|15/21|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|15/38|n.1283+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|14/41|c.1081+38C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|14/40|c.1081+38C>T|||||| 22 32198868 . C A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|15/42|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|15/39|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|15/21|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|15/38|n.1283+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|14/41|c.1081+44C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|14/40|c.1081+44C>A|||||| 22 32200112 . C G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|15/42|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|15/39|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|15/21|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|15/38|n.1284-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|14/41|c.1082-36C>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|14/40|c.1082-36C>G|||||| 22 32200161 . T C . . ANN=C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|16/43|c.1095T>C|p.Asp365Asp|1297/5551|1095/4812|365/1603||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|16/40|c.1095T>C|p.Asp365Asp|1201/5155|1095/4512|365/1503||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|16/22|c.1095T>C|p.Asp365Asp|1297/2444|1095/1680|365/559||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|15/42|c.1095T>C|p.Asp365Asp|1155/5382|1095/4785|365/1594||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|15/41|c.1095T>C|p.Asp365Asp|1155/5316|1095/4719|365/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|16/39|n.1297T>C|||||| 22 32200849 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|17/43|c.1165C>T|p.Arg389Cys|1367/5551|1165/4812|389/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|17/40|c.1165C>T|p.Arg389Cys|1271/5155|1165/4512|389/1503||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|17/22|c.1165C>T|p.Arg389Cys|1367/2444|1165/1680|389/559||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|16/42|c.1165C>T|p.Arg389Cys|1225/5382|1165/4785|389/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|16/41|c.1165C>T|p.Arg389Cys|1225/5316|1165/4719|389/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|17/39|n.1367C>T|||||| 22 32202089 . CTGTT C . . ANN=C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|17/42|c.1218-18_1218-15delTGTT||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|17/39|c.1218-18_1218-15delTGTT||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|17/21|c.1218-18_1218-15delTGTT||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|17/38|n.1420-18_1420-15delTGTT||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|16/41|c.1218-18_1218-15delTGTT||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|16/40|c.1218-18_1218-15delTGTT|||||| 22 32205559 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|18/42|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|18/39|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|18/21|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|18/38|n.1490-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|17/41|c.1288-38G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|17/40|c.1288-38G>A|||||| 22 32205630 . A G . . ANN=G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|19/43|c.1321A>G|p.Thr441Ala|1523/5551|1321/4812|441/1603||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|19/40|c.1321A>G|p.Thr441Ala|1427/5155|1321/4512|441/1503||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|19/22|c.1321A>G|p.Thr441Ala|1523/2444|1321/1680|441/559||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|18/42|c.1321A>G|p.Thr441Ala|1381/5382|1321/4785|441/1594||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|18/41|c.1321A>G|p.Thr441Ala|1381/5316|1321/4719|441/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|19/39|n.1523A>G|||||| 22 32205632 . A C . . ANN=C|splice_region_variant&synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|19/43|c.1323A>C|p.Thr441Thr|1525/5551|1323/4812|441/1603||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|19/40|c.1323A>C|p.Thr441Thr|1429/5155|1323/4512|441/1503||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|19/22|c.1323A>C|p.Thr441Thr|1525/2444|1323/1680|441/559||,C|splice_region_variant&non_coding_exon_variant|LOW|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|19/39|n.1525A>C||||||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|18/42|c.1323A>C|p.Thr441Thr|1383/5382|1323/4785|441/1594||,C|splice_region_variant&synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|18/41|c.1323A>C|p.Thr441Thr|1383/5316|1323/4719|441/1572|| 22 32206512 . G A . . ANN=A|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|20/43|c.1330G>A|p.Gly444Arg|1532/5551|1330/4812|444/1603||,A|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|20/40|c.1330G>A|p.Gly444Arg|1436/5155|1330/4512|444/1503||,A|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|20/22|c.1330G>A|p.Gly444Arg|1532/2444|1330/1680|444/559||,A|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|19/42|c.1330G>A|p.Gly444Arg|1390/5382|1330/4785|444/1594||,A|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|19/41|c.1330G>A|p.Gly444Arg|1390/5316|1330/4719|444/1572||,A|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|20/39|n.1532G>A|||||| 22 32211004 . G C . . ANN=C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|21/43|c.1472G>C|p.Ser491Thr|1674/5551|1472/4812|491/1603||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|21/40|c.1472G>C|p.Ser491Thr|1578/5155|1472/4512|491/1503||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|21/22|c.1472G>C|p.Ser491Thr|1674/2444|1472/1680|491/559||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|20/42|c.1472G>C|p.Ser491Thr|1532/5382|1472/4785|491/1594||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|20/41|c.1472G>C|p.Ser491Thr|1532/5316|1472/4719|491/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|21/39|n.1674G>C|||||| 22 32211098 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|21/43|c.1566C>T|p.Asp522Asp|1768/5551|1566/4812|522/1603||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|21/40|c.1566C>T|p.Asp522Asp|1672/5155|1566/4512|522/1503||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001007188.2|Coding|21/22|c.1566C>T|p.Asp522Asp|1768/2444|1566/1680|522/559||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|20/42|c.1566C>T|p.Asp522Asp|1626/5382|1566/4785|522/1594||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|20/41|c.1566C>T|p.Asp522Asp|1626/5316|1566/4719|522/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|21/39|n.1768C>T|||||| 22 32217457 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|22/42|c.1871-31A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|22/39|c.1870+2246A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|22/38|n.2072+2246A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|21/41|c.1871-31A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|21/40|c.1871-31A>G|||||| 22 32217539 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|23/43|c.1922C>T|p.Ala641Val|2124/5551|1922/4812|641/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|22/42|c.1922C>T|p.Ala641Val|1982/5382|1922/4785|641/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|22/41|c.1922C>T|p.Ala641Val|1982/5316|1922/4719|641/1572||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|22/39|c.1870+2328C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|22/38|n.2072+2328C>T|||||| 22 32217608 . A G . . ANN=G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|23/43|c.1991A>G|p.His664Arg|2193/5551|1991/4812|664/1603||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|22/42|c.1991A>G|p.His664Arg|2051/5382|1991/4785|664/1594||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|22/41|c.1991A>G|p.His664Arg|2051/5316|1991/4719|664/1572||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|22/39|c.1870+2397A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|22/38|n.2072+2397A>G|||||| 22 32217655 . C T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|23/42|c.2006+32C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|22/39|c.1870+2444C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|22/38|n.2072+2444C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|22/41|c.2006+32C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|22/40|c.2006+32C>T|||||| 22 32218692 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|24/43|c.2020C>T|p.Arg674Cys|2222/5551|2020/4812|674/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|23/42|c.2020C>T|p.Arg674Cys|2080/5382|2020/4785|674/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|23/41|c.2020C>T|p.Arg674Cys|2080/5316|2020/4719|674/1572||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|22/39|c.1870+3481C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|22/38|n.2072+3481C>T|||||| 22 32218727 . C A . . ANN=A|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|24/43|c.2055C>A|p.Phe685Leu|2257/5551|2055/4812|685/1603||,A|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|23/42|c.2055C>A|p.Phe685Leu|2115/5382|2055/4785|685/1594||,A|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|23/41|c.2055C>A|p.Phe685Leu|2115/5316|2055/4719|685/1572||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|22/39|c.1870+3516C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|22/38|n.2072+3516C>A|||||| 22 32218744 . T C . . ANN=C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|24/43|c.2072T>C|p.Leu691Pro|2274/5551|2072/4812|691/1603||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|23/42|c.2072T>C|p.Leu691Pro|2132/5382|2072/4785|691/1594||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|23/41|c.2072T>C|p.Leu691Pro|2132/5316|2072/4719|691/1572||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|22/39|c.1870+3533T>C||||||,C|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|22/38|n.2072+3533T>C|||||| 22 32218747 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|24/43|c.2075C>T|p.Ser692Phe|2277/5551|2075/4812|692/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|23/42|c.2075C>T|p.Ser692Phe|2135/5382|2075/4785|692/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|23/41|c.2075C>T|p.Ser692Phe|2135/5316|2075/4719|692/1572||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|22/39|c.1870+3536C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|22/38|n.2072+3536C>T|||||| 22 32229931 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|25/43|c.2135C>T|p.Ser712Phe|2337/5551|2135/4812|712/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|23/40|c.1901C>T|p.Ser634Phe|2007/5155|1901/4512|634/1503||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|24/42|c.2135C>T|p.Ser712Phe|2195/5382|2135/4785|712/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|24/41|c.2135C>T|p.Ser712Phe|2195/5316|2135/4719|712/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|23/39|n.2103C>T|||||| 22 32229935 . A G . . ANN=G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|25/43|c.2139A>G|p.Leu713Leu|2341/5551|2139/4812|713/1603||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|23/40|c.1905A>G|p.Leu635Leu|2011/5155|1905/4512|635/1503||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|24/42|c.2139A>G|p.Leu713Leu|2199/5382|2139/4785|713/1594||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|24/41|c.2139A>G|p.Leu713Leu|2199/5316|2139/4719|713/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|23/39|n.2107A>G|||||| 22 32229977 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|25/42|c.2170+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|23/39|c.1936+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|23/38|n.2138+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|24/41|c.2170+11G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|24/40|c.2170+11G>A|||||| 22 32232941 . C T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|25/42|c.2171-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|23/39|c.1937-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|23/38|n.2139-17C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|24/41|c.2171-44C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|24/40|c.2171-44C>T|||||| 22 32232979 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|26/43|c.2192C>T|p.Pro731Leu|2394/5551|2192/4812|731/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|24/40|c.1958C>T|p.Pro653Leu|2064/5155|1958/4512|653/1503||,T|splice_region_variant&intron_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|24/41|c.2171-6C>T||||||,T|splice_region_variant&intron_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|24/40|c.2171-6C>T||||||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|24/39|n.2160C>T|||||| 22 32233028 . C G . . ANN=G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|26/43|c.2241C>G|p.Leu747Leu|2443/5551|2241/4812|747/1603||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|24/40|c.2007C>G|p.Leu669Leu|2113/5155|2007/4512|669/1503||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|25/42|c.2214C>G|p.Leu738Leu|2274/5382|2214/4785|738/1594||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|25/41|c.2214C>G|p.Leu738Leu|2274/5316|2214/4719|738/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|24/39|n.2209C>G|||||| 22 32233073 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|26/43|c.2286C>T|p.Asp762Asp|2488/5551|2286/4812|762/1603||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|24/40|c.2052C>T|p.Asp684Asp|2158/5155|2052/4512|684/1503||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|25/42|c.2259C>T|p.Asp753Asp|2319/5382|2259/4785|753/1594||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|25/41|c.2259C>T|p.Asp753Asp|2319/5316|2259/4719|753/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|24/39|n.2254C>T|||||| 22 32233189 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|26/42|c.2354+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|24/39|c.2120+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|24/38|n.2322+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|25/41|c.2327+48G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|25/40|c.2327+48G>A|||||| 22 32234728 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|27/43|c.2412C>T|p.Cys804Cys|2614/5551|2412/4812|804/1603||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|25/40|c.2178C>T|p.Cys726Cys|2284/5155|2178/4512|726/1503||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|26/42|c.2385C>T|p.Cys795Cys|2445/5382|2385/4785|795/1594||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|26/41|c.2385C>T|p.Cys795Cys|2445/5316|2385/4719|795/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|25/39|n.2380C>T|||||| 22 32234797 . G A . . ANN=A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|27/43|c.2481G>A|p.Pro827Pro|2683/5551|2481/4812|827/1603||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|25/40|c.2247G>A|p.Pro749Pro|2353/5155|2247/4512|749/1503||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|26/42|c.2454G>A|p.Pro818Pro|2514/5382|2454/4785|818/1594||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|26/41|c.2454G>A|p.Pro818Pro|2514/5316|2454/4719|818/1572||,A|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|25/39|n.2449G>A|||||| 22 32234798 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|27/43|c.2482C>T|p.Pro828Ser|2684/5551|2482/4812|828/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|25/40|c.2248C>T|p.Pro750Ser|2354/5155|2248/4512|750/1503||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|26/42|c.2455C>T|p.Pro819Ser|2515/5382|2455/4785|819/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|26/41|c.2455C>T|p.Pro819Ser|2515/5316|2455/4719|819/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|25/39|n.2450C>T|||||| 22 32239103 . T G . . ANN=G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|28/43|c.2538T>G|p.Pro846Pro|2740/5551|2538/4812|846/1603||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|26/40|c.2304T>G|p.Pro768Pro|2410/5155|2304/4512|768/1503||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|27/42|c.2511T>G|p.Pro837Pro|2571/5382|2511/4785|837/1594||,G|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|27/41|c.2511T>G|p.Pro837Pro|2571/5316|2511/4719|837/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|26/39|n.2506T>G|||||| 22 32239669 . G C . . ANN=C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|29/43|c.2672G>C|p.Ser891Thr|2874/5551|2672/4812|891/1603||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|27/40|c.2438G>C|p.Ser813Thr|2544/5155|2438/4512|813/1503||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|28/42|c.2645G>C|p.Ser882Thr|2705/5382|2645/4785|882/1594||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|28/41|c.2645G>C|p.Ser882Thr|2705/5316|2645/4719|882/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|27/39|n.2640G>C|||||| 22 32239739 . G A . . ANN=A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|29/43|c.2742G>A|p.Glu914Glu|2944/5551|2742/4812|914/1603||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|27/40|c.2508G>A|p.Glu836Glu|2614/5155|2508/4512|836/1503||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|28/42|c.2715G>A|p.Glu905Glu|2775/5382|2715/4785|905/1594||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|28/41|c.2715G>A|p.Glu905Glu|2775/5316|2715/4719|905/1572||,A|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|27/39|n.2710G>A|||||| 22 32240955 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|29/42|c.2802-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|27/39|c.2568-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|27/38|n.2770-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|28/41|c.2775-49A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|28/40|c.2775-49A>G|||||| 22 32241046 . G C . . ANN=C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|30/43|c.2844G>C|p.Leu948Leu|3046/5551|2844/4812|948/1603||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|28/40|c.2610G>C|p.Leu870Leu|2716/5155|2610/4512|870/1503||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|29/42|c.2817G>C|p.Leu939Leu|2877/5382|2817/4785|939/1594||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|29/41|c.2817G>C|p.Leu939Leu|2877/5316|2817/4719|939/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|28/39|n.2812G>C|||||| 22 32241058 . T C . . ANN=C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|30/43|c.2856T>C|p.Cys952Cys|3058/5551|2856/4812|952/1603||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|28/40|c.2622T>C|p.Cys874Cys|2728/5155|2622/4512|874/1503||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|29/42|c.2829T>C|p.Cys943Cys|2889/5382|2829/4785|943/1594||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|29/41|c.2829T>C|p.Cys943Cys|2889/5316|2829/4719|943/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|28/39|n.2824T>C|||||| 22 32241252 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|30/42|c.3021+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|28/39|c.2787+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|28/38|n.2989+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|29/41|c.2994+29G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|29/40|c.2994+29G>A|||||| 22 32242806 . C T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|30/42|c.3022-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|28/39|c.2788-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|28/38|n.2990-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|29/41|c.2995-14C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|29/40|c.2995-14C>T|||||| 22 32242867 . G A . . ANN=A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|31/43|c.3069G>A|p.Thr1023Thr|3271/5551|3069/4812|1023/1603||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|29/40|c.2835G>A|p.Thr945Thr|2941/5155|2835/4512|945/1503||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|30/42|c.3042G>A|p.Thr1014Thr|3102/5382|3042/4785|1014/1594||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|30/41|c.3042G>A|p.Thr1014Thr|3102/5316|3042/4719|1014/1572||,A|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|29/39|n.3037G>A|||||| 22 32253516 . A C . . ANN=C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|32/43|c.3241A>C|p.Thr1081Pro|3443/5551|3241/4812|1081/1603||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|30/40|c.3007A>C|p.Thr1003Pro|3113/5155|3007/4512|1003/1503||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|31/42|c.3214A>C|p.Thr1072Pro|3274/5382|3214/4785|1072/1594||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|31/41|c.3214A>C|p.Thr1072Pro|3274/5316|3214/4719|1072/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|30/39|n.3209A>C|||||| 22 32266546 . A T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|33/42|c.3331-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|30/39|c.3031-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|30/38|n.3233-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|32/41|c.3304-30A>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|31/40|c.3238-30A>T|||||| 22 32266603 . A G . . ANN=G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|34/43|c.3358A>G|p.Met1120Val|3560/5551|3358/4812|1120/1603||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|31/40|c.3058A>G|p.Met1020Val|3164/5155|3058/4512|1020/1503||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|33/42|c.3331A>G|p.Met1111Val|3391/5382|3331/4785|1111/1594||,G|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|32/41|c.3265A>G|p.Met1089Val|3325/5316|3265/4719|1089/1572||,G|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|31/39|n.3260A>G|||||| 22 32270221 . C A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|35/42|c.3564-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|32/39|c.3264-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|32/38|n.3466-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|34/41|c.3537-38C>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|33/40|c.3471-38C>A|||||| 22 32270378 . T C . . ANN=C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|36/43|c.3683T>C|p.Ile1228Thr|3885/5551|3683/4812|1228/1603||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|33/40|c.3383T>C|p.Ile1128Thr|3489/5155|3383/4512|1128/1503||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|35/42|c.3656T>C|p.Ile1219Thr|3716/5382|3656/4785|1219/1594||,C|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|34/41|c.3590T>C|p.Ile1197Thr|3650/5316|3590/4719|1197/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|33/39|n.3585T>C|||||| 22 32270409 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|36/42|c.3696+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|33/39|c.3396+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|33/38|n.3598+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|35/41|c.3669+18G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|34/40|c.3603+18G>A|||||| 22 32272130 . A G . . ANN=G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|36/42|c.3697-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|33/39|c.3397-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|33/38|n.3598+1739A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|35/41|c.3670-13A>G||||||,G|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|34/40|c.3604-13A>G|||||| 22 32272191 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|37/43|c.3745C>T|p.Arg1249Trp|3947/5551|3745/4812|1249/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|34/40|c.3445C>T|p.Arg1149Trp|3551/5155|3445/4512|1149/1503||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|36/42|c.3718C>T|p.Arg1240Trp|3778/5382|3718/4785|1240/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|35/41|c.3652C>T|p.Arg1218Trp|3712/5316|3652/4719|1218/1572||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|33/38|n.3598+1800C>T|||||| 22 32272261 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|37/42|c.3805+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|34/39|c.3505+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|33/38|n.3598+1870G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|36/41|c.3778+10G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|35/40|c.3712+10G>A|||||| 22 32272266 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|37/42|c.3805+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|34/39|c.3505+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|33/38|n.3598+1875G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|36/41|c.3778+15G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|35/40|c.3712+15G>A|||||| 22 32275515 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|38/43|c.3810C>T|p.Ala1270Ala|4012/5551|3810/4812|1270/1603||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|35/40|c.3510C>T|p.Ala1170Ala|3616/5155|3510/4512|1170/1503||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|37/42|c.3783C>T|p.Ala1261Ala|3843/5382|3783/4785|1261/1594||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|36/41|c.3717C>T|p.Ala1239Ala|3777/5316|3717/4719|1239/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|34/39|n.3603C>T|||||| 22 32275576 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|38/43|c.3871C>T|p.Arg1291Cys|4073/5551|3871/4812|1291/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|35/40|c.3571C>T|p.Arg1191Cys|3677/5155|3571/4512|1191/1503||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|37/42|c.3844C>T|p.Arg1282Cys|3904/5382|3844/4785|1282/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|36/41|c.3778C>T|p.Arg1260Cys|3838/5316|3778/4719|1260/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|34/39|n.3664C>T|||||| 22 32289659 . T C . . ANN=C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|39/43|c.4125T>C|p.His1375His|4327/5551|4125/4812|1375/1603||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|36/40|c.3825T>C|p.His1275His|3931/5155|3825/4512|1275/1503||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|38/42|c.4098T>C|p.His1366His|4158/5382|4098/4785|1366/1594||,C|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|37/41|c.4032T>C|p.His1344His|4092/5316|4032/4719|1344/1572||,C|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|35/39|n.3918T>C|||||| 22 32289784 . T A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|39/42|c.4203+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|36/39|c.3903+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|35/38|n.3996+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|38/41|c.4176+47T>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|37/40|c.4110+47T>A|||||| 22 32297691 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|40/42|c.4376-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|37/39|c.4076-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|36/38|n.4169-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|39/41|c.4349-37G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|38/40|c.4283-37G>A|||||| 22 32297743 . C T . . ANN=T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|41/43|c.4391C>T|p.Thr1464Met|4593/5551|4391/4812|1464/1603||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|38/40|c.4091C>T|p.Thr1364Met|4197/5155|4091/4512|1364/1503||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|40/42|c.4364C>T|p.Thr1455Met|4424/5382|4364/4785|1455/1594||,T|missense_variant|MODERATE|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|39/41|c.4298C>T|p.Thr1433Met|4358/5316|4298/4719|1433/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|37/39|n.4184C>T|||||| 22 32297765 . C A . . ANN=A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|41/43|c.4413C>A|p.Leu1471Leu|4615/5551|4413/4812|1471/1603||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|38/40|c.4113C>A|p.Leu1371Leu|4219/5155|4113/4512|1371/1503||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|40/42|c.4386C>A|p.Leu1462Leu|4446/5382|4386/4785|1462/1594||,A|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|39/41|c.4320C>A|p.Leu1440Leu|4380/5316|4320/4719|1440/1572||,A|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|37/39|n.4206C>A|||||| 22 32302045 . C T . . ANN=T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|42/43|c.4512C>T|p.His1504His|4714/5551|4512/4812|1504/1603||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|39/40|c.4212C>T|p.His1404His|4318/5155|4212/4512|1404/1503||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|41/42|c.4485C>T|p.His1495His|4545/5382|4485/4785|1495/1594||,T|synonymous_variant|LOW|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|40/41|c.4419C>T|p.His1473His|4479/5316|4419/4719|1473/1572||,T|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|38/39|n.4305C>T|||||| 22 32302065 . G A . . ANN=A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|42/42|c.4519+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|39/39|c.4219+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|38/38|n.4312+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|41/41|c.4492+13G>A||||||,A|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|40/40|c.4426+13G>A|||||| 22 32302094 . C T . . ANN=T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|42/42|c.4519+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|39/39|c.4219+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|38/38|n.4312+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|41/41|c.4492+42C>T||||||,T|intron_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|40/40|c.4426+42C>T|||||| 22 32302487 . C CAGGCTGCACCAGGGTTAGA . . ANN=AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|43/43|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|40/40|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|42/42|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|3_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|41/41|c.*14_*15insAGGGTTAGAAGGCTGCACC|||||15|INFO_REALIGN_3_PRIME,AGGGTTAGAAGGCTGCACC|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|39/39|n.4619_4620insAGGGTTAGAAGGCTGCACC||||||INFO_REALIGN_3_PRIME 22 32302512 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242896.1|Coding|43/43|c.*29G>A|||||29|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001242897.1|Coding|40/40|c.*29G>A|||||29|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_001136029.2|Coding|42/42|c.*29G>A|||||29|,A|3_prime_UTR_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NM_014662.4|Coding|41/41|c.*29G>A|||||29|,A|non_coding_exon_variant|MODIFIER|DEPDC5|DEPDC5|transcript|NR_110988.1|Noncoding|39/39|n.4634G>A|||||| 22 32330089 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|C22orf24|C22orf24|transcript|NM_015372.1|Coding|3/3|c.*15G>A|||||15| 22 32333967 . T G . . ANN=G|missense_variant|MODERATE|C22orf24|C22orf24|transcript|NM_015372.1|Coding|2/3|c.86A>C|p.Asn29Thr|253/1247|86/483|29/160|| 22 32333988 . G C . . ANN=C|missense_variant|MODERATE|C22orf24|C22orf24|transcript|NM_015372.1|Coding|2/3|c.65C>G|p.Pro22Arg|232/1247|65/483|22/160|| 22 32334021 . T A . . ANN=A|missense_variant|MODERATE|C22orf24|C22orf24|transcript|NM_015372.1|Coding|2/3|c.32A>T|p.His11Leu|199/1247|32/483|11/160|| 22 32334058 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|C22orf24|C22orf24|transcript|NM_015372.1|Coding|2/3|c.-6A>G|||||6| 22 32334059 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|C22orf24|C22orf24|transcript|NM_015372.1|Coding|2/3|c.-7C>T|||||7| 22 32340837 . CG C . . ANN=C|intron_variant|MODIFIER|C22orf24|C22orf24|transcript|NM_015372.1|Coding|1/2|c.-50+381delC||||||,C|intron_variant|MODIFIER|YWHAH|YWHAH|transcript|NM_003405.3|Coding|1/1|c.87+32delG|||||| 22 32352215 . C G . . ANN=G|synonymous_variant|LOW|YWHAH|YWHAH|transcript|NM_003405.3|Coding|2/2|c.177C>G|p.Ser59Ser|418/1793|177/741|59/246|| 22 32352698 . G A . . ANN=A|synonymous_variant|LOW|YWHAH|YWHAH|transcript|NM_003405.3|Coding|2/2|c.660G>A|p.Thr220Thr|901/1793|660/741|220/246|| 22 32352791 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|YWHAH|YWHAH|transcript|NM_003405.3|Coding|2/2|c.*12G>A|||||12| 22 32439256 . C CA . . ANN=A|5_prime_UTR_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|1/15|c.-11dupA|||||10|INFO_REALIGN_3_PRIME 22 32439269 . A G . . ANN=G|start_lost|HIGH|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|1/15|c.1A>G|p.Met1?|251/5056|1/1995|1/664||;LOF=(SLC5A1|SLC5A1|2|0.50) 22 32439274 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|1/15|c.6C>T|p.Asp2Asp|256/5056|6/1995|2/664|| 22 32439303 . C T . . ANN=T|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|1/15|c.35C>T|p.Ala12Val|285/5056|35/1995|12/664|| 22 32439318 . T C . . ANN=C|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|1/15|c.50T>C|p.Val17Ala|300/5056|50/1995|17/664|| 22 32439365 . G A . . ANN=A|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|1/15|c.97G>A|p.Val33Ile|347/5056|97/1995|33/664|| 22 32445893 . T C . . ANN=C|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|1/14|c.136-37T>C|||||| 22 32445900 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|1/14|c.136-30C>T|||||| 22 32445946 . A G . . ANN=G|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|2/15|c.152A>G|p.Asn51Ser|402/5056|152/1995|51/664|| 22 32462909 . T A . . ANN=A|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|2/14|c.208-13T>A||||||,A|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|1/13|c.-174-13T>A|||||| 22 32462914 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|2/14|c.208-8G>A||||||,A|splice_region_variant&intron_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|1/13|c.-174-8G>A|||||| 22 32463051 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|3/14|c.312+25C>T||||||,T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|2/13|c.-70+25C>T|||||| 22 32464041 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|4/14|c.372+28C>T||||||,T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|3/13|c.-10+28C>T|||||| 22 32464460 . G C . . ANN=C|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|4/14|c.373-23G>C||||||,C|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|3/13|c.-9-23G>C|||||| 22 32477867 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|6/15|c.492G>A|p.Ser164Ser|742/5056|492/1995|164/664||,A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|5/14|c.111G>A|p.Ser37Ser|460/4774|111/1614|37/537|| 22 32479101 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|7/15|c.624G>A|p.Thr208Thr|874/5056|624/1995|208/664||,A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|6/14|c.243G>A|p.Thr81Thr|592/4774|243/1614|81/537|| 22 32479102 . G T . . ANN=T|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|7/15|c.625G>T|p.Val209Leu|875/5056|625/1995|209/664||,T|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|6/14|c.244G>T|p.Val82Leu|593/4774|244/1614|82/537|| 22 32480376 . T C . . ANN=C|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|7/14|c.665-50T>C||||||,C|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|6/13|c.284-50T>C|||||| 22 32480379 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|7/14|c.665-47C>T||||||,T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|6/13|c.284-47C>T|||||| 22 32480505 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|8/15|c.744C>T|p.Asn248Asn|994/5056|744/1995|248/664||,T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|7/14|c.363C>T|p.Asn121Asn|712/4774|363/1614|121/537|| 22 32480521 . A G . . ANN=G|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|8/15|c.760A>G|p.Lys254Glu|1010/5056|760/1995|254/664||,G|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|7/14|c.379A>G|p.Lys127Glu|728/4774|379/1614|127/537|| 22 32480574 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|8/15|c.813G>A|p.Thr271Thr|1063/5056|813/1995|271/664||,A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|7/14|c.432G>A|p.Thr144Thr|781/4774|432/1614|144/537|| 22 32480623 . T G . . ANN=G|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|8/15|c.862T>G|p.Leu288Val|1112/5056|862/1995|288/664||,G|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|7/14|c.481T>G|p.Leu161Val|830/4774|481/1614|161/537|| 22 32482200 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|9/14|c.1022-7T>C||||||,C|splice_region_variant&intron_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|8/13|c.641-7T>C|||||| 22 32482251 . G A . . ANN=A|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|10/15|c.1066G>A|p.Gly356Ser|1316/5056|1066/1995|356/664||,A|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|9/14|c.685G>A|p.Gly229Ser|1034/4774|685/1614|229/537|| 22 32482277 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|10/15|c.1092C>T|p.Ile364Ile|1342/5056|1092/1995|364/664||,T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|9/14|c.711C>T|p.Ile237Ile|1060/4774|711/1614|237/537|| 22 32482310 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|10/15|c.1125C>T|p.Pro375Pro|1375/5056|1125/1995|375/664||,T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|9/14|c.744C>T|p.Pro248Pro|1093/4774|744/1614|248/537|| 22 32482321 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|10/14|c.1129+7T>G||||||,G|splice_region_variant&intron_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|9/13|c.748+7T>G|||||| 22 32487555 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|10/14|c.1130-44C>T||||||,T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|9/13|c.749-44C>T|||||| 22 32487575 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|10/14|c.1130-24C>T||||||,T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|9/13|c.749-24C>T|||||| 22 32487590 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|10/14|c.1130-9C>T||||||,T|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|9/13|c.749-9C>T|||||| 22 32487639 . CATG C . . ANN=|disruptive_inframe_deletion|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|11/15|c.1172_1174delTGA|p.Met391del|1422/5056|1172/1995|391/664||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|10/14|c.791_793delTGA|p.Met264del|1140/4774|791/1614|264/537||INFO_REALIGN_3_PRIME 22 32487651 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|11/15|c.1182G>A|p.Leu394Leu|1432/5056|1182/1995|394/664||,A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|10/14|c.801G>A|p.Leu267Leu|1150/4774|801/1614|267/537|| 22 32487669 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|11/15|c.1200C>T|p.Ser400Ser|1450/5056|1200/1995|400/664||,T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|10/14|c.819C>T|p.Ser273Ser|1168/4774|819/1614|273/537|| 22 32487700 . G A . . ANN=A|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|11/15|c.1231G>A|p.Ala411Thr|1481/5056|1231/1995|411/664||,A|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|10/14|c.850G>A|p.Ala284Thr|1199/4774|850/1614|284/537|| 22 32487744 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|11/15|c.1275C>T|p.Ala425Ala|1525/5056|1275/1995|425/664||,T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|10/14|c.894C>T|p.Ala298Ala|1243/4774|894/1614|298/537|| 22 32495248 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|12/15|c.1359C>T|p.Phe453Phe|1609/5056|1359/1995|453/664||,T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|11/14|c.978C>T|p.Phe326Phe|1327/4774|978/1614|326/537|| 22 32498089 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|13/15|c.1530C>T|p.Ser510Ser|1780/5056|1530/1995|510/664||,T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|12/14|c.1149C>T|p.Ser383Ser|1498/4774|1149/1614|383/537|| 22 32500727 . G A . . ANN=A|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|13/14|c.1666-46G>A||||||,A|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|12/13|c.1285-46G>A|||||| 22 32500768 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|13/14|c.1666-5T>C||||||,C|splice_region_variant&intron_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|12/13|c.1285-5T>C|||||| 22 32500870 . T C . . ANN=C|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|14/15|c.1763T>C|p.Ile588Thr|2013/5056|1763/1995|588/664||,C|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|13/14|c.1382T>C|p.Ile461Thr|1731/4774|1382/1614|461/537|| 22 32505956 . T C . . ANN=C|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|14/14|c.1772-21T>C||||||,C|intron_variant|MODIFIER|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|13/13|c.1391-21T>C|||||| 22 32506041 . A G . . ANN=G|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|15/15|c.1836A>G|p.Leu612Leu|2086/5056|1836/1995|612/664||,G|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|14/14|c.1455A>G|p.Leu485Leu|1804/4774|1455/1614|485/537|| 22 32506050 . C G . . ANN=G|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|15/15|c.1845C>G|p.His615Gln|2095/5056|1845/1995|615/664||,G|missense_variant|MODERATE|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|14/14|c.1464C>G|p.His488Gln|1813/4774|1464/1614|488/537|| 22 32506104 . G A . . ANN=A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|15/15|c.1899G>A|p.Thr633Thr|2149/5056|1899/1995|633/664||,A|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|14/14|c.1518G>A|p.Thr506Thr|1867/4774|1518/1614|506/537|| 22 32506143 . C T . . ANN=T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_000343.3|Coding|15/15|c.1938C>T|p.Asn646Asn|2188/5056|1938/1995|646/664||,T|synonymous_variant|LOW|SLC5A1|SLC5A1|transcript|NM_001256314.1|Coding|14/14|c.1557C>T|p.Asn519Asn|1906/4774|1557/1614|519/537|| 22 32545720 . C G . . ANN=G|intron_variant|MODIFIER|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|8/8|c.682+20G>C|||||| 22 32545762 . C T . . ANN=T|synonymous_variant|LOW|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|8/9|c.660G>A|p.Lys220Lys|701/805|660/756|220/251|| 22 32545789 . C T . . ANN=T|intron_variant|MODIFIER|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|7/8|c.655-22G>A|||||| 22 32546289 . A G . . ANN=G|intron_variant|MODIFIER|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|7/8|c.654+17T>C|||||| 22 32546299 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|7/8|c.654+7T>C|||||| 22 32546312 . C T . . ANN=T|synonymous_variant|LOW|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|7/9|c.648G>A|p.Pro216Pro|689/805|648/756|216/251|| 22 32546313 . G A . . ANN=A|missense_variant|MODERATE|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|7/9|c.647C>T|p.Pro216Leu|688/805|647/756|216/251|| 22 32546319 . A G . . ANN=G|missense_variant|MODERATE|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|7/9|c.641T>C|p.Met214Thr|682/805|641/756|214/251|| 22 32546409 . G A . . ANN=A|missense_variant|MODERATE|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|7/9|c.551C>T|p.Ser184Leu|592/805|551/756|184/251|| 22 32546959 . G T . . ANN=T|intron_variant|MODIFIER|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|6/8|c.493+20C>A|||||| 22 32546975 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|6/8|c.493+4C>T|||||| 22 32547484 . G A . . ANN=A|missense_variant|MODERATE|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|5/9|c.455C>T|p.Thr152Met|496/805|455/756|152/251|| 22 32547523 . A T . . ANN=T|missense_variant|MODERATE|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|5/9|c.416T>A|p.Val139Glu|457/805|416/756|139/251|| 22 32548021 . G A . . ANN=A|intron_variant|MODIFIER|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|4/8|c.400+33C>T|||||| 22 32548036 . T TA . . ANN=TA|intron_variant|MODIFIER|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|4/8|c.400+17_400+18insT|||||| 22 32548060 . C T . . ANN=T|missense_variant|MODERATE|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|4/9|c.394G>A|p.Asp132Asn|435/805|394/756|132/251|| 22 32548128 . G T . . ANN=T|intron_variant|MODIFIER|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|3/8|c.373-47C>A|||||| 22 32554956 . C T . . ANN=T|intron_variant|MODIFIER|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|1/8|c.232+15G>A|||||| 22 32554985 . A G . . ANN=G|missense_variant|MODERATE|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|1/9|c.218T>C|p.Leu73Pro|259/805|218/756|73/251|| 22 32554996 . C T . . ANN=T|synonymous_variant|LOW|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|1/9|c.207G>A|p.Thr69Thr|248/805|207/756|69/251|| 22 32554997 . G A . . ANN=A|missense_variant|MODERATE|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|1/9|c.206C>T|p.Thr69Met|247/805|206/756|69/251|| 22 32555023 . G A . . ANN=A|synonymous_variant|LOW|C22orf42|C22orf42|transcript|NM_001010859.1|Coding|1/9|c.180C>T|p.Leu60Leu|221/805|180/756|60/251|| 22 32587251 . C A . . ANN=A|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|5/5|c.645G>T|p.Gln215His|1581/2410|645/1137|215/378||,A|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_006605.3|Coding|2/2|c.462G>T|p.Gln154His|667/1496|462/954|154/317||,A|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|4/4|c.375G>T|p.Gln125His|652/1481|375/867|125/288||,A|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|4/4|c.375G>T|p.Gln125His|623/1452|375/867|125/288|| 22 32587273 . A C . . ANN=C|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|5/5|c.623T>G|p.Val208Gly|1559/2410|623/1137|208/378||,C|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_006605.3|Coding|2/2|c.440T>G|p.Val147Gly|645/1496|440/954|147/317||,C|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|4/4|c.353T>G|p.Val118Gly|630/1481|353/867|118/288||,C|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|4/4|c.353T>G|p.Val118Gly|601/1452|353/867|118/288|| 22 32587286 . C T . . ANN=T|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|5/5|c.610G>A|p.Asp204Asn|1546/2410|610/1137|204/378||,T|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_006605.3|Coding|2/2|c.427G>A|p.Asp143Asn|632/1496|427/954|143/317||,T|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|4/4|c.340G>A|p.Asp114Asn|617/1481|340/867|114/288||,T|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|4/4|c.340G>A|p.Asp114Asn|588/1452|340/867|114/288|| 22 32587302 . G A . . ANN=A|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|5/5|c.594C>T|p.Phe198Phe|1530/2410|594/1137|198/378||,A|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_006605.3|Coding|2/2|c.411C>T|p.Phe137Phe|616/1496|411/954|137/317||,A|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|4/4|c.324C>T|p.Phe108Phe|601/1481|324/867|108/288||,A|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|4/4|c.324C>T|p.Phe108Phe|572/1452|324/867|108/288|| 22 32587350 . GA G,GAA . . ANN=G|intron_variant|MODIFIER|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|4/4|c.557-12delT||||||,GAA|intron_variant|MODIFIER|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|4/4|c.557-13_557-12insT||||||,G|intron_variant|MODIFIER|RFPL2|RFPL2|transcript|NM_006605.3|Coding|1/1|c.374-12delT||||||,GAA|intron_variant|MODIFIER|RFPL2|RFPL2|transcript|NM_006605.3|Coding|1/1|c.374-13_374-12insT||||||,G|intron_variant|MODIFIER|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|3/3|c.287-12delT||||||,GAA|intron_variant|MODIFIER|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|3/3|c.287-13_287-12insT||||||,G|intron_variant|MODIFIER|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|3/3|c.287-12delT||||||,GAA|intron_variant|MODIFIER|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|3/3|c.287-13_287-12insT|||||| 22 32588901 . G A . . ANN=A|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|4/5|c.544C>T|p.Arg182Trp|1480/2410|544/1137|182/378||,A|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_006605.3|Coding|1/2|c.361C>T|p.Arg121Trp|566/1496|361/954|121/317||,A|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|3/4|c.274C>T|p.Arg92Trp|551/1481|274/867|92/288||,A|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|3/4|c.274C>T|p.Arg92Trp|522/1452|274/867|92/288|| 22 32588980 . C G . . ANN=G|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|4/5|c.465G>C|p.Arg155Arg|1401/2410|465/1137|155/378||,G|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_006605.3|Coding|1/2|c.282G>C|p.Arg94Arg|487/1496|282/954|94/317||,G|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|3/4|c.195G>C|p.Arg65Arg|472/1481|195/867|65/288||,G|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|3/4|c.195G>C|p.Arg65Arg|443/1452|195/867|65/288|| 22 32589023 . C T . . ANN=T|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|4/5|c.422G>A|p.Cys141Tyr|1358/2410|422/1137|141/378||,T|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_006605.3|Coding|1/2|c.239G>A|p.Cys80Tyr|444/1496|239/954|80/317||,T|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|3/4|c.152G>A|p.Cys51Tyr|429/1481|152/867|51/288||,T|missense_variant|MODERATE|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|3/4|c.152G>A|p.Cys51Tyr|400/1452|152/867|51/288|| 22 32589034 . T C . . ANN=C|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001098527.2|Coding|4/5|c.411A>G|p.Leu137Leu|1347/2410|411/1137|137/378||,C|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_006605.3|Coding|1/2|c.228A>G|p.Leu76Leu|433/1496|228/954|76/317||,C|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001159546.1|Coding|3/4|c.141A>G|p.Leu47Leu|418/1481|141/867|47/288||,C|synonymous_variant|LOW|RFPL2|RFPL2|transcript|NM_001159545.1|Coding|3/4|c.141A>G|p.Leu47Leu|389/1452|141/867|47/288|| 22 32614464 . T G . . ANN=G|splice_region_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|15/15|c.*37A>C||||||,G|3_prime_UTR_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|15/15|c.*37A>C|||||37| 22 32614536 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|15/15|c.1945G>A|p.Ala649Thr|1947/2020|1945/1980|649/659|| 22 32614694 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|15/15|c.1787G>A|p.Arg596His|1789/2020|1787/1980|596/659|| 22 32614712 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|15/15|c.1769A>G|p.Asp590Gly|1771/2020|1769/1980|590/659|| 22 32614713 . C T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|14/14|c.1769-1G>A||||||;LOF=(SLC5A4|SLC5A4|1|1.00) 22 32616864 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|14/14|c.1768+43G>A|||||| 22 32616870 . G A . . ANN=A|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|14/14|c.1768+37C>T|||||| 22 32616967 . G A . . ANN=A|stop_gained|HIGH|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|14/15|c.1708C>T|p.Arg570*|1710/2020|1708/1980|570/659||;LOF=(SLC5A4|SLC5A4|1|1.00);NMD=(SLC5A4|SLC5A4|1|1.00) 22 32616971 . C T . . ANN=T|synonymous_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|14/15|c.1704G>A|p.Glu568Glu|1706/2020|1704/1980|568/659|| 22 32616985 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|14/15|c.1690C>T|p.Arg564Trp|1692/2020|1690/1980|564/659|| 22 32617002 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|14/15|c.1673G>A|p.Arg558His|1675/2020|1673/1980|558/659|| 22 32620322 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|13/15|c.1597C>T|p.Leu533Phe|1599/2020|1597/1980|533/659|| 22 32620349 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|13/15|c.1570G>A|p.Val524Met|1572/2020|1570/1980|524/659|| 22 32621619 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|12/14|c.1449+23G>A|||||| 22 32621730 . T C . . ANN=C|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|12/15|c.1361A>G|p.His454Arg|1363/2020|1361/1980|454/659|| 22 32621731 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|12/15|c.1360C>T|p.His454Tyr|1362/2020|1360/1980|454/659|| 22 32625151 . G A . . ANN=A|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|11/14|c.1280+30C>T|||||| 22 32625163 . G T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|11/14|c.1280+18C>A|||||| 22 32625208 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|11/15|c.1253C>T|p.Ser418Leu|1255/2020|1253/1980|418/659|| 22 32625210 . C T . . ANN=T|synonymous_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|11/15|c.1251G>A|p.Ala417Ala|1253/2020|1251/1980|417/659|| 22 32625260 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|11/15|c.1201G>A|p.Ala401Thr|1203/2020|1201/1980|401/659|| 22 32625297 . G A . . ANN=A|synonymous_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|11/15|c.1164C>T|p.Ala388Ala|1166/2020|1164/1980|388/659|| 22 32625347 . G A . . ANN=A|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|10/14|c.1130-16C>T|||||| 22 32625352 . A G . . ANN=G|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|10/14|c.1130-21T>C|||||| 22 32626908 . G A . . ANN=A|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|10/14|c.1129+47C>T|||||| 22 32627045 . C CCA . . ANN=CCA|frameshift_variant|HIGH|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|10/15|c.1037_1038dupTG|p.Val347fs|1040/2020|1038/1980|346/659||;LOF=(SLC5A4|SLC5A4|1|1.00) 22 32628870 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|9/14|c.1021+16G>A|||||| 22 32628900 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|9/15|c.1007G>A|p.Arg336His|1009/2020|1007/1980|336/659|| 22 32628961 . T A . . ANN=A|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|9/15|c.946A>T|p.Met316Leu|948/2020|946/1980|316/659|| 22 32629008 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|9/15|c.899G>A|p.Arg300His|901/2020|899/1980|300/659|| 22 32629026 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/14|c.886-5G>A|||||| 22 32629034 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/14|c.886-13G>A|||||| 22 32629046 . A T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/14|c.886-25T>A|||||| 22 32630812 . CACAG C . . ANN=C|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/14|c.885+44_885+47delCTGT|||||| 22 32630851 . A G . . ANN=G|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/14|c.885+9T>C|||||| 22 32630883 . A G . . ANN=G|synonymous_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/15|c.862T>C|p.Leu288Leu|864/2020|862/1980|288/659|| 22 32630898 . T C . . ANN=C|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/15|c.847A>G|p.Met283Val|849/2020|847/1980|283/659|| 22 32630946 . G A . . ANN=A|stop_gained|HIGH|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/15|c.799C>T|p.Arg267*|801/2020|799/1980|267/659||;LOF=(SLC5A4|SLC5A4|1|1.00);NMD=(SLC5A4|SLC5A4|1|1.00) 22 32630990 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/15|c.755G>A|p.Ser252Asn|757/2020|755/1980|252/659|| 22 32631018 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|8/15|c.727G>A|p.Val243Ile|729/2020|727/1980|243/659|| 22 32631081 . C T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|7/14|c.665-1G>A||||||;LOF=(SLC5A4|SLC5A4|1|1.00) 22 32633317 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|6/14|c.584-6C>T|||||| 22 32634941 . C A . . ANN=A|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|6/14|c.583+31G>T|||||| 22 32634951 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|6/14|c.583+21G>A|||||| 22 32635113 . G A . . ANN=A|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|5/14|c.478-36C>T|||||| 22 32635119 . G T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|5/14|c.478-42C>A|||||| 22 32643354 . G C . . ANN=C|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|5/14|c.477+44C>G|||||| 22 32643357 . C G . . ANN=G|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|5/14|c.477+41G>C|||||| 22 32643425 . G A . . ANN=A|synonymous_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|5/15|c.450C>T|p.Leu150Leu|452/2020|450/1980|150/659|| 22 32643447 . AC A . . ANN=A|frameshift_variant|HIGH|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|5/15|c.427delG|p.Val143fs|429/2020|427/1980|143/659||;LOF=(SLC5A4|SLC5A4|1|1.00) 22 32643460 . C A . . ANN=A|stop_gained|HIGH|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|5/15|c.415G>T|p.Glu139*|417/2020|415/1980|139/659||;LOF=(SLC5A4|SLC5A4|1|1.00);NMD=(SLC5A4|SLC5A4|1|1.00) 22 32643471 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|5/15|c.404G>A|p.Arg135Gln|406/2020|404/1980|135/659|| 22 32643537 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|4/14|c.373-35G>A|||||| 22 32647763 . T A . . ANN=A|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|3/15|c.306A>T|p.Glu102Asp|308/2020|306/1980|102/659|| 22 32647802 . C T . . ANN=T|synonymous_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|3/15|c.267G>A|p.Gly89Gly|269/2020|267/1980|89/659|| 22 32647831 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|3/15|c.238G>A|p.Gly80Ser|240/2020|238/1980|80/659|| 22 32647832 . G A . . ANN=A|synonymous_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|3/15|c.237C>T|p.Ile79Ile|239/2020|237/1980|79/659|| 22 32647857 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|3/15|c.212G>A|p.Gly71Asp|214/2020|212/1980|71/659|| 22 32650106 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|2/14|c.207+23G>A|||||| 22 32650107 . C T . . ANN=T|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|2/14|c.207+22G>A|||||| 22 32650182 . G A . . ANN=A|stop_gained|HIGH|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|2/15|c.154C>T|p.Arg52*|156/2020|154/1980|52/659||;LOF=(SLC5A4|SLC5A4|1|1.00);NMD=(SLC5A4|SLC5A4|1|1.00) 22 32650200 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|2/15|c.136G>A|p.Ala46Thr|138/2020|136/1980|46/659|| 22 32651143 . C A . . ANN=A|intron_variant|MODIFIER|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|1/14|c.135+39G>T|||||| 22 32651198 . A T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|1/15|c.119T>A|p.Met40Lys|121/2020|119/1980|40/659|| 22 32651226 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|1/15|c.91G>A|p.Val31Ile|93/2020|91/1980|31/659|| 22 32651238 . C T . . ANN=T|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|1/15|c.79G>A|p.Ala27Thr|81/2020|79/1980|27/659|| 22 32651262 . A G . . ANN=G|synonymous_variant|LOW|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|1/15|c.55T>C|p.Leu19Leu|57/2020|55/1980|19/659|| 22 32651295 . T A . . ANN=A|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|1/15|c.22A>T|p.Ser8Cys|24/2020|22/1980|8/659|| 22 32651306 . G A . . ANN=A|missense_variant|MODERATE|SLC5A4|SLC5A4|transcript|NM_014227.2|Coding|1/15|c.11C>T|p.Thr4Met|13/2020|11/1980|4/659|| 22 32651345 . C T . . ANN=T|intergenic_region|MODIFIER|SLC5A4-RFPL3|SLC5A4-RFPL3|intergenic_region|SLC5A4-RFPL3||||||||| 22 32754014 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|1/2|c.-45G>A|||||45|,A|intron_variant|MODIFIER|RFPL3|RFPL3|transcript|NM_006604.2|Coding|1/2|c.-5-127G>A|||||| 22 32754286 . G A . . ANN=A|synonymous_variant|LOW|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|1/2|c.228G>A|p.Leu76Leu|433/1488|228/954|76/317||,A|synonymous_variant|LOW|RFPL3|RFPL3|transcript|NM_006604.2|Coding|2/3|c.141G>A|p.Leu47Leu|159/1214|141/867|47/288|| 22 32754382 . C G . . ANN=G|synonymous_variant|LOW|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|1/2|c.324C>G|p.Pro108Pro|529/1488|324/954|108/317||,G|synonymous_variant|LOW|RFPL3|RFPL3|transcript|NM_006604.2|Coding|2/3|c.237C>G|p.Pro79Pro|255/1214|237/867|79/288|| 22 32754386 . C A . . ANN=A|missense_variant|MODERATE|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|1/2|c.328C>A|p.Leu110Met|533/1488|328/954|110/317||,A|missense_variant|MODERATE|RFPL3|RFPL3|transcript|NM_006604.2|Coding|2/3|c.241C>A|p.Leu81Met|259/1214|241/867|81/288|| 22 32754419 . C T . . ANN=T|missense_variant|MODERATE|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|1/2|c.361C>T|p.Arg121Trp|566/1488|361/954|121/317||,T|missense_variant|MODERATE|RFPL3|RFPL3|transcript|NM_006604.2|Coding|2/3|c.274C>T|p.Arg92Trp|292/1214|274/867|92/288|| 22 32754453 . C A . . ANN=A|intron_variant|MODIFIER|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|1/1|c.373+22C>A||||||,A|intron_variant|MODIFIER|RFPL3|RFPL3|transcript|NM_006604.2|Coding|2/2|c.286+22C>A|||||| 22 32756241 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|2/2|c.376G>A|p.Asp126Asn|581/1488|376/954|126/317||,A|missense_variant&splice_region_variant|MODERATE|RFPL3|RFPL3|transcript|NM_006604.2|Coding|3/3|c.289G>A|p.Asp97Asn|307/1214|289/867|97/288||,A|non_coding_exon_variant|MODIFIER|RFPL3S|RFPL3S|transcript|NR_002596.2|Noncoding|5/5|n.947C>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL3S|RFPL3S|transcript|NR_001450.3|Noncoding|4/4|n.860C>T||||||,A|non_coding_exon_variant|MODIFIER|RFPL3S|RFPL3S|transcript|NR_104232.1|Noncoding|5/5|n.792C>T|||||| 22 32756460 . G C . . ANN=C|missense_variant|MODERATE|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|2/2|c.595G>C|p.Glu199Gln|800/1488|595/954|199/317||,C|missense_variant|MODERATE|RFPL3|RFPL3|transcript|NM_006604.2|Coding|3/3|c.508G>C|p.Glu170Gln|526/1214|508/867|170/288||,C|non_coding_exon_variant|MODIFIER|RFPL3S|RFPL3S|transcript|NR_002596.2|Noncoding|5/5|n.728C>G||||||,C|non_coding_exon_variant|MODIFIER|RFPL3S|RFPL3S|transcript|NR_001450.3|Noncoding|4/4|n.641C>G||||||,C|non_coding_exon_variant|MODIFIER|RFPL3S|RFPL3S|transcript|NR_104232.1|Noncoding|5/5|n.573C>G|||||| 22 32756830 . CA C . . ANN=C|splice_region_variant&intron_variant|LOW|RFPL3S|RFPL3S|transcript|NR_002596.2|Noncoding|4/4|n.362-5delT||||||,C|splice_region_variant&intron_variant|LOW|RFPL3S|RFPL3S|transcript|NR_001450.3|Noncoding|3/3|n.275-5delT||||||,C|splice_region_variant&intron_variant|LOW|RFPL3S|RFPL3S|transcript|NR_104232.1|Noncoding|4/4|n.207-5delT||||||,|3_prime_UTR_variant|MODIFIER|RFPL3|RFPL3|transcript|NM_001098535.1|Coding|2/2|c.*20delA|||||20|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|RFPL3|RFPL3|transcript|NM_006604.2|Coding|3/3|c.*20delA|||||20|INFO_REALIGN_3_PRIME 22 32783940 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|12/12|c.*39C>A|||||39| 22 32783959 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|12/12|c.*20G>A|||||20| 22 32784051 . T C . . ANN=C|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|12/12|c.1446A>G|p.Val482Val|1577/2066|1446/1518|482/505|| 22 32784127 . AAC A . . ANN=A|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|11/11|c.1411-43_1411-42delGT|||||| 22 32788197 . T C . . ANN=C|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|11/11|c.1410+30A>G|||||| 22 32788248 . T A . . ANN=A|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|11/12|c.1389A>T|p.Ser463Ser|1520/2066|1389/1518|463/505|| 22 32788264 . G A . . ANN=A|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|11/12|c.1373C>T|p.Ala458Val|1504/2066|1373/1518|458/505|| 22 32788393 . A G . . ANN=G|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|10/11|c.1291-47T>C|||||| 22 32790036 . G C . . ANN=C|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|9/11|c.1180-47C>G|||||| 22 32790972 . G A . . ANN=A|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|9/11|c.1179+41C>T|||||| 22 32790981 . C G . . ANN=G|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|9/11|c.1179+32G>C|||||| 22 32791003 . A C . . ANN=C|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|9/11|c.1179+10T>G|||||| 22 32791057 . G A . . ANN=A|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|9/12|c.1135C>T|p.Arg379Cys|1266/2066|1135/1518|379/505|| 22 32791151 . C G . . ANN=G|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|9/12|c.1041G>C|p.Val347Val|1172/2066|1041/1518|347/505|| 22 32791195 . C T . . ANN=T|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|9/12|c.997G>A|p.Ala333Thr|1128/2066|997/1518|333/505|| 22 32792020 . A G . . ANN=G|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|8/11|c.990+41T>C|||||| 22 32792029 . G A . . ANN=A|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|8/11|c.990+32C>T|||||| 22 32792056 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|8/11|c.990+5A>G|||||| 22 32792065 . C T . . ANN=T|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|8/12|c.986G>A|p.Arg329His|1117/2066|986/1518|329/505|| 22 32792151 . G A . . ANN=A|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|8/12|c.900C>T|p.Ser300Ser|1031/2066|900/1518|300/505|| 22 32792223 . A G . . ANN=G|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|8/12|c.828T>C|p.Ala276Ala|959/2066|828/1518|276/505|| 22 32792282 . A G . . ANN=G|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|7/11|c.815-46T>C|||||| 22 32794043 . A C . . ANN=C|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|7/12|c.699T>G|p.Val233Val|830/2066|699/1518|233/505|| 22 32795578 . A G . . ANN=G|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|6/11|c.654+12T>C|||||| 22 32795626 . T C . . ANN=C|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|6/12|c.618A>G|p.Lys206Lys|749/2066|618/1518|206/505|| 22 32795641 . C T . . ANN=T|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|6/12|c.603G>A|p.Gln201Gln|734/2066|603/1518|201/505|| 22 32795708 . G A . . ANN=A|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|6/12|c.536C>T|p.Ser179Phe|667/2066|536/1518|179/505|| 22 32795751 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|5/11|c.498-5T>C|||||| 22 32795786 . G A . . ANN=A|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|5/11|c.498-40C>T|||||| 22 32797744 . T C . . ANN=C|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|5/12|c.487A>G|p.Met163Val|618/2066|487/1518|163/505|| 22 32797807 . G T . . ANN=T|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|5/12|c.424C>A|p.Gln142Lys|555/2066|424/1518|142/505|| 22 32797808 . C T . . ANN=T|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|5/12|c.423G>A|p.Glu141Glu|554/2066|423/1518|141/505|| 22 32802603 . C G . . ANN=G|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|4/11|c.340+46G>C|||||| 22 32802631 . T G . . ANN=G|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|4/11|c.340+18A>C|||||| 22 32802680 . A G . . ANN=G|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|4/12|c.309T>C|p.Asp103Asp|440/2066|309/1518|103/505|| 22 32802718 . C T . . ANN=T|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|4/12|c.271G>A|p.Gly91Arg|402/2066|271/1518|91/505|| 22 32802742 . T C . . ANN=C|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|4/12|c.247A>G|p.Ile83Val|378/2066|247/1518|83/505|| 22 32802790 . G C . . ANN=C|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|3/11|c.241-42C>G|||||| 22 32804122 . T C . . ANN=C|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|3/11|c.240+40A>G|||||| 22 32804176 . G T . . ANN=T|missense_variant|MODERATE|RTCB|RTCB|transcript|NM_014306.4|Coding|3/12|c.226C>A|p.Pro76Thr|357/2066|226/1518|76/505|| 22 32804782 . T C . . ANN=C|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|2/12|c.132A>G|p.Lys44Lys|263/2066|132/1518|44/505|| 22 32804861 . C T . . ANN=T|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|1/11|c.94-41G>A|||||| 22 32808005 . C T . . ANN=T|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|1/11|c.93+46G>A|||||| 22 32808011 . C G . . ANN=G|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|1/11|c.93+40G>C|||||| 22 32808012 . G T . . ANN=T|intron_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|1/11|c.93+39C>A|||||| 22 32808078 . G A . . ANN=A|synonymous_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|1/12|c.66C>T|p.Ile22Ile|197/2066|66/1518|22/505|| 22 32808158 . T C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|RTCB|RTCB|transcript|NM_014306.4|Coding|1/12|c.-15A>G||||||,C|5_prime_UTR_variant|MODIFIER|RTCB|RTCB|transcript|NM_014306.4|Coding|1/12|c.-15A>G|||||15| 22 32810346 . C T . . ANN=T|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|15/15|c.1468G>A|p.Val490Ile|1468/1980|1468/1524|490/507|| 22 32810378 . T G . . ANN=G|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|15/15|c.1436A>C|p.Glu479Ala|1436/1980|1436/1524|479/507|| 22 32811856 . T A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|14/14|c.1401+46A>T|||||| 22 32811884 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|14/14|c.1401+18A>G|||||| 22 32811952 . A G . . ANN=G|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|14/15|c.1351T>C|p.Ser451Pro|1351/1980|1351/1524|451/507|| 22 32811973 . A G . . ANN=G|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|14/15|c.1330T>C|p.Leu444Leu|1330/1980|1330/1524|444/507|| 22 32811998 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|13/14|c.1325-20C>T|||||| 22 32812006 . ATTGGGCACAAGCACAGAGG A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|13/14|c.1325-47_1325-29delCCTCTGTGCTTGTGCCCAA|||||| 22 32813110 . G A . . ANN=A|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|13/15|c.1286C>T|p.Ser429Leu|1286/1980|1286/1524|429/507|| 22 32813176 . CT C . . ANN=C|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|12/14|c.1261-42delA|||||| 22 32815398 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|11/14|c.1218-7C>T|||||| 22 32815441 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|11/14|c.1218-50A>G|||||| 22 32827417 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|10/14|c.1150-16C>T|||||| 22 32827423 . A AT . . ANN=AT|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|10/14|c.1150-23_1150-22insA|||||| 22 32828343 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|10/14|c.1149+17A>G|||||| 22 32828366 . C A . . ANN=A|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|10/15|c.1143G>T|p.Met381Ile|1143/1980|1143/1524|381/507|| 22 32828375 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|10/15|c.1134C>T|p.Ile378Ile|1134/1980|1134/1524|378/507|| 22 32828429 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|10/15|c.1080C>T|p.Ile360Ile|1080/1980|1080/1524|360/507|| 22 32828544 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|9/14|c.979-14C>T|||||| 22 32828556 . A C . . ANN=C|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|9/14|c.979-26T>G|||||| 22 32829800 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|8/14|c.925-41C>T|||||| 22 32831711 . C G . . ANN=G|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|8/15|c.904G>C|p.Val302Leu|904/1980|904/1524|302/507|| 22 32831721 . C T . . ANN=T|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|8/15|c.894G>A|p.Gly298Gly|894/1980|894/1524|298/507|| 22 32831769 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|8/15|c.846C>T|p.Ile282Ile|846/1980|846/1524|282/507|| 22 32831809 . A G . . ANN=G|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|8/15|c.806T>C|p.Val269Ala|806/1980|806/1524|269/507|| 22 32831828 . A AG . . ANN=AG|frameshift_variant|HIGH|BPIFC|BPIFC|transcript|NM_174932.2|Coding|8/15|c.786dupC|p.Phe263fs|786/1980|786/1524|262/507||;LOF=(BPIFC|BPIFC|1|1.00) 22 32831830 . G A . . ANN=A|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|8/15|c.785C>T|p.Pro262Leu|785/1980|785/1524|262/507|| 22 32831837 . C T . . ANN=T|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|8/15|c.778G>A|p.Asp260Asn|778/1980|778/1524|260/507|| 22 32833717 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|7/14|c.747+30C>T|||||| 22 32833729 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|7/14|c.747+18A>G|||||| 22 32833754 . T C . . ANN=C|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|7/15|c.740A>G|p.Asn247Ser|740/1980|740/1524|247/507|| 22 32838673 . G A . . ANN=A|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|6/15|c.640C>T|p.Leu214Phe|640/1980|640/1524|214/507|| 22 32841928 . T C . . ANN=C|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|4/15|c.430A>G|p.Ile144Val|430/1980|430/1524|144/507|| 22 32841950 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|4/15|c.408C>T|p.Ser136Ser|408/1980|408/1524|136/507|| 22 32842003 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|3/14|c.375-20C>T|||||| 22 32842010 . A C . . ANN=C|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|3/14|c.375-27T>G|||||| 22 32843175 . C T . . ANN=T|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|3/14|c.374+24G>A|||||| 22 32843258 . C T . . ANN=T|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|3/15|c.315G>A|p.Ala105Ala|315/1980|315/1524|105/507|| 22 32843259 . G A . . ANN=A|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|3/15|c.314C>T|p.Ala105Val|314/1980|314/1524|105/507|| 22 32843312 . G A . . ANN=A|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|3/15|c.261C>T|p.Ala87Ala|261/1980|261/1524|87/507|| 22 32843317 . T C . . ANN=C|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|3/15|c.256A>G|p.Ser86Gly|256/1980|256/1524|86/507|| 22 32849352 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|2/14|c.245+18C>T|||||| 22 32849393 . A G . . ANN=G|synonymous_variant|LOW|BPIFC|BPIFC|transcript|NM_174932.2|Coding|2/15|c.222T>C|p.Asp74Asp|222/1980|222/1524|74/507|| 22 32849470 . T A . . ANN=A|missense_variant|MODERATE|BPIFC|BPIFC|transcript|NM_174932.2|Coding|2/15|c.145A>T|p.Met49Leu|145/1980|145/1524|49/507|| 22 32849525 . G A . . ANN=A|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|1/14|c.125-35C>T|||||| 22 32853229 . T C . . ANN=C|intron_variant|MODIFIER|BPIFC|BPIFC|transcript|NM_174932.2|Coding|1/14|c.124+21A>G|||||| 22 32871011 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_012179.3|Coding|1/9|c.22C>T|p.Leu8Leu|305/2153|22/1569|8/522|| 22 32871120 . G A . . ANN=A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|1/8|c.122+9G>A|||||| 22 32871365 . G A . . ANN=A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|1/9|c.17G>A|p.Gly6Glu|142/1758|17/1332|6/443||,A|5_prime_UTR_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|1/9|c.-241G>A|||||3823|,A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|1/8|c.122+254G>A|||||| 22 32871383 . T G . . ANN=G|missense_variant&splice_region_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|1/9|c.35T>G|p.Leu12Arg|160/1758|35/1332|12/443||,G|splice_region_variant|LOW|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|1/9|c.-223T>G||||||,G|5_prime_UTR_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|1/9|c.-223T>G|||||3805|,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|1/8|c.122+272T>G|||||| 22 32874953 . T G . . ANN=G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|1/8|c.123-15T>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|1/8|c.38-167T>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|1/8|c.-220-15T>G|||||| 22 32874958 . T G . . ANN=G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|1/8|c.123-10T>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|1/8|c.38-162T>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|1/8|c.-220-10T>G|||||| 22 32875050 . G A . . ANN=A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|2/9|c.205G>A|p.Val69Ile|488/2153|205/1569|69/522||,A|5_prime_UTR_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|2/9|c.-138G>A|||||138|,A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|1/8|c.38-70G>A|||||| 22 32875122 . T G . . ANN=G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|2/9|c.277T>G|p.Ser93Ala|560/2153|277/1569|93/522||,G|missense_variant&splice_region_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|2/9|c.40T>G|p.Ser14Ala|165/1758|40/1332|14/443||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|2/9|c.-66T>G||||||,G|5_prime_UTR_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|2/9|c.-66T>G|||||66| 22 32875157 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_012179.3|Coding|2/9|c.312C>T|p.Pro104Pro|595/2153|312/1569|104/522||,T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|2/9|c.75C>T|p.Pro25Pro|200/1758|75/1332|25/443||,T|5_prime_UTR_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|2/9|c.-31C>T|||||31| 22 32875190 . G A . . ANN=A|start_lost|HIGH|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|2/9|c.3G>A|p.Met1?|385/1910|3/1227|1/408||,A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|2/9|c.345G>A|p.Met115Ile|628/2153|345/1569|115/522||,A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|2/9|c.108G>A|p.Met36Ile|233/1758|108/1332|36/443||;LOF=(FBXO7|FBXO7|3|0.33) 22 32875203 . C T . . ANN=T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|2/9|c.358C>T|p.Pro120Ser|641/2153|358/1569|120/522||,T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|2/9|c.121C>T|p.Pro41Ser|246/1758|121/1332|41/443||,T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|2/9|c.16C>T|p.Pro6Ser|398/1910|16/1227|6/408|| 22 32879841 . A T . . ANN=T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|2/8|c.418-43A>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|2/8|c.181-43A>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|2/8|c.76-43A>T|||||| 22 32879849 . TTTAA T . . ANN=T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|2/8|c.418-34_418-31delTTAA||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|2/8|c.181-34_181-31delTTAA||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|2/8|c.76-34_76-31delTTAA|||||| 22 32879974 . C T . . ANN=T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|3/9|c.508C>T|p.Leu170Phe|791/2153|508/1569|170/522||,T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|3/9|c.271C>T|p.Leu91Phe|396/1758|271/1332|91/443||,T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|3/9|c.166C>T|p.Leu56Phe|548/1910|166/1227|56/408|| 22 32880006 . A G . . ANN=G|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_012179.3|Coding|3/9|c.540A>G|p.Pro180Pro|823/2153|540/1569|180/522||,G|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|3/9|c.303A>G|p.Pro101Pro|428/1758|303/1332|101/443||,G|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|3/9|c.198A>G|p.Pro66Pro|580/1910|198/1227|66/408|| 22 32880067 . G A . . ANN=A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|3/9|c.601G>A|p.Val201Met|884/2153|601/1569|201/522||,A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|3/9|c.364G>A|p.Val122Met|489/1758|364/1332|122/443||,A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|3/9|c.259G>A|p.Val87Met|641/1910|259/1227|87/408|| 22 32880130 . A T . . ANN=T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|3/8|c.645+19A>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|3/8|c.408+19A>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|3/8|c.303+19A>T|||||| 22 32880140 . C T . . ANN=T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|3/8|c.645+29C>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|3/8|c.408+29C>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|3/8|c.303+29C>T|||||| 22 32880143 . A G . . ANN=G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|3/8|c.645+32A>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|3/8|c.408+32A>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|3/8|c.303+32A>G|||||| 22 32881102 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_012179.3|Coding|4/9|c.693C>T|p.Ser231Ser|976/2153|693/1569|231/522||,T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|4/9|c.456C>T|p.Ser152Ser|581/1758|456/1332|152/443||,T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|4/9|c.351C>T|p.Ser117Ser|733/1910|351/1227|117/408|| 22 32881190 . G A . . ANN=A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|4/9|c.781G>A|p.Val261Ile|1064/2153|781/1569|261/522||,A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|4/9|c.544G>A|p.Val182Ile|669/1758|544/1332|182/443||,A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|4/9|c.439G>A|p.Val147Ile|821/1910|439/1227|147/408|| 22 32881225 . G A . . ANN=A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|4/8|c.787+29G>A||||||,A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|4/8|c.550+29G>A||||||,A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|4/8|c.445+29G>A|||||| 22 32881243 . C T . . ANN=T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|4/8|c.787+47C>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|4/8|c.550+47C>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|4/8|c.445+47C>T|||||| 22 32883747 . A G . . ANN=G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|5/9|c.803A>G|p.Asn268Ser|1086/2153|803/1569|268/522||,G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|5/9|c.566A>G|p.Asn189Ser|691/1758|566/1332|189/443||,G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|5/9|c.461A>G|p.Asn154Ser|843/1910|461/1227|154/408|| 22 32883853 . T C . . ANN=C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|5/8|c.871+38T>C||||||,C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|5/8|c.634+38T>C||||||,C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|5/8|c.529+38T>C|||||| 22 32887150 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_012179.3|Coding|6/9|c.949C>T|p.Leu317Leu|1232/2153|949/1569|317/522||,T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|6/9|c.712C>T|p.Leu238Leu|837/1758|712/1332|238/443||,T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|6/9|c.607C>T|p.Leu203Leu|989/1910|607/1227|203/408|| 22 32889065 . C G . . ANN=G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|6/8|c.968-27C>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|6/8|c.731-27C>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|6/8|c.626-27C>G|||||| 22 32889077 . T C . . ANN=C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|6/8|c.968-15T>C||||||,C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|6/8|c.731-15T>C||||||,C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|6/8|c.626-15T>C|||||| 22 32889078 . T G . . ANN=G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|6/8|c.968-14T>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|6/8|c.731-14T>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|6/8|c.626-14T>G|||||| 22 32889191 . C T . . ANN=T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|7/9|c.1067C>T|p.Ser356Phe|1350/2153|1067/1569|356/522||,T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|7/9|c.830C>T|p.Ser277Phe|955/1758|830/1332|277/443||,T|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|7/9|c.725C>T|p.Ser242Phe|1107/1910|725/1227|242/408|| 22 32889249 . A G . . ANN=G|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_012179.3|Coding|7/9|c.1125A>G|p.Leu375Leu|1408/2153|1125/1569|375/522||,G|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|7/9|c.888A>G|p.Leu296Leu|1013/1758|888/1332|296/443||,G|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|7/9|c.783A>G|p.Leu261Leu|1165/1910|783/1227|261/408|| 22 32889265 . C T . . ANN=T|stop_gained|HIGH|FBXO7|FBXO7|transcript|NM_012179.3|Coding|7/9|c.1141C>T|p.Arg381*|1424/2153|1141/1569|381/522||,T|stop_gained|HIGH|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|7/9|c.904C>T|p.Arg302*|1029/1758|904/1332|302/443||,T|stop_gained|HIGH|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|7/9|c.799C>T|p.Arg267*|1181/1910|799/1227|267/408|| 22 32889277 . C T . . ANN=T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|7/8|c.1144+9C>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|7/8|c.907+9C>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|7/8|c.802+9C>T|||||| 22 32889287 . T C . . ANN=C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|7/8|c.1144+19T>C||||||,C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|7/8|c.907+19T>C||||||,C|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|7/8|c.802+19T>C|||||| 22 32889293 . C T . . ANN=T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|7/8|c.1144+25C>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|7/8|c.907+25C>T||||||,T|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|7/8|c.802+25C>T|||||| 22 32891435 . G A . . ANN=A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|7/8|c.1145-45G>A||||||,A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|7/8|c.908-45G>A||||||,A|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|7/8|c.803-45G>A|||||| 22 32891535 . T G . . ANN=G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_012179.3|Coding|8/8|c.1182+18T>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|8/8|c.945+18T>G||||||,G|intron_variant|MODIFIER|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|8/8|c.840+18T>G|||||| 22 32894169 . G A . . ANN=A|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_012179.3|Coding|9/9|c.1221G>A|p.Pro407Pro|1504/2153|1221/1569|407/522||,A|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|9/9|c.984G>A|p.Pro328Pro|1109/1758|984/1332|328/443||,A|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|9/9|c.879G>A|p.Pro293Pro|1261/1910|879/1227|293/408|| 22 32894198 . C G . . ANN=G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|9/9|c.1250C>G|p.Ser417Trp|1533/2153|1250/1569|417/522||,G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|9/9|c.1013C>G|p.Ser338Trp|1138/1758|1013/1332|338/443||,G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|9/9|c.908C>G|p.Ser303Trp|1290/1910|908/1227|303/408|| 22 32894219 . T A . . ANN=A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|9/9|c.1271T>A|p.Phe424Tyr|1554/2153|1271/1569|424/522||,A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|9/9|c.1034T>A|p.Phe345Tyr|1159/1758|1034/1332|345/443||,A|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|9/9|c.929T>A|p.Phe310Tyr|1311/1910|929/1227|310/408|| 22 32894220 . C T . . ANN=T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_012179.3|Coding|9/9|c.1272C>T|p.Phe424Phe|1555/2153|1272/1569|424/522||,T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|9/9|c.1035C>T|p.Phe345Phe|1160/1758|1035/1332|345/443||,T|synonymous_variant|LOW|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|9/9|c.930C>T|p.Phe310Phe|1312/1910|930/1227|310/408|| 22 32894453 . A G . . ANN=G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_012179.3|Coding|9/9|c.1505A>G|p.Asn502Ser|1788/2153|1505/1569|502/522||,G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001033024.1|Coding|9/9|c.1268A>G|p.Asn423Ser|1393/1758|1268/1332|423/443||,G|missense_variant|MODERATE|FBXO7|FBXO7|transcript|NM_001257990.1|Coding|9/9|c.1163A>G|p.Asn388Ser|1545/1910|1163/1227|388/408|| 22 32909637 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|13/13|c.*42G>A|||||42|,T|3_prime_UTR_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|12/12|c.*158G>A|||||158|,T|3_prime_UTR_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|14/14|c.*42G>A|||||42| 22 32909653 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|13/13|c.*26G>C|||||26|,G|3_prime_UTR_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|12/12|c.*142G>C|||||142|,G|3_prime_UTR_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|14/14|c.*26G>C|||||26| 22 32909751 . T A . . ANN=A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|13/13|c.1671A>T|p.Pro557Pro|1830/3041|1671/1743|557/580||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|14/14|c.1668A>T|p.Pro556Pro|1930/3141|1668/1740|556/579||,A|3_prime_UTR_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|12/12|c.*44A>T|||||44| 22 32909824 . G C . . ANN=C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|12/12|c.1611-13C>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-13C>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|13/13|c.1608-13C>G|||||| 22 32909831 . G A . . ANN=A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|12/12|c.1611-20C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-20C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|13/13|c.1608-20C>T|||||| 22 32913997 . T C . . ANN=C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|12/12|c.1610+33A>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-4186A>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|13/13|c.1607+33A>G|||||| 22 32914067 . C G . . ANN=G|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|12/13|c.1573G>C|p.Glu525Gln|1732/3041|1573/1743|525/580||,G|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|13/14|c.1570G>C|p.Glu524Gln|1832/3141|1570/1740|524/579||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-4256G>C|||||| 22 32914089 . A G . . ANN=G|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|12/13|c.1551T>C|p.Arg517Arg|1710/3041|1551/1743|517/580||,G|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|13/14|c.1548T>C|p.Arg516Arg|1810/3141|1548/1740|516/579||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-4278T>C|||||| 22 32914231 . C T . . ANN=T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|12/13|c.1409G>A|p.Ser470Asn|1568/3041|1409/1743|470/580||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|13/14|c.1406G>A|p.Ser469Asn|1668/3141|1406/1740|469/579||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-4420G>A|||||| 22 32914233 . C T . . ANN=T|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|12/13|c.1407G>A|p.Leu469Leu|1566/3041|1407/1743|469/580||,T|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|13/14|c.1404G>A|p.Leu468Leu|1666/3141|1404/1740|468/579||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-4422G>A|||||| 22 32914312 . C T . . ANN=T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|12/13|c.1328G>A|p.Arg443His|1487/3041|1328/1743|443/580||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|13/14|c.1325G>A|p.Arg442His|1587/3141|1325/1740|442/579||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-4501G>A|||||| 22 32914344 . G A . . ANN=A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|11/12|c.1319-23C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1319-4533C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|12/13|c.1316-23C>T|||||| 22 32923890 . C A . . ANN=A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|11/12|c.1318+15G>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|11/11|c.1318+15G>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|12/13|c.1315+15G>T|||||| 22 32923919 . C T . . ANN=T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|11/13|c.1304G>A|p.Arg435His|1463/3041|1304/1743|435/580||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|11/12|c.1304G>A|p.Arg435His|1463/2749|1304/1335|435/444||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|12/14|c.1301G>A|p.Arg434His|1563/3141|1301/1740|434/579|| 22 32923920 . G T . . ANN=T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|11/13|c.1303C>A|p.Arg435Ser|1462/3041|1303/1743|435/580||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|11/12|c.1303C>A|p.Arg435Ser|1462/2749|1303/1335|435/444||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|12/14|c.1300C>A|p.Arg434Ser|1562/3141|1300/1740|434/579|| 22 32923949 . A G . . ANN=G|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|11/13|c.1274T>C|p.Leu425Pro|1433/3041|1274/1743|425/580||,G|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|11/12|c.1274T>C|p.Leu425Pro|1433/2749|1274/1335|425/444||,G|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|12/14|c.1271T>C|p.Leu424Pro|1533/3141|1271/1740|424/579|| 22 32923979 . T C . . ANN=C|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|11/13|c.1244A>G|p.Lys415Arg|1403/3041|1244/1743|415/580||,C|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|11/12|c.1244A>G|p.Lys415Arg|1403/2749|1244/1335|415/444||,C|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|12/14|c.1241A>G|p.Lys414Arg|1503/3141|1241/1740|414/579|| 22 32924024 . A G . . ANN=G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|10/12|c.1231-32T>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|10/11|c.1231-32T>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|11/13|c.1228-32T>C|||||| 22 32924840 . C T . . ANN=T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|10/12|c.1230+21G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|10/11|c.1230+21G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|11/13|c.1227+21G>A|||||| 22 32924854 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|10/12|c.1230+7C>A||||||,T|splice_region_variant&intron_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|10/11|c.1230+7C>A||||||,T|splice_region_variant&intron_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|11/13|c.1227+7C>A|||||| 22 32929861 . C G . . ANN=G|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|9/13|c.1013G>C|p.Ser338Thr|1172/3041|1013/1743|338/580||,G|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|9/12|c.1013G>C|p.Ser338Thr|1172/2749|1013/1335|338/444||,G|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|10/14|c.1010G>C|p.Ser337Thr|1272/3141|1010/1740|337/579|| 22 32934139 . C T . . ANN=T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|7/12|c.918-43G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|7/11|c.918-43G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|8/13|c.915-43G>A|||||| 22 32934145 . T G . . ANN=G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|7/12|c.918-49A>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|7/11|c.918-49A>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|8/13|c.915-49A>C|||||| 22 32937601 . G A . . ANN=A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|7/13|c.873C>T|p.Tyr291Tyr|1032/3041|873/1743|291/580||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|7/12|c.873C>T|p.Tyr291Tyr|1032/2749|873/1335|291/444||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|8/14|c.870C>T|p.Tyr290Tyr|1132/3141|870/1740|290/579|| 22 32937633 . C T . . ANN=T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|7/13|c.841G>A|p.Ala281Thr|1000/3041|841/1743|281/580||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|7/12|c.841G>A|p.Ala281Thr|1000/2749|841/1335|281/444||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|8/14|c.838G>A|p.Ala280Thr|1100/3141|838/1740|280/579|| 22 32937658 . G A . . ANN=A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|7/13|c.816C>T|p.Ser272Ser|975/3041|816/1743|272/580||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|7/12|c.816C>T|p.Ser272Ser|975/2749|816/1335|272/444||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|8/14|c.813C>T|p.Ser271Ser|1075/3141|813/1740|271/579|| 22 32937720 . G GA . . ANN=GA|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|6/12|c.775-22_775-21insT||||||,GA|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|6/11|c.775-22_775-21insT||||||,GA|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|7/13|c.772-22_772-21insT|||||| 22 32937740 . T C . . ANN=C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|6/12|c.775-41A>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|6/11|c.775-41A>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|7/13|c.772-41A>G|||||| 22 32992633 . T G . . ANN=G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|6/12|c.774+27A>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|6/11|c.774+27A>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|7/13|c.771+27A>C|||||| 22 32992675 . G A . . ANN=A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|6/13|c.759C>T|p.His253His|918/3041|759/1743|253/580||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|6/12|c.759C>T|p.His253His|918/2749|759/1335|253/444||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|7/14|c.756C>T|p.His252His|1018/3141|756/1740|252/579|| 22 32992729 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.712-7C>T||||||,A|splice_region_variant&intron_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.712-7C>T||||||,A|splice_region_variant&intron_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.709-7C>T|||||| 22 33245404 . T G . . ANN=G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+15498A>C||||||,G|intron_variant|MODIFIER|TIMP3|TIMP3|transcript|NM_000362.4|Coding|1/4|c.122-35T>G||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+15498A>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+15498A>C|||||| 22 33253186 . G A . . ANN=A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+7716C>T||||||,A|intron_variant|MODIFIER|TIMP3|TIMP3|transcript|NM_000362.4|Coding|2/4|c.205-50G>A||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+7716C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+7716C>T|||||| 22 33253280 . T C . . ANN=C|synonymous_variant|LOW|TIMP3|TIMP3|transcript|NM_000362.4|Coding|3/5|c.249T>C|p.His83His|1435/5486|249/636|83/211||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+7622A>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+7622A>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+7622A>G|||||| 22 33253292 . C T . . ANN=T|synonymous_variant|LOW|TIMP3|TIMP3|transcript|NM_000362.4|Coding|3/5|c.261C>T|p.Ser87Ser|1447/5486|261/636|87/211||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+7610G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+7610G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+7610G>A|||||| 22 33253337 . C T . . ANN=T|synonymous_variant|LOW|TIMP3|TIMP3|transcript|NM_000362.4|Coding|3/5|c.306C>T|p.Tyr102Tyr|1492/5486|306/636|102/211||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+7565G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+7565G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+7565G>A|||||| 22 33253986 . T C . . ANN=C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+6916A>G||||||,C|intron_variant|MODIFIER|TIMP3|TIMP3|transcript|NM_000362.4|Coding|3/4|c.317-18T>C||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+6916A>G||||||,C|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+6916A>G|||||| 22 33254048 . G A . . ANN=A|missense_variant|MODERATE|TIMP3|TIMP3|transcript|NM_000362.4|Coding|4/5|c.361G>A|p.Val121Met|1547/5486|361/636|121/211||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+6854C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+6854C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+6854C>T|||||| 22 33254112 . G A . . ANN=A|missense_variant|MODERATE|TIMP3|TIMP3|transcript|NM_000362.4|Coding|4/5|c.425G>A|p.Gly142Asp|1611/5486|425/636|142/211||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+6790C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+6790C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+6790C>T|||||| 22 33255124 . C A . . ANN=A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+5778G>T||||||,A|intron_variant|MODIFIER|TIMP3|TIMP3|transcript|NM_000362.4|Coding|4/4|c.439-43C>A||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+5778G>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+5778G>T|||||| 22 33255244 . C T . . ANN=T|synonymous_variant|LOW|TIMP3|TIMP3|transcript|NM_000362.4|Coding|5/5|c.516C>T|p.Phe172Phe|1702/5486|516/636|172/211||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+5658G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+5658G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+5658G>A|||||| 22 33255274 . C T . . ANN=T|synonymous_variant|LOW|TIMP3|TIMP3|transcript|NM_000362.4|Coding|5/5|c.546C>T|p.Tyr182Tyr|1732/5486|546/636|182/211||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+5628G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+5628G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+5628G>A|||||| 22 33255284 . C T . . ANN=T|missense_variant|MODERATE|TIMP3|TIMP3|transcript|NM_000362.4|Coding|5/5|c.556C>T|p.Arg186Trp|1742/5486|556/636|186/211||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+5618G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+5618G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+5618G>A|||||| 22 33255315 . G A . . ANN=A|missense_variant|MODERATE|TIMP3|TIMP3|transcript|NM_000362.4|Coding|5/5|c.587G>A|p.Arg196Gln|1773/5486|587/636|196/211||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+5587C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+5587C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+5587C>T|||||| 22 33255403 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TIMP3|TIMP3|transcript|NM_000362.4|Coding|5/5|c.*39G>A|||||39|,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+5499C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+5499C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+5499C>T|||||| 22 33260866 . A G . . ANN=G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+36T>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+36T>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+36T>C|||||| 22 33260886 . A G . . ANN=G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|5/12|c.711+16T>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|5/11|c.711+16T>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|6/13|c.708+16T>C|||||| 22 33264982 . C T . . ANN=T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|4/13|c.592G>A|p.Val198Ile|751/3041|592/1743|198/580||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|4/12|c.592G>A|p.Val198Ile|751/2749|592/1335|198/444||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|5/14|c.589G>A|p.Val197Ile|851/3141|589/1740|197/579|| 22 33327345 . GA G . . ANN=G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|3/12|c.461+29delT||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|3/11|c.461+29delT||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|4/13|c.461+29delT|||||| 22 33327354 . G A . . ANN=A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|3/12|c.461+21C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|3/11|c.461+21C>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|4/13|c.461+21C>T|||||| 22 33327390 . C T . . ANN=T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|3/13|c.446G>A|p.Gly149Glu|605/3041|446/1743|149/580||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|3/12|c.446G>A|p.Gly149Glu|605/2749|446/1335|149/444||,T|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|4/14|c.446G>A|p.Gly149Glu|708/3141|446/1740|149/579|| 22 33327428 . G A . . ANN=A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|3/13|c.408C>T|p.Thr136Thr|567/3041|408/1743|136/580||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|3/12|c.408C>T|p.Thr136Thr|567/2749|408/1335|136/444||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|4/14|c.408C>T|p.Thr136Thr|670/3141|408/1740|136/579|| 22 33327478 . A G . . ANN=G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|2/12|c.370-12T>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|2/11|c.370-12T>C||||||,G|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|3/13|c.370-12T>C|||||| 22 33376632 . G T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|2/13|c.367C>A|p.Gln123Lys|526/3041|367/1743|123/580||,T|missense_variant&splice_region_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|2/12|c.367C>A|p.Gln123Lys|526/2749|367/1335|123/444||,T|missense_variant&splice_region_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|3/14|c.367C>A|p.Gln123Lys|629/3141|367/1740|123/579|| 22 33376709 . C T . . ANN=T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|1/12|c.312-22G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|1/11|c.312-22G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|2/13|c.312-22G>A|||||| 22 33376726 . C A . . ANN=A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|1/12|c.312-39G>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|1/11|c.312-39G>T||||||,A|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|2/13|c.312-39G>T|||||| 22 33402292 . C T . . ANN=T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_003490.3|Coding|1/12|c.311+45G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_133633.2|Coding|1/11|c.311+45G>A||||||,T|intron_variant|MODIFIER|SYN3|SYN3|transcript|NM_001135774.1|Coding|2/13|c.311+45G>A|||||| 22 33402504 . C A . . ANN=A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|1/13|c.144G>T|p.Leu48Leu|303/3041|144/1743|48/580||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|1/12|c.144G>T|p.Leu48Leu|303/2749|144/1335|48/444||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|2/14|c.144G>T|p.Leu48Leu|406/3141|144/1740|48/579|| 22 33402516 . G A . . ANN=A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|1/13|c.132C>T|p.His44His|291/3041|132/1743|44/580||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|1/12|c.132C>T|p.His44His|291/2749|132/1335|44/444||,A|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|2/14|c.132C>T|p.His44His|394/3141|132/1740|44/579|| 22 33402579 . C T . . ANN=T|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_003490.3|Coding|1/13|c.69G>A|p.Thr23Thr|228/3041|69/1743|23/580||,T|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_133633.2|Coding|1/12|c.69G>A|p.Thr23Thr|228/2749|69/1335|23/444||,T|synonymous_variant|LOW|SYN3|SYN3|transcript|NM_001135774.1|Coding|2/14|c.69G>A|p.Thr23Thr|331/3141|69/1740|23/579|| 22 33402580 . G A . . ANN=A|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|1/13|c.68C>T|p.Thr23Met|227/3041|68/1743|23/580||,A|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|1/12|c.68C>T|p.Thr23Met|227/2749|68/1335|23/444||,A|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|2/14|c.68C>T|p.Thr23Met|330/3141|68/1740|23/579|| 22 33402604 . G A . . ANN=A|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_003490.3|Coding|1/13|c.44C>T|p.Ala15Val|203/3041|44/1743|15/580||,A|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_133633.2|Coding|1/12|c.44C>T|p.Ala15Val|203/2749|44/1335|15/444||,A|missense_variant|MODERATE|SYN3|SYN3|transcript|NM_001135774.1|Coding|2/14|c.44C>T|p.Ala15Val|306/3141|44/1740|15/579|| 22 33670584 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|16/16|c.2100C>T|p.Asn700Asn|2679/4201|2100/2271|700/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|15/15|c.2100C>T|p.Asn700Asn|2616/4138|2100/2271|700/756|| 22 33673010 . G A . . ANN=A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|15/15|c.2073+36C>T||||||,A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|14/14|c.2073+36C>T|||||| 22 33673104 . C T . . ANN=T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|15/16|c.2015G>A|p.Arg672Gln|2594/4201|2015/2271|672/756||,T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|14/15|c.2015G>A|p.Arg672Gln|2531/4138|2015/2271|672/756|| 22 33673118 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|15/16|c.2001C>T|p.Cys667Cys|2580/4201|2001/2271|667/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|14/15|c.2001C>T|p.Cys667Cys|2517/4138|2001/2271|667/756|| 22 33673125 . C T . . ANN=T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|15/16|c.1994G>A|p.Arg665His|2573/4201|1994/2271|665/756||,T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|14/15|c.1994G>A|p.Arg665His|2510/4138|1994/2271|665/756|| 22 33673170 . C T . . ANN=T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|15/16|c.1949G>A|p.Arg650Gln|2528/4201|1949/2271|650/756||,T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|14/15|c.1949G>A|p.Arg650Gln|2465/4138|1949/2271|650/756|| 22 33673191 . C T . . ANN=T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|15/16|c.1928G>A|p.Arg643Gln|2507/4201|1928/2271|643/756||,T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|14/15|c.1928G>A|p.Arg643Gln|2444/4138|1928/2271|643/756|| 22 33673252 . C A . . ANN=A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|14/15|c.1878-11G>T||||||,A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|13/14|c.1878-11G>T|||||| 22 33679157 . C T . . ANN=T|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|14/15|c.1877+31G>A||||||,T|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|13/14|c.1877+31G>A|||||| 22 33679238 . T C . . ANN=C|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|14/16|c.1827A>G|p.Ser609Ser|2406/4201|1827/2271|609/756||,C|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|13/15|c.1827A>G|p.Ser609Ser|2343/4138|1827/2271|609/756|| 22 33679277 . C T . . ANN=T|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|14/16|c.1788G>A|p.Ala596Ala|2367/4201|1788/2271|596/756||,T|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|13/15|c.1788G>A|p.Ala596Ala|2304/4138|1788/2271|596/756|| 22 33679319 . C T . . ANN=T|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|14/16|c.1746G>A|p.Gln582Gln|2325/4201|1746/2271|582/756||,T|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|13/15|c.1746G>A|p.Gln582Gln|2262/4138|1746/2271|582/756|| 22 33679358 . A G . . ANN=G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|13/15|c.1731-24T>C||||||,G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|12/14|c.1731-24T>C|||||| 22 33700270 . T C . . ANN=C|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|13/16|c.1675A>G|p.Met559Val|2254/4201|1675/2271|559/756||,C|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|12/15|c.1675A>G|p.Met559Val|2191/4138|1675/2271|559/756|| 22 33700289 . C G . . ANN=G|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|13/16|c.1656G>C|p.Lys552Asn|2235/4201|1656/2271|552/756||,G|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|12/15|c.1656G>C|p.Lys552Asn|2172/4138|1656/2271|552/756|| 22 33700346 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|13/16|c.1599C>T|p.Ile533Ile|2178/4201|1599/2271|533/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|12/15|c.1599C>T|p.Ile533Ile|2115/4138|1599/2271|533/756|| 22 33700360 . C T . . ANN=T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|13/16|c.1585G>A|p.Val529Met|2164/4201|1585/2271|529/756||,T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|12/15|c.1585G>A|p.Val529Met|2101/4138|1585/2271|529/756|| 22 33700367 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|13/16|c.1578C>T|p.Arg526Arg|2157/4201|1578/2271|526/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|12/15|c.1578C>T|p.Arg526Arg|2094/4138|1578/2271|526/756|| 22 33700397 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|13/16|c.1548C>T|p.Tyr516Tyr|2127/4201|1548/2271|516/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|12/15|c.1548C>T|p.Tyr516Tyr|2064/4138|1548/2271|516/756|| 22 33700521 . G A . . ANN=A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|12/15|c.1452-28C>T||||||,A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|11/14|c.1452-28C>T|||||| 22 33712033 . G A . . ANN=A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|12/15|c.1451+38C>T||||||,A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|11/14|c.1451+38C>T|||||| 22 33733597 . C T . . ANN=T|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|11/15|c.1287+35G>A||||||,T|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|10/14|c.1287+35G>A|||||| 22 33733609 . G T . . ANN=T|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|11/15|c.1287+23C>A||||||,T|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|10/14|c.1287+23C>A|||||| 22 33733678 . C T . . ANN=T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|11/16|c.1241G>A|p.Arg414Gln|1820/4201|1241/2271|414/756||,T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|10/15|c.1241G>A|p.Arg414Gln|1757/4138|1241/2271|414/756|| 22 33733797 . A G . . ANN=G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|10/15|c.1132-10T>C||||||,G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|9/14|c.1132-10T>C|||||| 22 33777874 . A G . . ANN=G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|10/15|c.1131+31T>C||||||,G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|9/14|c.1131+31T>C|||||| 22 33777923 . T C . . ANN=C|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|10/16|c.1113A>G|p.Arg371Arg|1692/4201|1113/2271|371/756||,C|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|9/15|c.1113A>G|p.Arg371Arg|1629/4138|1113/2271|371/756|| 22 33778028 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|10/16|c.1008T>C|p.Asp336Asp|1587/4201|1008/2271|336/756||,G|splice_region_variant&synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|9/15|c.1008T>C|p.Asp336Asp|1524/4138|1008/2271|336/756|| 22 33780167 . T C . . ANN=C|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|9/15|c.1005+11A>G||||||,C|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|8/14|c.1005+11A>G|||||| 22 33780264 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|9/16|c.919C>T|p.Leu307Leu|1498/4201|919/2271|307/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|8/15|c.919C>T|p.Leu307Leu|1435/4138|919/2271|307/756|| 22 33780307 . G C . . ANN=C|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|8/15|c.893-17C>G||||||,C|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|7/14|c.893-17C>G|||||| 22 33828097 . G A . . ANN=A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|8/15|c.892+50C>T||||||,A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|7/14|c.892+50C>T|||||| 22 33828280 . T C . . ANN=C|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|7/15|c.788-29A>G||||||,C|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|6/14|c.788-29A>G|||||| 22 33960913 . C T . . ANN=T|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|7/16|c.708G>A|p.Glu236Glu|1287/4201|708/2271|236/756||,T|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|6/15|c.708G>A|p.Glu236Glu|1224/4138|708/2271|236/756|| 22 33961043 . GA G . . ANN=G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|6/15|c.616-39delT||||||,G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|5/14|c.616-39delT|||||| 22 34000460 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|6/16|c.576C>T|p.Pro192Pro|1155/4201|576/2271|192/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|5/15|c.576C>T|p.Pro192Pro|1092/4138|576/2271|192/756|| 22 34000484 . C T . . ANN=T|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|6/16|c.552G>A|p.Thr184Thr|1131/4201|552/2271|184/756||,T|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|5/15|c.552G>A|p.Thr184Thr|1068/4138|552/2271|184/756|| 22 34022179 . G A . . ANN=A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|5/15|c.491+49C>T||||||,A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|4/14|c.491+49C>T|||||| 22 34022219 . T C . . ANN=C|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|5/15|c.491+9A>G||||||,C|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|4/14|c.491+9A>G|||||| 22 34022284 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|5/16|c.435C>T|p.Ala145Ala|1014/4201|435/2271|145/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|4/15|c.435C>T|p.Ala145Ala|951/4138|435/2271|145/756|| 22 34022302 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|5/16|c.417C>T|p.His139His|996/4201|417/2271|139/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|4/15|c.417C>T|p.His139His|933/4138|417/2271|139/756|| 22 34022349 . C G,T . . ANN=G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|4/15|c.409-39G>C||||||,T|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|4/15|c.409-39G>A||||||,G|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|3/14|c.409-39G>C||||||,T|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|3/14|c.409-39G>A|||||| 22 34046311 . G A . . ANN=A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|4/15|c.408+42C>T||||||,A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|3/14|c.408+42C>T|||||| 22 34046345 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|4/15|c.408+8G>A||||||,T|splice_region_variant&intron_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|3/14|c.408+8G>A|||||| 22 34046410 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.351C>T|p.Gly117Gly|930/4201|351/2271|117/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.351C>T|p.Gly117Gly|867/4138|351/2271|117/756|| 22 34046452 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.309C>T|p.Ser103Ser|888/4201|309/2271|103/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.309C>T|p.Ser103Ser|825/4138|309/2271|103/756|| 22 34046458 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.303C>T|p.Thr101Thr|882/4201|303/2271|101/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.303C>T|p.Thr101Thr|819/4138|303/2271|101/756|| 22 34046550 . C T . . ANN=T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.211G>A|p.Glu71Lys|790/4201|211/2271|71/756||,T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.211G>A|p.Glu71Lys|727/4138|211/2271|71/756|| 22 34046551 . G A . . ANN=A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.210C>T|p.Arg70Arg|789/4201|210/2271|70/756||,A|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.210C>T|p.Arg70Arg|726/4138|210/2271|70/756|| 22 34046582 . C T . . ANN=T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.179G>A|p.Arg60Gln|758/4201|179/2271|60/756||,T|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.179G>A|p.Arg60Gln|695/4138|179/2271|60/756|| 22 34046596 . C G . . ANN=G|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.165G>C|p.Thr55Thr|744/4201|165/2271|55/756||,G|synonymous_variant|LOW|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.165G>C|p.Thr55Thr|681/4138|165/2271|55/756|| 22 34046598 . T C . . ANN=C|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.163A>G|p.Thr55Ala|742/4201|163/2271|55/756||,C|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.163A>G|p.Thr55Ala|679/4138|163/2271|55/756|| 22 34046643 . C G . . ANN=G|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_004737.4|Coding|4/16|c.118G>C|p.Val40Leu|697/4201|118/2271|40/756||,G|missense_variant|MODERATE|LARGE|LARGE|transcript|NM_133642.3|Coding|3/15|c.118G>C|p.Val40Leu|634/4138|118/2271|40/756|| 22 34046673 . G A . . ANN=A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|3/15|c.107-19C>T||||||,A|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|2/14|c.107-19C>T|||||| 22 34157311 . G GTTCCCT . . ANN=GTTCCCT|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|3/15|c.106+46_106+47insAGGGAA||||||,GTTCCCT|intron_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|2/14|c.106+46_106+47insAGGGAA|||||| 22 34157494 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|3/16|c.-31G>A|||||31|,T|5_prime_UTR_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|2/15|c.-31G>A|||||31| 22 34157496 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|LARGE|LARGE|transcript|NM_004737.4|Coding|3/16|c.-33G>A|||||33|,T|5_prime_UTR_variant|MODIFIER|LARGE|LARGE|transcript|NM_133642.3|Coding|2/15|c.-33G>A|||||33| 22 35463058 . CAG C . . ANN=|5_prime_UTR_variant|MODIFIER|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.-20_-19delAG|||||19|INFO_REALIGN_3_PRIME 22 35463162 . A G . . ANN=G|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.82A>G|p.Ser28Gly|1033/3383|82/738|28/245|| 22 35463167 . G A . . ANN=A|synonymous_variant|LOW|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.87G>A|p.Leu29Leu|1038/3383|87/738|29/245|| 22 35463179 . T C . . ANN=C|synonymous_variant|LOW|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.99T>C|p.Ile33Ile|1050/3383|99/738|33/245|| 22 35463184 . C T . . ANN=T|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.104C>T|p.Ala35Val|1055/3383|104/738|35/245|| 22 35463215 . T C . . ANN=C|synonymous_variant|LOW|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.135T>C|p.Asp45Asp|1086/3383|135/738|45/245|| 22 35463225 . C T . . ANN=T|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.145C>T|p.Pro49Ser|1096/3383|145/738|49/245|| 22 35463249 . C T . . ANN=T|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.169C>T|p.Pro57Ser|1120/3383|169/738|57/245|| 22 35463263 . G A . . ANN=A|synonymous_variant|LOW|ISX|ISX|transcript|NM_001008494.1|Coding|1/4|c.183G>A|p.Ala61Ala|1134/3383|183/738|61/245|| 22 35463333 . T G . . ANN=G|intron_variant|MODIFIER|ISX|ISX|transcript|NM_001008494.1|Coding|1/3|c.229+24T>G|||||| 22 35478486 . A C . . ANN=C|intron_variant|MODIFIER|ISX|ISX|transcript|NM_001008494.1|Coding|1/3|c.230-25A>C|||||| 22 35478518 . G A . . ANN=A|synonymous_variant|LOW|ISX|ISX|transcript|NM_001008494.1|Coding|2/4|c.237G>A|p.Arg79Arg|1188/3383|237/738|79/245|| 22 35478529 . G A . . ANN=A|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|2/4|c.248G>A|p.Arg83Gln|1199/3383|248/738|83/245|| 22 35478592 . C T . . ANN=T|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|2/4|c.311C>T|p.Thr104Ile|1262/3383|311/738|104/245|| 22 35478644 . C T . . ANN=T|synonymous_variant|LOW|ISX|ISX|transcript|NM_001008494.1|Coding|2/4|c.363C>T|p.Leu121Leu|1314/3383|363/738|121/245|| 22 35478645 . C G . . ANN=G|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|2/4|c.364C>G|p.Pro122Ala|1315/3383|364/738|122/245|| 22 35478688 . C T . . ANN=T|intron_variant|MODIFIER|ISX|ISX|transcript|NM_001008494.1|Coding|2/3|c.381+26C>T|||||| 22 35480400 . A T . . ANN=T|stop_gained|HIGH|ISX|ISX|transcript|NM_001008494.1|Coding|3/4|c.406A>T|p.Lys136*|1357/3383|406/738|136/245||;LOF=(ISX|ISX|1|1.00);NMD=(ISX|ISX|1|1.00) 22 35480407 . G A . . ANN=A|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|3/4|c.413G>A|p.Arg138Gln|1364/3383|413/738|138/245|| 22 35480422 . T C . . ANN=C|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|3/4|c.428T>C|p.Ile143Thr|1379/3383|428/738|143/245|| 22 35480467 . C T . . ANN=T|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|3/4|c.473C>T|p.Ala158Val|1424/3383|473/738|158/245|| 22 35481455 . G A . . ANN=A|synonymous_variant|LOW|ISX|ISX|transcript|NM_001008494.1|Coding|4/4|c.507G>A|p.Thr169Thr|1458/3383|507/738|169/245|| 22 35481461 . A C . . ANN=C|synonymous_variant|LOW|ISX|ISX|transcript|NM_001008494.1|Coding|4/4|c.513A>C|p.Thr171Thr|1464/3383|513/738|171/245|| 22 35481493 . C T . . ANN=T|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|4/4|c.545C>T|p.Thr182Met|1496/3383|545/738|182/245|| 22 35481505 . C T . . ANN=T|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|4/4|c.557C>T|p.Pro186Leu|1508/3383|557/738|186/245|| 22 35481661 . G T . . ANN=T|missense_variant|MODERATE|ISX|ISX|transcript|NM_001008494.1|Coding|4/4|c.713G>T|p.Gly238Val|1664/3383|713/738|238/245|| 22 35481711 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ISX|ISX|transcript|NM_001008494.1|Coding|4/4|c.*25G>A|||||25| 22 35658379 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|2/11|c.-5C>T|||||5|,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|2/12|n.170C>T|||||| 22 35659739 . C G . . ANN=G|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|3/10|c.181-50C>G||||||,G|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|3/11|n.355-50C>G|||||| 22 35659741 . G T . . ANN=T|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|3/10|c.181-48G>T||||||,T|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|3/11|n.355-48G>T|||||| 22 35659769 . C G . . ANN=G|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|3/10|c.181-20C>G||||||,G|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|3/11|n.355-20C>G|||||| 22 35659770 . A G . . ANN=G|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|3/10|c.181-19A>G||||||,G|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|3/11|n.355-19A>G|||||| 22 35660605 . C A . . ANN=A|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|4/10|c.260-36C>A||||||,A|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|5/11|n.549-36C>A|||||| 22 35660648 . G A . . ANN=A|synonymous_variant|LOW|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.267G>A|p.Ser89Ser|441/4136|267/1806|89/601||,A|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.556G>A|||||| 22 35660803 . C T . . ANN=T|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.422C>T|p.Ser141Leu|596/4136|422/1806|141/601||,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.711C>T|||||| 22 35660875 . G T . . ANN=T|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.494G>T|p.Gly165Val|668/4136|494/1806|165/601||,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.783G>T|||||| 22 35660888 . G A . . ANN=A|synonymous_variant|LOW|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.507G>A|p.Ser169Ser|681/4136|507/1806|169/601||,A|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.796G>A|||||| 22 35660939 . G T . . ANN=T|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.558G>T|p.Glu186Asp|732/4136|558/1806|186/601||,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.847G>T|||||| 22 35661087 . C T . . ANN=T|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.706C>T|p.Leu236Phe|880/4136|706/1806|236/601||,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.995C>T|||||| 22 35661127 . G A . . ANN=A|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.746G>A|p.Arg249Gln|920/4136|746/1806|249/601||,A|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.1035G>A|||||| 22 35661227 . T C . . ANN=C|synonymous_variant|LOW|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.846T>C|p.Leu282Leu|1020/4136|846/1806|282/601||,C|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.1135T>C|||||| 22 35661331 . A G . . ANN=G|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.950A>G|p.Lys317Arg|1124/4136|950/1806|317/601||,G|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.1239A>G|||||| 22 35661373 . A G . . ANN=G|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.992A>G|p.Lys331Arg|1166/4136|992/1806|331/601||,G|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.1281A>G|||||| 22 35661389 . G A . . ANN=A|synonymous_variant|LOW|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.1008G>A|p.Glu336Glu|1182/4136|1008/1806|336/601||,A|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.1297G>A|||||| 22 35661486 . G A . . ANN=A|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.1105G>A|p.Ala369Thr|1279/4136|1105/1806|369/601||,A|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.1394G>A|||||| 22 35661493 . C T . . ANN=T|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.1112C>T|p.Ala371Val|1286/4136|1112/1806|371/601||,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.1401C>T|||||| 22 35661560 . A G . . ANN=G|synonymous_variant|LOW|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/11|c.1179A>G|p.Lys393Lys|1353/4136|1179/1806|393/601||,G|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/12|n.1468A>G|||||| 22 35679951 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|5/10|c.1216-4T>C||||||,C|splice_region_variant&intron_variant|LOW|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|6/11|n.1505-4T>C|||||| 22 35680005 . C T . . ANN=T|synonymous_variant|LOW|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|6/11|c.1266C>T|p.Arg422Arg|1440/4136|1266/1806|422/601||,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|7/12|n.1555C>T|||||| 22 35683463 . C T . . ANN=T|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|8/10|c.1468+18C>T||||||,T|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|9/11|n.1757+18C>T|||||| 22 35683474 . C G . . ANN=G|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|8/10|c.1468+29C>G||||||,G|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|9/11|n.1757+29C>G|||||| 22 35684217 . T C . . ANN=C|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|8/10|c.1469-14T>C||||||,C|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|9/11|n.1758-14T>C|||||| 22 35684269 . C T . . ANN=T|missense_variant|MODERATE|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|9/11|c.1507C>T|p.Pro503Ser|1681/4136|1507/1806|503/601||,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|10/12|n.1796C>T|||||| 22 35689156 . T C . . ANN=C|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|10/10|c.1761+49T>C||||||,C|intron_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|11/11|n.2050+49T>C|||||| 22 35689682 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NM_001003681.2|Coding|11/11|c.*38C>T|||||38|,T|non_coding_exon_variant|MODIFIER|HMGXB4|HMGXB4|transcript|NR_027780.1|Noncoding|12/12|n.2133C>T|||||| 22 35695894 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|1/15|c.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|1/14|c.-28G>A|||||28|,A|5_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|1/15|c.-28G>A|||||28|,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|1/14|c.-48+523G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|1/15|n.98G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|1/14|n.98G>A|||||| 22 35695905 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|1/15|c.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|1/14|c.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|1/15|c.-17C>T|||||17|,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|1/14|c.-48+534C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|1/15|n.109C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|1/14|n.109C>T|||||| 22 35696014 . C G . . ANN=G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|1/14|c.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|1/14|c.-48+643C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|1/13|c.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|1/14|c.52+41C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|1/14|n.177+41C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|1/13|n.177+41C>G|||||| 22 35713916 . C T . . ANN=T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|2/15|c.99C>T|p.Asn33Asn|224/2392|99/1482|33/493||,T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|2/14|c.99C>T|p.Asn33Asn|224/2254|99/1344|33/447||,T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|2/15|c.99C>T|p.Asn33Asn|224/2389|99/1479|33/492||,T|5_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|2/15|c.-1C>T|||||1|,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|2/15|n.224C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|2/14|n.224C>T|||||| 22 35713931 . C T . . ANN=T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|2/15|c.114C>T|p.Asp38Asp|239/2392|114/1482|38/493||,T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|2/15|c.15C>T|p.Asp5Asp|166/2319|15/1383|5/460||,T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|2/14|c.114C>T|p.Asp38Asp|239/2254|114/1344|38/447||,T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|2/15|c.114C>T|p.Asp38Asp|239/2389|114/1479|38/492||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|2/15|n.239C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|2/14|n.239C>T|||||| 22 35713966 . C G . . ANN=G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|2/14|c.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|2/14|c.38+12C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|2/13|c.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|2/14|c.137+12C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|2/14|n.262+12C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|2/13|n.262+12C>G|||||| 22 35714004 . C T . . ANN=T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|2/14|c.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|2/14|c.38+50C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|2/13|c.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|2/14|c.137+50C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|2/14|n.262+50C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|2/13|n.262+50C>T|||||| 22 35717915 . C G . . ANN=G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|2/14|c.138-37C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|2/14|c.39-37C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|2/13|c.138-37C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|2/14|c.138-37C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|2/14|n.263-37C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|2/13|n.263-1077C>G|||||| 22 35717937 . T C . . ANN=C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|2/14|c.138-15T>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|2/14|c.39-15T>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|2/13|c.138-15T>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|2/14|c.138-15T>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|2/14|n.263-15T>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|2/13|n.263-1055T>C|||||| 22 35719010 . C T . . ANN=T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|3/14|c.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|3/14|c.118-11C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|3/13|c.217-11C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|3/14|c.217-11C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|4/15|n.360C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|3/14|n.281C>T|||||| 22 35719063 . G A . . ANN=A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|4/15|c.259G>A|p.Val87Met|384/2392|259/1482|87/493||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|4/15|c.160G>A|p.Val54Met|311/2319|160/1383|54/460||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|4/14|c.259G>A|p.Val87Met|384/2254|259/1344|87/447||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|4/15|c.259G>A|p.Val87Met|384/2389|259/1479|87/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|4/15|n.413G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|3/14|n.334G>A|||||| 22 35719515 . G A . . ANN=A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|5/15|c.393G>A|p.Ser131Ser|518/2392|393/1482|131/493||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|5/15|c.294G>A|p.Ser98Ser|445/2319|294/1383|98/460||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|5/15|c.393G>A|p.Ser131Ser|518/2389|393/1479|131/492||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|4/13|c.367-246G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|5/15|n.547G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|4/14|n.468G>A|||||| 22 35719663 . C G . . ANN=G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|5/14|c.501+40C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|5/14|c.402+40C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|4/13|c.367-98C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|5/14|c.501+40C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|5/14|n.655+40C>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|4/13|n.576+40C>G|||||| 22 35719725 . C T . . ANN=T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|5/14|c.502-36C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|5/14|c.403-36C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|4/13|c.367-36C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|5/14|c.502-36C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|5/14|n.656-36C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|4/13|n.577-36C>T|||||| 22 35719860 . C G . . ANN=G|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|6/15|c.601C>G|p.Pro201Ala|726/2392|601/1482|201/493||,G|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|6/15|c.502C>G|p.Pro168Ala|653/2319|502/1383|168/460||,G|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|5/14|c.466C>G|p.Pro156Ala|591/2254|466/1344|156/447||,G|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|6/15|c.601C>G|p.Pro201Ala|726/2389|601/1479|201/492||,G|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|6/15|n.755C>G||||||,G|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|5/14|n.676C>G|||||| 22 35719913 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|6/14|c.648+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|6/14|c.549+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|5/13|c.513+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|6/14|c.648+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NR_024194.1|Noncoding|6/14|n.802+6C>T||||||,T|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NR_024195.1|Noncoding|5/13|n.723+6C>T|||||| 22 35719954 . A G . . ANN=G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|6/14|c.648+47A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|6/14|c.549+47A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|5/13|c.513+47A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|6/14|c.648+47A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|6/14|n.802+47A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|5/13|n.723+47A>G|||||| 22 35723245 . G A . . ANN=A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|6/14|c.649-19G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|6/14|c.550-19G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|5/13|c.514-19G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|6/14|c.649-19G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|6/14|n.803-19G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|5/13|n.724-19G>A|||||| 22 35723320 . G A . . ANN=A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|7/15|c.705G>A|p.Ser235Ser|830/2392|705/1482|235/493||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|7/15|c.606G>A|p.Ser202Ser|757/2319|606/1383|202/460||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|6/14|c.570G>A|p.Ser190Ser|695/2254|570/1344|190/447||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|7/15|c.705G>A|p.Ser235Ser|830/2389|705/1479|235/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|7/15|n.859G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|6/14|n.780G>A|||||| 22 35723351 . G T . . ANN=T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|7/15|c.736G>T|p.Ala246Ser|861/2392|736/1482|246/493||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|7/15|c.637G>T|p.Ala213Ser|788/2319|637/1383|213/460||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|6/14|c.601G>T|p.Ala201Ser|726/2254|601/1344|201/447||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|7/15|c.736G>T|p.Ala246Ser|861/2389|736/1479|246/492||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|7/15|n.890G>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|6/14|n.811G>T|||||| 22 35726354 . G A . . ANN=A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|8/15|c.780G>A|p.Thr260Thr|905/2392|780/1482|260/493||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|8/15|c.681G>A|p.Thr227Thr|832/2319|681/1383|227/460||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|7/14|c.645G>A|p.Thr215Thr|770/2254|645/1344|215/447||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|8/15|c.780G>A|p.Thr260Thr|905/2389|780/1479|260/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|8/15|n.934G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|7/14|n.855G>A|||||| 22 35726376 . G A . . ANN=A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|8/15|c.802G>A|p.Val268Ile|927/2392|802/1482|268/493||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|8/15|c.703G>A|p.Val235Ile|854/2319|703/1383|235/460||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|7/14|c.667G>A|p.Val223Ile|792/2254|667/1344|223/447||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|8/15|c.802G>A|p.Val268Ile|927/2389|802/1479|268/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|8/15|n.956G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|7/14|n.877G>A|||||| 22 35726464 . G A . . ANN=A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|8/15|c.890G>A|p.Arg297His|1015/2392|890/1482|297/493||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|8/15|c.791G>A|p.Arg264His|942/2319|791/1383|264/460||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|7/14|c.755G>A|p.Arg252His|880/2254|755/1344|252/447||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|8/15|c.890G>A|p.Arg297His|1015/2389|890/1479|297/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|8/15|n.1044G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|7/14|n.965G>A|||||| 22 35728953 . C T . . ANN=T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|8/14|c.900-21C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|8/14|c.801-21C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|7/13|c.765-21C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|8/14|c.900-21C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|8/14|n.1054-21C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|7/13|n.975-21C>T|||||| 22 35729014 . GTCT G . . ANN=G|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|9/14|c.933+8_933+10delTCT||||||,G|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|9/14|c.834+8_834+10delTCT||||||,G|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|8/13|c.798+8_798+10delTCT||||||,G|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|9/14|c.933+8_933+10delTCT||||||,G|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NR_024194.1|Noncoding|9/14|n.1087+8_1087+10delTCT||||||,G|splice_region_variant&intron_variant|LOW|TOM1|TOM1|transcript|NR_024195.1|Noncoding|8/13|n.1008+8_1008+10delTCT|||||| 22 35730403 . G A . . ANN=A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|11/15|c.1110G>A|p.Ala370Ala|1235/2392|1110/1482|370/493||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|11/15|c.1011G>A|p.Ala337Ala|1162/2319|1011/1383|337/460||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|10/14|c.975G>A|p.Ala325Ala|1100/2254|975/1344|325/447||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|11/15|c.1110G>A|p.Ala370Ala|1235/2389|1110/1479|370/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|11/15|n.1264G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|10/14|n.1185G>A|||||| 22 35730426 . C T . . ANN=T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|11/15|c.1133C>T|p.Ala378Val|1258/2392|1133/1482|378/493||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|11/15|c.1034C>T|p.Ala345Val|1185/2319|1034/1383|345/460||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|10/14|c.998C>T|p.Ala333Val|1123/2254|998/1344|333/447||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|11/15|c.1133C>T|p.Ala378Val|1258/2389|1133/1479|378/492||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|11/15|n.1287C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|10/14|n.1208C>T|||||| 22 35730489 . C T . . ANN=T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|11/14|c.1148+48C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|11/14|c.1049+48C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|10/13|c.1013+48C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|11/14|c.1148+48C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|11/14|n.1302+48C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|10/13|n.1223+48C>T|||||| 22 35734666 . G C . . ANN=C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|11/14|c.1149-40G>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|11/14|c.1050-40G>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|10/13|c.1014-40G>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|11/14|c.1149-40G>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|11/14|n.1303-40G>C||||||,C|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|10/13|n.1224-40G>C|||||| 22 35734736 . C T . . ANN=T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|12/15|c.1179C>T|p.Asp393Asp|1304/2392|1179/1482|393/493||,T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|12/15|c.1080C>T|p.Asp360Asp|1231/2319|1080/1383|360/460||,T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|11/14|c.1044C>T|p.Asp348Asp|1169/2254|1044/1344|348/447||,T|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|12/15|c.1179C>T|p.Asp393Asp|1304/2389|1179/1479|393/492||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|12/15|n.1333C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|11/14|n.1254C>T|||||| 22 35734737 . G A . . ANN=A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|12/15|c.1180G>A|p.Gly394Ser|1305/2392|1180/1482|394/493||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|12/15|c.1081G>A|p.Gly361Ser|1232/2319|1081/1383|361/460||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|11/14|c.1045G>A|p.Gly349Ser|1170/2254|1045/1344|349/447||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|12/15|c.1180G>A|p.Gly394Ser|1305/2389|1180/1479|394/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|12/15|n.1334G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|11/14|n.1255G>A|||||| 22 35741733 . G C . . ANN=C|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|13/15|c.1240G>C|p.Ala414Pro|1365/2392|1240/1482|414/493||,C|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|13/15|c.1141G>C|p.Ala381Pro|1292/2319|1141/1383|381/460||,C|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|12/14|c.1105G>C|p.Ala369Pro|1230/2254|1105/1344|369/447||,C|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|13/15|c.1240G>C|p.Ala414Pro|1365/2389|1240/1479|414/492||,C|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|13/15|n.1394G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|12/14|n.1315G>C|||||| 22 35741765 . G A . . ANN=A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|13/15|c.1272G>A|p.Leu424Leu|1397/2392|1272/1482|424/493||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|13/15|c.1173G>A|p.Leu391Leu|1324/2319|1173/1383|391/460||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|12/14|c.1137G>A|p.Leu379Leu|1262/2254|1137/1344|379/447||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|13/15|c.1272G>A|p.Leu424Leu|1397/2389|1272/1479|424/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|13/15|n.1426G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|12/14|n.1347G>A|||||| 22 35741816 . A G . . ANN=G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|13/14|c.1284+39A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|13/14|c.1185+39A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|12/13|c.1149+39A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|13/14|c.1284+39A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|13/14|n.1438+39A>G||||||,G|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|12/13|n.1359+39A>G|||||| 22 35741820 . G A . . ANN=A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|13/14|c.1284+43G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|13/14|c.1185+43G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|12/13|c.1149+43G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|13/14|c.1284+43G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|13/14|n.1438+43G>A||||||,A|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|12/13|n.1359+43G>A|||||| 22 35741823 . G T . . ANN=T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|13/14|c.1284+46G>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|13/14|c.1185+46G>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|12/13|c.1149+46G>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|13/14|c.1284+46G>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|13/14|n.1438+46G>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|12/13|n.1359+46G>T|||||| 22 35742886 . C T . . ANN=T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|13/14|c.1285-37C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|13/14|c.1186-37C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|12/13|c.1150-37C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|13/14|c.1285-37C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|13/14|n.1439-37C>T||||||,T|intron_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|12/13|n.1360-37C>T|||||| 22 35742925 . T G . . ANN=G|splice_region_variant&synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|14/15|c.1287T>G|p.Gly429Gly|1412/2392|1287/1482|429/493||,G|splice_region_variant&synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|14/15|c.1188T>G|p.Gly396Gly|1339/2319|1188/1383|396/460||,G|splice_region_variant&synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|13/14|c.1152T>G|p.Gly384Gly|1277/2254|1152/1344|384/447||,G|splice_region_variant&synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|14/15|c.1287T>G|p.Gly429Gly|1412/2389|1287/1479|429/492||,G|splice_region_variant&non_coding_exon_variant|LOW|TOM1|TOM1|transcript|NR_024194.1|Noncoding|14/15|n.1441T>G||||||,G|splice_region_variant&non_coding_exon_variant|LOW|TOM1|TOM1|transcript|NR_024195.1|Noncoding|13/14|n.1362T>G|||||| 22 35742933 . C T . . ANN=T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|14/15|c.1295C>T|p.Ala432Val|1420/2392|1295/1482|432/493||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|14/15|c.1196C>T|p.Ala399Val|1347/2319|1196/1383|399/460||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|13/14|c.1160C>T|p.Ala387Val|1285/2254|1160/1344|387/447||,T|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|14/15|c.1295C>T|p.Ala432Val|1420/2389|1295/1479|432/492||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|14/15|n.1449C>T||||||,T|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|13/14|n.1370C>T|||||| 22 35743090 . G A . . ANN=A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135732.1|Coding|15/15|c.1370G>A|p.Arg457Gln|1495/2392|1370/1482|457/493||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135729.1|Coding|15/15|c.1271G>A|p.Arg424Gln|1422/2319|1271/1383|424/460||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_001135730.1|Coding|14/14|c.1232G>A|p.Arg411Gln|1357/2254|1232/1344|411/447||,A|missense_variant|MODERATE|TOM1|TOM1|transcript|NM_005488.2|Coding|15/15|c.1367G>A|p.Arg456Gln|1492/2389|1367/1479|456/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|15/15|n.1521G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|14/14|n.1442G>A|||||| 22 35743124 . G C . . ANN=C|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|15/15|c.1404G>C|p.Gly468Gly|1529/2392|1404/1482|468/493||,C|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|15/15|c.1305G>C|p.Gly435Gly|1456/2319|1305/1383|435/460||,C|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|14/14|c.1266G>C|p.Gly422Gly|1391/2254|1266/1344|422/447||,C|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|15/15|c.1401G>C|p.Gly467Gly|1526/2389|1401/1479|467/492||,C|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|15/15|n.1555G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|14/14|n.1476G>C|||||| 22 35743151 . G A . . ANN=A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|15/15|c.1431G>A|p.Ala477Ala|1556/2392|1431/1482|477/493||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|15/15|c.1332G>A|p.Ala444Ala|1483/2319|1332/1383|444/460||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|14/14|c.1293G>A|p.Ala431Ala|1418/2254|1293/1344|431/447||,A|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|15/15|c.1428G>A|p.Ala476Ala|1553/2389|1428/1479|476/492||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|15/15|n.1582G>A||||||,A|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|14/14|n.1503G>A|||||| 22 35743178 . T C . . ANN=C|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135732.1|Coding|15/15|c.1458T>C|p.Asp486Asp|1583/2392|1458/1482|486/493||,C|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135729.1|Coding|15/15|c.1359T>C|p.Asp453Asp|1510/2319|1359/1383|453/460||,C|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_001135730.1|Coding|14/14|c.1320T>C|p.Asp440Asp|1445/2254|1320/1344|440/447||,C|synonymous_variant|LOW|TOM1|TOM1|transcript|NM_005488.2|Coding|15/15|c.1455T>C|p.Asp485Asp|1580/2389|1455/1479|485/492||,C|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|15/15|n.1609T>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|14/14|n.1530T>C|||||| 22 35743203 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135732.1|Coding|15/15|c.*1G>C|||||1|,C|3_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135729.1|Coding|15/15|c.*1G>C|||||1|,C|3_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_001135730.1|Coding|14/14|c.*1G>C|||||1|,C|3_prime_UTR_variant|MODIFIER|TOM1|TOM1|transcript|NM_005488.2|Coding|15/15|c.*1G>C|||||1|,C|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024194.1|Noncoding|15/15|n.1634G>C||||||,C|non_coding_exon_variant|MODIFIER|TOM1|TOM1|transcript|NR_024195.1|Noncoding|14/14|n.1555G>C|||||| 22 35777149 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|HMOX1|HMOX1|transcript|NM_002133.2|Coding|1/5|c.-18G>T|||||18| 22 35777185 . G C . . ANN=C|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|1/5|c.19G>C|p.Asp7His|126/1590|19/867|7/288|| 22 35779124 . C A . . ANN=A|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|2/5|c.49C>A|p.Leu17Met|156/1590|49/867|17/288|| 22 35779162 . G T . . ANN=T|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|2/5|c.87G>T|p.Glu29Asp|194/1590|87/867|29/288|| 22 35779223 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|HMOX1|HMOX1|transcript|NM_002133.2|Coding|2/4|c.144+4T>C|||||| 22 35779254 . G T . . ANN=T|intron_variant|MODIFIER|HMOX1|HMOX1|transcript|NM_002133.2|Coding|2/4|c.144+35G>T|||||| 22 35782659 . C T . . ANN=T|intron_variant|MODIFIER|HMOX1|HMOX1|transcript|NM_002133.2|Coding|2/4|c.145-19C>T|||||| 22 35782755 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.222C>T|p.Phe74Phe|329/1590|222/867|74/288|| 22 35782786 . C T . . ANN=T|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.253C>T|p.Arg85Cys|360/1590|253/867|85/288|| 22 35782911 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.378C>T|p.Pro126Pro|485/1590|378/867|126/288|| 22 35782990 . A C . . ANN=C|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.457A>C|p.Lys153Gln|564/1590|457/867|153/288|| 22 35782991 . A T . . ANN=T|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.458A>T|p.Lys153Ile|565/1590|458/867|153/288|| 22 35782992 . A C . . ANN=C|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.459A>C|p.Lys153Asn|566/1590|459/867|153/288|| 22 35783085 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.552C>T|p.Ser184Ser|659/1590|552/867|184/288|| 22 35783110 . C T . . ANN=T|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.577C>T|p.Pro193Ser|684/1590|577/867|193/288|| 22 35783136 . A G . . ANN=G|synonymous_variant|LOW|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.603A>G|p.Glu201Glu|710/1590|603/867|201/288|| 22 35783149 . G T . . ANN=T|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.616G>T|p.Ala206Ser|723/1590|616/867|206/288|| 22 35783151 . G A . . ANN=A|synonymous_variant|LOW|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.618G>A|p.Ala206Ala|725/1590|618/867|206/288|| 22 35783154 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|HMOX1|transcript|NM_002133.2|Coding|3/5|c.621C>T|p.Phe207Phe|728/1590|621/867|207/288|| 22 35785982 . TC T . . ANN=T|intron_variant|MODIFIER|HMOX1|HMOX1|transcript|NM_002133.2|Coding|4/4|c.736+27delC|||||| 22 35786003 . GGACTTGGCTGTCT G . . ANN=G|intron_variant|MODIFIER|HMOX1|HMOX1|transcript|NM_002133.2|Coding|4/4|c.736+48_736+60delGACTTGGCTGTCT|||||| 22 35789421 . C T . . ANN=T|intron_variant|MODIFIER|HMOX1|HMOX1|transcript|NM_002133.2|Coding|4/4|c.737-40C>T|||||| 22 35789464 . C G . . ANN=G|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|5/5|c.740C>G|p.Ser247Cys|847/1590|740/867|247/288|| 22 35789560 . C T . . ANN=T|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|5/5|c.836C>T|p.Ala279Val|943/1590|836/867|279/288|| 22 35789584 . C G . . ANN=G|missense_variant|MODERATE|HMOX1|HMOX1|transcript|NM_002133.2|Coding|5/5|c.860C>G|p.Ala287Gly|967/1590|860/867|287/288|| 22 35789585 . C T . . ANN=T|synonymous_variant|LOW|HMOX1|HMOX1|transcript|NM_002133.2|Coding|5/5|c.861C>T|p.Ala287Ala|968/1590|861/867|287/288|| 22 35796398 . G C . . ANN=C|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|1/16|c.-8-26G>C|||||| 22 35796415 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|1/16|c.-8-9C>T|||||| 22 35796437 . G A . . ANN=A|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|2/17|c.6G>A|p.Ser2Ser|100/2546|6/2205|2/734|| 22 35796514 . A C . . ANN=C|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|2/17|c.83A>C|p.Lys28Thr|177/2546|83/2205|28/734|| 22 35796578 . G T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|2/17|c.147G>T|p.Thr49Thr|241/2546|147/2205|49/734|| 22 35796605 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|2/16|c.167+7C>T|||||| 22 35796622 . G C . . ANN=C|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|2/16|c.167+24G>C|||||| 22 35799185 . A G . . ANN=G|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|2/16|c.168-15A>G|||||| 22 35799213 . C T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|3/17|c.181C>T|p.Arg61Trp|275/2546|181/2205|61/734|| 22 35799299 . C T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|3/17|c.267C>T|p.Tyr89Tyr|361/2546|267/2205|89/734|| 22 35799345 . C A . . ANN=A|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|3/16|c.294+19C>A|||||| 22 35799447 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|4/17|c.335G>A|p.Arg112Gln|429/2546|335/2205|112/734|| 22 35799487 . G C . . ANN=C|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|4/17|c.375G>C|p.Gln125His|469/2546|375/2205|125/734|| 22 35799525 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|4/17|c.413G>A|p.Arg138His|507/2546|413/2205|138/734|| 22 35799542 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|4/16|c.423+7C>T|||||| 22 35799584 . C G . . ANN=G|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|4/16|c.423+49C>G|||||| 22 35802530 . G A . . ANN=A|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|4/16|c.424-16G>A|||||| 22 35802572 . G C . . ANN=C|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.450G>C|p.Lys150Asn|544/2546|450/2205|150/734|| 22 35802592 . C T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.470C>T|p.Ala157Val|564/2546|470/2205|157/734|| 22 35802621 . C T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.499C>T|p.Arg167Cys|593/2546|499/2205|167/734|| 22 35802650 . C A . . ANN=A|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.528C>A|p.Arg176Arg|622/2546|528/2205|176/734|| 22 35802659 . C G . . ANN=G|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.537C>G|p.Leu179Leu|631/2546|537/2205|179/734|| 22 35802661 . C G . . ANN=G|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.539C>G|p.Thr180Ser|633/2546|539/2205|180/734|| 22 35802675 . C T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.553C>T|p.Arg185Cys|647/2546|553/2205|185/734|| 22 35802686 . C T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.564C>T|p.Leu188Leu|658/2546|564/2205|188/734|| 22 35802718 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|5/17|c.596C>T|p.Thr199Ile|690/2546|596/2205|199/734|| 22 35804479 . G T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|6/17|c.675G>T|p.Gln225His|769/2546|675/2205|225/734|| 22 35804589 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|6/16|c.752+33C>T|||||| 22 35806700 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|6/16|c.753-37C>T|||||| 22 35806716 . TC T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|6/16|c.753-20delC|||||| 22 35806720 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|6/16|c.753-17C>T|||||| 22 35806756 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|7/17|c.772G>A|p.Val258Ile|866/2546|772/2205|258/734|| 22 35806815 . T C . . ANN=C|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|7/17|c.831T>C|p.Thr277Thr|925/2546|831/2205|277/734|| 22 35806821 . C T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|7/17|c.837C>T|p.Ser279Ser|931/2546|837/2205|279/734|| 22 35808484 . G A . . ANN=A|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|7/16|c.920-19G>A|||||| 22 35808550 . C T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|8/17|c.967C>T|p.Arg323Cys|1061/2546|967/2205|323/734|| 22 35808708 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|8/16|c.1091+34C>T|||||| 22 35809819 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|8/16|c.1092-49C>T|||||| 22 35809945 . T G . . ANN=G|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|9/17|c.1169T>G|p.Leu390Arg|1263/2546|1169/2205|390/734|| 22 35810001 . T C . . ANN=C|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|9/16|c.1203+22T>C|||||| 22 35810013 . T C . . ANN=C|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|9/16|c.1203+34T>C|||||| 22 35811830 . G C . . ANN=C|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|10/17|c.1212G>C|p.Thr404Thr|1306/2546|1212/2205|404/734|| 22 35811852 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|10/17|c.1234G>A|p.Ala412Thr|1328/2546|1234/2205|412/734|| 22 35811915 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|10/17|c.1297G>A|p.Ala433Thr|1391/2546|1297/2205|433/734|| 22 35812004 . G A . . ANN=A|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|10/16|c.1347+39G>A|||||| 22 35812342 . A G . . ANN=G|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|11/17|c.1358A>G|p.Asp453Gly|1452/2546|1358/2205|453/734|| 22 35812389 . A G . . ANN=G|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|11/17|c.1405A>G|p.Ile469Val|1499/2546|1405/2205|469/734|| 22 35812408 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|11/16|c.1413+11C>T|||||| 22 35812441 . G C . . ANN=C|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|11/16|c.1413+44G>C|||||| 22 35812781 . G T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|12/17|c.1564G>T|p.Asp522Tyr|1658/2546|1564/2205|522/734|| 22 35812789 . C T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|12/17|c.1572C>T|p.His524His|1666/2546|1572/2205|524/734|| 22 35813718 . T C . . ANN=C|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|12/16|c.1591-19T>C|||||| 22 35813766 . C T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|13/17|c.1620C>T|p.His540His|1714/2546|1620/2205|540/734|| 22 35813767 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|13/17|c.1621G>A|p.Val541Met|1715/2546|1621/2205|541/734|| 22 35813772 . C G . . ANN=G|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|13/17|c.1626C>G|p.Ser542Arg|1720/2546|1626/2205|542/734|| 22 35813809 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|13/17|c.1663G>A|p.Asp555Asn|1757/2546|1663/2205|555/734|| 22 35815831 . A G . . ANN=G|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|13/16|c.1704-46A>G|||||| 22 35815852 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|13/16|c.1704-25C>T|||||| 22 35815873 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|13/16|c.1704-4G>T|||||| 22 35815880 . G A . . ANN=A|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|14/17|c.1707G>A|p.Lys569Lys|1801/2546|1707/2205|569/734|| 22 35815954 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|14/17|c.1781G>A|p.Arg594His|1875/2546|1781/2205|594/734|| 22 35815978 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|14/17|c.1805G>A|p.Arg602His|1899/2546|1805/2205|602/734|| 22 35815980 . C T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|14/17|c.1807C>T|p.Arg603Cys|1901/2546|1807/2205|603/734|| 22 35816015 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|14/16|c.1832+10C>T|||||| 22 35817329 . G T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|15/17|c.1851G>T|p.Val617Val|1945/2546|1851/2205|617/734|| 22 35817403 . G A . . ANN=A|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|15/17|c.1925G>A|p.Arg642Gln|2019/2546|1925/2205|642/734|| 22 35817471 . C A . . ANN=A|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|15/16|c.1975+18C>A|||||| 22 35819166 . T C . . ANN=C|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|15/16|c.1976-41T>C|||||| 22 35819180 . G A . . ANN=A|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|15/16|c.1976-27G>A|||||| 22 35819186 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|15/16|c.1976-21C>T|||||| 22 35819193 . C T . . ANN=T|intron_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|15/16|c.1976-14C>T|||||| 22 35819250 . C T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|16/17|c.2019C>T|p.Ser673Ser|2113/2546|2019/2205|673/734|| 22 35819284 . A G . . ANN=G|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|16/17|c.2053A>G|p.Ile685Val|2147/2546|2053/2205|685/734|| 22 35819310 . C T . . ANN=T|synonymous_variant|LOW|MCM5|MCM5|transcript|NM_006739.3|Coding|16/17|c.2079C>T|p.Ser693Ser|2173/2546|2079/2205|693/734|| 22 35820152 . C A . . ANN=A|stop_gained|HIGH|MCM5|MCM5|transcript|NM_006739.3|Coding|17/17|c.2109C>A|p.Tyr703*|2203/2546|2109/2205|703/734|| 22 35820175 . T C . . ANN=C|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|17/17|c.2132T>C|p.Val711Ala|2226/2546|2132/2205|711/734|| 22 35820195 . C T . . ANN=T|missense_variant|MODERATE|MCM5|MCM5|transcript|NM_006739.3|Coding|17/17|c.2152C>T|p.Arg718Cys|2246/2546|2152/2205|718/734|| 22 35820254 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MCM5|MCM5|transcript|NM_006739.3|Coding|17/17|c.*6G>A|||||6| 22 35942878 . G A . . ANN=A|missense_variant|MODERATE|RASD2|RASD2|transcript|NM_014310.3|Coding|2/3|c.22G>A|p.Gly8Arg|227/2972|22/801|8/266|| 22 35947523 . C T . . ANN=T|intron_variant|MODIFIER|RASD2|RASD2|transcript|NM_014310.3|Coding|2/2|c.272-27C>T|||||| 22 35947576 . C T . . ANN=T|synonymous_variant|LOW|RASD2|RASD2|transcript|NM_014310.3|Coding|3/3|c.298C>T|p.Leu100Leu|503/2972|298/801|100/266|| 22 35947585 . C A . . ANN=A|synonymous_variant|LOW|RASD2|RASD2|transcript|NM_014310.3|Coding|3/3|c.307C>A|p.Arg103Arg|512/2972|307/801|103/266|| 22 35947908 . C T . . ANN=T|synonymous_variant|LOW|RASD2|RASD2|transcript|NM_014310.3|Coding|3/3|c.630C>T|p.Asp210Asp|835/2972|630/801|210/266|| 22 35947974 . G A . . ANN=A|synonymous_variant|LOW|RASD2|RASD2|transcript|NM_014310.3|Coding|3/3|c.696G>A|p.Ser232Ser|901/2972|696/801|232/266|| 22 35948082 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RASD2|RASD2|transcript|NM_014310.3|Coding|3/3|c.*3G>A|||||3| 22 35948120 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RASD2|RASD2|transcript|NM_014310.3|Coding|3/3|c.*41G>A|||||41| 22 36003390 . C T . . ANN=T|missense_variant|MODERATE|MB|MB|transcript|NM_005368.2|Coding|3/3|c.419G>A|p.Arg140Gln|499/1078|419/465|140/154||,T|missense_variant|MODERATE|MB|MB|transcript|NM_203378.1|Coding|4/4|c.419G>A|p.Arg140Gln|574/1153|419/465|140/154||,T|missense_variant|MODERATE|MB|MB|transcript|NM_203377.1|Coding|4/4|c.419G>A|p.Arg140Gln|591/1170|419/465|140/154|| 22 36003482 . C T . . ANN=T|synonymous_variant|LOW|MB|MB|transcript|NM_005368.2|Coding|3/3|c.327G>A|p.Ser109Ser|407/1078|327/465|109/154||,T|synonymous_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|4/4|c.327G>A|p.Ser109Ser|482/1153|327/465|109/154||,T|synonymous_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|4/4|c.327G>A|p.Ser109Ser|499/1170|327/465|109/154|| 22 36006922 . T TG . . ANN=TG|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_005368.2|Coding|2/2|c.318+8_318+9insC||||||,TG|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|3/3|c.318+8_318+9insC||||||,TG|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|3/3|c.318+8_318+9insC|||||| 22 36006923 . G GC . . ANN=GC|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_005368.2|Coding|2/2|c.318+7_318+8insG||||||,GC|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|3/3|c.318+7_318+8insG||||||,GC|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|3/3|c.318+7_318+8insG|||||| 22 36006924 . C CA . . ANN=CA|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_005368.2|Coding|2/2|c.318+6_318+7insT||||||,CA|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|3/3|c.318+6_318+7insT||||||,CA|splice_region_variant&intron_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|3/3|c.318+6_318+7insT|||||| 22 36006952 . C T . . ANN=T|synonymous_variant|LOW|MB|MB|transcript|NM_005368.2|Coding|2/3|c.297G>A|p.Lys99Lys|377/1078|297/465|99/154||,T|synonymous_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|3/4|c.297G>A|p.Lys99Lys|452/1153|297/465|99/154||,T|synonymous_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|3/4|c.297G>A|p.Lys99Lys|469/1170|297/465|99/154|| 22 36007037 . G T . . ANN=T|missense_variant|MODERATE|MB|MB|transcript|NM_005368.2|Coding|2/3|c.212C>A|p.Thr71Asn|292/1078|212/465|71/154||,T|missense_variant|MODERATE|MB|MB|transcript|NM_203378.1|Coding|3/4|c.212C>A|p.Thr71Asn|367/1153|212/465|71/154||,T|missense_variant|MODERATE|MB|MB|transcript|NM_203377.1|Coding|3/4|c.212C>A|p.Thr71Asn|384/1170|212/465|71/154|| 22 36007045 . G A . . ANN=A|synonymous_variant|LOW|MB|MB|transcript|NM_005368.2|Coding|2/3|c.204C>T|p.Thr68Thr|284/1078|204/465|68/154||,A|synonymous_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|3/4|c.204C>T|p.Thr68Thr|359/1153|204/465|68/154||,A|synonymous_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|3/4|c.204C>T|p.Thr68Thr|376/1170|204/465|68/154|| 22 36007075 . C T . . ANN=T|synonymous_variant|LOW|MB|MB|transcript|NM_005368.2|Coding|2/3|c.174G>A|p.Ala58Ala|254/1078|174/465|58/154||,T|synonymous_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|3/4|c.174G>A|p.Ala58Ala|329/1153|174/465|58/154||,T|synonymous_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|3/4|c.174G>A|p.Ala58Ala|346/1170|174/465|58/154|| 22 36013290 . G A . . ANN=A|synonymous_variant|LOW|MB|MB|transcript|NM_005368.2|Coding|1/3|c.15C>T|p.Asp5Asp|95/1078|15/465|5/154||,A|synonymous_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|2/4|c.15C>T|p.Asp5Asp|170/1153|15/465|5/154||,A|synonymous_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|2/4|c.15C>T|p.Asp5Asp|187/1170|15/465|5/154|| 22 36013312 . T A . . ANN=A|splice_region_variant|LOW|MB|MB|transcript|NM_203378.1|Coding|2/4|c.-8A>T||||||,A|splice_region_variant|LOW|MB|MB|transcript|NM_203377.1|Coding|2/4|c.-8A>T||||||,A|5_prime_UTR_variant|MODIFIER|MB|MB|transcript|NM_005368.2|Coding|1/3|c.-8A>T|||||8|,A|5_prime_UTR_variant|MODIFIER|MB|MB|transcript|NM_203378.1|Coding|2/4|c.-8A>T|||||8|,A|5_prime_UTR_variant|MODIFIER|MB|MB|transcript|NM_203377.1|Coding|2/4|c.-8A>T|||||8| 22 36054612 . T G . . ANN=G|intron_variant|MODIFIER|APOL6|APOL6|transcript|NM_030641.3|Coding|2/2|c.51-50T>G|||||| 22 36054741 . A G . . ANN=G|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.130A>G|p.Arg44Gly|424/10139|130/1032|44/343|| 22 36054806 . C T . . ANN=T|synonymous_variant|LOW|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.195C>T|p.Asp65Asp|489/10139|195/1032|65/343|| 22 36054846 . A G . . ANN=G|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.235A>G|p.Met79Val|529/10139|235/1032|79/343|| 22 36054862 . C T . . ANN=T|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.251C>T|p.Thr84Ile|545/10139|251/1032|84/343|| 22 36054874 . C G . . ANN=G|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.263C>G|p.Ser88Cys|557/10139|263/1032|88/343|| 22 36054944 . C T . . ANN=T|synonymous_variant|LOW|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.333C>T|p.Thr111Thr|627/10139|333/1032|111/343|| 22 36054945 . G A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.334G>A|p.Ala112Thr|628/10139|334/1032|112/343|| 22 36054997 . C T . . ANN=T|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.386C>T|p.Thr129Met|680/10139|386/1032|129/343|| 22 36055005 . C T . . ANN=T|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.394C>T|p.Arg132Cys|688/10139|394/1032|132/343|| 22 36055033 . G A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.422G>A|p.Arg141Gln|716/10139|422/1032|141/343|| 22 36055036 . C T . . ANN=T|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.425C>T|p.Ala142Val|719/10139|425/1032|142/343|| 22 36055077 . G A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.466G>A|p.Asp156Asn|760/10139|466/1032|156/343|| 22 36055130 . T A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.519T>A|p.Asn173Lys|813/10139|519/1032|173/343|| 22 36055141 . C A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.530C>A|p.Thr177Asn|824/10139|530/1032|177/343|| 22 36055164 . G A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.553G>A|p.Val185Ile|847/10139|553/1032|185/343|| 22 36055218 . C T . . ANN=T|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.607C>T|p.Arg203Cys|901/10139|607/1032|203/343|| 22 36055255 . G A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.644G>A|p.Arg215His|938/10139|644/1032|215/343|| 22 36055265 . G A . . ANN=A|synonymous_variant|LOW|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.654G>A|p.Val218Val|948/10139|654/1032|218/343|| 22 36055281 . G A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.670G>A|p.Gly224Arg|964/10139|670/1032|224/343|| 22 36055406 . A C . . ANN=C|synonymous_variant|LOW|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.795A>C|p.Thr265Thr|1089/10139|795/1032|265/343|| 22 36055415 . G A . . ANN=A|synonymous_variant|LOW|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.804G>A|p.Ala268Ala|1098/10139|804/1032|268/343|| 22 36055428 . G A . . ANN=A|missense_variant|MODERATE|APOL6|APOL6|transcript|NM_030641.3|Coding|3/3|c.817G>A|p.Ala273Thr|1111/10139|817/1032|273/343|| 22 36113928 . G T . . ANN=T|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|1/5|c.10G>T|p.Gly4Cys|10/1437|10/1302|4/433|| 22 36116565 . G A . . ANN=A|intron_variant|MODIFIER|APOL5|APOL5|transcript|NM_030642.1|Coding|1/4|c.56-50G>A|||||| 22 36116593 . C T . . ANN=T|intron_variant|MODIFIER|APOL5|APOL5|transcript|NM_030642.1|Coding|1/4|c.56-22C>T|||||| 22 36116618 . TG T . . ANN=|frameshift_variant|HIGH|APOL5|APOL5|transcript|NM_030642.1|Coding|2/5|c.62delG|p.Gly21fs|62/1437|62/1302|21/433||INFO_REALIGN_3_PRIME 22 36116661 . C T . . ANN=T|synonymous_variant|LOW|APOL5|APOL5|transcript|NM_030642.1|Coding|2/5|c.102C>T|p.Tyr34Tyr|102/1437|102/1302|34/433|| 22 36116694 . T G . . ANN=G|synonymous_variant|LOW|APOL5|APOL5|transcript|NM_030642.1|Coding|2/5|c.135T>G|p.Pro45Pro|135/1437|135/1302|45/433|| 22 36116702 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|APOL5|APOL5|transcript|NM_030642.1|Coding|2/4|c.142+1G>A||||||;LOF=(APOL5|APOL5|1|1.00) 22 36122265 . C T . . ANN=T|synonymous_variant|LOW|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.150C>T|p.Leu50Leu|150/1437|150/1302|50/433|| 22 36122356 . G A . . ANN=A|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.241G>A|p.Glu81Lys|241/1437|241/1302|81/433|| 22 36122365 . C T . . ANN=T|stop_gained|HIGH|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.250C>T|p.Arg84*|250/1437|250/1302|84/433||;LOF=(APOL5|APOL5|1|1.00);NMD=(APOL5|APOL5|1|1.00) 22 36122380 . T A . . ANN=A|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.265T>A|p.Ser89Thr|265/1437|265/1302|89/433|| 22 36122414 . A C . . ANN=C|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.299A>C|p.Lys100Thr|299/1437|299/1302|100/433|| 22 36122427 . A G . . ANN=G|synonymous_variant|LOW|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.312A>G|p.Ser104Ser|312/1437|312/1302|104/433|| 22 36122433 . T C . . ANN=C|synonymous_variant|LOW|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.318T>C|p.Phe106Phe|318/1437|318/1302|106/433|| 22 36122501 . C A . . ANN=A|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.386C>A|p.Thr129Asn|386/1437|386/1302|129/433|| 22 36122517 . T C . . ANN=C|synonymous_variant|LOW|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.402T>C|p.Leu134Leu|402/1437|402/1302|134/433|| 22 36122724 . C A . . ANN=A|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.609C>A|p.Ser203Arg|609/1437|609/1302|203/433|| 22 36122751 . T G . . ANN=G|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.636T>G|p.His212Gln|636/1437|636/1302|212/433|| 22 36122811 . G A . . ANN=A|synonymous_variant|LOW|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.696G>A|p.Lys232Lys|696/1437|696/1302|232/433|| 22 36122930 . C T . . ANN=T|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.815C>T|p.Thr272Met|815/1437|815/1302|272/433|| 22 36123083 . C T . . ANN=T|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.968C>T|p.Thr323Met|968/1437|968/1302|323/433|| 22 36123178 . A G . . ANN=G|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.1063A>G|p.Ser355Gly|1063/1437|1063/1302|355/433|| 22 36123215 . G A . . ANN=A|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|3/5|c.1100G>A|p.Arg367Gln|1100/1437|1100/1302|367/433|| 22 36123268 . G A . . ANN=A|intron_variant|MODIFIER|APOL5|APOL5|transcript|NM_030642.1|Coding|3/4|c.1126+27G>A|||||| 22 36123276 . G A . . ANN=A|intron_variant|MODIFIER|APOL5|APOL5|transcript|NM_030642.1|Coding|3/4|c.1126+35G>A|||||| 22 36124810 . G T . . ANN=T|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|4/5|c.1167G>T|p.Gln389His|1167/1437|1167/1302|389/433|| 22 36124833 . C T . . ANN=T|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|4/5|c.1190C>T|p.Ala397Val|1190/1437|1190/1302|397/433|| 22 36124860 . C G . . ANN=G|missense_variant|MODERATE|APOL5|APOL5|transcript|NM_030642.1|Coding|4/5|c.1217C>G|p.Ser406Cys|1217/1437|1217/1302|406/433|| 22 36124889 . GC G . . ANN=|frameshift_variant|HIGH|APOL5|APOL5|transcript|NM_030642.1|Coding|4/5|c.1250delC|p.Pro417fs|1250/1437|1250/1302|417/433||INFO_REALIGN_3_PRIME 22 36124988 . C A . . ANN=A|intron_variant|MODIFIER|APOL5|APOL5|transcript|NM_030642.1|Coding|4/4|c.*6+37C>A|||||| 22 36140215 . TG T . . ANN=T|3_prime_UTR_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|14/14|c.*36delC|||||36|,T|3_prime_UTR_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|13/13|c.*36delC|||||36|,T|3_prime_UTR_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|13/13|c.*36delC|||||36|,T|3_prime_UTR_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|12/12|c.*26delC|||||26|,T|3_prime_UTR_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|12/12|c.*26delC|||||26|,T|3_prime_UTR_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|14/14|c.*36delC|||||36| 22 36141926 . G A . . ANN=A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|13/13|c.1311+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|12/12|c.1098+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|12/12|c.1086+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|11/11|c.1058+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|11/11|c.1049+44C>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|13/13|c.1308+44C>T|||||| 22 36142076 . A G . . ANN=G|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|12/13|c.1239-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|11/12|c.1026-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|11/12|c.1014-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|10/11|c.986-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|10/11|c.977-34T>C||||||,G|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|12/13|c.1236-34T>C|||||| 22 36155894 . C T . . ANN=T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|10/13|c.1109+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|9/12|c.896+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|9/12|c.884+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|9/11|c.896+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|9/11|c.887+41G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|10/13|c.1106+41G>A|||||| 22 36155901 . T C . . ANN=C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|10/13|c.1109+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|9/12|c.896+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|9/12|c.884+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|9/11|c.896+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|9/11|c.887+34A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|10/13|c.1106+34A>G|||||| 22 36156071 . A C . . ANN=C|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|10/14|c.973T>G|p.Leu325Val|1085/6937|973/1356|325/451||,C|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|9/13|c.760T>G|p.Leu254Val|1125/6977|760/1143|254/380||,C|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|9/12|c.760T>G|p.Leu254Val|1125/6937|760/1113|254/370||,C|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|10/14|c.970T>G|p.Leu324Val|1082/6934|970/1353|324/450||,C|splice_region_variant&intron_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|8/12|c.752-4T>G||||||,C|splice_region_variant&intron_variant|LOW|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|8/11|c.755-4T>G|||||| 22 36157224 . T C . . ANN=C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|9/13|c.964+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|8/12|c.751+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|8/12|c.751+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|8/11|c.751+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|8/11|c.754+25A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|9/13|c.961+25A>G|||||| 22 36157319 . C T . . ANN=T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|9/14|c.894G>A|p.Val298Val|1006/6937|894/1356|298/451||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|8/13|c.681G>A|p.Val227Val|1046/6977|681/1143|227/380||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|8/13|c.681G>A|p.Val227Val|1046/6965|681/1131|227/376||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|8/12|c.681G>A|p.Val227Val|1046/6937|681/1113|227/370||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|8/12|c.684G>A|p.Val228Val|1049/6928|684/1104|228/367||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|9/14|c.891G>A|p.Val297Val|1003/6934|891/1353|297/450|| 22 36157348 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|8/13|c.872-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|7/12|c.659-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|7/12|c.659-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|7/11|c.659-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|7/11|c.662-7C>A||||||,T|splice_region_variant&intron_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|8/13|c.869-7C>A|||||| 22 36164325 . C G . . ANN=G|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|6/14|c.735G>C|p.Val245Val|847/6937|735/1356|245/451||,G|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|5/13|c.522G>C|p.Val174Val|887/6977|522/1143|174/380||,G|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|5/13|c.522G>C|p.Val174Val|887/6965|522/1131|174/376||,G|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|5/12|c.522G>C|p.Val174Val|887/6937|522/1113|174/370||,G|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|5/12|c.525G>C|p.Val175Val|890/6928|525/1104|175/367||,G|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|6/14|c.732G>C|p.Val244Val|844/6934|732/1353|244/450|| 22 36164375 . C G . . ANN=G|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|6/14|c.685G>C|p.Glu229Gln|797/6937|685/1356|229/451||,G|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|5/13|c.472G>C|p.Glu158Gln|837/6977|472/1143|158/380||,G|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|5/13|c.472G>C|p.Glu158Gln|837/6965|472/1131|158/376||,G|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|5/12|c.472G>C|p.Glu158Gln|837/6937|472/1113|158/370||,G|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|5/12|c.475G>C|p.Glu159Gln|840/6928|475/1104|159/367||,G|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|6/14|c.682G>C|p.Glu228Gln|794/6934|682/1353|228/450|| 22 36164434 . C T . . ANN=T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|5/13|c.664-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|4/12|c.451-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|4/12|c.451-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|4/11|c.451-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|4/11|c.454-38G>A||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|5/13|c.661-38G>A|||||| 22 36174023 . T C . . ANN=C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|5/13|c.663+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|4/12|c.450+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|4/12|c.450+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|4/11|c.450+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|4/11|c.453+49A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|5/13|c.660+49A>G|||||| 22 36174157 . T C . . ANN=C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|4/13|c.610-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|3/12|c.397-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|3/12|c.397-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|3/11|c.397-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|3/11|c.400-32A>G||||||,C|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|4/13|c.607-32A>G|||||| 22 36177713 . C T . . ANN=T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|4/14|c.543G>A|p.Pro181Pro|655/6937|543/1356|181/451||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|3/13|c.330G>A|p.Pro110Pro|695/6977|330/1143|110/380||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|3/13|c.330G>A|p.Pro110Pro|695/6965|330/1131|110/376||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|3/12|c.330G>A|p.Pro110Pro|695/6937|330/1113|110/370||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|3/12|c.333G>A|p.Pro111Pro|698/6928|333/1104|111/367||,T|synonymous_variant|LOW|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|4/14|c.540G>A|p.Pro180Pro|652/6934|540/1353|180/450|| 22 36205806 . TTCACC T . . ANN=T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|3/13|c.462+16_462+20delGGTGA||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|2/12|c.252+16_252+20delGGTGA||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|2/12|c.252+16_252+20delGGTGA||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|2/11|c.252+16_252+20delGGTGA||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|2/11|c.252+16_252+20delGGTGA||||||,T|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|3/13|c.462+16_462+20delGGTGA|||||| 22 36205818 . T A . . ANN=A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|3/13|c.462+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|2/12|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|2/12|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|2/11|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|2/11|c.252+9A>T||||||,A|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|3/13|c.462+9A>T|||||| 22 36205891 . C T . . ANN=T|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|3/14|c.398G>A|p.Gly133Glu|510/6937|398/1356|133/451||,T|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001031695.2|Coding|2/13|c.188G>A|p.Gly63Glu|553/6977|188/1143|63/380||,T|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082576.1|Coding|2/13|c.188G>A|p.Gly63Glu|553/6965|188/1131|63/376||,T|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082577.1|Coding|2/12|c.188G>A|p.Gly63Glu|553/6937|188/1113|63/370||,T|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_014309.2|Coding|2/12|c.188G>A|p.Gly63Glu|553/6928|188/1104|63/367||,T|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|3/14|c.398G>A|p.Gly133Glu|510/6934|398/1353|133/450|| 22 36424247 . C G . . ANN=G|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|1/13|c.186+41G>C||||||,G|intron_variant|MODIFIER|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|1/13|c.186+41G>C|||||| 22 36424450 . A C . . ANN=C|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082578.1|Coding|1/14|c.24T>G|p.His8Gln|136/6937|24/1356|8/451||,C|missense_variant|MODERATE|RBFOX2|RBFOX2|transcript|NM_001082579.1|Coding|1/14|c.24T>G|p.His8Gln|136/6934|24/1353|8/450|| 22 36537200 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.*48C>T|||||48|,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1621C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1505C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.1392C>T|||||| 22 36537222 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.*26G>C|||||26|,G|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.*26G>C|||||26|,G|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.*26G>C|||||26|,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1599G>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1483G>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.1370G>C|||||| 22 36537237 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.*11G>C|||||11|,G|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.*11G>C|||||11|,G|3_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.*11G>C|||||11|,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1584G>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1468G>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.1355G>C|||||| 22 36537292 . G A . . ANN=A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.1165C>T|p.Leu389Phe|1203/2124|1165/1209|389/402||,A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.565C>T|p.Leu189Phe|2712/3633|565/609|189/202||,A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.565C>T|p.Leu189Phe|2649/3570|565/609|189/202||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1529C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1413C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.1300C>T|||||| 22 36537327 . C T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.1130G>A|p.Arg377Gln|1168/2124|1130/1209|377/402||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.530G>A|p.Arg177Gln|2677/3633|530/609|177/202||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.530G>A|p.Arg177Gln|2614/3570|530/609|177/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1494G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1378G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.1265G>A|||||| 22 36537500 . A T . . ANN=T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.957T>A|p.Gly319Gly|995/2124|957/1209|319/402||,T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.357T>A|p.Gly119Gly|2504/3633|357/609|119/202||,T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.357T>A|p.Gly119Gly|2441/3570|357/609|119/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1321T>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1205T>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.1092T>A|||||| 22 36537587 . G T . . ANN=T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.870C>A|p.Thr290Thr|908/2124|870/1209|290/402||,T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.270C>A|p.Thr90Thr|2417/3633|270/609|90/202||,T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.270C>A|p.Thr90Thr|2354/3570|270/609|90/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1234C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1118C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.1005C>A|||||| 22 36537645 . C T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.812G>A|p.Arg271His|850/2124|812/1209|271/402||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.212G>A|p.Arg71His|2359/3633|212/609|71/202||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.212G>A|p.Arg71His|2296/3570|212/609|71/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1176G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1060G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.947G>A|||||| 22 36537646 . G A . . ANN=A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.811C>T|p.Arg271Cys|849/2124|811/1209|271/402||,A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.211C>T|p.Arg71Cys|2358/3633|211/609|71/202||,A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.211C>T|p.Arg71Cys|2295/3570|211/609|71/202||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1175C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1059C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.946C>T|||||| 22 36537671 . T G . . ANN=G|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.786A>C|p.Arg262Arg|824/2124|786/1209|262/402||,G|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.186A>C|p.Arg62Arg|2333/3633|186/609|62/202||,G|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.186A>C|p.Arg62Arg|2270/3570|186/609|62/202||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1150A>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.1034A>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.921A>C|||||| 22 36537725 . G A . . ANN=A|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.732C>T|p.Tyr244Tyr|770/2124|732/1209|244/402||,A|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.132C>T|p.Tyr44Tyr|2279/3633|132/609|44/202||,A|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.132C>T|p.Tyr44Tyr|2216/3570|132/609|44/202||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1096C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.980C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.867C>T|||||| 22 36537736 . C T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.721G>A|p.Glu241Lys|759/2124|721/1209|241/402||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.121G>A|p.Glu41Lys|2268/3633|121/609|41/202||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.121G>A|p.Glu41Lys|2205/3570|121/609|41/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1085G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.969G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.856G>A|||||| 22 36537740 . G A . . ANN=A|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.717C>T|p.Ile239Ile|755/2124|717/1209|239/402||,A|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.117C>T|p.Ile39Ile|2264/3633|117/609|39/202||,A|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.117C>T|p.Ile39Ile|2201/3570|117/609|39/202||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1081C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.965C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.852C>T|||||| 22 36537763 . C T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.694G>A|p.Val232Met|732/2124|694/1209|232/402||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.94G>A|p.Val32Met|2241/3633|94/609|32/202||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.94G>A|p.Val32Met|2178/3570|94/609|32/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1058G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.942G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.829G>A|||||| 22 36537775 . C T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.682G>A|p.Ala228Thr|720/2124|682/1209|228/402||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.82G>A|p.Ala28Thr|2229/3633|82/609|28/202||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.82G>A|p.Ala28Thr|2166/3570|82/609|28/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1046G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.930G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.817G>A|||||| 22 36537798 . G A . . ANN=A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.659C>T|p.Thr220Ile|697/2124|659/1209|220/402||,A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.59C>T|p.Thr20Ile|2206/3633|59/609|20/202||,A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.59C>T|p.Thr20Ile|2143/3570|59/609|20/202||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1023C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.907C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.794C>T|||||| 22 36537812 . C T . . ANN=T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.645G>A|p.Thr215Thr|683/2124|645/1209|215/402||,T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.45G>A|p.Thr15Thr|2192/3633|45/609|15/202||,T|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.45G>A|p.Thr15Thr|2129/3570|45/609|15/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.1009G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.893G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.780G>A|||||| 22 36537832 . C T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.625G>A|p.Ala209Thr|663/2124|625/1209|209/402||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.25G>A|p.Ala9Thr|2172/3633|25/609|9/202||,T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.25G>A|p.Ala9Thr|2109/3570|25/609|9/202||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.989G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.873G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.760G>A|||||| 22 36537865 . A G . . ANN=G|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.592T>C|p.Ser198Pro|630/2124|592/1209|198/402||,G|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.-9T>C|||||9|,G|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.-9T>C|||||9|,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.956T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.840T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.727T>C|||||| 22 36537871 . C T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.586G>A|p.Ala196Thr|624/2124|586/1209|196/402||,T|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.-15G>A|||||15|,T|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.-15G>A|||||15|,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.950G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.834G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.721G>A|||||| 22 36537893 . A G . . ANN=G|synonymous_variant|LOW|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.564T>C|p.Asn188Asn|602/2124|564/1209|188/402||,G|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.-37T>C|||||37|,G|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.-37T>C|||||37|,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.928T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.812T>C||||||,G|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.699T>C|||||| 22 36538053 . G A . . ANN=A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|3/3|c.404C>T|p.Ala135Val|442/2124|404/1209|135/402||,A|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|5/5|c.-197C>T|||||197|,A|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|4/4|c.-197C>T|||||197|,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|4/4|n.768C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|5/5|n.652C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|4/4|n.539C>T|||||| 22 36541511 . C T . . ANN=T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145640.2|Coding|2/2|c.350+10G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|3/3|n.714+10G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|4/4|n.598+10G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|3/3|n.485+10G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|4/4|c.-251+10G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|3/3|c.-251+10G>A|||||| 22 36541567 . T C . . ANN=C|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|2/3|c.304A>G|p.Asn102Asp|342/2124|304/1209|102/402||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|4/5|c.-297A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|3/4|c.-297A>G||||||,C|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|4/5|c.-297A>G|||||3711|,C|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|3/4|c.-297A>G|||||3711|,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|3/4|n.668A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|4/5|n.552A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|3/4|n.439A>G|||||| 22 36556698 . C T . . ANN=T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145640.2|Coding|1/2|c.223+19G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|1/3|n.261+19G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|1/4|n.261+19G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|1/3|n.261+19G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|3/4|c.-378+19G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|2/3|c.-378+19G>A|||||| 22 36556729 . T C . . ANN=C|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|1/3|c.211A>G|p.Arg71Gly|249/2124|211/1209|71/402||,C|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|3/5|c.-390A>G|||||18873|,C|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|2/4|c.-390A>G|||||18873|,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|1/4|n.249A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|1/5|n.249A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|1/4|n.249A>G|||||| 22 36556768 . G A . . ANN=A|stop_gained|HIGH|APOL3|APOL3|transcript|NM_145640.2|Coding|1/3|c.172C>T|p.Gln58*|210/2124|172/1209|58/402||,A|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|3/5|c.-429C>T|||||18912|,A|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|2/4|c.-429C>T|||||18912|,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|1/4|n.210C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|1/5|n.210C>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|1/4|n.210C>T||||||;LOF=(APOL3|APOL3|6|0.17);NMD=(APOL3|APOL3|6|0.17) 22 36556780 . C T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|1/3|c.160G>A|p.Val54Met|198/2124|160/1209|54/402||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|3/5|c.-441G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|2/4|c.-441G>A||||||,T|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|3/5|c.-441G>A|||||18924|,T|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|2/4|c.-441G>A|||||18924|,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|1/4|n.198G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|1/5|n.198G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|1/4|n.198G>A|||||| 22 36556823 . G T . . ANN=T|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|1/3|c.117C>A|p.Ser39Arg|155/2124|117/1209|39/402||,T|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|3/5|c.-484C>A|||||18967|,T|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|2/4|c.-484C>A|||||18967|,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|1/4|n.155C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|1/5|n.155C>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|1/4|n.155C>A|||||| 22 36556836 . C A . . ANN=A|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|1/3|c.104G>T|p.Gly35Val|142/2124|104/1209|35/402||,A|splice_region_variant|LOW|APOL3|APOL3|transcript|NM_145641.2|Coding|3/5|c.-497G>T||||||,A|splice_region_variant|LOW|APOL3|APOL3|transcript|NM_145642.2|Coding|2/4|c.-497G>T||||||,A|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|3/5|c.-497G>T|||||18980|,A|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|2/4|c.-497G>T|||||18980|,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|1/4|n.142G>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|1/5|n.142G>T||||||,A|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|1/4|n.142G>T|||||| 22 36556864 . T C . . ANN=C|missense_variant|MODERATE|APOL3|APOL3|transcript|NM_145640.2|Coding|1/3|c.76A>G|p.Thr26Ala|114/2124|76/1209|26/402||,C|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|2/4|c.-498-27A>G||||||,C|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|1/3|c.-498-27A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|1/4|n.114A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|1/5|n.114A>G||||||,C|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|1/4|n.114A>G|||||| 22 36556964 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|APOL3|APOL3|transcript|NM_145640.2|Coding|1/3|c.-25G>A|||||25|,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145641.2|Coding|2/4|c.-498-127G>A||||||,T|intron_variant|MODIFIER|APOL3|APOL3|transcript|NM_145642.2|Coding|1/3|c.-498-127G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027833.1|Noncoding|1/4|n.14G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027834.1|Noncoding|1/5|n.14G>A||||||,T|non_coding_exon_variant|MODIFIER|APOL3|APOL3|transcript|NR_027835.1|Noncoding|1/4|n.14G>A|||||| 22 36623415 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.*35C>T|||||35|,A|3_prime_UTR_variant|MODIFIER|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.*35C>T|||||35| 22 36623672 . G A . . ANN=A|synonymous_variant|LOW|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.792C>T|p.Pro264Pro|1128/2545|792/1014|264/337||,A|synonymous_variant|LOW|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.792C>T|p.Pro264Pro|1269/2686|792/1014|264/337|| 22 36623731 . T C . . ANN=C|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.733A>G|p.Ile245Val|1069/2545|733/1014|245/337||,C|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.733A>G|p.Ile245Val|1210/2686|733/1014|245/337|| 22 36623902 . C T . . ANN=T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.562G>A|p.Gly188Ser|898/2545|562/1014|188/337||,T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.562G>A|p.Gly188Ser|1039/2686|562/1014|188/337|| 22 36623920 . G A . . ANN=A|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.544C>T|p.Arg182Cys|880/2545|544/1014|182/337||,A|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.544C>T|p.Arg182Cys|1021/2686|544/1014|182/337|| 22 36623931 . C T . . ANN=T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.533G>A|p.Arg178Gln|869/2545|533/1014|178/337||,T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.533G>A|p.Arg178Gln|1010/2686|533/1014|178/337|| 22 36623956 . C T . . ANN=T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.508G>A|p.Glu170Lys|844/2545|508/1014|170/337||,T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.508G>A|p.Glu170Lys|985/2686|508/1014|170/337|| 22 36623980 . C T . . ANN=T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.484G>A|p.Ala162Thr|820/2545|484/1014|162/337||,T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.484G>A|p.Ala162Thr|961/2686|484/1014|162/337|| 22 36624123 . G A . . ANN=A|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.341C>T|p.Thr114Ile|677/2545|341/1014|114/337||,A|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.341C>T|p.Thr114Ile|818/2686|341/1014|114/337|| 22 36624231 . C T . . ANN=T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.233G>A|p.Arg78Lys|569/2545|233/1014|78/337||,T|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.233G>A|p.Arg78Lys|710/2686|233/1014|78/337|| 22 36624310 . G A . . ANN=A|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|5/5|c.154C>T|p.Leu52Phe|490/2545|154/1014|52/337||,A|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|6/6|c.154C>T|p.Leu52Phe|631/2686|154/1014|52/337|| 22 36627349 . C T . . ANN=T|intron_variant|MODIFIER|APOL2|APOL2|transcript|NM_030882.2|Coding|4/4|c.137+37G>A||||||,T|intron_variant|MODIFIER|APOL2|APOL2|transcript|NM_145637.1|Coding|5/5|c.137+37G>A|||||| 22 36627380 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|APOL2|APOL2|transcript|NM_030882.2|Coding|4/4|c.137+6C>T||||||,A|splice_region_variant&intron_variant|LOW|APOL2|APOL2|transcript|NM_145637.1|Coding|5/5|c.137+6C>T|||||| 22 36627504 . T C . . ANN=C|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_030882.2|Coding|4/5|c.19A>G|p.Ile7Val|355/2545|19/1014|7/337||,C|missense_variant|MODERATE|APOL2|APOL2|transcript|NM_145637.1|Coding|5/6|c.19A>G|p.Ile7Val|496/2686|19/1014|7/337|| 22 36627521 . AAAG A . . ANN=A|intron_variant|MODIFIER|APOL2|APOL2|transcript|NM_030882.2|Coding|3/4|c.11-12_11-10delCTT||||||,A|intron_variant|MODIFIER|APOL2|APOL2|transcript|NM_145637.1|Coding|4/5|c.11-12_11-10delCTT|||||| 22 36629151 . A G . . ANN=G|intron_variant|MODIFIER|APOL2|APOL2|transcript|NM_030882.2|Coding|3/4|c.10+48T>C||||||,G|intron_variant|MODIFIER|APOL2|APOL2|transcript|NM_145637.1|Coding|4/5|c.10+48T>C|||||| 22 36629223 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|APOL2|APOL2|transcript|NM_030882.2|Coding|3/5|c.-15C>G|||||15|,C|5_prime_UTR_variant|MODIFIER|APOL2|APOL2|transcript|NM_145637.1|Coding|4/6|c.-15C>G|||||15| 22 36649965 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|2/7|c.-44G>A|||||44|,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|1/5|c.-59+700G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|1/4|c.-20+700G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|1/5|c.-20+700G>A|||||| 22 36649966 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|2/7|c.-43C>T|||||43|,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|1/5|c.-59+701C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|1/4|c.-20+701C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|1/5|c.-20+701C>T|||||| 22 36649967 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|2/7|c.-42G>A|||||42|,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|1/5|c.-59+702G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|1/4|c.-20+702G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|1/5|c.-20+702G>A|||||| 22 36649988 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|2/7|c.-21C>G|||||21|,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|1/5|c.-59+723C>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|1/4|c.-20+723C>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|1/5|c.-20+723C>G|||||| 22 36650004 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|2/7|c.-5C>T|||||5|,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|1/5|c.-59+739C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|1/4|c.-20+739C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|1/5|c.-20+739C>T|||||| 22 36650951 . A C . . ANN=C|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|2/6|c.-51A>C|||||51|,C|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|2/6|c.30-32A>C||||||,C|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|1/4|c.-19-32A>C||||||,C|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|1/5|c.-19-32A>C|||||| 22 36650956 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|2/6|c.-46G>A|||||46|,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|2/6|c.30-27G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|1/4|c.-19-27G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|1/5|c.-19-27G>A|||||| 22 36650962 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|2/6|c.-40A>G|||||40|,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|2/6|c.30-21A>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|1/4|c.-19-21A>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|1/5|c.-19-21A>G|||||| 22 36650998 . C T . . ANN=T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|3/7|c.45C>T|p.Ser15Ser|319/3017|45/1245|15/414||,T|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|2/6|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|2/5|c.-4C>T|||||4|,T|5_prime_UTR_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|2/6|c.-4C>T|||||4| 22 36651066 . T A . . ANN=A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|3/6|c.92+21T>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|2/5|c.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|2/4|c.44+21T>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|2/5|c.44+21T>A|||||| 22 36651089 . G A . . ANN=A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|3/6|c.92+44G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|2/5|c.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|2/4|c.44+44G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|2/5|c.44+44G>A|||||| 22 36653091 . GC G . . ANN=G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|3/6|c.93-37delC||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|2/5|c.45-37delC||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|2/4|c.45-273delC||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|2/5|c.45-37delC|||||| 22 36653143 . T C . . ANN=C|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|4/7|c.107T>C|p.Phe36Ser|381/3017|107/1245|36/414||,C|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|3/6|c.59T>C|p.Phe20Ser|266/2902|59/1197|20/398||,C|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|3/6|c.59T>C|p.Phe20Ser|227/2863|59/1197|20/398||,C|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|2/4|c.45-222T>C|||||| 22 36657596 . A G . . ANN=G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|5/6|c.236-46A>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|4/5|c.188-46A>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|3/4|c.134-46A>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|4/5|c.188-46A>G|||||| 22 36657628 . T G . . ANN=G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|5/6|c.236-14T>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|4/5|c.188-14T>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|3/4|c.134-14T>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|4/5|c.188-14T>G|||||| 22 36657740 . G A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|6/7|c.334G>A|p.Gly112Arg|608/3017|334/1245|112/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|5/6|c.286G>A|p.Gly96Arg|493/2902|286/1197|96/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|4/5|c.232G>A|p.Gly78Arg|400/2809|232/1143|78/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|5/6|c.286G>A|p.Gly96Arg|454/2863|286/1197|96/398|| 22 36657789 . T C . . ANN=C|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|6/6|c.362+21T>C||||||,C|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|5/5|c.314+21T>C||||||,C|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|4/4|c.260+21T>C||||||,C|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|5/5|c.314+21T>C|||||| 22 36657806 . C CTA . . ANN=CTA|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|6/6|c.362+38_362+39insTA||||||,CTA|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|5/5|c.314+38_314+39insTA||||||,CTA|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|4/4|c.260+38_260+39insTA||||||,CTA|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|5/5|c.314+38_314+39insTA|||||| 22 36657814 . C T . . ANN=T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|6/6|c.362+46C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|5/5|c.314+46C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|4/4|c.260+46C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|5/5|c.314+46C>T|||||| 22 36661148 . C T . . ANN=T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|6/6|c.363-49C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|5/5|c.315-49C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|4/4|c.261-49C>T||||||,T|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|5/5|c.315-49C>T|||||| 22 36661149 . A G . . ANN=G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|6/6|c.363-48A>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|5/5|c.315-48A>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|4/4|c.261-48A>G||||||,G|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|5/5|c.315-48A>G|||||| 22 36661152 . G A . . ANN=A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_145343.2|Coding|6/6|c.363-45G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136540.1|Coding|5/5|c.315-45G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_001136541.1|Coding|4/4|c.261-45G>A||||||,A|intron_variant|MODIFIER|APOL1|APOL1|transcript|NM_003661.3|Coding|5/5|c.315-45G>A|||||| 22 36661190 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|6/6|c.363-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|5/5|c.315-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|4/4|c.261-7T>C||||||,C|splice_region_variant&intron_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|5/5|c.315-7T>C|||||| 22 36661200 . T C . . ANN=C|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.366T>C|p.Asn122Asn|640/3017|366/1245|122/414||,C|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.318T>C|p.Asn106Asn|525/2902|318/1197|106/398||,C|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.264T>C|p.Asn88Asn|432/2809|264/1143|88/380||,C|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.318T>C|p.Asn106Asn|486/2863|318/1197|106/398|| 22 36661222 . G A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.388G>A|p.Ala130Thr|662/3017|388/1245|130/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.340G>A|p.Ala114Thr|547/2902|340/1197|114/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.286G>A|p.Ala96Thr|454/2809|286/1143|96/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.340G>A|p.Ala114Thr|508/2863|340/1197|114/398|| 22 36661330 . G A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.496G>A|p.Glu166Lys|770/3017|496/1245|166/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.448G>A|p.Glu150Lys|655/2902|448/1197|150/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.394G>A|p.Glu132Lys|562/2809|394/1143|132/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.448G>A|p.Glu150Lys|616/2863|448/1197|150/398|| 22 36661354 . C T . . ANN=T|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.520C>T|p.Leu174Phe|794/3017|520/1245|174/414||,T|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.472C>T|p.Leu158Phe|679/2902|472/1197|158/398||,T|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.418C>T|p.Leu140Phe|586/2809|418/1143|140/380||,T|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.472C>T|p.Leu158Phe|640/2863|472/1197|158/398|| 22 36661409 . A G . . ANN=G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.575A>G|p.Asn192Ser|849/3017|575/1245|192/414||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.527A>G|p.Asn176Ser|734/2902|527/1197|176/398||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.473A>G|p.Asn158Ser|641/2809|473/1143|158/380||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.527A>G|p.Asn176Ser|695/2863|527/1197|176/398|| 22 36661455 . C T . . ANN=T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.621C>T|p.Leu207Leu|895/3017|621/1245|207/414||,T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.573C>T|p.Leu191Leu|780/2902|573/1197|191/398||,T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.519C>T|p.Leu173Leu|687/2809|519/1143|173/380||,T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.573C>T|p.Leu191Leu|741/2863|573/1197|191/398|| 22 36661536 . C A . . ANN=A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.702C>A|p.Ala234Ala|976/3017|702/1245|234/414||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.654C>A|p.Ala218Ala|861/2902|654/1197|218/398||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.600C>A|p.Ala200Ala|768/2809|600/1143|200/380||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.654C>A|p.Ala218Ala|822/2863|654/1197|218/398|| 22 36661566 . G A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.732G>A|p.Met244Ile|1006/3017|732/1245|244/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.684G>A|p.Met228Ile|891/2902|684/1197|228/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.630G>A|p.Met210Ile|798/2809|630/1143|210/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.684G>A|p.Met228Ile|852/2863|684/1197|228/398|| 22 36661646 . G A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.812G>A|p.Arg271Lys|1086/3017|812/1245|271/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.764G>A|p.Arg255Lys|971/2902|764/1197|255/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.710G>A|p.Arg237Lys|878/2809|710/1143|237/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.764G>A|p.Arg255Lys|932/2863|764/1197|255/398|| 22 36661649 . A G . . ANN=G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.815A>G|p.Glu272Gly|1089/3017|815/1245|272/414||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.767A>G|p.Glu256Gly|974/2902|767/1197|256/398||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.713A>G|p.Glu238Gly|881/2809|713/1143|238/380||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.767A>G|p.Glu256Gly|935/2863|767/1197|256/398|| 22 36661674 . C A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.840C>A|p.Asn280Lys|1114/3017|840/1245|280/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.792C>A|p.Asn264Lys|999/2902|792/1197|264/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.738C>A|p.Asn246Lys|906/2809|738/1143|246/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.792C>A|p.Asn264Lys|960/2863|792/1197|264/398|| 22 36661691 . G A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.857G>A|p.Gly286Asp|1131/3017|857/1245|286/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.809G>A|p.Gly270Asp|1016/2902|809/1197|270/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.755G>A|p.Gly252Asp|923/2809|755/1143|252/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.809G>A|p.Gly270Asp|977/2863|809/1197|270/398|| 22 36661733 . G A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.899G>A|p.Arg300His|1173/3017|899/1245|300/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.851G>A|p.Arg284His|1058/2902|851/1197|284/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.797G>A|p.Arg266His|965/2809|797/1143|266/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.851G>A|p.Arg284His|1019/2863|851/1197|284/398|| 22 36661744 . C A . . ANN=A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.910C>A|p.Arg304Arg|1184/3017|910/1245|304/414||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.862C>A|p.Arg288Arg|1069/2902|862/1197|288/398||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.808C>A|p.Arg270Arg|976/2809|808/1143|270/380||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.862C>A|p.Arg288Arg|1030/2863|862/1197|288/398|| 22 36661791 . C T . . ANN=T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.957C>T|p.Arg319Arg|1231/3017|957/1245|319/414||,T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.909C>T|p.Arg303Arg|1116/2902|909/1197|303/398||,T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.855C>T|p.Arg285Arg|1023/2809|855/1143|285/380||,T|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.909C>T|p.Arg303Arg|1077/2863|909/1197|303/398|| 22 36661842 . G A . . ANN=A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1008G>A|p.Arg336Arg|1282/3017|1008/1245|336/414||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.960G>A|p.Arg320Arg|1167/2902|960/1197|320/398||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.906G>A|p.Arg302Arg|1074/2809|906/1143|302/380||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.960G>A|p.Arg320Arg|1128/2863|960/1197|320/398|| 22 36661891 . G A . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1057G>A|p.Asp353Asn|1331/3017|1057/1245|353/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1009G>A|p.Asp337Asn|1216/2902|1009/1197|337/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.955G>A|p.Asp319Asn|1123/2809|955/1143|319/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1009G>A|p.Asp337Asn|1177/2863|1009/1197|337/398|| 22 36661906 . A G . . ANN=G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1072A>G|p.Ser358Gly|1346/3017|1072/1245|358/414||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1024A>G|p.Ser342Gly|1231/2902|1024/1197|342/398||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.970A>G|p.Ser324Gly|1138/2809|970/1143|324/380||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1024A>G|p.Ser342Gly|1192/2863|1024/1197|342/398|| 22 36661998 . G A . . ANN=A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1164G>A|p.Lys388Lys|1438/3017|1164/1245|388/414||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1116G>A|p.Lys372Lys|1323/2902|1116/1197|372/398||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.1062G>A|p.Lys354Lys|1230/2809|1062/1143|354/380||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1116G>A|p.Lys372Lys|1284/2863|1116/1197|372/398|| 22 36662041 . AATAATT A . . ANN=|disruptive_inframe_deletion|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1212_1217delTTATAA|p.Asn404_Tyr405del|1486/3017|1212/1245|404/414||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1164_1169delTTATAA|p.Asn388_Tyr389del|1371/2902|1164/1197|388/398||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.1110_1115delTTATAA|p.Asn370_Tyr371del|1278/2809|1110/1143|370/380||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1164_1169delTTATAA|p.Asn388_Tyr389del|1332/2863|1164/1197|388/398||INFO_REALIGN_3_PRIME 22 36662063 . C A,G,T . . ANN=A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1229C>A|p.Ala410Glu|1503/3017|1229/1245|410/414||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1229C>G|p.Ala410Gly|1503/3017|1229/1245|410/414||,T|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1229C>T|p.Ala410Val|1503/3017|1229/1245|410/414||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1181C>A|p.Ala394Glu|1388/2902|1181/1197|394/398||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1181C>G|p.Ala394Gly|1388/2902|1181/1197|394/398||,T|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1181C>T|p.Ala394Val|1388/2902|1181/1197|394/398||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.1127C>A|p.Ala376Glu|1295/2809|1127/1143|376/380||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.1127C>G|p.Ala376Gly|1295/2809|1127/1143|376/380||,T|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.1127C>T|p.Ala376Val|1295/2809|1127/1143|376/380||,A|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1181C>A|p.Ala394Glu|1349/2863|1181/1197|394/398||,G|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1181C>G|p.Ala394Gly|1349/2863|1181/1197|394/398||,T|missense_variant|MODERATE|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1181C>T|p.Ala394Val|1349/2863|1181/1197|394/398|| 22 36662064 . G A . . ANN=A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1230G>A|p.Ala410Ala|1504/3017|1230/1245|410/414||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1182G>A|p.Ala394Ala|1389/2902|1182/1197|394/398||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.1128G>A|p.Ala376Ala|1296/2809|1128/1143|376/380||,A|synonymous_variant|LOW|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1182G>A|p.Ala394Ala|1350/2863|1182/1197|394/398|| 22 36662068 . C T . . ANN=T|stop_gained|HIGH|APOL1|APOL1|transcript|NM_145343.2|Coding|7/7|c.1234C>T|p.Gln412*|1508/3017|1234/1245|412/414||,T|stop_gained|HIGH|APOL1|APOL1|transcript|NM_001136540.1|Coding|6/6|c.1186C>T|p.Gln396*|1393/2902|1186/1197|396/398||,T|stop_gained|HIGH|APOL1|APOL1|transcript|NM_001136541.1|Coding|5/5|c.1132C>T|p.Gln378*|1300/2809|1132/1143|378/380||,T|stop_gained|HIGH|APOL1|APOL1|transcript|NM_003661.3|Coding|6/6|c.1186C>T|p.Gln396*|1354/2863|1186/1197|396/398|| 22 36678704 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|41/41|c.*10C>T|||||10| 22 36678706 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|41/41|c.*8C>T|||||8| 22 36678779 . C T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|41/41|c.5818G>A|p.Gly1940Arg|6049/7505|5818/5883|1940/1960|| 22 36678782 . C T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|41/41|c.5815G>A|p.Ala1939Thr|6046/7505|5815/5883|1939/1960|| 22 36678816 . C A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|41/41|c.5781G>T|p.Pro1927Pro|6012/7505|5781/5883|1927/1960|| 22 36678833 . TG T . . ANN=T|splice_region_variant&intron_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|40/40|c.5766-3delC|||||| 22 36680124 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|40/40|c.5765+15C>T|||||| 22 36680130 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|40/40|c.5765+9C>T|||||| 22 36680162 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|40/41|c.5742C>T|p.Val1914Val|5973/7505|5742/5883|1914/1960|| 22 36680258 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|40/41|c.5646C>T|p.Ala1882Ala|5877/7505|5646/5883|1882/1960|| 22 36680325 . C A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|39/40|c.5593-14G>T|||||| 22 36680340 . C G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|39/40|c.5593-29G>C|||||| 22 36680358 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|39/40|c.5593-47C>T|||||| 22 36680470 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|39/41|c.5571C>T|p.Asn1857Asn|5802/7505|5571/5883|1857/1960|| 22 36681145 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|38/40|c.5483+22C>T|||||| 22 36681163 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|38/40|c.5483+4C>G|||||| 22 36681327 . T C . . ANN=C|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|38/41|c.5323A>G|p.Lys1775Glu|5554/7505|5323/5883|1775/1960|| 22 36681373 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|38/41|c.5277C>T|p.Ile1759Ile|5508/7505|5277/5883|1759/1960|| 22 36681384 . GA G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|37/40|c.5275-10delT|||||| 22 36681660 . T C . . ANN=C|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|37/40|c.5274+44A>G|||||| 22 36681797 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|37/41|c.5181G>A|p.Leu1727Leu|5412/7505|5181/5883|1727/1960|| 22 36681878 . T C . . ANN=C|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|36/40|c.5150+33A>G|||||| 22 36681918 . C T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|36/41|c.5143G>A|p.Gly1715Ser|5374/7505|5143/5883|1715/1960|| 22 36681988 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|36/41|c.5073C>T|p.Ala1691Ala|5304/7505|5073/5883|1691/1960|| 22 36682724 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|35/40|c.5061+40C>T|||||| 22 36682734 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|35/40|c.5061+30C>T|||||| 22 36682776 . G T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|35/41|c.5049C>A|p.Ile1683Ile|5280/7505|5049/5883|1683/1960|| 22 36682815 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|35/41|c.5010G>A|p.Glu1670Glu|5241/7505|5010/5883|1670/1960|| 22 36682873 . A G . . ANN=G|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|35/41|c.4952T>C|p.Met1651Thr|5183/7505|4952/5883|1651/1960|| 22 36684331 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|34/41|c.4899G>A|p.Arg1633Arg|5130/7505|4899/5883|1633/1960|| 22 36684354 . T C . . ANN=C|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|34/41|c.4876A>G|p.Ile1626Val|5107/7505|4876/5883|1626/1960|| 22 36684358 . C A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|34/41|c.4872G>T|p.Ala1624Ala|5103/7505|4872/5883|1624/1960|| 22 36684412 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|34/41|c.4818G>A|p.Ser1606Ser|5049/7505|4818/5883|1606/1960|| 22 36684430 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|34/41|c.4800C>T|p.Asp1600Asp|5031/7505|4800/5883|1600/1960|| 22 36684817 . G A . . ANN=A|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|33/41|c.4726C>T|p.Arg1576Trp|4957/7505|4726/5883|1576/1960|| 22 36684961 . G T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|33/41|c.4582C>A|p.Arg1528Arg|4813/7505|4582/5883|1528/1960|| 22 36684980 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|33/41|c.4563C>T|p.His1521His|4794/7505|4563/5883|1521/1960|| 22 36685018 . G C . . ANN=C|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|32/40|c.4558-33C>G|||||| 22 36685177 . G A . . ANN=A|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|32/41|c.4511C>T|p.Thr1504Met|4742/7505|4511/5883|1504/1960|| 22 36685292 . G A . . ANN=A|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|32/41|c.4396C>T|p.Arg1466Trp|4627/7505|4396/5883|1466/1960|| 22 36685297 . C T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|32/41|c.4391G>A|p.Arg1464His|4622/7505|4391/5883|1464/1960|| 22 36685329 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|32/41|c.4359G>A|p.Glu1453Glu|4590/7505|4359/5883|1453/1960|| 22 36685365 . TGAG T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|31/40|c.4345-25_4345-23delCTC|||||| 22 36688022 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|31/40|c.4344+10C>T|||||| 22 36688157 . C T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|31/41|c.4219G>A|p.Ala1407Thr|4450/7505|4219/5883|1407/1960|| 22 36688178 . G A . . ANN=A|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|31/41|c.4198C>T|p.Arg1400Trp|4429/7505|4198/5883|1400/1960|| 22 36688226 . C G . . ANN=G|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|31/41|c.4150G>C|p.Glu1384Gln|4381/7505|4150/5883|1384/1960|| 22 36688248 . A G . . ANN=G|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|31/41|c.4128T>C|p.Ser1376Ser|4359/7505|4128/5883|1376/1960|| 22 36688253 . C G . . ANN=G|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|31/41|c.4123G>C|p.Asp1375His|4354/7505|4123/5883|1375/1960|| 22 36688257 . C T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|31/41|c.4119G>A|p.Met1373Ile|4350/7505|4119/5883|1373/1960|| 22 36688296 . G T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|30/40|c.4096-16C>A|||||| 22 36689832 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|29/41|c.3915G>A|p.Ala1305Ala|4146/7505|3915/5883|1305/1960|| 22 36689833 . G A . . ANN=A|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|29/41|c.3914C>T|p.Ala1305Val|4145/7505|3914/5883|1305/1960|| 22 36689895 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|29/41|c.3852C>T|p.Asn1284Asn|4083/7505|3852/5883|1284/1960|| 22 36689917 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|28/40|c.3838-8C>T|||||| 22 36689921 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|28/40|c.3838-12C>T|||||| 22 36690101 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|28/40|c.3837+37G>A|||||| 22 36690113 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|28/40|c.3837+25C>T|||||| 22 36690120 . T C . . ANN=C|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|28/40|c.3837+18A>G|||||| 22 36690189 . G T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|28/41|c.3786C>A|p.Asn1262Lys|4017/7505|3786/5883|1262/1960|| 22 36690282 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|28/41|c.3693C>T|p.Asn1231Asn|3924/7505|3693/5883|1231/1960|| 22 36691016 . C T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|27/41|c.3592G>A|p.Val1198Met|3823/7505|3592/5883|1198/1960|| 22 36691054 . G C . . ANN=C|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|27/41|c.3554C>G|p.Ala1185Gly|3785/7505|3554/5883|1185/1960|| 22 36691153 . C G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|26/40|c.3486-31G>C|||||| 22 36691502 . C A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|26/40|c.3485+49G>T|||||| 22 36691533 . C G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|26/40|c.3485+18G>C|||||| 22 36691607 . A C . . ANN=C|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|26/41|c.3429T>G|p.Ala1143Ala|3660/7505|3429/5883|1143/1960|| 22 36691691 . T C . . ANN=C|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|26/41|c.3345A>G|p.Glu1115Glu|3576/7505|3345/5883|1115/1960|| 22 36692854 . C G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|25/40|c.3272+35G>C|||||| 22 36692915 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|25/41|c.3246G>A|p.Glu1082Glu|3477/7505|3246/5883|1082/1960|| 22 36692980 . T A . . ANN=A|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|25/41|c.3181A>T|p.Ser1061Cys|3412/7505|3181/5883|1061/1960|| 22 36693002 . C A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|25/41|c.3159G>T|p.Leu1053Leu|3390/7505|3159/5883|1053/1960|| 22 36693082 . C G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|24/40|c.3101-22G>C|||||| 22 36694924 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|24/40|c.3100+41C>T|||||| 22 36694929 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|24/40|c.3100+36G>A|||||| 22 36694954 . C G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|24/40|c.3100+11G>C|||||| 22 36694958 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|24/40|c.3100+7G>A|||||| 22 36695098 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|23/40|c.2977-10C>T|||||| 22 36695123 . G C . . ANN=C|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|23/40|c.2977-35C>G|||||| 22 36696148 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|23/40|c.2976+25C>T|||||| 22 36696236 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|23/41|c.2913G>A|p.Ala971Ala|3144/7505|2913/5883|971/1960|| 22 36696330 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|22/40|c.2839-20G>A|||||| 22 36696353 . G T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|22/40|c.2839-43C>A|||||| 22 36696354 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|22/40|c.2839-44G>A|||||| 22 36696862 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|22/40|c.2838+35C>T|||||| 22 36696927 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|22/41|c.2808G>A|p.Ala936Ala|3039/7505|2808/5883|936/1960|| 22 36697014 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|22/41|c.2721C>T|p.Thr907Thr|2952/7505|2721/5883|907/1960|| 22 36697077 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|22/41|c.2658G>A|p.Gln886Gln|2889/7505|2658/5883|886/1960|| 22 36697100 . T G . . ANN=G|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|22/41|c.2635A>C|p.Met879Leu|2866/7505|2635/5883|879/1960|| 22 36697537 . A G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|21/40|c.2631+43T>C|||||| 22 36697620 . G A . . ANN=A|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|21/41|c.2591C>T|p.Ala864Val|2822/7505|2591/5883|864/1960|| 22 36697731 . T A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|20/40|c.2500-20A>T|||||| 22 36697758 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|20/40|c.2500-47G>A|||||| 22 36700087 . C T . . ANN=T|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|19/41|c.2344G>A|p.Val782Ile|2575/7505|2344/5883|782/1960|| 22 36700136 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|19/41|c.2295C>T|p.Ala765Ala|2526/7505|2295/5883|765/1960|| 22 36700175 . A G . . ANN=G|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|19/41|c.2256T>C|p.Asn752Asn|2487/7505|2256/5883|752/1960|| 22 36701066 . C A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|18/40|c.2229+13G>T|||||| 22 36701185 . T A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|17/40|c.2160-37A>T|||||| 22 36701937 . G T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|17/40|c.2159+39C>A|||||| 22 36702032 . G C . . ANN=C|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|17/41|c.2103C>G|p.Ile701Met|2334/7505|2103/5883|701/1960|| 22 36702074 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|17/41|c.2061C>T|p.Leu687Leu|2292/7505|2061/5883|687/1960|| 22 36702102 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|16/40|c.2038-5T>C|||||| 22 36702134 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|16/40|c.2038-37C>T|||||| 22 36702456 . G GCAC . . ANN=GCAC|splice_region_variant&intron_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|16/40|c.2037+3_2037+4insGTG|||||| 22 36702505 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|16/41|c.1992G>A|p.Thr664Thr|2223/7505|1992/5883|664/1960|| 22 36702517 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|16/41|c.1980G>A|p.Thr660Thr|2211/7505|1980/5883|660/1960|| 22 36702640 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|16/41|c.1857C>T|p.Ile619Ile|2088/7505|1857/5883|619/1960|| 22 36705447 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|14/40|c.1729-6C>T|||||| 22 36705462 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|14/40|c.1729-21C>T|||||| 22 36708049 . CTCCTGTGA C . . ANN=C|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|14/40|c.1728+37_1728+44delTCACAGGA|||||| 22 36708084 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|14/40|c.1728+10G>A|||||| 22 36708136 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|14/41|c.1686G>A|p.Leu562Leu|1917/7505|1686/5883|562/1960|| 22 36708196 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|14/41|c.1626C>T|p.Phe542Phe|1857/7505|1626/5883|542/1960|| 22 36708244 . G C . . ANN=C|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|14/41|c.1578C>G|p.Ala526Ala|1809/7505|1578/5883|526/1960|| 22 36708256 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|14/41|c.1566G>A|p.Pro522Pro|1797/7505|1566/5883|522/1960|| 22 36708279 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|13/40|c.1555-12C>T|||||| 22 36708317 . C A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|13/40|c.1555-50G>T|||||| 22 36710169 . C CAAA . . ANN=CAAA|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|13/40|c.1554+20_1554+21insTTT|||||| 22 36710183 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|13/40|c.1554+7A>G|||||| 22 36710394 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|12/40|c.1381-31G>A|||||| 22 36712549 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|12/40|c.1380+13C>T|||||| 22 36712598 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|12/41|c.1344C>T|p.Ile448Ile|1575/7505|1344/5883|448/1960|| 22 36714229 . T G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|11/40|c.1227+23A>C|||||| 22 36714303 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|11/41|c.1176G>A|p.Pro392Pro|1407/7505|1176/5883|392/1960|| 22 36714312 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|11/41|c.1167C>T|p.Ile389Ile|1398/7505|1167/5883|389/1960|| 22 36714321 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|11/41|c.1158C>T|p.Thr386Thr|1389/7505|1158/5883|386/1960|| 22 36714406 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|10/40|c.1109-36C>T|||||| 22 36715547 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|10/40|c.1108+38G>A|||||| 22 36715566 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|10/40|c.1108+19C>T|||||| 22 36715576 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|10/40|c.1108+9C>T|||||| 22 36715595 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|10/41|c.1098C>T|p.Pro366Pro|1329/7505|1098/5883|366/1960|| 22 36715610 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|10/41|c.1083C>T|p.Asp361Asp|1314/7505|1083/5883|361/1960|| 22 36716349 . T C . . ANN=C|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|9/41|c.928A>G|p.Ile310Val|1159/7505|928/5883|310/1960|| 22 36716433 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|8/40|c.869-25C>T|||||| 22 36716814 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|8/40|c.868+29G>A|||||| 22 36716984 . A G . . ANN=G|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|7/40|c.770-43T>C|||||| 22 36717765 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|7/40|c.769+38C>T|||||| 22 36717773 . G T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|7/40|c.769+30C>A|||||| 22 36717788 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|7/40|c.769+15C>T|||||| 22 36717851 . T C . . ANN=C|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|7/41|c.721A>G|p.Ile241Val|952/7505|721/5883|241/1960|| 22 36717858 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|7/41|c.714C>T|p.Phe238Phe|945/7505|714/5883|238/1960|| 22 36718451 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|6/40|c.705+23G>A|||||| 22 36718457 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|6/40|c.705+17C>T|||||| 22 36718460 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|6/40|c.705+14C>T|||||| 22 36718462 . C T . . ANN=T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|6/40|c.705+12G>A|||||| 22 36718564 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|6/41|c.615C>T|p.Gly205Gly|846/7505|615/5883|205/1960|| 22 36718598 . G A . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|5/40|c.613-32C>T|||||| 22 36722634 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|5/41|c.591G>A|p.Ser197Ser|822/7505|591/5883|197/1960|| 22 36722682 . C T . . ANN=T|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|5/41|c.543G>A|p.Thr181Thr|774/7505|543/5883|181/1960|| 22 36723483 . T C . . ANN=C|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|4/40|c.518+23A>G|||||| 22 36744925 . C A,T . . ANN=A|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|2/40|c.333+24G>T||||||,T|intron_variant|MODIFIER|MYH9|MYH9|transcript|NM_002473.4|Coding|2/40|c.333+24G>A|||||| 22 36744964 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|2/41|c.318C>T|p.Tyr106Tyr|549/7505|318/5883|106/1960|| 22 36745117 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|2/41|c.165C>T|p.Ile55Ile|396/7505|165/5883|55/1960|| 22 36745146 . G A . . ANN=A|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|2/41|c.136C>T|p.Leu46Phe|367/7505|136/5883|46/1960|| 22 36745261 . A G . . ANN=G|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|2/41|c.21T>C|p.Asp7Asp|252/7505|21/5883|7/1960|| 22 36745264 . G A . . ANN=A|synonymous_variant|LOW|MYH9|MYH9|transcript|NM_002473.4|Coding|2/41|c.18C>T|p.Ala6Ala|249/7505|18/5883|6/1960|| 22 36745275 . G C . . ANN=C|missense_variant|MODERATE|MYH9|MYH9|transcript|NM_002473.4|Coding|2/41|c.7C>G|p.Gln3Glu|238/7505|7/5883|3/1960|| 22 36863817 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TXN2|TXN2|transcript|NM_012473.3|Coding|4/4|c.*34G>A|||||34| 22 36872750 . T G . . ANN=G|intron_variant|MODIFIER|TXN2|TXN2|transcript|NM_012473.3|Coding|3/3|c.387+30A>C|||||| 22 36872755 . G A . . ANN=A|intron_variant|MODIFIER|TXN2|TXN2|transcript|NM_012473.3|Coding|3/3|c.387+25C>T|||||| 22 36872818 . C T . . ANN=T|missense_variant|MODERATE|TXN2|TXN2|transcript|NM_012473.3|Coding|3/4|c.349G>A|p.Asp117Asn|426/1336|349/501|117/166|| 22 36872873 . C T . . ANN=T|synonymous_variant|LOW|TXN2|TXN2|transcript|NM_012473.3|Coding|3/4|c.294G>A|p.Pro98Pro|371/1336|294/501|98/166|| 22 36876622 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|TXN2|TXN2|transcript|NM_012473.3|Coding|2/4|c.263A>G|p.Gln88Arg|340/1336|263/501|88/166|| 22 36876729 . T C . . ANN=C|missense_variant|MODERATE|TXN2|TXN2|transcript|NM_012473.3|Coding|2/4|c.156A>G|p.Ile52Met|233/1336|156/501|52/166|| 22 36876852 . C T . . ANN=T|synonymous_variant|LOW|TXN2|TXN2|transcript|NM_012473.3|Coding|2/4|c.33G>A|p.Leu11Leu|110/1336|33/501|11/166|| 22 36886078 . C T . . ANN=T|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|9/9|c.2032G>A|p.Asp678Asn|2126/4971|2032/2055|678/684||,T|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|9/9|c.2032G>A|p.Asp678Asn|2165/5010|2032/2055|678/684|| 22 36886112 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|9/9|c.1998C>T|p.Ser666Ser|2092/4971|1998/2055|666/684||,A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|9/9|c.1998C>T|p.Ser666Ser|2131/5010|1998/2055|666/684|| 22 36886178 . A G . . ANN=G|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|9/9|c.1932T>C|p.Tyr644Tyr|2026/4971|1932/2055|644/684||,G|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|9/9|c.1932T>C|p.Tyr644Tyr|2065/5010|1932/2055|644/684|| 22 36886199 . C G . . ANN=G|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|9/9|c.1911G>C|p.Glu637Asp|2005/4971|1911/2055|637/684||,G|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|9/9|c.1911G>C|p.Glu637Asp|2044/5010|1911/2055|637/684|| 22 36886226 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|9/9|c.1884C>T|p.Thr628Thr|1978/4971|1884/2055|628/684||,A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|9/9|c.1884C>T|p.Thr628Thr|2017/5010|1884/2055|628/684|| 22 36886288 . G A . . ANN=A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|9/9|c.1822C>T|p.Arg608Cys|1916/4971|1822/2055|608/684||,A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|9/9|c.1822C>T|p.Arg608Cys|1955/5010|1822/2055|608/684|| 22 36886332 . G A . . ANN=A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|8/8|c.1796-18C>T||||||,A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|8/8|c.1796-18C>T|||||| 22 36889645 . C T . . ANN=T|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|8/8|c.1795+35G>A||||||,T|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|8/8|c.1795+35G>A|||||| 22 36889665 . G A . . ANN=A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|8/8|c.1795+15C>T||||||,A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|8/8|c.1795+15C>T|||||| 22 36889710 . A G . . ANN=G|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|8/9|c.1765T>C|p.Leu589Leu|1859/4971|1765/2055|589/684||,G|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|8/9|c.1765T>C|p.Leu589Leu|1898/5010|1765/2055|589/684|| 22 36889753 . C T . . ANN=T|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|8/9|c.1722G>A|p.Pro574Pro|1816/4971|1722/2055|574/684||,T|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|8/9|c.1722G>A|p.Pro574Pro|1855/5010|1722/2055|574/684|| 22 36889816 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|8/9|c.1659C>T|p.Pro553Pro|1753/4971|1659/2055|553/684||,A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|8/9|c.1659C>T|p.Pro553Pro|1792/5010|1659/2055|553/684|| 22 36892102 . AAAG A . . ANN=A|disruptive_inframe_deletion|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|7/9|c.1533_1535delCTT|p.Phe512del|1629/4971|1533/2055|511/684||,A|disruptive_inframe_deletion|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|7/9|c.1533_1535delCTT|p.Phe512del|1668/5010|1533/2055|511/684|| 22 36892103 . A C . . ANN=C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|7/9|c.1535T>G|p.Phe512Cys|1629/4971|1535/2055|512/684||,C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|7/9|c.1535T>G|p.Phe512Cys|1668/5010|1535/2055|512/684|| 22 36892134 . T A . . ANN=A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|7/9|c.1504A>T|p.Asn502Tyr|1598/4971|1504/2055|502/684||,A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|7/9|c.1504A>T|p.Asn502Tyr|1637/5010|1504/2055|502/684|| 22 36892168 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|7/9|c.1470C>T|p.His490His|1564/4971|1470/2055|490/684||,A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|7/9|c.1470C>T|p.His490His|1603/5010|1470/2055|490/684|| 22 36892240 . A C . . ANN=C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|7/9|c.1398T>G|p.Phe466Leu|1492/4971|1398/2055|466/684||,C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|7/9|c.1398T>G|p.Phe466Leu|1531/5010|1398/2055|466/684|| 22 36892273 . C T . . ANN=T|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|6/8|c.1383-18G>A||||||,T|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|6/8|c.1383-18G>A|||||| 22 36892300 . A G . . ANN=G|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|6/8|c.1383-45T>C||||||,G|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|6/8|c.1383-45T>C|||||| 22 36893993 . G A . . ANN=A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|6/8|c.1382+45C>T||||||,A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|6/8|c.1382+45C>T|||||| 22 36894054 . C A . . ANN=A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|6/9|c.1366G>T|p.Val456Phe|1460/4971|1366/2055|456/684||,A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|6/9|c.1366G>T|p.Val456Phe|1499/5010|1366/2055|456/684|| 22 36894133 . G C . . ANN=C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|6/9|c.1287C>G|p.Ile429Met|1381/4971|1287/2055|429/684||,C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|6/9|c.1287C>G|p.Ile429Met|1420/5010|1287/2055|429/684|| 22 36894162 . C T . . ANN=T|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|6/9|c.1258G>A|p.Val420Ile|1352/4971|1258/2055|420/684||,T|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|6/9|c.1258G>A|p.Val420Ile|1391/5010|1258/2055|420/684|| 22 36894232 . G A . . ANN=A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/8|c.1217-29C>T||||||,A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/8|c.1217-29C>T|||||| 22 36894235 . G T . . ANN=T|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/8|c.1217-32C>A||||||,T|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/8|c.1217-32C>A|||||| 22 36894236 . C T . . ANN=T|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/8|c.1217-33G>A||||||,T|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/8|c.1217-33G>A|||||| 22 36897261 . C G . . ANN=G|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/8|c.1216+27G>C||||||,G|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/8|c.1216+27G>C|||||| 22 36897304 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/9|c.1200C>T|p.His400His|1294/4971|1200/2055|400/684||,A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/9|c.1200C>T|p.His400His|1333/5010|1200/2055|400/684|| 22 36897341 . G A . . ANN=A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/9|c.1163C>T|p.Ser388Leu|1257/4971|1163/2055|388/684||,A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/9|c.1163C>T|p.Ser388Leu|1296/5010|1163/2055|388/684|| 22 36897383 . T C . . ANN=C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/9|c.1121A>G|p.Lys374Arg|1215/4971|1121/2055|374/684||,C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/9|c.1121A>G|p.Lys374Arg|1254/5010|1121/2055|374/684|| 22 36897410 . G A . . ANN=A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/9|c.1094C>T|p.Pro365Leu|1188/4971|1094/2055|365/684||,A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/9|c.1094C>T|p.Pro365Leu|1227/5010|1094/2055|365/684|| 22 36897427 . T C . . ANN=C|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|5/9|c.1077A>G|p.Ala359Ala|1171/4971|1077/2055|359/684||,C|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|5/9|c.1077A>G|p.Ala359Ala|1210/5010|1077/2055|359/684|| 22 36900186 . G C . . ANN=C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|4/9|c.1008C>G|p.Ile336Met|1102/4971|1008/2055|336/684||,C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|4/9|c.1008C>G|p.Ile336Met|1141/5010|1008/2055|336/684|| 22 36900271 . T C . . ANN=C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|4/9|c.923A>G|p.Asn308Ser|1017/4971|923/2055|308/684||,C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|4/9|c.923A>G|p.Asn308Ser|1056/5010|923/2055|308/684|| 22 36900342 . C T . . ANN=T|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|4/9|c.852G>A|p.Thr284Thr|946/4971|852/2055|284/684||,T|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|4/9|c.852G>A|p.Thr284Thr|985/5010|852/2055|284/684|| 22 36900429 . A G . . ANN=G|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/8|c.780-15T>C||||||,G|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/8|c.780-15T>C|||||| 22 36900550 . G A . . ANN=A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/8|c.779+12C>T||||||,A|intron_variant|MODIFIER|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/8|c.779+12C>T|||||| 22 36900555 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/8|c.779+7C>G||||||,C|splice_region_variant&intron_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/8|c.779+7C>G|||||| 22 36900679 . C T . . ANN=T|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/9|c.662G>A|p.Arg221His|756/4971|662/2055|221/684||,T|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/9|c.662G>A|p.Arg221His|795/5010|662/2055|221/684|| 22 36900695 . C T . . ANN=T|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/9|c.646G>A|p.Val216Met|740/4971|646/2055|216/684||,T|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/9|c.646G>A|p.Val216Met|779/5010|646/2055|216/684|| 22 36900732 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/9|c.609C>T|p.Ser203Ser|703/4971|609/2055|203/684||,A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/9|c.609C>T|p.Ser203Ser|742/5010|609/2055|203/684|| 22 36900774 . C A . . ANN=A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/9|c.567G>T|p.Gln189His|661/4971|567/2055|189/684||,A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/9|c.567G>T|p.Gln189His|700/5010|567/2055|189/684|| 22 36900806 . A G . . ANN=G|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/9|c.535T>C|p.Phe179Leu|629/4971|535/2055|179/684||,G|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/9|c.535T>C|p.Phe179Leu|668/5010|535/2055|179/684|| 22 36900812 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|3/9|c.529G>A|p.Val177Ile|623/4971|529/2055|177/684||,T|missense_variant&splice_region_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|3/9|c.529G>A|p.Val177Ile|662/5010|529/2055|177/684|| 22 36901985 . T C . . ANN=C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|2/9|c.485A>G|p.Tyr162Cys|579/4971|485/2055|162/684||,C|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|2/9|c.485A>G|p.Tyr162Cys|618/5010|485/2055|162/684|| 22 36902031 . C G . . ANN=G|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|2/9|c.439G>C|p.Ala147Pro|533/4971|439/2055|147/684||,G|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|2/9|c.439G>C|p.Ala147Pro|572/5010|439/2055|147/684|| 22 36902101 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|2/9|c.369C>T|p.Arg123Arg|463/4971|369/2055|123/684||,A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|2/9|c.369C>T|p.Arg123Arg|502/5010|369/2055|123/684|| 22 36902161 . G A . . ANN=A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|2/9|c.309C>T|p.Leu103Leu|403/4971|309/2055|103/684||,A|synonymous_variant|LOW|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|2/9|c.309C>T|p.Leu103Leu|442/5010|309/2055|103/684|| 22 36902259 . G A . . ANN=A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_001102371.1|Coding|2/9|c.211C>T|p.Arg71Cys|305/4971|211/2055|71/684||,A|missense_variant|MODERATE|FOXRED2|FOXRED2|transcript|NM_024955.5|Coding|2/9|c.211C>T|p.Arg71Cys|344/5010|211/2055|71/684|| 22 36907001 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|15/15|c.*33A>G|||||33| 22 36907031 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|15/15|c.*3C>T|||||3| 22 36907095 . T G . . ANN=G|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|14/14|c.1634-48A>C|||||| 22 36907665 . G A . . ANN=A|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|14/15|c.1518C>T|p.Tyr506Tyr|1683/1949|1518/1647|506/548|| 22 36907716 . G T . . ANN=T|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|14/15|c.1467C>A|p.Gly489Gly|1632/1949|1467/1647|489/548|| 22 36907872 . GCA G . . ANN=G|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|13/14|c.1350-41_1350-40delTG|||||| 22 36908479 . G A . . ANN=A|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|13/14|c.1349+28C>T|||||| 22 36908587 . C T . . ANN=T|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|13/15|c.1269G>A|p.Thr423Thr|1434/1949|1269/1647|423/548|| 22 36908658 . G A . . ANN=A|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|12/14|c.1207-9C>T|||||| 22 36908665 . G A . . ANN=A|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|12/14|c.1207-16C>T|||||| 22 36908667 . T C . . ANN=C|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|12/14|c.1207-18A>G|||||| 22 36912623 . C G . . ANN=G|missense_variant|MODERATE|EIF3D|EIF3D|transcript|NM_003753.3|Coding|12/15|c.1108G>C|p.Asp370His|1273/1949|1108/1647|370/548|| 22 36912630 . A G . . ANN=G|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|12/15|c.1101T>C|p.Asp367Asp|1266/1949|1101/1647|367/548|| 22 36912724 . C T . . ANN=T|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|11/14|c.1076+28G>A|||||| 22 36912769 . G T . . ANN=T|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|11/15|c.1059C>A|p.Ile353Ile|1224/1949|1059/1647|353/548|| 22 36913495 . T C . . ANN=C|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|9/14|c.860-17A>G|||||| 22 36913505 . C G . . ANN=G|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|9/14|c.860-27G>C|||||| 22 36914967 . G A . . ANN=A|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|8/14|c.712-10C>T|||||| 22 36914990 . G C . . ANN=C|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|8/14|c.712-33C>G|||||| 22 36915445 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|8/14|c.711+7G>A|||||| 22 36915464 . A G . . ANN=G|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|8/15|c.699T>C|p.Pro233Pro|864/1949|699/1647|233/548|| 22 36915503 . G C . . ANN=C|missense_variant|MODERATE|EIF3D|EIF3D|transcript|NM_003753.3|Coding|8/15|c.660C>G|p.Ile220Met|825/1949|660/1647|220/548|| 22 36916648 . A C . . ANN=C|missense_variant|MODERATE|EIF3D|EIF3D|transcript|NM_003753.3|Coding|7/15|c.553T>G|p.Leu185Val|718/1949|553/1647|185/548|| 22 36916753 . T C . . ANN=C|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|6/14|c.466-18A>G|||||| 22 36919242 . T A . . ANN=A|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|6/14|c.465+14A>T|||||| 22 36919343 . A G . . ANN=G|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|5/14|c.393-15T>C|||||| 22 36919358 . A G . . ANN=G|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|5/14|c.393-30T>C|||||| 22 36919375 . G C . . ANN=C|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|5/14|c.393-47C>G|||||| 22 36919928 . G A . . ANN=A|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|5/14|c.392+14C>T|||||| 22 36920062 . T C . . ANN=C|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|4/14|c.307-35A>G|||||| 22 36920064 . G A . . ANN=A|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|4/14|c.307-37C>T|||||| 22 36920598 . A T . . ANN=T|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|4/14|c.306+45T>A|||||| 22 36920652 . T C . . ANN=C|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|4/15|c.297A>G|p.Arg99Arg|462/1949|297/1647|99/548|| 22 36920691 . C T . . ANN=T|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|4/15|c.258G>A|p.Ala86Ala|423/1949|258/1647|86/548|| 22 36920692 . G A . . ANN=A|missense_variant|MODERATE|EIF3D|EIF3D|transcript|NM_003753.3|Coding|4/15|c.257C>T|p.Ala86Val|422/1949|257/1647|86/548|| 22 36920806 . T C . . ANN=C|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|3/14|c.170-27A>G|||||| 22 36920815 . C T . . ANN=T|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|3/14|c.170-36G>A|||||| 22 36921733 . T C . . ANN=C|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|3/15|c.147A>G|p.Thr49Thr|312/1949|147/1647|49/548|| 22 36921761 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|2/14|c.124-5C>T|||||| 22 36922035 . C G . . ANN=G|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|2/14|c.123+11G>C|||||| 22 36922052 . T C . . ANN=C|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|2/15|c.117A>G|p.Leu39Leu|282/1949|117/1647|39/548|| 22 36922067 . G A . . ANN=A|synonymous_variant|LOW|EIF3D|EIF3D|transcript|NM_003753.3|Coding|2/15|c.102C>T|p.Ser34Ser|267/1949|102/1647|34/548|| 22 36922205 . C T . . ANN=T|intron_variant|MODIFIER|EIF3D|EIF3D|transcript|NM_003753.3|Coding|1/14|c.-10-27G>A|||||| 22 36960419 . G A . . ANN=A|synonymous_variant|LOW|CACNG2|CACNG2|transcript|NM_006078.3|Coding|4/4|c.951C>T|p.Asn317Asn|1020/4523|951/972|317/323|| 22 36960589 . T G . . ANN=G|missense_variant|MODERATE|CACNG2|CACNG2|transcript|NM_006078.3|Coding|4/4|c.781A>C|p.Asn261His|850/4523|781/972|261/323|| 22 36960611 . G T . . ANN=T|synonymous_variant|LOW|CACNG2|CACNG2|transcript|NM_006078.3|Coding|4/4|c.759C>A|p.Ser253Ser|828/4523|759/972|253/323|| 22 36960725 . C T . . ANN=T|synonymous_variant|LOW|CACNG2|CACNG2|transcript|NM_006078.3|Coding|4/4|c.645G>A|p.Thr215Thr|714/4523|645/972|215/323|| 22 36960758 . C A . . ANN=A|synonymous_variant|LOW|CACNG2|CACNG2|transcript|NM_006078.3|Coding|4/4|c.612G>T|p.Arg204Arg|681/4523|612/972|204/323|| 22 36960957 . T A . . ANN=A|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|3/3|c.437-24A>T|||||| 22 36962353 . C G . . ANN=G|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|3/3|c.436+47G>C|||||| 22 36962391 . G A . . ANN=A|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|3/3|c.436+9C>T|||||| 22 36962571 . G C . . ANN=C|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|2/3|c.296-31C>G|||||| 22 36983483 . G A . . ANN=A|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|2/3|c.295+29C>T|||||| 22 36983500 . G A . . ANN=A|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|2/3|c.295+12C>T|||||| 22 36983540 . G A . . ANN=A|synonymous_variant|LOW|CACNG2|CACNG2|transcript|NM_006078.3|Coding|2/4|c.267C>T|p.Tyr89Tyr|336/4523|267/972|89/323|| 22 36983582 . A G . . ANN=G|synonymous_variant|LOW|CACNG2|CACNG2|transcript|NM_006078.3|Coding|2/4|c.225T>C|p.Gly75Gly|294/4523|225/972|75/323|| 22 36983607 . G T . . ANN=T|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|1/3|c.212-12C>A|||||| 22 36983627 . ACAT A . . ANN=A|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|1/3|c.212-35_212-33delATG|||||| 22 36983645 . C T . . ANN=T|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|1/3|c.212-50G>A|||||| 22 37098386 . G C . . ANN=C|intron_variant|MODIFIER|CACNG2|CACNG2|transcript|NM_006078.3|Coding|1/3|c.211+25C>G|||||| 22 37098406 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNG2|CACNG2|transcript|NM_006078.3|Coding|1/3|c.211+5T>A|||||| 22 37154326 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|7/7|c.*29C>T|||||29|,A|3_prime_UTR_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|7/7|c.*29C>T|||||29| 22 37154339 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|7/7|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|7/7|c.*16C>T|||||16| 22 37158898 . C T . . ANN=T|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|6/6|c.462+50G>A||||||,T|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|6/6|c.459+50G>A|||||| 22 37158985 . G A . . ANN=A|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_001177701.2|Coding|6/7|c.425C>T|p.Ala142Val|851/1096|425/561|142/186||,A|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_006860.4|Coding|6/7|c.422C>T|p.Ala141Val|848/1093|422/558|141/185|| 22 37158995 . G A . . ANN=A|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_001177701.2|Coding|6/7|c.415C>T|p.Arg139Trp|841/1096|415/561|139/186||,A|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_006860.4|Coding|6/7|c.412C>T|p.Arg138Trp|838/1093|412/558|138/185|| 22 37159036 . G A . . ANN=A|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_001177701.2|Coding|6/7|c.374C>T|p.Thr125Ile|800/1096|374/561|125/186||,A|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_006860.4|Coding|6/7|c.371C>T|p.Thr124Ile|797/1093|371/558|124/185|| 22 37159101 . C G . . ANN=G|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|5/6|c.353-44G>C||||||,G|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|5/6|c.350-44G>C|||||| 22 37159993 . G A . . ANN=A|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_001177701.2|Coding|5/7|c.322C>T|p.Arg108Trp|748/1096|322/561|108/186||,A|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_006860.4|Coding|5/7|c.319C>T|p.Arg107Trp|745/1093|319/558|107/185|| 22 37160049 . T C . . ANN=C|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_001177701.2|Coding|5/7|c.266A>G|p.Tyr89Cys|692/1096|266/561|89/186||,C|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_006860.4|Coding|5/7|c.263A>G|p.Tyr88Cys|689/1093|263/558|88/185|| 22 37160111 . C T . . ANN=T|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|4/6|c.235-31G>A||||||,T|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|4/6|c.232-31G>A|||||| 22 37163329 . C T . . ANN=T|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|3/6|c.174+21G>A||||||,T|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|3/6|c.171+21G>A|||||| 22 37163433 . T C . . ANN=C|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|2/6|c.115-24A>G||||||,C|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|2/6|c.112-24A>G|||||| 22 37163864 . C T . . ANN=T|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_001177701.2|Coding|2/7|c.77G>A|p.Arg26His|503/1096|77/561|26/186||,T|missense_variant|MODERATE|IFT27|IFT27|transcript|NM_006860.4|Coding|2/7|c.74G>A|p.Arg25His|500/1093|74/558|25/185|| 22 37163909 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|IFT27|IFT27|transcript|NM_001177701.2|Coding|1/6|c.35-3C>T||||||,A|splice_region_variant&intron_variant|LOW|IFT27|IFT27|transcript|NM_006860.4|Coding|1/6|c.35-6C>T|||||| 22 37171689 . C A . . ANN=A|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|1/6|c.34+29G>T||||||,A|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|1/6|c.34+29G>T||||||,A|intron_variant|MODIFIER|IFT27|IFT27|transcript|NR_033531.2|Noncoding|1/1|n.460+29G>T|||||| 22 37171694 . T C . . ANN=C|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|1/6|c.34+24A>G||||||,C|intron_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|1/6|c.34+24A>G||||||,C|intron_variant|MODIFIER|IFT27|IFT27|transcript|NR_033531.2|Noncoding|1/1|n.460+24A>G|||||| 22 37171725 . G A . . ANN=A|synonymous_variant|LOW|IFT27|IFT27|transcript|NM_001177701.2|Coding|1/7|c.27C>T|p.Ile9Ile|453/1096|27/561|9/186||,A|synonymous_variant|LOW|IFT27|IFT27|transcript|NM_006860.4|Coding|1/7|c.27C>T|p.Ile9Ile|453/1093|27/558|9/185||,A|non_coding_exon_variant|MODIFIER|IFT27|IFT27|transcript|NR_033531.2|Noncoding|1/2|n.453C>T|||||| 22 37171757 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|IFT27|IFT27|transcript|NM_001177701.2|Coding|1/7|c.-6G>A|||||6|,T|5_prime_UTR_variant|MODIFIER|IFT27|IFT27|transcript|NM_006860.4|Coding|1/7|c.-6G>A|||||6|,T|non_coding_exon_variant|MODIFIER|IFT27|IFT27|transcript|NR_033531.2|Noncoding|1/2|n.421G>A|||||| 22 37196905 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|5/5|c.*29C>G|||||29| 22 37196971 . C A . . ANN=A|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|4/4|c.305-9G>T|||||| 22 37196986 . A G . . ANN=G|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|4/4|c.305-24T>C|||||| 22 37196999 . C T . . ANN=T|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|4/4|c.305-37G>A|||||| 22 37209762 . G A . . ANN=A|synonymous_variant|LOW|PVALB|PVALB|transcript|NM_002854.2|Coding|4/5|c.232C>T|p.Leu78Leu|282/572|232/333|78/110|| 22 37209823 . C T . . ANN=T|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|3/4|c.195-24G>A|||||| 22 37209829 . G A . . ANN=A|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|3/4|c.195-30C>T|||||| 22 37211105 . G C . . ANN=C|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|3/4|c.194+42C>G|||||| 22 37211141 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|PVALB|PVALB|transcript|NM_002854.2|Coding|3/4|c.194+6C>G|||||| 22 37211148 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PVALB|PVALB|transcript|NM_002854.2|Coding|3/5|c.193G>A|p.Gly65Arg|243/572|193/333|65/110|| 22 37211155 . A G . . ANN=G|synonymous_variant|LOW|PVALB|PVALB|transcript|NM_002854.2|Coding|3/5|c.186T>C|p.Asp62Asp|236/572|186/333|62/110|| 22 37211219 . G A . . ANN=A|missense_variant|MODERATE|PVALB|PVALB|transcript|NM_002854.2|Coding|3/5|c.122C>T|p.Ala41Val|172/572|122/333|41/110|| 22 37211284 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PVALB|PVALB|transcript|NM_002854.2|Coding|2/4|c.62-5C>T|||||| 22 37211286 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|PVALB|PVALB|transcript|NM_002854.2|Coding|2/4|c.62-7C>G|||||| 22 37211287 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|PVALB|PVALB|transcript|NM_002854.2|Coding|2/4|c.62-8C>A|||||| 22 37211289 . G A,T . . ANN=A|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|2/4|c.62-10C>T||||||,T|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|2/4|c.62-10C>A|||||| 22 37211324 . T C . . ANN=C|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|2/4|c.62-45A>G|||||| 22 37212945 . G T . . ANN=T|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|2/4|c.61+44C>A|||||| 22 37212950 . C G . . ANN=G|intron_variant|MODIFIER|PVALB|PVALB|transcript|NM_002854.2|Coding|2/4|c.61+39G>C|||||| 22 37213062 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PVALB|PVALB|transcript|NM_002854.2|Coding|1/4|c.-7-6A>G|||||| 22 37257177 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|1/9|c.-37G>A|||||37|,A|5_prime_UTR_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|1/10|c.-37G>A|||||37| 22 37260081 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|1/8|c.33-6G>A||||||,A|splice_region_variant&intron_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|1/9|c.33-6G>A|||||| 22 37260123 . G A . . ANN=A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|2/9|c.69G>A|p.Ser23Ser|253/1643|69/1047|23/348||,A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|2/10|c.69G>A|p.Ser23Ser|253/1398|69/1020|23/339|| 22 37260144 . G A . . ANN=A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|2/9|c.90G>A|p.Glu30Glu|274/1643|90/1047|30/348||,A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|2/10|c.90G>A|p.Glu30Glu|274/1398|90/1020|30/339|| 22 37260180 . G A . . ANN=A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|2/8|c.117+9G>A||||||,A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|2/9|c.117+9G>A|||||| 22 37260197 . CCAA C . . ANN=C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|2/8|c.117+27_117+29delCAA||||||,C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|2/9|c.117+27_117+29delCAA|||||| 22 37261015 . C T . . ANN=T|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_013416.3|Coding|3/9|c.172C>T|p.Arg58Cys|356/1643|172/1047|58/348||,T|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_000631.4|Coding|3/10|c.172C>T|p.Arg58Cys|356/1398|172/1020|58/339|| 22 37261021 . C T . . ANN=T|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_013416.3|Coding|3/9|c.178C>T|p.Arg60Cys|362/1643|178/1047|60/348||,T|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_000631.4|Coding|3/10|c.178C>T|p.Arg60Cys|362/1398|178/1020|60/339|| 22 37261083 . T C . . ANN=C|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|3/9|c.240T>C|p.Ser80Ser|424/1643|240/1047|80/348||,C|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|3/10|c.240T>C|p.Ser80Ser|424/1398|240/1020|80/339|| 22 37261097 . C A . . ANN=A|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_013416.3|Coding|3/9|c.254C>A|p.Thr85Asn|438/1643|254/1047|85/348||,A|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_000631.4|Coding|3/10|c.254C>A|p.Thr85Asn|438/1398|254/1020|85/339|| 22 37263533 . G A . . ANN=A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|4/8|c.342+29G>A||||||,A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|4/9|c.342+29G>A|||||| 22 37266425 . A G . . ANN=G|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|4/8|c.343-32A>G||||||,G|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|4/9|c.343-32A>G|||||| 22 37266453 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|4/8|c.343-4A>G||||||,G|splice_region_variant&intron_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|4/9|c.343-4A>G|||||| 22 37266504 . G A . . ANN=A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|5/9|c.390G>A|p.Arg130Arg|574/1643|390/1047|130/348||,A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|5/10|c.390G>A|p.Arg130Arg|574/1398|390/1020|130/339|| 22 37266572 . G A . . ANN=A|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_013416.3|Coding|5/9|c.458G>A|p.Arg153His|642/1643|458/1047|153/348||,A|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_000631.4|Coding|5/10|c.458G>A|p.Arg153His|642/1398|458/1020|153/339|| 22 37266604 . G C . . ANN=C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|5/8|c.470+20G>C||||||,C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|5/9|c.470+20G>C|||||| 22 37267767 . A G . . ANN=G|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|6/8|c.528+16A>G||||||,G|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|6/9|c.528+16A>G|||||| 22 37267768 . C A . . ANN=A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|6/8|c.528+17C>A||||||,A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|6/9|c.528+17C>A|||||| 22 37267769 . G C . . ANN=C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|6/8|c.528+18G>C||||||,C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|6/9|c.528+18G>C|||||| 22 37268501 . A G . . ANN=G|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|7/8|c.627+34A>G||||||,G|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|7/9|c.627+34A>G|||||| 22 37271672 . G A . . ANN=A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|7/8|c.628-23G>A||||||,A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|7/9|c.628-23G>A|||||| 22 37271681 . C A . . ANN=A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|7/8|c.628-14C>A||||||,A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|7/9|c.628-14C>A|||||| 22 37271715 . G A . . ANN=A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|8/9|c.648G>A|p.Thr216Thr|832/1643|648/1047|216/348||,A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|8/10|c.648G>A|p.Thr216Thr|832/1398|648/1020|216/339|| 22 37271772 . C T . . ANN=T|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|8/9|c.705C>T|p.Asp235Asp|889/1643|705/1047|235/348||,T|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|8/10|c.705C>T|p.Asp235Asp|889/1398|705/1020|235/339|| 22 37271802 . C T . . ANN=T|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|8/9|c.735C>T|p.Tyr245Tyr|919/1643|735/1047|245/348||,T|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|8/10|c.735C>T|p.Tyr245Tyr|919/1398|735/1020|245/339|| 22 37271882 . T C . . ANN=C|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_013416.3|Coding|8/9|c.815T>C|p.Leu272Pro|999/1643|815/1047|272/348||,C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|8/9|c.758+57T>C|||||| 22 37271906 . G C . . ANN=C|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_013416.3|Coding|8/9|c.839G>C|p.Gly280Ala|1023/1643|839/1047|280/348||,C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|8/9|c.758+81G>C|||||| 22 37272023 . C T . . ANN=T|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_013416.3|Coding|8/9|c.956C>T|p.Pro319Leu|1140/1643|956/1047|319/348||,T|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|8/9|c.759-48C>T|||||| 22 37272141 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NCF4|NCF4|transcript|NM_013416.3|Coding|8/8|c.*22+5G>A||||||,A|splice_region_variant&intron_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|9/9|c.824+5G>A|||||| 22 37272173 . T C . . ANN=C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|8/8|c.*22+37T>C||||||,C|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|9/9|c.824+37T>C|||||| 22 37272186 . G A . . ANN=A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|8/8|c.*22+50G>A||||||,A|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|9/9|c.824+50G>A|||||| 22 37273630 . C T . . ANN=T|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|8/8|c.*23-40C>T||||||,T|intron_variant|MODIFIER|NCF4|NCF4|transcript|NM_000631.4|Coding|9/9|c.825-40C>T|||||| 22 37273724 . T A . . ANN=A|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_000631.4|Coding|10/10|c.879T>A|p.Asp293Glu|1063/1398|879/1020|293/339||,A|3_prime_UTR_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|9/9|c.*77T>A|||||1610| 22 37273742 . G A . . ANN=A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|10/10|c.897G>A|p.Ser299Ser|1081/1398|897/1020|299/339||,A|3_prime_UTR_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|9/9|c.*95G>A|||||1628| 22 37273757 . G A . . ANN=A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|10/10|c.912G>A|p.Ala304Ala|1096/1398|912/1020|304/339||,A|3_prime_UTR_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|9/9|c.*110G>A|||||1643| 22 37273779 . G T . . ANN=T|missense_variant|MODERATE|NCF4|NCF4|transcript|NM_000631.4|Coding|10/10|c.934G>T|p.Gly312Cys|1118/1398|934/1020|312/339||,T|3_prime_UTR_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|9/9|c.*132G>T|||||1665| 22 37273805 . C T . . ANN=T|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|10/10|c.960C>T|p.Phe320Phe|1144/1398|960/1020|320/339||,T|3_prime_UTR_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|9/9|c.*158C>T|||||1691| 22 37273856 . G A . . ANN=A|synonymous_variant|LOW|NCF4|NCF4|transcript|NM_000631.4|Coding|10/10|c.1011G>A|p.Thr337Thr|1195/1398|1011/1020|337/339||,A|3_prime_UTR_variant|MODIFIER|NCF4|NCF4|transcript|NM_013416.3|Coding|9/9|c.*209G>A|||||1742| 22 37318306 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|2/14|c.57C>T|p.Arg19Arg|274/4846|57/2694|19/897|| 22 37318309 . C A . . ANN=A|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|2/14|c.60C>A|p.Ser20Arg|277/4846|60/2694|20/897|| 22 37318318 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|2/14|c.69G>A|p.Gly23Gly|286/4846|69/2694|23/897|| 22 37319256 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|2/13|c.77-30G>A|||||| 22 37319293 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|3/14|c.84C>T|p.Ile28Ile|301/4846|84/2694|28/897|| 22 37319326 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|3/14|c.117C>T|p.Tyr39Tyr|334/4846|117/2694|39/897|| 22 37319397 . G T . . ANN=T|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|3/14|c.188G>T|p.Arg63Leu|405/4846|188/2694|63/897|| 22 37319425 . G T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|3/13|c.200+16G>T|||||| 22 37319436 . C G . . ANN=G|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|3/13|c.200+27C>G|||||| 22 37322012 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|3/13|c.201-17G>A|||||| 22 37322074 . C G . . ANN=G|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|4/14|c.246C>G|p.Pro82Pro|463/4846|246/2694|82/897|| 22 37322095 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|4/14|c.267C>T|p.Pro89Pro|484/4846|267/2694|89/897|| 22 37322101 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|4/14|c.273C>T|p.Cys91Cys|490/4846|273/2694|91/897|| 22 37322192 . C T . . ANN=T|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|4/14|c.364C>T|p.Arg122Trp|581/4846|364/2694|122/897|| 22 37322200 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|4/14|c.372C>T|p.Thr124Thr|589/4846|372/2694|124/897|| 22 37325396 . C G . . ANN=G|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|4/13|c.392-48C>G|||||| 22 37325400 . C A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|4/13|c.392-44C>A|||||| 22 37325405 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|4/13|c.392-39G>A|||||| 22 37325703 . A G . . ANN=G|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|6/14|c.572A>G|p.Asn191Ser|789/4846|572/2694|191/897|| 22 37325704 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|6/14|c.573C>T|p.Asn191Asn|790/4846|573/2694|191/897|| 22 37325818 . G A . . ANN=A|stop_gained|HIGH|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|6/14|c.687G>A|p.Trp229*|904/4846|687/2694|229/897||;LOF=(CSF2RB|CSF2RB|1|1.00);NMD=(CSF2RB|CSF2RB|1|1.00) 22 37325833 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|6/14|c.702C>T|p.Cys234Cys|919/4846|702/2694|234/897|| 22 37325887 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|6/13|c.718+38G>A|||||| 22 37326387 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|6/13|c.719-30G>A|||||| 22 37326443 . G C . . ANN=C|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|7/14|c.745G>C|p.Glu249Gln|962/4846|745/2694|249/897|| 22 37326669 . C T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|7/13|c.855-46C>T|||||| 22 37326678 . T G . . ANN=G|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|7/13|c.855-37T>G|||||| 22 37326685 . C A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|7/13|c.855-30C>A|||||| 22 37326749 . C G . . ANN=G|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|8/14|c.889C>G|p.Leu297Val|1106/4846|889/2694|297/897|| 22 37326794 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|8/14|c.934G>A|p.Asp312Asn|1151/4846|934/2694|312/897|| 22 37326899 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|8/13|c.1012+27G>A|||||| 22 37328777 . T C . . ANN=C|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|8/13|c.1013-30T>C|||||| 22 37328890 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|9/14|c.1096G>A|p.Glu366Lys|1313/4846|1096/2694|366/897|| 22 37328901 . C G . . ANN=G|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|9/14|c.1107C>G|p.Asp369Glu|1324/4846|1107/2694|369/897|| 22 37328913 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|9/14|c.1119G>A|p.Glu373Glu|1336/4846|1119/2694|373/897|| 22 37328940 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|9/14|c.1146G>A|p.Thr382Thr|1363/4846|1146/2694|382/897|| 22 37328953 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|9/13|c.1152+7G>T|||||| 22 37328966 . G C . . ANN=C|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|9/13|c.1152+20G>C|||||| 22 37328968 . G C . . ANN=C|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|9/13|c.1152+22G>C|||||| 22 37329861 . T C . . ANN=C|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|9/13|c.1153-13T>C|||||| 22 37329900 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/14|c.1179C>T|p.Asn393Asn|1396/4846|1179/2694|393/897|| 22 37329915 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/14|c.1194C>T|p.Ala398Ala|1411/4846|1194/2694|398/897|| 22 37329999 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/14|c.1278C>T|p.Ser426Ser|1495/4846|1278/2694|426/897|| 22 37330000 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/14|c.1279G>A|p.Glu427Lys|1496/4846|1279/2694|427/897|| 22 37330074 . C T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/13|c.1315+38C>T|||||| 22 37330080 . C G . . ANN=G|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/13|c.1315+44C>G|||||| 22 37330082 . T C . . ANN=C|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/13|c.1315+46T>C|||||| 22 37331346 . T C . . ANN=C|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/13|c.1316-47T>C|||||| 22 37331351 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/13|c.1316-42G>A|||||| 22 37331368 . C G . . ANN=G|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|10/13|c.1316-25C>G|||||| 22 37331455 . C G . . ANN=G|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|11/14|c.1378C>G|p.Leu460Val|1595/4846|1378/2694|460/897|| 22 37331648 . T C . . ANN=C|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|11/13|c.1407-24T>C|||||| 22 37331657 . C T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|11/13|c.1407-15C>T|||||| 22 37331658 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|11/13|c.1407-14G>A|||||| 22 37331663 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|11/13|c.1407-9G>A|||||| 22 37331746 . A T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|12/13|c.1464+17A>T|||||| 22 37331752 . G C . . ANN=C|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|12/13|c.1464+23G>C|||||| 22 37332543 . C T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|12/13|c.1465-48C>T|||||| 22 37332546 . C T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|12/13|c.1465-45C>T|||||| 22 37332547 . G A . . ANN=A|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|12/13|c.1465-44G>A|||||| 22 37332557 . A T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|12/13|c.1465-34A>T|||||| 22 37332560 . C T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|12/13|c.1465-31C>T|||||| 22 37332629 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|13/14|c.1503G>A|p.Ser501Ser|1720/4846|1503/2694|501/897|| 22 37332649 . C A . . ANN=A|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|13/14|c.1523C>A|p.Pro508His|1740/4846|1523/2694|508/897|| 22 37332723 . C T . . ANN=T|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|13/13|c.1568+29C>T|||||| 22 37333406 . T G . . ANN=G|intron_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|13/13|c.1569-13T>G|||||| 22 37333414 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|13/13|c.1569-5C>T|||||| 22 37333443 . C G . . ANN=G|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.1593C>G|p.Asp531Glu|1810/4846|1593/2694|531/897|| 22 37333446 . C T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.1596C>T|p.Ser532Ser|1813/4846|1596/2694|532/897|| 22 37333606 . A G . . ANN=G|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.1756A>G|p.Ser586Gly|1973/4846|1756/2694|586/897|| 22 37333657 . C A . . ANN=A|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.1807C>A|p.Pro603Thr|2024/4846|1807/2694|603/897|| 22 37333676 . C T . . ANN=T|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.1826C>T|p.Pro609Leu|2043/4846|1826/2694|609/897|| 22 37333794 . A G . . ANN=G|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.1944A>G|p.Pro648Pro|2161/4846|1944/2694|648/897|| 22 37333804 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.1954G>A|p.Val652Met|2171/4846|1954/2694|652/897|| 22 37333828 . CA C . . ANN=C|frameshift_variant|HIGH|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.1979delA|p.Gln660fs|2196/4846|1979/2694|660/897||;LOF=(CSF2RB|CSF2RB|1|1.00) 22 37333900 . G C . . ANN=C|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2050G>C|p.Gly684Arg|2267/4846|2050/2694|684/897|| 22 37333936 . C T . . ANN=T|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2086C>T|p.Pro696Ser|2303/4846|2086/2694|696/897|| 22 37334211 . T C . . ANN=C|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2361T>C|p.Pro787Pro|2578/4846|2361/2694|787/897|| 22 37334250 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2400G>A|p.Pro800Pro|2617/4846|2400/2694|800/897|| 22 37334280 . C A . . ANN=A|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2430C>A|p.Pro810Pro|2647/4846|2430/2694|810/897|| 22 37334352 . G T . . ANN=T|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2502G>T|p.Ser834Ser|2719/4846|2502/2694|834/897|| 22 37334375 . C T . . ANN=T|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2525C>T|p.Pro842Leu|2742/4846|2525/2694|842/897|| 22 37334376 . G A . . ANN=A|synonymous_variant|LOW|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2526G>A|p.Pro842Pro|2743/4846|2526/2694|842/897|| 22 37334383 . G A . . ANN=A|missense_variant|MODERATE|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.2533G>A|p.Gly845Ser|2750/4846|2533/2694|845/897|| 22 37334550 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CSF2RB|CSF2RB|transcript|NM_000395.2|Coding|14/14|c.*6C>T|||||6| 22 37387226 . C G . . ANN=G|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|6/6|c.837G>C|p.Lys279Asn|983/1049|837/843|279/280||,G|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|6/6|c.582G>C|p.Lys194Asn|964/1030|582/588|194/195|| 22 37387244 . G A . . ANN=A|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_001163857.1|Coding|6/6|c.819C>T|p.Ser273Ser|965/1049|819/843|273/280||,A|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|6/6|c.564C>T|p.Ser188Ser|946/1030|564/588|188/195|| 22 37387257 . T C . . ANN=C|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|6/6|c.806A>G|p.Tyr269Cys|952/1049|806/843|269/280||,C|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|6/6|c.551A>G|p.Tyr184Cys|933/1030|551/588|184/195|| 22 37387283 . G A . . ANN=A|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_001163857.1|Coding|6/6|c.780C>T|p.Asn260Asn|926/1049|780/843|260/280||,A|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|6/6|c.525C>T|p.Asn175Asn|907/1030|525/588|175/195|| 22 37387475 . G A . . ANN=A|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_001163857.1|Coding|5/5|c.745+47C>T||||||,A|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_178552.3|Coding|5/5|c.490+47C>T|||||| 22 37387505 . C A . . ANN=A|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_001163857.1|Coding|5/5|c.745+17G>T||||||,A|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_178552.3|Coding|5/5|c.490+17G>T|||||| 22 37387532 . C T . . ANN=T|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_001163857.1|Coding|5/6|c.735G>A|p.Thr245Thr|881/1049|735/843|245/280||,T|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|5/6|c.480G>A|p.Thr160Thr|862/1030|480/588|160/195|| 22 37387589 . T C . . ANN=C|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_001163857.1|Coding|5/6|c.678A>G|p.Thr226Thr|824/1049|678/843|226/280||,C|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|5/6|c.423A>G|p.Thr141Thr|805/1030|423/588|141/195|| 22 37387646 . T A . . ANN=A|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_001163857.1|Coding|4/5|c.635-14A>T||||||,A|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_178552.3|Coding|4/5|c.380-14A>T|||||| 22 37395853 . C T . . ANN=T|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_001163857.1|Coding|4/5|c.634+28G>A||||||,T|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_178552.3|Coding|4/5|c.379+28G>A|||||| 22 37395935 . C T . . ANN=T|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|4/6|c.580G>A|p.Val194Ile|726/1049|580/843|194/280||,T|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|4/6|c.325G>A|p.Val109Ile|707/1030|325/588|109/195|| 22 37395975 . T C . . ANN=C|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_001163857.1|Coding|4/6|c.540A>G|p.Ser180Ser|686/1049|540/843|180/280||,C|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|4/6|c.285A>G|p.Ser95Ser|667/1030|285/588|95/195|| 22 37395999 . G A . . ANN=A|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_001163857.1|Coding|4/6|c.516C>T|p.Phe172Phe|662/1049|516/843|172/280||,A|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|4/6|c.261C>T|p.Phe87Phe|643/1030|261/588|87/195|| 22 37396024 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|4/6|c.491C>G|p.Ala164Gly|637/1049|491/843|164/280||,C|missense_variant&splice_region_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|4/6|c.236C>G|p.Ala79Gly|618/1030|236/588|79/195|| 22 37396053 . A G . . ANN=G|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/5|c.490-28T>C||||||,G|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_178552.3|Coding|3/5|c.235-28T>C|||||| 22 37396054 . G A . . ANN=A|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/5|c.490-29C>T||||||,A|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_178552.3|Coding|3/5|c.235-29C>T|||||| 22 37397859 . C T . . ANN=T|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/5|c.489+19G>A||||||,T|intron_variant|MODIFIER|TEX33|TEX33|transcript|NM_178552.3|Coding|3/5|c.234+19G>A|||||| 22 37397876 . A G . . ANN=G|splice_donor_variant&intron_variant|HIGH|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/5|c.489+2T>C||||||,G|splice_donor_variant&intron_variant|HIGH|TEX33|TEX33|transcript|NM_178552.3|Coding|3/5|c.234+2T>C||||||;LOF=(TEX33|TEX33|2|1.00) 22 37397896 . C T . . ANN=T|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.471G>A|p.Gln157Gln|617/1049|471/843|157/280||,T|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.216G>A|p.Gln72Gln|598/1030|216/588|72/195|| 22 37397934 . T C . . ANN=C|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.433A>G|p.Asn145Asp|579/1049|433/843|145/280||,C|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.178A>G|p.Asn60Asp|560/1030|178/588|60/195|| 22 37397942 . A C . . ANN=C|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.425T>G|p.Ile142Ser|571/1049|425/843|142/280||,C|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.170T>G|p.Ile57Ser|552/1030|170/588|57/195|| 22 37397996 . C T . . ANN=T|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.371G>A|p.Ser124Asn|517/1049|371/843|124/280||,T|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.116G>A|p.Ser39Asn|498/1030|116/588|39/195|| 22 37398011 . G A . . ANN=A|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.356C>T|p.Thr119Met|502/1049|356/843|119/280||,A|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.101C>T|p.Thr34Met|483/1030|101/588|34/195|| 22 37398040 . C T . . ANN=T|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.327G>A|p.Ser109Ser|473/1049|327/843|109/280||,T|synonymous_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.72G>A|p.Ser24Ser|454/1030|72/588|24/195|| 22 37398041 . G A . . ANN=A|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.326C>T|p.Ser109Leu|472/1049|326/843|109/280||,A|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.71C>T|p.Ser24Leu|453/1030|71/588|24/195|| 22 37398062 . G A . . ANN=A|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.305C>T|p.Ser102Leu|451/1049|305/843|102/280||,A|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.50C>T|p.Ser17Leu|432/1030|50/588|17/195|| 22 37398102 . G A . . ANN=A|stop_gained|HIGH|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.265C>T|p.Gln89*|411/1049|265/843|89/280||,A|stop_gained|HIGH|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.10C>T|p.Gln4*|392/1030|10/588|4/195||;LOF=(TEX33|TEX33|2|1.00);NMD=(TEX33|TEX33|2|1.00) 22 37398140 . G A . . ANN=A|missense_variant|MODERATE|TEX33|TEX33|transcript|NM_001163857.1|Coding|3/6|c.227C>T|p.Pro76Leu|373/1049|227/843|76/280||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.-29C>T||||||,A|5_prime_UTR_variant|MODIFIER|TEX33|TEX33|transcript|NM_178552.3|Coding|3/6|c.-29C>T|||||29| 22 37407020 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.*48C>G|||||48|,C|3_prime_UTR_variant|MODIFIER|TST|TST|transcript|NM_003312.5|Coding|3/3|c.*48C>G|||||48| 22 37407064 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.*4G>A|||||4|,T|3_prime_UTR_variant|MODIFIER|TST|TST|transcript|NM_003312.5|Coding|3/3|c.*4G>A|||||4| 22 37407084 . T C . . ANN=C|missense_variant|MODERATE|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.878A>G|p.Lys293Arg|921/1105|878/894|293/297||,C|missense_variant|MODERATE|TST|TST|transcript|NM_003312.5|Coding|3/3|c.878A>G|p.Lys293Arg|953/1137|878/894|293/297|| 22 37407100 . G A . . ANN=A|missense_variant|MODERATE|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.862C>T|p.Arg288Cys|905/1105|862/894|288/297||,A|missense_variant|MODERATE|TST|TST|transcript|NM_003312.5|Coding|3/3|c.862C>T|p.Arg288Cys|937/1137|862/894|288/297|| 22 37407109 . G C . . ANN=C|missense_variant|MODERATE|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.853C>G|p.Pro285Ala|896/1105|853/894|285/297||,C|missense_variant|MODERATE|TST|TST|transcript|NM_003312.5|Coding|3/3|c.853C>G|p.Pro285Ala|928/1137|853/894|285/297|| 22 37407131 . G A . . ANN=A|synonymous_variant|LOW|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.831C>T|p.Ser277Ser|874/1105|831/894|277/297||,A|synonymous_variant|LOW|TST|TST|transcript|NM_003312.5|Coding|3/3|c.831C>T|p.Ser277Ser|906/1137|831/894|277/297|| 22 37407170 . G A . . ANN=A|synonymous_variant|LOW|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.792C>T|p.Cys264Cys|835/1105|792/894|264/297||,A|synonymous_variant|LOW|TST|TST|transcript|NM_003312.5|Coding|3/3|c.792C>T|p.Cys264Cys|867/1137|792/894|264/297|| 22 37407194 . G A . . ANN=A|synonymous_variant|LOW|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.768C>T|p.His256His|811/1105|768/894|256/297||,A|synonymous_variant|LOW|TST|TST|transcript|NM_003312.5|Coding|3/3|c.768C>T|p.His256His|843/1137|768/894|256/297|| 22 37407216 . C T . . ANN=T|missense_variant|MODERATE|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.746G>A|p.Arg249His|789/1105|746/894|249/297||,T|missense_variant|MODERATE|TST|TST|transcript|NM_003312.5|Coding|3/3|c.746G>A|p.Arg249His|821/1137|746/894|249/297|| 22 37407344 . A G . . ANN=G|synonymous_variant|LOW|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.618T>C|p.Arg206Arg|661/1105|618/894|206/297||,G|synonymous_variant|LOW|TST|TST|transcript|NM_003312.5|Coding|3/3|c.618T>C|p.Arg206Arg|693/1137|618/894|206/297|| 22 37407346 . G A . . ANN=A|missense_variant|MODERATE|TST|TST|transcript|NM_001270483.1|Coding|3/3|c.616C>T|p.Arg206Cys|659/1105|616/894|206/297||,A|missense_variant|MODERATE|TST|TST|transcript|NM_003312.5|Coding|3/3|c.616C>T|p.Arg206Cys|691/1137|616/894|206/297|| 22 37414298 . C T . . ANN=T|missense_variant|MODERATE|TST|TST|transcript|NM_001270483.1|Coding|2/3|c.476G>A|p.Arg159His|519/1105|476/894|159/297||,T|missense_variant|MODERATE|TST|TST|transcript|NM_003312.5|Coding|2/3|c.476G>A|p.Arg159His|551/1137|476/894|159/297|| 22 37414326 . G A . . ANN=A|missense_variant|MODERATE|TST|TST|transcript|NM_001270483.1|Coding|2/3|c.448C>T|p.Pro150Ser|491/1105|448/894|150/297||,A|missense_variant|MODERATE|TST|TST|transcript|NM_003312.5|Coding|2/3|c.448C>T|p.Pro150Ser|523/1137|448/894|150/297|| 22 37414468 . T G . . ANN=G|missense_variant|MODERATE|TST|TST|transcript|NM_001270483.1|Coding|2/3|c.306A>C|p.Glu102Asp|349/1105|306/894|102/297||,G|missense_variant|MODERATE|TST|TST|transcript|NM_003312.5|Coding|2/3|c.306A>C|p.Glu102Asp|381/1137|306/894|102/297|| 22 37414528 . G A . . ANN=A|synonymous_variant|LOW|TST|TST|transcript|NM_001270483.1|Coding|2/3|c.246C>T|p.Ala82Ala|289/1105|246/894|82/297||,A|synonymous_variant|LOW|TST|TST|transcript|NM_003312.5|Coding|2/3|c.246C>T|p.Ala82Ala|321/1137|246/894|82/297|| 22 37414801 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TST|TST|transcript|NM_001270483.1|Coding|1/2|c.-21-7G>A||||||,T|splice_region_variant&intron_variant|LOW|TST|TST|transcript|NM_003312.5|Coding|1/2|c.-21-7G>A|||||| 22 37415963 . C T . . ANN=T|intron_variant|MODIFIER|TST|TST|transcript|NM_001270483.1|Coding|1/2|c.-22+240G>A||||||,T|intron_variant|MODIFIER|MPST|MPST|transcript|NM_021126.5|Coding|1/2|c.36+50C>T||||||,T|intron_variant|MODIFIER|MPST|MPST|transcript|NM_001013436.2|Coding|1/2|c.-25+148C>T||||||,T|intron_variant|MODIFIER|MPST|MPST|transcript|NM_001130517.2|Coding|1/3|c.-201+148C>T|||||| 22 37420504 . C T . . ANN=T|missense_variant|MODERATE|MPST|MPST|transcript|NM_021126.5|Coding|2/3|c.308C>T|p.Ala103Val|395/1349|308/954|103/317||,T|missense_variant|MODERATE|MPST|MPST|transcript|NM_001013436.2|Coding|2/3|c.248C>T|p.Ala83Val|405/1359|248/894|83/297||,T|missense_variant|MODERATE|MPST|MPST|transcript|NM_001130517.2|Coding|3/4|c.248C>T|p.Ala83Val|581/1535|248/894|83/297|| 22 37420713 . G A . . ANN=A|missense_variant|MODERATE|MPST|MPST|transcript|NM_021126.5|Coding|2/3|c.517G>A|p.Glu173Lys|604/1349|517/954|173/317||,A|missense_variant|MODERATE|MPST|MPST|transcript|NM_001013436.2|Coding|2/3|c.457G>A|p.Glu153Lys|614/1359|457/894|153/297||,A|missense_variant|MODERATE|MPST|MPST|transcript|NM_001130517.2|Coding|3/4|c.457G>A|p.Glu153Lys|790/1535|457/894|153/297|| 22 37420890 . C T . . ANN=T|intron_variant|MODIFIER|MPST|MPST|transcript|NM_021126.5|Coding|2/2|c.655+39C>T||||||,T|intron_variant|MODIFIER|MPST|MPST|transcript|NM_001013436.2|Coding|2/2|c.595+39C>T||||||,T|intron_variant|MODIFIER|MPST|MPST|transcript|NM_001130517.2|Coding|3/3|c.595+39C>T|||||| 22 37425508 . G A . . ANN=A|missense_variant|MODERATE|MPST|MPST|transcript|NM_021126.5|Coding|3/3|c.907G>A|p.Ala303Thr|994/1349|907/954|303/317||,A|missense_variant|MODERATE|MPST|MPST|transcript|NM_001013436.2|Coding|3/3|c.847G>A|p.Ala283Thr|1004/1359|847/894|283/297||,A|missense_variant|MODERATE|MPST|MPST|transcript|NM_001130517.2|Coding|4/4|c.847G>A|p.Ala283Thr|1180/1535|847/894|283/297|| 22 37425564 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_021126.5|Coding|3/3|c.*9A>G|||||9|,G|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_001013436.2|Coding|3/3|c.*9A>G|||||9|,G|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_001130517.2|Coding|4/4|c.*9A>G|||||9| 22 37425590 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_021126.5|Coding|3/3|c.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_001013436.2|Coding|3/3|c.*35C>T|||||35|,T|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_001130517.2|Coding|4/4|c.*35C>T|||||35| 22 37425591 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_021126.5|Coding|3/3|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_001013436.2|Coding|3/3|c.*36G>A|||||36|,A|3_prime_UTR_variant|MODIFIER|MPST|MPST|transcript|NM_001130517.2|Coding|4/4|c.*36G>A|||||36| 22 37448020 . C T . . ANN=T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|1/8|c.210+31C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|1/6|c.210+31C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|1/5|c.210+31C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|1/7|c.210+31C>T|||||| 22 37452397 . G A . . ANN=A|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|3/9|c.357G>A|p.Pro119Pro|361/1766|357/966|119/321||,A|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|3/7|c.357G>A|p.Pro119Pro|361/1594|357/678|119/225||,A|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|3/6|c.357G>A|p.Pro119Pro|361/1503|357/663|119/220||,A|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_024681.3|Coding|3/8|c.357G>A|p.Pro119Pro|361/1694|357/894|119/297|| 22 37452457 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|3/8|c.411+6G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|3/6|c.411+6G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|3/5|c.411+6G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|KCTD17|transcript|NM_024681.3|Coding|3/7|c.411+6G>A|||||| 22 37452475 . C T . . ANN=T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|3/8|c.411+24C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|3/6|c.411+24C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|3/5|c.411+24C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|3/7|c.411+24C>T|||||| 22 37453452 . C T . . ANN=T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|4/9|c.426C>T|p.His142His|430/1766|426/966|142/321||,T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|4/7|c.426C>T|p.His142His|430/1594|426/678|142/225||,T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|4/6|c.426C>T|p.His142His|430/1503|426/663|142/220||,T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_024681.3|Coding|4/8|c.426C>T|p.His142His|430/1694|426/894|142/297|| 22 37453488 . C T . . ANN=T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|4/9|c.462C>T|p.Leu154Leu|466/1766|462/966|154/321||,T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|4/7|c.462C>T|p.Leu154Leu|466/1594|462/678|154/225||,T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|4/6|c.462C>T|p.Leu154Leu|466/1503|462/663|154/220||,T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_024681.3|Coding|4/8|c.462C>T|p.Leu154Leu|466/1694|462/894|154/297|| 22 37453538 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|4/8|c.507+5G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|4/6|c.507+5G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|4/5|c.507+5G>A||||||,A|splice_region_variant&intron_variant|LOW|KCTD17|KCTD17|transcript|NM_024681.3|Coding|4/7|c.507+5G>A|||||| 22 37455303 . C T . . ANN=T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|4/8|c.508-50C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|4/6|c.508-50C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|4/5|c.508-50C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|4/7|c.508-50C>T|||||| 22 37455365 . G A . . ANN=A|missense_variant|MODERATE|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|5/9|c.520G>A|p.Gly174Ser|524/1766|520/966|174/321||,A|missense_variant|MODERATE|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|5/7|c.520G>A|p.Gly174Ser|524/1594|520/678|174/225||,A|missense_variant|MODERATE|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|5/6|c.520G>A|p.Gly174Ser|524/1503|520/663|174/220||,A|missense_variant|MODERATE|KCTD17|KCTD17|transcript|NM_024681.3|Coding|5/8|c.520G>A|p.Gly174Ser|524/1694|520/894|174/297|| 22 37455506 . C T . . ANN=T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|5/8|c.633+28C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|5/6|c.633+28C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|5/5|c.633+28C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|5/7|c.633+28C>T|||||| 22 37455512 . A G . . ANN=G|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|5/8|c.633+34A>G||||||,G|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|5/6|c.633+34A>G||||||,G|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|5/5|c.633+34A>G||||||,G|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|5/7|c.633+34A>G|||||| 22 37457531 . C T . . ANN=T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|7/8|c.806-48C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|5/6|c.634-48C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|5/5|c.634-1034C>T||||||,T|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|6/7|c.734-48C>T|||||| 22 37457535 . C A,G . . ANN=A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|7/8|c.806-44C>A||||||,G|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|7/8|c.806-44C>G||||||,A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|5/6|c.634-44C>A||||||,G|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|5/6|c.634-44C>G||||||,A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|5/5|c.634-1030C>A||||||,G|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|5/5|c.634-1030C>G||||||,A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|6/7|c.734-44C>A||||||,G|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|6/7|c.734-44C>G|||||| 22 37457536 . C A . . ANN=A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|7/8|c.806-43C>A||||||,A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|5/6|c.634-43C>A||||||,A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|5/5|c.634-1029C>A||||||,A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|6/7|c.734-43C>A|||||| 22 37457585 . G A . . ANN=A|missense_variant|MODERATE|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|8/9|c.812G>A|p.Arg271His|816/1766|812/966|271/321||,A|missense_variant|MODERATE|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|6/7|c.640G>A|p.Val214Ile|644/1594|640/678|214/225||,A|missense_variant|MODERATE|KCTD17|KCTD17|transcript|NM_024681.3|Coding|7/8|c.740G>A|p.Arg247His|744/1694|740/894|247/297||,A|intron_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|5/5|c.634-980G>A|||||| 22 37458586 . C T . . ANN=T|missense_variant|MODERATE|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|6/6|c.655C>T|p.Arg219Trp|659/1503|655/663|219/220||,T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|9/9|c.918C>T|p.Pro306Pro|922/1766|918/966|306/321||,T|synonymous_variant|LOW|KCTD17|KCTD17|transcript|NM_024681.3|Coding|8/8|c.846C>T|p.Pro282Pro|850/1694|846/894|282/297||,T|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|7/7|c.*68C>T|||||963| 22 37458644 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|9/9|c.*10T>C|||||10|,C|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|7/7|c.*126T>C|||||1021|,C|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|6/6|c.*50T>C|||||50|,C|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|8/8|c.*10T>C|||||10| 22 37458668 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282684.1|Coding|9/9|c.*34G>A|||||34|,A|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282685.1|Coding|7/7|c.*150G>A|||||1045|,A|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_001282686.1|Coding|6/6|c.*74G>A|||||74|,A|3_prime_UTR_variant|MODIFIER|KCTD17|KCTD17|transcript|NM_024681.3|Coding|8/8|c.*34G>A|||||34| 22 37462096 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|19/19|c.*24G>A|||||24|,T|3_prime_UTR_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|18/18|c.*24G>A|||||24|,T|3_prime_UTR_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|18/18|c.*24G>A|||||24| 22 37462106 . AG A . . ANN=A|3_prime_UTR_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|19/19|c.*13delC|||||13|,A|3_prime_UTR_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|18/18|c.*13delC|||||13|,A|3_prime_UTR_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|18/18|c.*13delC|||||13| 22 37462173 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|19/19|c.2422G>A|p.Val808Ile|2484/3181|2422/2475|808/824||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|18/18|c.2383G>A|p.Val795Ile|2497/3194|2383/2436|795/811||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|18/18|c.2356G>A|p.Val786Ile|2428/3125|2356/2409|786/802|| 22 37462210 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|19/19|c.2385C>T|p.Ser795Ser|2447/3181|2385/2475|795/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|18/18|c.2346C>T|p.Ser782Ser|2460/3194|2346/2436|782/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|18/18|c.2319C>T|p.Ser773Ser|2391/3125|2319/2409|773/802|| 22 37462309 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|18/18|c.2317-31G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|17/17|c.2278-31G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|17/17|c.2251-31G>A|||||| 22 37462926 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|18/19|c.2256C>T|p.Tyr752Tyr|2318/3181|2256/2475|752/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|17/18|c.2217C>T|p.Tyr739Tyr|2331/3194|2217/2436|739/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|17/18|c.2190C>T|p.Tyr730Tyr|2262/3125|2190/2409|730/802|| 22 37462936 . A G . . ANN=G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|18/19|c.2246T>C|p.Val749Ala|2308/3181|2246/2475|749/824||,G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|17/18|c.2207T>C|p.Val736Ala|2321/3194|2207/2436|736/811||,G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|17/18|c.2180T>C|p.Val727Ala|2252/3125|2180/2409|727/802|| 22 37462989 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|18/19|c.2193C>T|p.Asn731Asn|2255/3181|2193/2475|731/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|17/18|c.2154C>T|p.Asn718Asn|2268/3194|2154/2436|718/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|17/18|c.2127C>T|p.Asn709Asn|2199/3125|2127/2409|709/802|| 22 37462998 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|18/19|c.2184C>T|p.Pro728Pro|2246/3181|2184/2475|728/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|17/18|c.2145C>T|p.Pro715Pro|2259/3194|2145/2436|715/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|17/18|c.2118C>T|p.Pro706Pro|2190/3125|2118/2409|706/802|| 22 37465094 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|16/18|c.2113+19C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|16/17|c.2140+19C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|16/17|c.2113+19C>T|||||| 22 37465102 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|16/18|c.2113+11G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|16/17|c.2140+11G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|16/17|c.2113+11G>A|||||| 22 37465114 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|16/19|c.2112C>T|p.Gly704Gly|2174/3181|2112/2475|704/824||,A|splice_region_variant&synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|16/18|c.2139C>T|p.Gly713Gly|2253/3194|2139/2436|713/811||,A|splice_region_variant&synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|16/18|c.2112C>T|p.Gly704Gly|2184/3125|2112/2409|704/802|| 22 37465121 . C A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|16/19|c.2105G>T|p.Arg702Leu|2167/3181|2105/2475|702/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|16/18|c.2132G>T|p.Arg711Leu|2246/3194|2132/2436|711/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|16/18|c.2105G>T|p.Arg702Leu|2177/3125|2105/2409|702/802|| 22 37465141 . A C . . ANN=C|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|16/19|c.2085T>G|p.Ile695Met|2147/3181|2085/2475|695/824||,C|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|16/18|c.2112T>G|p.Ile704Met|2226/3194|2112/2436|704/811||,C|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|16/18|c.2085T>G|p.Ile695Met|2157/3125|2085/2409|695/802|| 22 37465152 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|16/19|c.2074C>T|p.His692Tyr|2136/3181|2074/2475|692/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|16/18|c.2101C>T|p.His701Tyr|2215/3194|2101/2436|701/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|16/18|c.2074C>T|p.His692Tyr|2146/3125|2074/2409|692/802|| 22 37465222 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|16/19|c.2004G>A|p.Pro668Pro|2066/3181|2004/2475|668/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|16/18|c.2031G>A|p.Pro677Pro|2145/3194|2031/2436|677/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|16/18|c.2004G>A|p.Pro668Pro|2076/3125|2004/2409|668/802|| 22 37465385 . CTGGGG C . . ANN=C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|15/18|c.1842-6_1842-2delCCCCA||||||,C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|15/17|c.1869-6_1869-2delCCCCA||||||,C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|15/17|c.1842-6_1842-2delCCCCA||||||;LOF=(TMPRSS6|TMPRSS6|3|1.00) 22 37466493 . A G . . ANN=G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|15/18|c.1841+31T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|15/17|c.1868+31T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|15/17|c.1841+31T>C|||||| 22 37466565 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|15/19|c.1800C>T|p.Asp600Asp|1862/3181|1800/2475|600/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|15/18|c.1827C>T|p.Asp609Asp|1941/3194|1827/2436|609/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|15/18|c.1800C>T|p.Asp600Asp|1872/3125|1800/2409|600/802|| 22 37466602 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|15/19|c.1763G>A|p.Arg588Gln|1825/3181|1763/2475|588/824||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|15/18|c.1790G>A|p.Arg597Gln|1904/3194|1790/2436|597/811||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|15/18|c.1763G>A|p.Arg588Gln|1835/3125|1763/2409|588/802|| 22 37466637 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|15/19|c.1728G>A|p.Glu576Glu|1790/3181|1728/2475|576/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|15/18|c.1755G>A|p.Glu585Glu|1869/3194|1755/2436|585/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|15/18|c.1728G>A|p.Glu576Glu|1800/3125|1728/2409|576/802|| 22 37466930 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|14/18|c.1672+26C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|14/17|c.1699+26C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|14/17|c.1672+26C>T|||||| 22 37466936 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|14/18|c.1672+20C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|14/17|c.1699+20C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|14/17|c.1672+20C>T|||||| 22 37466947 . A G . . ANN=G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|14/18|c.1672+9T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|14/17|c.1699+9T>C||||||,G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|14/17|c.1672+9T>C|||||| 22 37466962 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|14/19|c.1666C>T|p.His556Tyr|1728/3181|1666/2475|556/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|14/18|c.1693C>T|p.His565Tyr|1807/3194|1693/2436|565/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|14/18|c.1666C>T|p.His556Tyr|1738/3125|1666/2409|556/802|| 22 37466978 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|14/19|c.1650C>T|p.Asp550Asp|1712/3181|1650/2475|550/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|14/18|c.1677C>T|p.Asp559Asp|1791/3194|1677/2436|559/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|14/18|c.1650C>T|p.Asp550Asp|1722/3125|1650/2409|550/802|| 22 37466992 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|14/19|c.1636C>T|p.Pro546Ser|1698/3181|1636/2475|546/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|14/18|c.1663C>T|p.Pro555Ser|1777/3194|1663/2436|555/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|14/18|c.1636C>T|p.Pro546Ser|1708/3125|1636/2409|546/802|| 22 37467001 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|14/19|c.1627G>A|p.Asp543Asn|1689/3181|1627/2475|543/824||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|14/18|c.1654G>A|p.Asp552Asn|1768/3194|1654/2436|552/811||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|14/18|c.1627G>A|p.Asp543Asn|1699/3125|1627/2409|543/802|| 22 37467103 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|13/18|c.1556-31C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|13/17|c.1583-31C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|13/17|c.1556-31C>T|||||| 22 37467106 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|13/18|c.1556-34C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|13/17|c.1583-34C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|13/17|c.1556-34C>T|||||| 22 37469555 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|13/18|c.1555+17C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|13/17|c.1582+17C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|13/17|c.1555+17C>T|||||| 22 37469591 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|13/19|c.1536C>T|p.Asp512Asp|1598/3181|1536/2475|512/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|13/18|c.1563C>T|p.Asp521Asp|1677/3194|1563/2436|521/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|13/18|c.1536C>T|p.Asp512Asp|1608/3125|1536/2409|512/802|| 22 37470604 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|12/18|c.1441+46C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|12/17|c.1468+46C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|12/17|c.1441+46C>T|||||| 22 37470623 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|12/18|c.1441+27C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|12/17|c.1468+27C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|12/17|c.1441+27C>T|||||| 22 37470635 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|12/18|c.1441+15C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|12/17|c.1468+15C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|12/17|c.1441+15C>T|||||| 22 37470638 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|12/18|c.1441+12G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|12/17|c.1468+12G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|12/17|c.1441+12G>A|||||| 22 37470640 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|12/18|c.1441+10C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|12/17|c.1468+10C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|12/17|c.1441+10C>T|||||| 22 37470665 . C G . . ANN=G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|12/19|c.1426G>C|p.Asp476His|1488/3181|1426/2475|476/824||,G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|12/18|c.1453G>C|p.Asp485His|1567/3194|1453/2436|485/811||,G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|12/18|c.1426G>C|p.Asp476His|1498/3125|1426/2409|476/802|| 22 37471153 . T A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|11/18|c.1342+22A>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|11/17|c.1369+22A>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|11/17|c.1342+22A>T|||||| 22 37471208 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|11/19|c.1309C>T|p.Arg437Trp|1371/3181|1309/2475|437/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|11/18|c.1336C>T|p.Arg446Trp|1450/3194|1336/2436|446/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|11/18|c.1309C>T|p.Arg437Trp|1381/3125|1309/2409|437/802|| 22 37471289 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|11/19|c.1228G>A|p.Ala410Thr|1290/3181|1228/2475|410/824||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|11/18|c.1255G>A|p.Ala419Thr|1369/3194|1255/2436|419/811||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|11/18|c.1228G>A|p.Ala410Thr|1300/3125|1228/2409|410/802|| 22 37471290 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|11/19|c.1227C>T|p.Tyr409Tyr|1289/3181|1227/2475|409/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|11/18|c.1254C>T|p.Tyr418Tyr|1368/3194|1254/2436|418/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|11/18|c.1227C>T|p.Tyr409Tyr|1299/3125|1227/2409|409/802|| 22 37471300 . A G . . ANN=G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|11/19|c.1217T>C|p.Leu406Pro|1279/3181|1217/2475|406/824||,G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|11/18|c.1244T>C|p.Leu415Pro|1358/3194|1244/2436|415/811||,G|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|11/18|c.1217T>C|p.Leu406Pro|1289/3125|1217/2409|406/802|| 22 37471311 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|11/19|c.1206C>T|p.Gly402Gly|1268/3181|1206/2475|402/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|11/18|c.1233C>T|p.Gly411Gly|1347/3194|1233/2436|411/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|11/18|c.1206C>T|p.Gly402Gly|1278/3125|1206/2409|402/802|| 22 37471338 . C A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|10/18|c.1197-18G>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|10/17|c.1224-18G>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|10/17|c.1197-18G>T|||||| 22 37480291 . G C . . ANN=C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|10/18|c.1196+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|10/17|c.1223+44C>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|10/17|c.1196+44C>G|||||| 22 37480294 . G T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|10/18|c.1196+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|10/17|c.1223+41C>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|10/17|c.1196+41C>A|||||| 22 37480797 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|9/19|c.1056G>A|p.Ser352Ser|1118/3181|1056/2475|352/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|9/18|c.1083G>A|p.Ser361Ser|1197/3194|1083/2436|361/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|9/18|c.1056G>A|p.Ser352Ser|1128/3125|1056/2409|352/802|| 22 37480815 . G T . . ANN=T|stop_gained|HIGH|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|9/19|c.1038C>A|p.Tyr346*|1100/3181|1038/2475|346/824||,T|stop_gained|HIGH|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|9/18|c.1065C>A|p.Tyr355*|1179/3194|1065/2436|355/811||,T|stop_gained|HIGH|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|9/18|c.1038C>A|p.Tyr346*|1110/3125|1038/2409|346/802||;LOF=(TMPRSS6|TMPRSS6|3|1.00);NMD=(TMPRSS6|TMPRSS6|3|1.00) 22 37480818 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|9/19|c.1035G>A|p.Pro345Pro|1097/3181|1035/2475|345/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|9/18|c.1062G>A|p.Pro354Pro|1176/3194|1062/2436|354/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|9/18|c.1035G>A|p.Pro345Pro|1107/3125|1035/2409|345/802|| 22 37480832 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|9/19|c.1021G>A|p.Val341Ile|1083/3181|1021/2475|341/824||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|9/18|c.1048G>A|p.Val350Ile|1162/3194|1048/2436|350/811||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|9/18|c.1021G>A|p.Val341Ile|1093/3125|1021/2409|341/802|| 22 37480833 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|9/19|c.1020C>T|p.Gly340Gly|1082/3181|1020/2475|340/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|9/18|c.1047C>T|p.Gly349Gly|1161/3194|1047/2436|349/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|9/18|c.1020C>T|p.Gly340Gly|1092/3125|1020/2409|340/802|| 22 37480861 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|9/19|c.992C>T|p.Thr331Met|1054/3181|992/2475|331/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|9/18|c.1019C>T|p.Thr340Met|1133/3194|1019/2436|340/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|9/18|c.992C>T|p.Thr331Met|1064/3125|992/2409|331/802|| 22 37482289 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|8/18|c.973+34G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|8/17|c.1000+34G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|8/17|c.973+34G>A|||||| 22 37482333 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|8/19|c.963G>A|p.Val321Val|1025/3181|963/2475|321/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|8/18|c.990G>A|p.Val330Val|1104/3194|990/2436|330/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|8/18|c.963G>A|p.Val321Val|1035/3125|963/2409|321/802|| 22 37482336 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|8/19|c.960G>A|p.Pro320Pro|1022/3181|960/2475|320/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|8/18|c.987G>A|p.Pro329Pro|1101/3194|987/2436|329/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|8/18|c.960G>A|p.Pro320Pro|1032/3125|960/2409|320/802|| 22 37482353 . C T . . ANN=T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|8/19|c.943G>A|p.Val315Met|1005/3181|943/2475|315/824||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|8/18|c.970G>A|p.Val324Met|1084/3194|970/2436|324/811||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|8/18|c.943G>A|p.Val315Met|1015/3125|943/2409|315/802|| 22 37482376 . AG A . . ANN=A|frameshift_variant|HIGH|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|8/19|c.919delC|p.Leu307fs|981/3181|919/2475|307/824||,A|frameshift_variant|HIGH|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|8/18|c.946delC|p.Leu316fs|1060/3194|946/2436|316/811||,A|frameshift_variant|HIGH|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|8/18|c.919delC|p.Leu307fs|991/3125|919/2409|307/802||;LOF=(TMPRSS6|TMPRSS6|3|1.00) 22 37482458 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|8/19|c.838G>T|p.Val280Leu|900/3181|838/2475|280/824||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|8/18|c.865G>T|p.Val289Leu|979/3194|865/2436|289/811||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|8/18|c.838G>T|p.Val280Leu|910/3125|838/2409|280/802|| 22 37485595 . T C . . ANN=C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|7/18|c.836+23A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|7/17|c.863+23A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|7/17|c.836+23A>G|||||| 22 37485618 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|7/19|c.836C>T|p.Ser279Leu|898/3181|836/2475|279/824||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|7/18|c.863C>T|p.Ser288Leu|977/3194|863/2436|288/811||,A|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|7/18|c.836C>T|p.Ser279Leu|908/3125|836/2409|279/802|| 22 37485647 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|7/19|c.807C>T|p.Ala269Ala|869/3181|807/2475|269/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|7/18|c.834C>T|p.Ala278Ala|948/3194|834/2436|278/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|7/18|c.807C>T|p.Ala269Ala|879/3125|807/2409|269/802|| 22 37485714 . A T . . ANN=T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|7/19|c.740T>A|p.Met247Lys|802/3181|740/2475|247/824||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|7/18|c.767T>A|p.Met256Lys|881/3194|767/2436|256/811||,T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|7/18|c.740T>A|p.Met247Lys|812/3125|740/2409|247/802|| 22 37485724 . T C . . ANN=C|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|7/19|c.730A>G|p.Lys244Glu|792/3181|730/2475|244/824||,C|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|7/18|c.757A>G|p.Lys253Glu|871/3194|757/2436|253/811||,C|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|7/18|c.730A>G|p.Lys244Glu|802/3125|730/2409|244/802|| 22 37485821 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|7/19|c.633T>C|p.Gly211Gly|695/3181|633/2475|211/824||,G|splice_region_variant&synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|7/18|c.660T>C|p.Gly220Gly|774/3194|660/2436|220/811||,G|splice_region_variant&synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|7/18|c.633T>C|p.Gly211Gly|705/3125|633/2409|211/802|| 22 37491545 . T C . . ANN=C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|6/18|c.631+46A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|6/17|c.658+46A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|6/17|c.631+46A>G|||||| 22 37491546 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|6/18|c.631+45C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|6/17|c.658+45C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|6/17|c.631+45C>T|||||| 22 37491573 . GA G,GAA . . ANN=G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|6/18|c.631+17delT||||||,GAA|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|6/18|c.631+16_631+17insT||||||,G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|6/17|c.658+17delT||||||,GAA|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|6/17|c.658+16_658+17insT||||||,G|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|6/17|c.631+17delT||||||,GAA|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|6/17|c.631+16_631+17insT|||||| 22 37491655 . CAAAT C . . ANN=C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/18|c.590-27_590-24delATTT||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/17|c.617-27_617-24delATTT||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/17|c.590-27_590-24delATTT|||||| 22 37491924 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/18|c.589+22G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/17|c.616+22G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/17|c.589+22G>A|||||| 22 37491956 . T G . . ANN=G|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.579A>C|p.Leu193Leu|641/3181|579/2475|193/824||,G|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.606A>C|p.Leu202Leu|720/3194|606/2436|202/811||,G|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.579A>C|p.Leu193Leu|651/3125|579/2409|193/802|| 22 37491989 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.546C>T|p.Tyr182Tyr|608/3181|546/2475|182/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.573C>T|p.Tyr191Tyr|687/3194|573/2436|191/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.546C>T|p.Tyr182Tyr|618/3125|546/2409|182/802|| 22 37491998 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.537C>T|p.Ala179Ala|599/3181|537/2475|179/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.564C>T|p.Ala188Ala|678/3194|564/2436|188/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.537C>T|p.Ala179Ala|609/3125|537/2409|179/802|| 22 37492005 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.530C>T|p.Ser177Leu|592/3181|530/2475|177/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.557C>T|p.Ser186Leu|671/3194|557/2436|186/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.530C>T|p.Ser177Leu|602/3125|530/2409|177/802|| 22 37492013 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.522C>T|p.Val174Val|584/3181|522/2475|174/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.549C>T|p.Val183Val|663/3194|549/2436|183/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.522C>T|p.Val174Val|594/3125|522/2409|174/802|| 22 37492031 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.504G>A|p.Glu168Glu|566/3181|504/2475|168/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.531G>A|p.Glu177Glu|645/3194|531/2436|177/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.504G>A|p.Glu168Glu|576/3125|504/2409|168/802|| 22 37492058 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.477C>T|p.Pro159Pro|539/3181|477/2475|159/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.504C>T|p.Pro168Pro|618/3194|504/2436|168/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.477C>T|p.Pro159Pro|549/3125|477/2409|159/802|| 22 37492078 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.457C>T|p.Arg153Cys|519/3181|457/2475|153/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.484C>T|p.Arg162Cys|598/3194|484/2436|162/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.457C>T|p.Arg153Cys|529/3125|457/2409|153/802|| 22 37492129 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|5/19|c.406G>A|p.Glu136Lys|468/3181|406/2475|136/824||,T|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|5/18|c.433G>A|p.Glu145Lys|547/3194|433/2436|145/811||,T|missense_variant&splice_region_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|5/18|c.406G>A|p.Glu136Lys|478/3125|406/2409|136/802|| 22 37492137 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|4/18|c.405-7G>A||||||,T|splice_region_variant&intron_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|4/17|c.432-7G>A||||||,T|splice_region_variant&intron_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|4/17|c.405-7G>A|||||| 22 37492159 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|4/18|c.405-29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|4/17|c.432-29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|4/17|c.405-29C>T|||||| 22 37492702 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|4/19|c.390C>T|p.Ser130Ser|452/3181|390/2475|130/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|4/18|c.417C>T|p.Ser139Ser|531/3194|417/2436|139/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|4/18|c.390C>T|p.Ser130Ser|462/3125|390/2409|130/802|| 22 37492787 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|3/18|c.337-32G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|3/17|c.364-32G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|3/17|c.337-32G>A|||||| 22 37494420 . T C . . ANN=C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|3/18|c.336+36A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|3/17|c.363+36A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|3/17|c.336+36A>G|||||| 22 37494422 . T C . . ANN=C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|3/18|c.336+34A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|3/17|c.363+34A>G||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|3/17|c.336+34A>G|||||| 22 37494485 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|3/19|c.307C>T|p.Arg103Cys|369/3181|307/2475|103/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|3/18|c.334C>T|p.Arg112Cys|448/3194|334/2436|112/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|3/18|c.307C>T|p.Arg103Cys|379/3125|307/2409|103/802|| 22 37494542 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|3/19|c.250C>T|p.Arg84Cys|312/3181|250/2475|84/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|3/18|c.277C>T|p.Arg93Cys|391/3194|277/2436|93/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|3/18|c.250C>T|p.Arg84Cys|322/3125|250/2409|84/802|| 22 37494580 . G A . . ANN=A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|3/19|c.212C>T|p.Ala71Val|274/3181|212/2475|71/824||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|3/18|c.239C>T|p.Ala80Val|353/3194|239/2436|80/811||,A|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|3/18|c.212C>T|p.Ala71Val|284/3125|212/2409|71/802|| 22 37494630 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|2/18|c.203-41C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|2/17|c.230-41C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|2/17|c.203-41C>T|||||| 22 37499235 . CA C . . ANN=C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|2/18|c.202+20delT||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|2/17|c.229+20delT||||||,C|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|2/17|c.202+20delT|||||| 22 37499239 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|2/18|c.202+17G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|2/17|c.229+17G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|2/17|c.202+17G>A|||||| 22 37499275 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|2/19|c.183G>A|p.Val61Val|245/3181|183/2475|61/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|2/18|c.210G>A|p.Val70Val|324/3194|210/2436|70/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|2/18|c.183G>A|p.Val61Val|255/3125|183/2409|61/802|| 22 37499386 . C T . . ANN=T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|2/19|c.72G>A|p.Pro24Pro|134/3181|72/2475|24/824||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|2/18|c.99G>A|p.Pro33Pro|213/3194|99/2436|33/811||,T|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|2/18|c.72G>A|p.Pro24Pro|144/3125|72/2409|24/802|| 22 37499401 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|2/19|c.57C>T|p.Gly19Gly|119/3181|57/2475|19/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|2/18|c.84C>T|p.Gly28Gly|198/3194|84/2436|28/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|2/18|c.57C>T|p.Gly19Gly|129/3125|57/2409|19/802|| 22 37499413 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|2/19|c.45C>T|p.Asp15Asp|107/3181|45/2475|15/824||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|2/18|c.72C>T|p.Asp24Asp|186/3194|72/2436|24/811||,A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|2/18|c.45C>T|p.Asp15Asp|117/3125|45/2409|15/802|| 22 37499454 . GC G . . ANN=G|frameshift_variant&start_lost|HIGH|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|2/19|c.3delG|p.Met1fs|65/3181|3/2475|1/824||,G|frameshift_variant|HIGH|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|2/18|c.30delG|p.Met10fs|144/3194|30/2436|10/811||,G|frameshift_variant&start_lost|HIGH|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|2/18|c.3delG|p.Met1fs|75/3125|3/2409|1/802||;LOF=(TMPRSS6|TMPRSS6|3|0.67) 22 37499471 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|1/18|c.-1-13G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|1/17|c.27-13G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|1/17|c.-1-13G>A|||||| 22 37499524 . C T . . ANN=T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|1/18|c.-1-66G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|1/17|c.26+30G>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|1/17|c.-1-66G>A|||||| 22 37499525 . G A . . ANN=A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|1/18|c.-1-67C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|1/17|c.26+29C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|1/17|c.-1-67C>T|||||| 22 37499565 . G A . . ANN=A|synonymous_variant|LOW|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|1/18|c.15C>T|p.Phe5Phe|129/3194|15/2436|5/811||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|1/18|c.-1-107C>T||||||,A|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|1/17|c.-1-107C>T|||||| 22 37499566 . A T . . ANN=T|missense_variant|MODERATE|TMPRSS6|TMPRSS6|transcript|NM_153609.3|Coding|1/18|c.14T>A|p.Phe5Tyr|128/3194|14/2436|5/811||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289000.1|Coding|1/18|c.-1-108T>A||||||,T|intron_variant|MODIFIER|TMPRSS6|TMPRSS6|transcript|NM_001289001.1|Coding|1/17|c.-1-108T>A|||||| 22 37524092 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.*44C>T|||||44| 22 37524245 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1547C>T|p.Pro516Leu|1678/4043|1547/1656|516/551|| 22 37524286 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1506C>T|p.Asp502Asp|1637/4043|1506/1656|502/551|| 22 37524364 . G C . . ANN=C|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1428C>G|p.Thr476Thr|1559/4043|1428/1656|476/551|| 22 37524365 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1427C>T|p.Thr476Ile|1558/4043|1427/1656|476/551|| 22 37524387 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1405C>T|p.Pro469Ser|1536/4043|1405/1656|469/551|| 22 37524388 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1404C>T|p.Asp468Asp|1535/4043|1404/1656|468/551|| 22 37524433 . C A . . ANN=A|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1359G>T|p.Glu453Asp|1490/4043|1359/1656|453/551|| 22 37524483 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1309G>A|p.Gly437Ser|1440/4043|1309/1656|437/551|| 22 37524496 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1296C>T|p.Pro432Pro|1427/4043|1296/1656|432/551|| 22 37524544 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1248C>T|p.Asp416Asp|1379/4043|1248/1656|416/551|| 22 37524559 . C G . . ANN=G|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1233G>C|p.Leu411Leu|1364/4043|1233/1656|411/551|| 22 37524600 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1192G>A|p.Gly398Arg|1323/4043|1192/1656|398/551|| 22 37524619 . G T . . ANN=T|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1173C>A|p.Asp391Glu|1304/4043|1173/1656|391/551|| 22 37524640 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1152C>T|p.Tyr384Tyr|1283/4043|1152/1656|384/551|| 22 37524683 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.1109C>T|p.Pro370Leu|1240/4043|1109/1656|370/551|| 22 37524843 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|10/10|c.949G>A|p.Gly317Ser|1080/4043|949/1656|317/551|| 22 37528548 . G T . . ANN=T|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|8/9|c.819-40C>A|||||| 22 37531321 . C T . . ANN=T|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|8/9|c.818+47G>A|||||| 22 37531375 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|8/10|c.811G>A|p.Gly271Arg|942/4043|811/1656|271/551|| 22 37531376 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|8/10|c.810C>T|p.Thr270Thr|941/4043|810/1656|270/551|| 22 37531379 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|8/10|c.807C>T|p.Asn269Asn|938/4043|807/1656|269/551|| 22 37531430 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|8/10|c.756C>T|p.Ser252Ser|887/4043|756/1656|252/551|| 22 37531436 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|8/10|c.750C>T|p.Gly250Gly|881/4043|750/1656|250/551|| 22 37531521 . G C . . ANN=C|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|7/9|c.704-39C>G|||||| 22 37532221 . G A . . ANN=A|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|7/9|c.703+47C>T|||||| 22 37532255 . C T . . ANN=T|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|7/9|c.703+13G>A|||||| 22 37532381 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|7/10|c.590C>T|p.Thr197Met|721/4043|590/1656|197/551|| 22 37532441 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|6/9|c.538-8C>T|||||| 22 37532445 . A T . . ANN=T|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|6/9|c.538-12T>A|||||| 22 37533607 . G A . . ANN=A|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|6/9|c.537+20C>T|||||| 22 37533705 . T G . . ANN=G|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|6/10|c.459A>C|p.Glu153Asp|590/4043|459/1656|153/551|| 22 37533763 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|6/10|c.401C>T|p.Ala134Val|532/4043|401/1656|134/551|| 22 37533783 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|5/9|c.389-8G>A|||||| 22 37533786 . C G . . ANN=G|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|5/9|c.389-11G>C|||||| 22 37533792 . G A . . ANN=A|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|5/9|c.389-17C>T|||||| 22 37533795 . G C . . ANN=C|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|5/9|c.389-20C>G|||||| 22 37533823 . C T . . ANN=T|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|5/9|c.389-48G>A|||||| 22 37535130 . C T . . ANN=T|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|5/9|c.388+27G>A|||||| 22 37535236 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|5/10|c.309C>T|p.Ile103Ile|440/4043|309/1656|103/551|| 22 37535248 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|5/10|c.297C>T|p.Thr99Thr|428/4043|297/1656|99/551|| 22 37538508 . G A . . ANN=A|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|4/10|c.248C>T|p.Ser83Phe|379/4043|248/1656|83/551|| 22 37538521 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|4/10|c.235G>A|p.Val79Met|366/4043|235/1656|79/551|| 22 37538522 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|4/10|c.234C>T|p.Pro78Pro|365/4043|234/1656|78/551|| 22 37538531 . C G . . ANN=G|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|4/10|c.225G>C|p.Glu75Asp|356/4043|225/1656|75/551|| 22 37538551 . G C . . ANN=C|missense_variant&splice_region_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|4/10|c.205C>G|p.Arg69Gly|336/4043|205/1656|69/551|| 22 37538565 . A G . . ANN=G|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|3/9|c.204-13T>C|||||| 22 37539638 . G A . . ANN=A|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|3/10|c.126C>T|p.Ala42Ala|257/4043|126/1656|42/551|| 22 37539644 . C T . . ANN=T|synonymous_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|3/10|c.120G>A|p.Ser40Ser|251/4043|120/1656|40/551|| 22 37539709 . T A . . ANN=A|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|2/9|c.89-34A>T|||||| 22 37539713 . T C . . ANN=C|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|2/9|c.89-38A>G|||||| 22 37540101 . C T . . ANN=T|intron_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|2/9|c.88+24G>A|||||| 22 37540122 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|2/9|c.88+3G>A|||||| 22 37540185 . G C . . ANN=C|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|2/10|c.28C>G|p.Leu10Val|159/4043|28/1656|10/551|| 22 37540187 . C T . . ANN=T|missense_variant|MODERATE|IL2RB|IL2RB|transcript|NM_000878.3|Coding|2/10|c.26G>A|p.Arg9His|157/4043|26/1656|9/551|| 22 37540233 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL2RB|IL2RB|transcript|NM_000878.3|Coding|2/10|c.-21C>T||||||,A|5_prime_UTR_variant|MODIFIER|IL2RB|IL2RB|transcript|NM_000878.3|Coding|2/10|c.-21C>T|||||21| 22 37578180 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.*48G>A|||||48|,T|intron_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/3|c.*36+12G>A|||||| 22 37578207 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.*21C>T|||||21| 22 37578214 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.*14A>G|||||14|,C|3_prime_UTR_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.*14A>G|||||14| 22 37578337 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.728G>A|p.Arg243His|805/2936|728/837|243/278||,T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.728G>A|p.Arg243His|805/1652|728/837|243/278|| 22 37578345 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.720C>T|p.Tyr240Tyr|797/2936|720/837|240/278||,A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.720C>T|p.Tyr240Tyr|797/1652|720/837|240/278|| 22 37578388 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.677G>A|p.Arg226His|754/2936|677/837|226/278||,T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.677G>A|p.Arg226His|754/1652|677/837|226/278|| 22 37578403 . G A . . ANN=A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.662C>T|p.Ala221Val|739/2936|662/837|221/278||,A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.662C>T|p.Ala221Val|739/1652|662/837|221/278|| 22 37578419 . C A . . ANN=A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.646G>T|p.Ala216Ser|723/2936|646/837|216/278||,A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.646G>T|p.Ala216Ser|723/1652|646/837|216/278|| 22 37578447 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.618C>T|p.Tyr206Tyr|695/2936|618/837|206/278||,A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.618C>T|p.Tyr206Tyr|695/1652|618/837|206/278|| 22 37578471 . G T . . ANN=T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.594C>A|p.His198Gln|671/2936|594/837|198/278||,T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.594C>A|p.His198Gln|671/1652|594/837|198/278|| 22 37578488 . A C . . ANN=C|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.577T>G|p.Phe193Val|654/2936|577/837|193/278||,C|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.577T>G|p.Phe193Val|654/1652|577/837|193/278|| 22 37578502 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.563G>A|p.Arg188His|640/2936|563/837|188/278||,T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.563G>A|p.Arg188His|640/1652|563/837|188/278|| 22 37578570 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.495C>T|p.Phe165Phe|572/2936|495/837|165/278||,A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.495C>T|p.Phe165Phe|572/1652|495/837|165/278|| 22 37578579 . C T . . ANN=T|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.486G>A|p.Thr162Thr|563/2936|486/837|162/278||,T|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.486G>A|p.Thr162Thr|563/1652|486/837|162/278|| 22 37578633 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.432C>T|p.Phe144Phe|509/2936|432/837|144/278||,A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.432C>T|p.Phe144Phe|509/1652|432/837|144/278|| 22 37578652 . G A . . ANN=A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.413C>T|p.Pro138Leu|490/2936|413/837|138/278||,A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.413C>T|p.Pro138Leu|490/1652|413/837|138/278|| 22 37578681 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|3/3|c.384C>T|p.Asp128Asp|461/2936|384/837|128/278||,A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|3/4|c.384C>T|p.Asp128Asp|461/1652|384/837|128/278|| 22 37578807 . G A . . ANN=A|intron_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/2|c.290-32C>T||||||,A|intron_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/3|c.290-32C>T|||||| 22 37581243 . C T . . ANN=T|intron_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/2|c.289+15G>A||||||,T|intron_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/3|c.289+15G>A|||||| 22 37581271 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.276C>T|p.Ile92Ile|353/2936|276/837|92/278||,A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.276C>T|p.Ile92Ile|353/1652|276/837|92/278|| 22 37581353 . G C . . ANN=C|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.194C>G|p.Pro65Arg|271/2936|194/837|65/278||,C|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.194C>G|p.Pro65Arg|271/1652|194/837|65/278|| 22 37581383 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.164G>A|p.Gly55Asp|241/2936|164/837|55/278||,T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.164G>A|p.Gly55Asp|241/1652|164/837|55/278|| 22 37581420 . T C . . ANN=C|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.127A>G|p.Met43Val|204/2936|127/837|43/278||,C|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.127A>G|p.Met43Val|204/1652|127/837|43/278|| 22 37581422 . G C . . ANN=C|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.125C>G|p.Pro42Arg|202/2936|125/837|42/278||,C|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.125C>G|p.Pro42Arg|202/1652|125/837|42/278|| 22 37581455 . G A . . ANN=A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.92C>T|p.Ala31Val|169/2936|92/837|31/278||,A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.92C>T|p.Ala31Val|169/1652|92/837|31/278|| 22 37581457 . T C . . ANN=C|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.90A>G|p.Ala30Ala|167/2936|90/837|30/278||,C|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.90A>G|p.Ala30Ala|167/1652|90/837|30/278|| 22 37581477 . C T . . ANN=T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.70G>A|p.Ala24Thr|147/2936|70/837|24/278||,T|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.70G>A|p.Ala24Thr|147/1652|70/837|24/278|| 22 37581478 . G A . . ANN=A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.69C>T|p.Ala23Ala|146/2936|69/837|23/278||,A|synonymous_variant|LOW|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.69C>T|p.Ala23Ala|146/1652|69/837|23/278|| 22 37581485 . C A . . ANN=A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|2/3|c.62G>T|p.Gly21Val|139/2936|62/837|21/278||,A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|2/4|c.62G>T|p.Gly21Val|139/1652|62/837|21/278|| 22 37581538 . A G . . ANN=G|intron_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|1/2|c.52-43T>C||||||,G|intron_variant|MODIFIER|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|1/3|c.52-43T>C|||||| 22 37584228 . G A . . ANN=A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_031910.3|Coding|1/3|c.26C>T|p.Ser9Leu|103/2936|26/837|9/278||,A|missense_variant|MODERATE|C1QTNF6|C1QTNF6|transcript|NM_182486.1|Coding|1/4|c.26C>T|p.Ser9Leu|103/1652|26/837|9/278|| 22 37602543 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.*43C>T|||||43|,A|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.*43C>T|||||43| 22 37602581 . A AG . . ANN=AG|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.*4dupC|||||4|,AG|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.*4dupC|||||4| 22 37602583 . G GC . . ANN=GC|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.*2dupG|||||2|,GC|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.*2dupG|||||2| 22 37602584 . C CA,CT . . ANN=CA|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.*1_*2insT|||||1|,CT|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.*1_*2insA|||||1|,CA|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.*1_*2insT|||||1|,CT|3_prime_UTR_variant|MODIFIER|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.*1_*2insA|||||1| 22 37602585 . C CA . . ANN=CA|frameshift_variant|HIGH|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1257_*1insT||1845/4154|1257/1257|419/418||,CA|frameshift_variant|HIGH|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1257_*1insT||1438/3747|1257/1257|419/418|| 22 37602586 . C CA . . ANN=CA|frameshift_variant&stop_lost|HIGH|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1256_1257insT|p.Ter419fs|1844/4154|1256/1257|419/418||,CA|frameshift_variant&stop_lost|HIGH|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1256_1257insT|p.Ter419fs|1437/3747|1256/1257|419/418|| 22 37602602 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1241G>A|p.Arg414His|1829/4154|1241/1257|414/418||,T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1241G>A|p.Arg414His|1422/3747|1241/1257|414/418|| 22 37602611 . C G . . ANN=G|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1232G>C|p.Ser411Thr|1820/4154|1232/1257|411/418||,G|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1232G>C|p.Ser411Thr|1413/3747|1232/1257|411/418|| 22 37602682 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1161G>A|p.Arg387Arg|1749/4154|1161/1257|387/418||,T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1161G>A|p.Arg387Arg|1342/3747|1161/1257|387/418|| 22 37602754 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1089G>A|p.Glu363Glu|1677/4154|1089/1257|363/418||,T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1089G>A|p.Glu363Glu|1270/3747|1089/1257|363/418|| 22 37602779 . T C . . ANN=C|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1064A>G|p.Glu355Gly|1652/4154|1064/1257|355/418||,C|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1064A>G|p.Glu355Gly|1245/3747|1064/1257|355/418|| 22 37602809 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1034C>T|p.Pro345Leu|1622/4154|1034/1257|345/418||,A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1034C>T|p.Pro345Leu|1215/3747|1034/1257|345/418|| 22 37602822 . T C . . ANN=C|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1021A>G|p.Thr341Ala|1609/4154|1021/1257|341/418||,C|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1021A>G|p.Thr341Ala|1202/3747|1021/1257|341/418|| 22 37602837 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.1006C>T|p.Arg336Cys|1594/4154|1006/1257|336/418||,A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.1006C>T|p.Arg336Cys|1187/3747|1006/1257|336/418|| 22 37602850 . G C . . ANN=C|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.993C>G|p.Pro331Pro|1581/4154|993/1257|331/418||,C|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.993C>G|p.Pro331Pro|1174/3747|993/1257|331/418|| 22 37602984 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.859G>A|p.Glu287Lys|1447/4154|859/1257|287/418||,T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.859G>A|p.Glu287Lys|1040/3747|859/1257|287/418|| 22 37602985 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.858C>T|p.Pro286Pro|1446/4154|858/1257|286/418||,A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.858C>T|p.Pro286Pro|1039/3747|858/1257|286/418|| 22 37603021 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.822C>T|p.Tyr274Tyr|1410/4154|822/1257|274/418||,A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.822C>T|p.Tyr274Tyr|1003/3747|822/1257|274/418|| 22 37603051 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.792G>A|p.Ala264Ala|1380/4154|792/1257|264/418||,T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.792G>A|p.Ala264Ala|973/3747|792/1257|264/418|| 22 37603073 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.770G>A|p.Arg257His|1358/4154|770/1257|257/418||,T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.770G>A|p.Arg257His|951/3747|770/1257|257/418|| 22 37603112 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.731C>T|p.Ser244Leu|1319/4154|731/1257|244/418||,A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.731C>T|p.Ser244Leu|912/3747|731/1257|244/418|| 22 37603127 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.716G>A|p.Arg239Gln|1304/4154|716/1257|239/418||,T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.716G>A|p.Arg239Gln|897/3747|716/1257|239/418|| 22 37603213 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.630G>A|p.Thr210Thr|1218/4154|630/1257|210/418||,T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.630G>A|p.Thr210Thr|811/3747|630/1257|210/418|| 22 37603311 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.532G>A|p.Val178Met|1120/4154|532/1257|178/418||,T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.532G>A|p.Val178Met|713/3747|532/1257|178/418|| 22 37603326 . C T . . ANN=T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.517G>A|p.Val173Met|1105/4154|517/1257|173/418||,T|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.517G>A|p.Val173Met|698/3747|517/1257|173/418|| 22 37603327 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.516C>T|p.Ala172Ala|1104/4154|516/1257|172/418||,A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.516C>T|p.Ala172Ala|697/3747|516/1257|172/418|| 22 37603351 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.492C>T|p.Ser164Ser|1080/4154|492/1257|164/418||,A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.492C>T|p.Ser164Ser|673/3747|492/1257|164/418|| 22 37603358 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.485C>T|p.Thr162Met|1073/4154|485/1257|162/418||,A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.485C>T|p.Thr162Met|666/3747|485/1257|162/418|| 22 37603372 . A G . . ANN=G|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.471T>C|p.Ala157Ala|1059/4154|471/1257|157/418||,G|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.471T>C|p.Ala157Ala|652/3747|471/1257|157/418|| 22 37603390 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.453G>A|p.Ser151Ser|1041/4154|453/1257|151/418||,T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.453G>A|p.Ser151Ser|634/3747|453/1257|151/418|| 22 37603391 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.452C>T|p.Ser151Leu|1040/4154|452/1257|151/418||,A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.452C>T|p.Ser151Leu|633/3747|452/1257|151/418|| 22 37603414 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.429G>A|p.Leu143Leu|1017/4154|429/1257|143/418||,T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.429G>A|p.Leu143Leu|610/3747|429/1257|143/418|| 22 37603531 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.312C>T|p.Asn104Asn|900/4154|312/1257|104/418||,A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.312C>T|p.Asn104Asn|493/3747|312/1257|104/418|| 22 37603603 . G A . . ANN=A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.240C>T|p.Asn80Asn|828/4154|240/1257|80/418||,A|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.240C>T|p.Asn80Asn|421/3747|240/1257|80/418|| 22 37603654 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.189G>A|p.Ser63Ser|777/4154|189/1257|63/418||,T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.189G>A|p.Ser63Ser|370/3747|189/1257|63/418|| 22 37603733 . G A . . ANN=A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.110C>T|p.Pro37Leu|698/4154|110/1257|37/418||,A|missense_variant|MODERATE|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.110C>T|p.Pro37Leu|291/3747|110/1257|37/418|| 22 37603744 . C T . . ANN=T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001051.4|Coding|2/2|c.99G>A|p.Ala33Ala|687/4154|99/1257|33/418||,T|synonymous_variant|LOW|SSTR3|SSTR3|transcript|NM_001278687.2|Coding|2/2|c.99G>A|p.Ala33Ala|280/3747|99/1257|33/418|| 22 37622731 . G A . . ANN=A|synonymous_variant|LOW|RAC2|RAC2|transcript|NM_002872.4|Coding|6/7|c.561C>T|p.Arg187Arg|712/1511|561/579|187/192|| 22 37622791 . G A . . ANN=A|synonymous_variant|LOW|RAC2|RAC2|transcript|NM_002872.4|Coding|6/7|c.501C>T|p.Thr167Thr|652/1511|501/579|167/192|| 22 37622815 . A G . . ANN=G|synonymous_variant|LOW|RAC2|RAC2|transcript|NM_002872.4|Coding|6/7|c.477T>C|p.Ala159Ala|628/1511|477/579|159/192|| 22 37622861 . C A . . ANN=A|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|5/6|c.449-18G>T|||||| 22 37622880 . G GT . . ANN=GT|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|5/6|c.449-38_449-37insA|||||| 22 37622881 . T TTG . . ANN=TTG|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|5/6|c.449-39_449-38insCA|||||| 22 37622883 . GC G . . ANN=G|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|5/6|c.449-41delG|||||| 22 37622884 . CG C . . ANN=C|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|5/6|c.449-42delC|||||| 22 37622888 . G GT . . ANN=GT|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|5/6|c.449-46_449-45insA|||||| 22 37627234 . T C . . ANN=C|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|5/6|c.448+37A>G|||||| 22 37627246 . G C . . ANN=C|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|5/6|c.448+25C>G|||||| 22 37627480 . G A . . ANN=A|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|4/6|c.289-50C>T|||||| 22 37627978 . G A . . ANN=A|synonymous_variant|LOW|RAC2|RAC2|transcript|NM_002872.4|Coding|4/7|c.282C>T|p.Arg94Arg|433/1511|282/579|94/192|| 22 37628008 . G A . . ANN=A|synonymous_variant|LOW|RAC2|RAC2|transcript|NM_002872.4|Coding|4/7|c.252C>T|p.Leu84Leu|403/1511|252/579|84/192|| 22 37628050 . G A . . ANN=A|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|3/6|c.226-16C>T|||||| 22 37628053 . A AG . . ANN=AG|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|3/6|c.226-20_226-19insC|||||| 22 37628054 . G GT . . ANN=GT|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|3/6|c.226-21_226-20insA|||||| 22 37628055 . G GT . . ANN=GT|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|3/6|c.226-22_226-21insA|||||| 22 37628993 . T G . . ANN=G|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|2/6|c.108-35A>C|||||| 22 37629002 . C T . . ANN=T|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|2/6|c.108-44G>A|||||| 22 37637578 . GA G . . ANN=G|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|2/6|c.107+48delT|||||| 22 37637581 . G A . . ANN=A|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|2/6|c.107+46C>T|||||| 22 37637607 . A G . . ANN=G|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|2/6|c.107+20T>C|||||| 22 37637653 . G C . . ANN=C|synonymous_variant|LOW|RAC2|RAC2|transcript|NM_002872.4|Coding|2/7|c.81C>G|p.Ala27Ala|232/1511|81/579|27/192|| 22 37637743 . C T . . ANN=T|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|1/6|c.36-45G>A|||||| 22 37640138 . C T . . ANN=T|intron_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|1/6|c.35+16G>A|||||| 22 37640232 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|RAC2|RAC2|transcript|NM_002872.4|Coding|1/7|c.-44G>A|||||44| 22 37678565 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|1/13|c.-46G>A|||||46| 22 37678572 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|1/13|c.-39G>C|||||39| 22 37678575 . A T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|1/13|c.-36A>T||||||,T|5_prime_UTR_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|1/13|c.-36A>T|||||36| 22 37678588 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|1/13|c.-23A>G|||||23| 22 37678661 . C A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|1/12|c.19+32C>A|||||| 22 37688646 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|1/12|c.20-16G>A|||||| 22 37688753 . A G . . ANN=G|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|2/12|c.102+9A>G|||||| 22 37688758 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|2/12|c.102+14C>T|||||| 22 37688770 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|2/12|c.102+26C>T|||||| 22 37690683 . G T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|2/12|c.103-18G>T|||||| 22 37690757 . G A . . ANN=A|synonymous_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|3/13|c.159G>A|p.Ala53Ala|275/3138|159/1185|53/394|| 22 37690807 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|3/12|c.167+42G>A|||||| 22 37690808 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|3/12|c.167+43C>T|||||| 22 37692024 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|3/12|c.168-16G>A|||||| 22 37692092 . A G . . ANN=G|missense_variant|MODERATE|CYTH4|CYTH4|transcript|NM_013385.3|Coding|4/13|c.220A>G|p.Met74Val|336/3138|220/1185|74/394|| 22 37692120 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|4/12|c.234+14G>A|||||| 22 37693632 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|5/13|c.262C>T|p.Leu88Leu|378/3138|262/1185|88/394|| 22 37693646 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|5/13|c.276C>T|p.Asp92Asp|392/3138|276/1185|92/394|| 22 37693689 . A C . . ANN=C|missense_variant|MODERATE|CYTH4|CYTH4|transcript|NM_013385.3|Coding|5/13|c.319A>C|p.Asn107His|435/3138|319/1185|107/394|| 22 37693732 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|5/12|c.353+9G>A|||||| 22 37693760 . A C . . ANN=C|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|5/12|c.353+37A>C|||||| 22 37693761 . A C . . ANN=C|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|5/12|c.353+38A>C|||||| 22 37695256 . T C . . ANN=C|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|5/12|c.354-11T>C|||||| 22 37696906 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|6/12|c.435-42G>A|||||| 22 37696927 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|6/12|c.435-21G>A|||||| 22 37696934 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|6/12|c.435-14C>T|||||| 22 37696978 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|7/13|c.465C>T|p.Gly155Gly|581/3138|465/1185|155/394|| 22 37697110 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|7/12|c.547+50C>T|||||| 22 37699262 . G C . . ANN=C|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|7/12|c.548-33G>C|||||| 22 37699279 . G A . . ANN=A|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|7/12|c.548-16G>A|||||| 22 37699323 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|8/13|c.576C>T|p.Ile192Ile|692/3138|576/1185|192/394|| 22 37699377 . T C . . ANN=C|synonymous_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|8/13|c.630T>C|p.Phe210Phe|746/3138|630/1185|210/394|| 22 37699476 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|8/12|c.696+33C>T|||||| 22 37705228 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|8/12|c.697-25C>T|||||| 22 37705409 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|9/12|c.808+45C>T|||||| 22 37707024 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|9/12|c.809-5C>T|||||| 22 37707072 . C T . . ANN=T|synonymous_variant|LOW|CYTH4|CYTH4|transcript|NM_013385.3|Coding|10/13|c.852C>T|p.Thr284Thr|968/3138|852/1185|284/394|| 22 37707122 . T C . . ANN=C|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|10/12|c.885+17T>C|||||| 22 37707138 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|10/12|c.885+33C>T|||||| 22 37707140 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|10/12|c.885+35C>T|||||| 22 37707145 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|10/12|c.885+40C>T|||||| 22 37707458 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|10/12|c.886-39C>T|||||| 22 37707488 . T C . . ANN=C|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|10/12|c.886-9T>C|||||| 22 37709438 . C T . . ANN=T|intron_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|12/12|c.1113-42C>T|||||| 22 37709536 . T C . . ANN=C|missense_variant|MODERATE|CYTH4|CYTH4|transcript|NM_013385.3|Coding|13/13|c.1169T>C|p.Ile390Thr|1285/3138|1169/1185|390/394|| 22 37709572 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CYTH4|CYTH4|transcript|NM_013385.3|Coding|13/13|c.*20G>A|||||20| 22 37769130 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.2445C>T|p.Ser815Ser|3231/8361|2445/2463|815/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30386C>T|||||| 22 37769205 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.2370C>T|p.His790His|3156/8361|2370/2463|790/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30461C>T|||||| 22 37769211 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.2364C>T|p.Ala788Ala|3150/8361|2364/2463|788/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30467C>T|||||| 22 37769298 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.2277C>T|p.Pro759Pro|3063/8361|2277/2463|759/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30554C>T|||||| 22 37769342 . G A . . ANN=A|stop_gained|HIGH|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.2233C>T|p.Gln745*|3019/8361|2233/2463|745/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30598C>T|||||| 22 37769393 . C T . . ANN=T|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.2182G>A|p.Val728Met|2968/8361|2182/2463|728/820||,T|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30649G>A|||||| 22 37769662 . T C . . ANN=C|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1913A>G|p.Lys638Arg|2699/8361|1913/2463|638/820||,C|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30918A>G|||||| 22 37769685 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1890C>T|p.Ser630Ser|2676/8361|1890/2463|630/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30941C>T|||||| 22 37769686 . C T . . ANN=T|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1889G>A|p.Ser630Asn|2675/8361|1889/2463|630/820||,T|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30942G>A|||||| 22 37769712 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1863C>T|p.Asp621Asp|2649/8361|1863/2463|621/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-30968C>T|||||| 22 37769786 . C G . . ANN=G|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1789G>C|p.Glu597Gln|2575/8361|1789/2463|597/820||,G|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31042G>C|||||| 22 37769816 . C A . . ANN=A|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1759G>T|p.Ala587Ser|2545/8361|1759/2463|587/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31072G>T|||||| 22 37769880 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1695C>T|p.Gly565Gly|2481/8361|1695/2463|565/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31136C>T|||||| 22 37770023 . C T . . ANN=T|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1552G>A|p.Glu518Lys|2338/8361|1552/2463|518/820||,T|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31279G>A|||||| 22 37770044 . C T . . ANN=T|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1531G>A|p.Gly511Arg|2317/8361|1531/2463|511/820||,T|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31300G>A|||||| 22 37770048 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1527C>T|p.Ala509Ala|2313/8361|1527/2463|509/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31304C>T|||||| 22 37770066 . G T . . ANN=T|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1509C>A|p.Ile503Ile|2295/8361|1509/2463|503/820||,T|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31322C>A|||||| 22 37770108 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1467C>T|p.Ala489Ala|2253/8361|1467/2463|489/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31364C>T|||||| 22 37770210 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1365C>T|p.Ala455Ala|2151/8361|1365/2463|455/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31466C>T|||||| 22 37770357 . A G . . ANN=G|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1218T>C|p.Phe406Phe|2004/8361|1218/2463|406/820||,G|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31613T>C|||||| 22 37770426 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1149C>T|p.Val383Val|1935/8361|1149/2463|383/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31682C>T|||||| 22 37770517 . G A . . ANN=A|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.1058C>T|p.Ala353Val|1844/8361|1058/2463|353/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31773C>T|||||| 22 37770582 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.993C>T|p.Ser331Ser|1779/8361|993/2463|331/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31838C>T|||||| 22 37770630 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.945C>T|p.Ile315Ile|1731/8361|945/2463|315/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-31886C>T|||||| 22 37770765 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.810C>T|p.Asp270Asp|1596/8361|810/2463|270/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32021C>T|||||| 22 37770783 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.792C>T|p.Asp264Asp|1578/8361|792/2463|264/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32039C>T|||||| 22 37770790 . G T . . ANN=T|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.785C>A|p.Ser262Tyr|1571/8361|785/2463|262/820||,T|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32046C>A|||||| 22 37770812 . C A,T . . ANN=A|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.763G>T|p.Val255Leu|1549/8361|763/2463|255/820||,T|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.763G>A|p.Val255Met|1549/8361|763/2463|255/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32068G>T||||||,T|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32068G>A|||||| 22 37770960 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.615C>T|p.Asn205Asn|1401/8361|615/2463|205/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32216C>T|||||| 22 37771002 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.573C>T|p.Cys191Cys|1359/8361|573/2463|191/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32258C>T|||||| 22 37771158 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.417C>T|p.Ile139Ile|1203/8361|417/2463|139/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32414C>T|||||| 22 37771348 . T C . . ANN=C|missense_variant|MODERATE|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.227A>G|p.Asn76Ser|1013/8361|227/2463|76/820||,C|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32604A>G|||||| 22 37771437 . G A . . ANN=A|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.138C>T|p.Tyr46Tyr|924/8361|138/2463|46/820||,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32693C>T|||||| 22 37771491 . C T . . ANN=T|synonymous_variant|LOW|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.84G>A|p.Glu28Glu|870/8361|84/2463|28/820||,T|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32747G>A|||||| 22 37771594 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|ELFN2|ELFN2|transcript|NM_052906.4|Coding|3/3|c.-20C>T|||||20|,A|intron_variant|MODIFIER|ELFN2|ELFN2|transcript|NR_110512.1|Noncoding|1/2|n.174-32850C>T|||||| 22 37866035 . T C . . ANN=C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|8/8|c.932A>G|p.Asp311Gly|1195/2129|932/966|311/321||,C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|7/7|c.890A>G|p.Asp297Gly|1100/2034|890/924|297/307||,C|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|7/7|n.1146A>G|||||| 22 37866063 . G A . . ANN=A|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|8/8|c.904C>T|p.Arg302Cys|1167/2129|904/966|302/321||,A|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|7/7|c.862C>T|p.Arg288Cys|1072/2034|862/924|288/307||,A|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|7/7|n.1118C>T|||||| 22 37866071 . CAG C . . ANN=C|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|7/7|c.900-6_900-5delCT||||||,C|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|6/6|c.858-6_858-5delCT||||||,C|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NR_029413.1|Noncoding|6/6|n.1114-6_1114-5delCT|||||| 22 37866075 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|7/7|c.900-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|6/6|c.858-8C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NR_029413.1|Noncoding|6/6|n.1114-8C>T|||||| 22 37866101 . C A . . ANN=A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|7/7|c.900-34G>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|6/6|c.858-34G>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|6/6|n.1114-34G>T|||||| 22 37868509 . G A . . ANN=A|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|7/8|c.871C>T|p.Pro291Ser|1134/2129|871/966|291/321||,A|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|6/7|c.829C>T|p.Pro277Ser|1039/2034|829/924|277/307||,A|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|6/7|n.1085C>T|||||| 22 37870534 . C T . . ANN=T|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|6/7|c.813+16G>A||||||,T|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|5/6|c.771+16G>A||||||,T|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|5/6|n.1027+16G>A|||||| 22 37870613 . G A . . ANN=A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|6/8|c.750C>T|p.Ser250Ser|1013/2129|750/966|250/321||,A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|5/7|c.708C>T|p.Ser236Ser|918/2034|708/924|236/307||,A|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|5/7|n.964C>T|||||| 22 37870631 . G A . . ANN=A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|6/8|c.732C>T|p.Gly244Gly|995/2129|732/966|244/321||,A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|5/7|c.690C>T|p.Gly230Gly|900/2034|690/924|230/307||,A|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|5/7|n.946C>T|||||| 22 37870707 . C T . . ANN=T|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|6/8|c.656G>A|p.Arg219His|919/2129|656/966|219/321||,T|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|5/7|c.614G>A|p.Arg205His|824/2034|614/924|205/307||,T|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|5/7|n.870G>A|||||| 22 37872942 . C T . . ANN=T|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|5/8|c.639G>A|p.Pro213Pro|902/2129|639/966|213/321||,T|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|4/7|c.597G>A|p.Pro199Pro|807/2034|597/924|199/307||,T|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|4/7|n.853G>A|||||| 22 37872974 . T C . . ANN=C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|5/8|c.607A>G|p.Ile203Val|870/2129|607/966|203/321||,C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|4/7|c.565A>G|p.Ile189Val|775/2034|565/924|189/307||,C|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|4/7|n.821A>G|||||| 22 37873022 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|4/7|c.562-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|3/6|c.520-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MFNG|MFNG|transcript|NR_029413.1|Noncoding|3/6|n.776-3C>T|||||| 22 37875446 . A G . . ANN=G|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|4/8|c.498T>C|p.Tyr166Tyr|761/2129|498/966|166/321||,G|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|3/7|c.456T>C|p.Tyr152Tyr|666/2034|456/924|152/307||,G|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|3/7|n.712T>C|||||| 22 37875447 . T C . . ANN=C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|4/8|c.497A>G|p.Tyr166Cys|760/2129|497/966|166/321||,C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|3/7|c.455A>G|p.Tyr152Cys|665/2034|455/924|152/307||,C|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|3/7|n.711A>G|||||| 22 37875569 . T TG . . ANN=TG|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|3/7|c.408-34_408-33insC||||||,TG|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|2/6|c.366-34_366-33insC||||||,TG|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|2/6|n.622-34_622-33insC|||||| 22 37876195 . C A . . ANN=A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|3/7|c.407+40G>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|2/6|c.365+40G>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|2/6|n.621+40G>T|||||| 22 37876221 . C A . . ANN=A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|3/7|c.407+14G>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|2/6|c.365+14G>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|2/6|n.621+14G>T|||||| 22 37876289 . G A . . ANN=A|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|3/8|c.353C>T|p.Ala118Val|616/2129|353/966|118/321||,A|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|2/7|c.311C>T|p.Ala104Val|521/2034|311/924|104/307||,A|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|2/7|n.567C>T|||||| 22 37876365 . C T . . ANN=T|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|2/7|c.305-28G>A||||||,T|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/6|c.263-28G>A||||||,T|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/6|n.519-28G>A|||||| 22 37876376 . T TC . . ANN=TC|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|2/7|c.305-40_305-39insG||||||,TC|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/6|c.263-40_263-39insG||||||,TC|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/6|n.519-40_519-39insG|||||| 22 37876729 . C A . . ANN=A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|2/7|c.304+30G>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/6|c.263-392G>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/6|n.519-392G>T|||||| 22 37876747 . G A . . ANN=A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|2/7|c.304+12C>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/6|c.263-410C>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/6|n.519-410C>T|||||| 22 37876748 . G A . . ANN=A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|2/7|c.304+11C>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/6|c.263-411C>T||||||,A|intron_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/6|n.519-411C>T|||||| 22 37881962 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.254A>G|p.Gln85Arg|517/2129|254/966|85/321||,C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.254A>G|p.Gln85Arg|464/2034|254/924|85/307||,C|splice_region_variant&non_coding_exon_variant|LOW|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.517A>G|||||| 22 37882057 . T G . . ANN=G|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.159A>C|p.Leu53Leu|422/2129|159/966|53/321||,G|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.159A>C|p.Leu53Leu|369/2034|159/924|53/307||,G|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.422A>C|||||| 22 37882061 . T C . . ANN=C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.155A>G|p.Gln52Arg|418/2129|155/966|52/321||,C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.155A>G|p.Gln52Arg|365/2034|155/924|52/307||,C|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.418A>G|||||| 22 37882149 . A C . . ANN=C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.67T>G|p.Cys23Gly|330/2129|67/966|23/321||,C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.67T>G|p.Cys23Gly|277/2034|67/924|23/307||,C|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.330T>G|||||| 22 37882171 . G A . . ANN=A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.45C>T|p.Thr15Thr|308/2129|45/966|15/321||,A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.45C>T|p.Thr15Thr|255/2034|45/924|15/307||,A|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.308C>T|||||| 22 37882177 . G A . . ANN=A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.39C>T|p.Leu13Leu|302/2129|39/966|13/321||,A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.39C>T|p.Leu13Leu|249/2034|39/924|13/307||,A|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.302C>T|||||| 22 37882197 . G C . . ANN=C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.19C>G|p.Arg7Gly|282/2129|19/966|7/321||,C|missense_variant|MODERATE|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.19C>G|p.Arg7Gly|229/2034|19/924|7/307||,C|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.282C>G|||||| 22 37882204 . C A . . ANN=A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.12G>T|p.Arg4Arg|275/2129|12/966|4/321||,A|synonymous_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.12G>T|p.Arg4Arg|222/2034|12/924|4/307||,A|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.275G>T|||||| 22 37882226 . TG T . . ANN=T|5_prime_UTR_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.-12delC|||||12|,T|5_prime_UTR_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.-12delC|||||12|,T|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.252delC|||||| 22 37882252 . A C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.-37T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.-37T>G||||||,C|5_prime_UTR_variant|MODIFIER|MFNG|MFNG|transcript|NM_002405.3|Coding|1/8|c.-37T>G|||||37|,C|5_prime_UTR_variant|MODIFIER|MFNG|MFNG|transcript|NM_001166343.1|Coding|1/7|c.-37T>G|||||37|,C|non_coding_exon_variant|MODIFIER|MFNG|MFNG|transcript|NR_029413.1|Noncoding|1/7|n.227T>G|||||| 22 37887387 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|20/20|c.2909G>A|p.Arg970Gln|2912/3899|2909/3099|970/1032|| 22 37887478 . G A . . ANN=A|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|19/19|c.2865-47C>T|||||| 22 37887726 . G A . . ANN=A|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|19/19|c.2864+36C>T|||||| 22 37887806 . G A . . ANN=A|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|19/20|c.2820C>T|p.Ile940Ile|2823/3899|2820/3099|940/1032|| 22 37887847 . G A . . ANN=A|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|19/20|c.2779C>T|p.Arg927Trp|2782/3899|2779/3099|927/1032|| 22 37888488 . G A . . ANN=A|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|18/20|c.2705C>T|p.Pro902Leu|2708/3899|2705/3099|902/1032|| 22 37888589 . G T . . ANN=T|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|17/19|c.2636-32C>A|||||| 22 37888594 . A C . . ANN=C|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|17/19|c.2636-37T>G|||||| 22 37888636 . G A . . ANN=A|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|17/19|c.2635+15C>T|||||| 22 37888779 . A G . . ANN=G|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|17/20|c.2507T>C|p.Leu836Ser|2510/3899|2507/3099|836/1032|| 22 37888784 . G A . . ANN=A|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|17/20|c.2502C>T|p.Tyr834Tyr|2505/3899|2502/3099|834/1032|| 22 37888840 . A G . . ANN=G|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|16/19|c.2477-31T>C|||||| 22 37888852 . G T . . ANN=T|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|16/19|c.2477-43C>A|||||| 22 37890131 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|16/20|c.2438G>A|p.Gly813Glu|2441/3899|2438/3099|813/1032|| 22 37891540 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|15/20|c.2357G>A|p.Arg786Gln|2360/3899|2357/3099|786/1032|| 22 37891718 . G A . . ANN=A|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|14/19|c.2303+49C>T|||||| 22 37891957 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|14/20|c.2113G>A|p.Glu705Lys|2116/3899|2113/3099|705/1032|| 22 37892049 . G C . . ANN=C|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|13/19|c.2060-39C>G|||||| 22 37892482 . G A . . ANN=A|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|13/20|c.2033C>T|p.Thr678Ile|2036/3899|2033/3099|678/1032|| 22 37892550 . A G . . ANN=G|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|13/20|c.1965T>C|p.Ala655Ala|1968/3899|1965/3099|655/1032|| 22 37893047 . G A . . ANN=A|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|12/20|c.1926C>T|p.Ser642Ser|1929/3899|1926/3099|642/1032|| 22 37898744 . G A . . ANN=A|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|10/19|c.1664-12C>T|||||| 22 37899242 . A G . . ANN=G|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|9/19|c.1635-22T>C|||||| 22 37900200 . G C . . ANN=C|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|9/20|c.1627C>G|p.Pro543Ala|1630/3899|1627/3099|543/1032|| 22 37900243 . G A . . ANN=A|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|9/20|c.1584C>T|p.Ala528Ala|1587/3899|1584/3099|528/1032|| 22 37900276 . A G . . ANN=G|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|9/20|c.1551T>C|p.Asn517Asn|1554/3899|1551/3099|517/1032|| 22 37900286 . T C . . ANN=C|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|9/20|c.1541A>G|p.Lys514Arg|1544/3899|1541/3099|514/1032|| 22 37900607 . G A . . ANN=A|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|8/19|c.1518+35C>T|||||| 22 37900643 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|8/20|c.1517C>T|p.Ser506Leu|1520/3899|1517/3099|506/1032|| 22 37900762 . G A . . ANN=A|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|8/20|c.1398C>T|p.Ser466Ser|1401/3899|1398/3099|466/1032|| 22 37900771 . A G . . ANN=G|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|8/20|c.1389T>C|p.Cys463Cys|1392/3899|1389/3099|463/1032|| 22 37900782 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|7/19|c.1384-6T>G|||||| 22 37902157 . C T . . ANN=T|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|7/19|c.1383+42G>A|||||| 22 37902177 . T C . . ANN=C|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|7/19|c.1383+22A>G|||||| 22 37902183 . A G . . ANN=G|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|7/19|c.1383+16T>C|||||| 22 37902193 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|7/19|c.1383+6C>G|||||| 22 37902223 . C T . . ANN=T|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|7/20|c.1359G>A|p.Arg453Arg|1362/3899|1359/3099|453/1032|| 22 37902235 . A C . . ANN=C|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|7/20|c.1347T>G|p.Val449Val|1350/3899|1347/3099|449/1032|| 22 37902274 . C T . . ANN=T|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|7/20|c.1308G>A|p.Thr436Thr|1311/3899|1308/3099|436/1032|| 22 37902275 . G A . . ANN=A|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|7/20|c.1307C>T|p.Thr436Met|1310/3899|1307/3099|436/1032|| 22 37902322 . G T . . ANN=T|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|7/20|c.1260C>A|p.Arg420Arg|1263/3899|1260/3099|420/1032|| 22 37902377 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|7/20|c.1205G>A|p.Arg402His|1208/3899|1205/3099|402/1032|| 22 37902421 . A G . . ANN=G|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|6/19|c.1192-31T>C|||||| 22 37903878 . A G . . ANN=G|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|6/20|c.1149T>C|p.Thr383Thr|1152/3899|1149/3099|383/1032|| 22 37903883 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|6/20|c.1144G>A|p.Ala382Thr|1147/3899|1144/3099|382/1032|| 22 37903936 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|6/20|c.1091G>A|p.Arg364Gln|1094/3899|1091/3099|364/1032|| 22 37903937 . G A . . ANN=A|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|6/20|c.1090C>T|p.Arg364Trp|1093/3899|1090/3099|364/1032|| 22 37903975 . G A . . ANN=A|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|5/19|c.1066-14C>T|||||| 22 37904528 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|5/19|c.1065+6G>T|||||| 22 37904552 . G A . . ANN=A|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|5/20|c.1047C>T|p.Ala349Ala|1050/3899|1047/3099|349/1032|| 22 37904656 . G A . . ANN=A|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|5/20|c.943C>T|p.Arg315Cys|946/3899|943/3099|315/1032|| 22 37904659 . C G . . ANN=G|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|5/20|c.940G>C|p.Glu314Gln|943/3899|940/3099|314/1032|| 22 37904676 . G A . . ANN=A|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|5/20|c.923C>T|p.Pro308Leu|926/3899|923/3099|308/1032|| 22 37904695 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|4/19|c.910-6C>T|||||| 22 37906277 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|4/20|c.851G>A|p.Arg284His|854/3899|851/3099|284/1032|| 22 37906308 . GCTCCTT G . . ANN=G|inframe_deletion|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|4/20|c.814_819delAAGGAG|p.Lys272_Glu273del|822/3899|814/3099|272/1032|| 22 37906386 . A T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|4/20|c.742T>A|p.Cys248Ser|745/3899|742/3099|248/1032|| 22 37906417 . G A . . ANN=A|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|4/20|c.711C>T|p.Leu237Leu|714/3899|711/3099|237/1032|| 22 37906426 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|4/20|c.702G>A|p.Val234Val|705/3899|702/3099|234/1032|| 22 37912053 . A T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|3/20|c.626T>A|p.Ile209Asn|629/3899|626/3099|209/1032|| 22 37912152 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|3/20|c.527G>A|p.Arg176Gln|530/3899|527/3099|176/1032|| 22 37912254 . C T . . ANN=T|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|3/20|c.425G>A|p.Arg142Gln|428/3899|425/3099|142/1032|| 22 37913936 . A C . . ANN=C|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|2/19|c.373+42T>G|||||| 22 37913942 . G T . . ANN=T|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|2/19|c.373+36C>A|||||| 22 37913945 . C G . . ANN=G|intron_variant|MODIFIER|CARD10|CARD10|transcript|NM_014550.3|Coding|2/19|c.373+33G>C|||||| 22 37915100 . A G . . ANN=G|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|1/20|c.108T>C|p.His36His|111/3899|108/3099|36/1032|| 22 37915145 . C T . . ANN=T|synonymous_variant|LOW|CARD10|CARD10|transcript|NM_014550.3|Coding|1/20|c.63G>A|p.Glu21Glu|66/3899|63/3099|21/1032|| 22 37915200 . C G . . ANN=G|missense_variant|MODERATE|CARD10|CARD10|transcript|NM_014550.3|Coding|1/20|c.8G>C|p.Gly3Ala|11/3899|8/3099|3/1032|| 22 37962383 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.27C>T|p.Gly9Gly|430/2162|27/1176|9/391|| 22 37962541 . C A . . ANN=A|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.185C>A|p.Ser62Tyr|588/2162|185/1176|62/391|| 22 37962557 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.201C>T|p.His67His|604/2162|201/1176|67/391|| 22 37962583 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.227G>A|p.Arg76His|630/2162|227/1176|76/391|| 22 37962642 . C T . . ANN=T|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.286C>T|p.Pro96Ser|689/2162|286/1176|96/391|| 22 37962643 . C T . . ANN=T|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.287C>T|p.Pro96Leu|690/2162|287/1176|96/391|| 22 37962646 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.290G>A|p.Arg97Gln|693/2162|290/1176|97/391|| 22 37962710 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.354C>T|p.Asn118Asn|757/2162|354/1176|118/391|| 22 37962740 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.384C>T|p.Ala128Ala|787/2162|384/1176|128/391|| 22 37962777 . G C . . ANN=C|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/3|c.421G>C|p.Asp141His|824/2162|421/1176|141/391|| 22 37964076 . G T . . ANN=T|intron_variant|MODIFIER|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/2|c.464-39G>T|||||| 22 37964098 . G T . . ANN=T|intron_variant|MODIFIER|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|2/2|c.464-17G>T|||||| 22 37964154 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.503G>A|p.Arg168His|906/2162|503/1176|168/391|| 22 37964203 . G A . . ANN=A|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.552G>A|p.Glu184Glu|955/2162|552/1176|184/391|| 22 37964214 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.563G>A|p.Arg188His|966/2162|563/1176|188/391|| 22 37964231 . T C . . ANN=C|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.580T>C|p.Leu194Leu|983/2162|580/1176|194/391|| 22 37964299 . C G . . ANN=G|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.648C>G|p.Leu216Leu|1051/2162|648/1176|216/391|| 22 37964383 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.732C>T|p.Asn244Asn|1135/2162|732/1176|244/391|| 22 37964408 . CCAGCGCCTGCTGCAAACCCCT C . . ANN=|disruptive_inframe_deletion|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.762_782delGCCTGCTGCAAACCCCTCAGC|p.Pro255_Ala261del|1165/2162|762/1176|254/391||INFO_REALIGN_3_PRIME 22 37964413 . GCCTGCTGCAAACCCCTCAGCA G . . ANN=|disruptive_inframe_deletion|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.768_788delTGCAAACCCCTCAGCACCTGC|p.Ala257_Ala263del|1171/2162|768/1176|256/391||INFO_REALIGN_3_PRIME 22 37964575 . T C . . ANN=C|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.924T>C|p.Gly308Gly|1327/2162|924/1176|308/391|| 22 37964580 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.929G>A|p.Arg310Gln|1332/2162|929/1176|310/391|| 22 37964632 . C T . . ANN=T|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.981C>T|p.Gly327Gly|1384/2162|981/1176|327/391|| 22 37964682 . T C . . ANN=C|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.1031T>C|p.Leu344Pro|1434/2162|1031/1176|344/391|| 22 37964756 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.1105G>A|p.Val369Met|1508/2162|1105/1176|369/391|| 22 37964767 . A G . . ANN=G|synonymous_variant|LOW|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.1116A>G|p.Thr372Thr|1519/2162|1116/1176|372/391|| 22 37964795 . G A . . ANN=A|missense_variant|MODERATE|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.1144G>A|p.Asp382Asn|1547/2162|1144/1176|382/391|| 22 37964857 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|CDC42EP1|CDC42EP1|transcript|NM_152243.2|Coding|3/3|c.*30C>G|||||30| 22 37966258 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|LGALS2|LGALS2|transcript|NM_006498.2|Coding|4/4|c.*12C>T|||||12| 22 37966314 . C T . . ANN=T|missense_variant|MODERATE|LGALS2|LGALS2|transcript|NM_006498.2|Coding|4/4|c.355G>A|p.Val119Ile|467/528|355/399|119/132|| 22 37966366 . G A . . ANN=A|synonymous_variant|LOW|LGALS2|LGALS2|transcript|NM_006498.2|Coding|4/4|c.303C>T|p.His101His|415/528|303/399|101/132|| 22 37966409 . G A . . ANN=A|missense_variant|MODERATE|LGALS2|LGALS2|transcript|NM_006498.2|Coding|4/4|c.260C>T|p.Thr87Ile|372/528|260/399|87/132|| 22 37966427 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/3|c.250-8C>T|||||| 22 37966572 . T C . . ANN=C|intron_variant|MODIFIER|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/3|c.249+11A>G|||||| 22 37966623 . CGTT C . . ANN=C|disruptive_inframe_deletion|MODERATE|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/4|c.206_208delAAC|p.Gln69del|320/528|206/399|69/132|| 22 37966634 . C T . . ANN=T|synonymous_variant|LOW|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/4|c.198G>A|p.Gly66Gly|310/528|198/399|66/132|| 22 37966648 . C T . . ANN=T|missense_variant|MODERATE|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/4|c.184G>A|p.Gly62Ser|296/528|184/399|62/132|| 22 37966649 . G A . . ANN=A|synonymous_variant|LOW|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/4|c.183C>T|p.Asp61Asp|295/528|183/399|61/132|| 22 37966655 . T A . . ANN=A|synonymous_variant|LOW|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/4|c.177A>T|p.Ser59Ser|289/528|177/399|59/132|| 22 37966686 . C T . . ANN=T|missense_variant|MODERATE|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/4|c.146G>A|p.Arg49His|258/528|146/399|49/132|| 22 37966689 . G A . . ANN=A|missense_variant|MODERATE|LGALS2|LGALS2|transcript|NM_006498.2|Coding|3/4|c.143C>T|p.Pro48Leu|255/528|143/399|48/132|| 22 37966787 . G A . . ANN=A|intron_variant|MODIFIER|LGALS2|LGALS2|transcript|NM_006498.2|Coding|2/3|c.90-45C>T|||||| 22 37967817 . C T . . ANN=T|intron_variant|MODIFIER|LGALS2|LGALS2|transcript|NM_006498.2|Coding|2/3|c.89+39G>A|||||| 22 37967856 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|LGALS2|LGALS2|transcript|NM_006498.2|Coding|2/4|c.89G>T|p.Gly30Val|201/528|89/399|30/132|| 22 37967904 . G A . . ANN=A|missense_variant|MODERATE|LGALS2|LGALS2|transcript|NM_006498.2|Coding|2/4|c.41C>T|p.Pro14Leu|153/528|41/399|14/132|| 22 38010291 . C T . . ANN=T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|2/16|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001561.2|Coding|2/2|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|2/14|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|2/16|c.128+10C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|3/17|c.-92+10C>T|||||| 22 38012892 . G A . . ANN=A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|2/16|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001561.2|Coding|2/2|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|2/14|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|2/16|c.129-37G>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|3/17|c.-91-37G>A|||||| 22 38012897 . G A . . ANN=A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|2/16|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001561.2|Coding|2/2|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|2/14|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|2/16|c.129-32G>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|3/17|c.-91-32G>A|||||| 22 38012938 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|3/17|c.138C>T|p.Leu46Leu|525/3160|138/1920|46/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001561.2|Coding|3/3|c.138C>T|p.Leu46Leu|525/1714|138/270|46/89||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|3/15|c.138C>T|p.Leu46Leu|525/2899|138/1659|46/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|3/17|c.138C>T|p.Leu46Leu|525/3148|138/1908|46/635||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|4/18|c.-82C>T||||||,T|5_prime_UTR_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|4/18|c.-82C>T|||||1532| 22 38014442 . C G . . ANN=G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|3/16|c.205-13C>G||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|3/14|c.205-13C>G||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|3/16|c.205-13C>G||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|4/17|c.-15-13C>G|||||| 22 38014443 . C G . . ANN=G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|3/16|c.205-12C>G||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|3/14|c.205-12C>G||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|3/16|c.205-12C>G||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|4/17|c.-15-12C>G|||||| 22 38016355 . G C . . ANN=C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|5/17|c.414G>C|p.Met138Ile|801/3160|414/1920|138/639||,C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|5/15|c.414G>C|p.Met138Ile|801/2899|414/1659|138/552||,C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|5/17|c.414G>C|p.Met138Ile|801/3148|414/1908|138/635||,C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|6/18|c.195G>C|p.Met65Ile|847/3206|195/1701|65/566|| 22 38016386 . T TG . . ANN=TG|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|5/16|c.427+18_427+19insG||||||,TG|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|5/14|c.427+18_427+19insG||||||,TG|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|5/16|c.427+18_427+19insG||||||,TG|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|6/17|c.208+18_208+19insG|||||| 22 38016825 . G A . . ANN=A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|6/17|c.433G>A|p.Val145Ile|820/3160|433/1920|145/639||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|6/15|c.433G>A|p.Val145Ile|820/2899|433/1659|145/552||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|6/17|c.433G>A|p.Val145Ile|820/3148|433/1908|145/635||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|7/18|c.214G>A|p.Val72Ile|866/3206|214/1701|72/566|| 22 38016833 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|6/17|c.441C>T|p.Ser147Ser|828/3160|441/1920|147/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|6/15|c.441C>T|p.Ser147Ser|828/2899|441/1659|147/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|6/17|c.441C>T|p.Ser147Ser|828/3148|441/1908|147/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|7/18|c.222C>T|p.Ser74Ser|874/3206|222/1701|74/566|| 22 38017682 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|7/17|c.588C>T|p.Leu196Leu|975/3160|588/1920|196/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|7/15|c.588C>T|p.Leu196Leu|975/2899|588/1659|196/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|7/17|c.588C>T|p.Leu196Leu|975/3148|588/1908|196/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|8/18|c.369C>T|p.Leu123Leu|1021/3206|369/1701|123/566|| 22 38019448 . G C . . ANN=C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|8/17|c.724G>C|p.Ala242Pro|1111/3160|724/1920|242/639||,C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|8/15|c.724G>C|p.Ala242Pro|1111/2899|724/1659|242/552||,C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|8/17|c.724G>C|p.Ala242Pro|1111/3148|724/1908|242/635||,C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|9/18|c.505G>C|p.Ala169Pro|1157/3206|505/1701|169/566|| 22 38019458 . G A . . ANN=A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|8/17|c.734G>A|p.Ser245Asn|1121/3160|734/1920|245/639||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|8/15|c.734G>A|p.Ser245Asn|1121/2899|734/1659|245/552||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|8/17|c.734G>A|p.Ser245Asn|1121/3148|734/1908|245/635||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|9/18|c.515G>A|p.Ser172Asn|1167/3206|515/1701|172/566|| 22 38019493 . C T . . ANN=T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|8/16|c.750+19C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|8/14|c.750+19C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|8/16|c.750+19C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|9/17|c.531+19C>T|||||| 22 38019499 . C T . . ANN=T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|8/16|c.750+25C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|8/14|c.750+25C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|8/16|c.750+25C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|9/17|c.531+25C>T|||||| 22 38019526 . C T . . ANN=T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|8/16|c.751-33C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|8/14|c.751-33C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|8/16|c.751-33C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|9/17|c.532-33C>T|||||| 22 38019542 . C T . . ANN=T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|8/16|c.751-17C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|8/14|c.751-17C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|8/16|c.751-17C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|9/17|c.532-17C>T|||||| 22 38019677 . C A,G,T . . ANN=A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|9/16|c.832+37C>A||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|9/16|c.832+37C>G||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|9/16|c.832+37C>T||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+37C>A||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+37C>G||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+37C>T||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|9/16|c.832+37C>A||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|9/16|c.832+37C>G||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|9/16|c.832+37C>T||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|10/17|c.613+37C>A||||||,G|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|10/17|c.613+37C>G||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|10/17|c.613+37C>T|||||| 22 38021036 . T C . . ANN=C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|10/17|c.893T>C|p.Val298Ala|1280/3160|893/1920|298/639||,C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|10/17|c.893T>C|p.Val298Ala|1280/3148|893/1908|298/635||,C|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|11/18|c.674T>C|p.Val225Ala|1326/3206|674/1701|225/566||,C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+1396T>C|||||| 22 38021070 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|10/17|c.927C>T|p.Ala309Ala|1314/3160|927/1920|309/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|10/17|c.927C>T|p.Ala309Ala|1314/3148|927/1908|309/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|11/18|c.708C>T|p.Ala236Ala|1360/3206|708/1701|236/566||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+1430C>T|||||| 22 38021761 . C CGT . . ANN=CGT|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|10/16|c.941-43_941-42insGT||||||,CGT|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+2121_832+2122insGT||||||,CGT|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|10/16|c.941-43_941-42insGT||||||,CGT|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|11/17|c.722-43_722-42insGT|||||| 22 38021777 . T A . . ANN=A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|10/16|c.941-27T>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+2137T>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|10/16|c.941-27T>A||||||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|11/17|c.722-27T>A|||||| 22 38021796 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|10/16|c.941-8C>T||||||,T|splice_region_variant&intron_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|10/16|c.941-8C>T||||||,T|splice_region_variant&intron_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|11/17|c.722-8C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+2156C>T|||||| 22 38021882 . G A . . ANN=A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|11/17|c.1019G>A|p.Arg340His|1406/3160|1019/1920|340/639||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|11/17|c.1019G>A|p.Arg340His|1406/3148|1019/1908|340/635||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|12/18|c.800G>A|p.Arg267His|1452/3206|800/1701|267/566||,A|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+2242G>A|||||| 22 38021889 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|11/17|c.1026C>T|p.Gly342Gly|1413/3160|1026/1920|342/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|11/17|c.1026C>T|p.Gly342Gly|1413/3148|1026/1908|342/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|12/18|c.807C>T|p.Gly269Gly|1459/3206|807/1701|269/566||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|9/14|c.832+2249C>T|||||| 22 38025497 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|12/17|c.1122C>T|p.Gly374Gly|1509/3160|1122/1920|374/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|10/15|c.861C>T|p.Gly287Gly|1248/2899|861/1659|287/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|12/17|c.1122C>T|p.Gly374Gly|1509/3148|1122/1908|374/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|13/18|c.903C>T|p.Gly301Gly|1555/3206|903/1701|301/566|| 22 38025556 . T C . . ANN=C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|12/16|c.1158+23T>C||||||,C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|10/14|c.897+23T>C||||||,C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|12/16|c.1158+23T>C||||||,C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|13/17|c.939+23T>C|||||| 22 38026059 . G A . . ANN=A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|13/17|c.1213G>A|p.Glu405Lys|1600/3160|1213/1920|405/639||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|11/15|c.952G>A|p.Glu318Lys|1339/2899|952/1659|318/552||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|13/17|c.1213G>A|p.Glu405Lys|1600/3148|1213/1908|405/635||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|14/18|c.994G>A|p.Glu332Lys|1646/3206|994/1701|332/566|| 22 38026075 . C T . . ANN=T|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|13/17|c.1229C>T|p.Ala410Val|1616/3160|1229/1920|410/639||,T|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|11/15|c.968C>T|p.Ala323Val|1355/2899|968/1659|323/552||,T|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|13/17|c.1229C>T|p.Ala410Val|1616/3148|1229/1908|410/635||,T|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|14/18|c.1010C>T|p.Ala337Val|1662/3206|1010/1701|337/566|| 22 38026077 . C G . . ANN=G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|13/17|c.1231C>G|p.Gln411Glu|1618/3160|1231/1920|411/639||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|11/15|c.970C>G|p.Gln324Glu|1357/2899|970/1659|324/552||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|13/17|c.1231C>G|p.Gln411Glu|1618/3148|1231/1908|411/635||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|14/18|c.1012C>G|p.Gln338Glu|1664/3206|1012/1701|338/566|| 22 38026109 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|13/17|c.1263C>T|p.Asp421Asp|1650/3160|1263/1920|421/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|11/15|c.1002C>T|p.Asp334Asp|1389/2899|1002/1659|334/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|13/17|c.1263C>T|p.Asp421Asp|1650/3148|1263/1908|421/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|14/18|c.1044C>T|p.Asp348Asp|1696/3206|1044/1701|348/566|| 22 38026215 . C T . . ANN=T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|13/16|c.1331+38C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|11/14|c.1070+38C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|13/16|c.1319+50C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|14/17|c.1112+38C>T|||||| 22 38026965 . A G . . ANN=G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|14/17|c.1387A>G|p.Ser463Gly|1774/3160|1387/1920|463/639||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|12/15|c.1126A>G|p.Ser376Gly|1513/2899|1126/1659|376/552||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|14/17|c.1375A>G|p.Ser459Gly|1762/3148|1375/1908|459/635||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|15/18|c.1168A>G|p.Ser390Gly|1820/3206|1168/1701|390/566|| 22 38027012 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|14/17|c.1434C>T|p.Thr478Thr|1821/3160|1434/1920|478/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|12/15|c.1173C>T|p.Thr391Thr|1560/2899|1173/1659|391/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|14/17|c.1422C>T|p.Thr474Thr|1809/3148|1422/1908|474/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|15/18|c.1215C>T|p.Thr405Thr|1867/3206|1215/1701|405/566|| 22 38027013 . G A . . ANN=A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|14/17|c.1435G>A|p.Val479Met|1822/3160|1435/1920|479/639||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|12/15|c.1174G>A|p.Val392Met|1561/2899|1174/1659|392/552||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|14/17|c.1423G>A|p.Val475Met|1810/3148|1423/1908|475/635||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|15/18|c.1216G>A|p.Val406Met|1868/3206|1216/1701|406/566|| 22 38028016 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|15/17|c.1542C>T|p.Pro514Pro|1929/3160|1542/1920|514/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|13/15|c.1281C>T|p.Pro427Pro|1668/2899|1281/1659|427/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|15/17|c.1530C>T|p.Pro510Pro|1917/3148|1530/1908|510/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|16/18|c.1323C>T|p.Pro441Pro|1975/3206|1323/1701|441/566|| 22 38028046 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|15/17|c.1572C>T|p.Arg524Arg|1959/3160|1572/1920|524/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|13/15|c.1311C>T|p.Arg437Arg|1698/2899|1311/1659|437/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|15/17|c.1560C>T|p.Arg520Arg|1947/3148|1560/1908|520/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|16/18|c.1353C>T|p.Arg451Arg|2005/3206|1353/1701|451/566|| 22 38028073 . A G . . ANN=G|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|15/17|c.1599A>G|p.Pro533Pro|1986/3160|1599/1920|533/639||,G|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|13/15|c.1338A>G|p.Pro446Pro|1725/2899|1338/1659|446/552||,G|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|15/17|c.1587A>G|p.Pro529Pro|1974/3148|1587/1908|529/635||,G|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|16/18|c.1380A>G|p.Pro460Pro|2032/3206|1380/1701|460/566|| 22 38028076 . G T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|15/17|c.1602G>T|p.Leu534Leu|1989/3160|1602/1920|534/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|13/15|c.1341G>T|p.Leu447Leu|1728/2899|1341/1659|447/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|15/17|c.1590G>T|p.Leu530Leu|1977/3148|1590/1908|530/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|16/18|c.1383G>T|p.Leu461Leu|2035/3206|1383/1701|461/566|| 22 38028094 . G A . . ANN=A|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|15/17|c.1620G>A|p.Val540Val|2007/3160|1620/1920|540/639||,A|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|13/15|c.1359G>A|p.Val453Val|1746/2899|1359/1659|453/552||,A|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|15/17|c.1608G>A|p.Val536Val|1995/3148|1608/1908|536/635||,A|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|16/18|c.1401G>A|p.Val467Val|2053/3206|1401/1701|467/566|| 22 38028441 . G A . . ANN=A|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|16/17|c.1728G>A|p.Ser576Ser|2115/3160|1728/1920|576/639||,A|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|14/15|c.1467G>A|p.Ser489Ser|1854/2899|1467/1659|489/552||,A|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|16/17|c.1716G>A|p.Ser572Ser|2103/3148|1716/1908|572/635||,A|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|17/18|c.1509G>A|p.Ser503Ser|2161/3206|1509/1701|503/566|| 22 38028456 . A G . . ANN=G|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|16/17|c.1743A>G|p.Pro581Pro|2130/3160|1743/1920|581/639||,G|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|14/15|c.1482A>G|p.Pro494Pro|1869/2899|1482/1659|494/552||,G|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|16/17|c.1731A>G|p.Pro577Pro|2118/3148|1731/1908|577/635||,G|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|17/18|c.1524A>G|p.Pro508Pro|2176/3206|1524/1701|508/566|| 22 38028471 . C T . . ANN=T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_013365.4|Coding|16/17|c.1758C>T|p.Ile586Ile|2145/3160|1758/1920|586/639||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001001560.2|Coding|14/15|c.1497C>T|p.Ile499Ile|1884/2899|1497/1659|499/552||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172687.1|Coding|16/17|c.1746C>T|p.Ile582Ile|2133/3148|1746/1908|582/635||,T|synonymous_variant|LOW|GGA1|GGA1|transcript|NM_001172688.1|Coding|17/18|c.1539C>T|p.Ile513Ile|2191/3206|1539/1701|513/566|| 22 38028558 . CG C . . ANN=C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|16/16|c.1809+37delG||||||,C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|14/14|c.1548+37delG||||||,C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|16/16|c.1797+37delG||||||,C|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|17/17|c.1590+37delG|||||| 22 38028566 . TCTC T . . ANN=T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|16/16|c.1810-41_1810-39delCTC||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|14/14|c.1549-41_1549-39delCTC||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|16/16|c.1798-41_1798-39delCTC||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|17/17|c.1591-41_1591-39delCTC|||||| 22 38028582 . C T . . ANN=T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_013365.4|Coding|16/16|c.1810-26C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001001560.2|Coding|14/14|c.1549-26C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172687.1|Coding|16/16|c.1798-26C>T||||||,T|intron_variant|MODIFIER|GGA1|GGA1|transcript|NM_001172688.1|Coding|17/17|c.1591-26C>T|||||| 22 38028618 . G A . . ANN=A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|17/17|c.1820G>A|p.Arg607His|2207/3160|1820/1920|607/639||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|15/15|c.1559G>A|p.Arg520His|1946/2899|1559/1659|520/552||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|17/17|c.1808G>A|p.Arg603His|2195/3148|1808/1908|603/635||,A|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|18/18|c.1601G>A|p.Arg534His|2253/3206|1601/1701|534/566|| 22 38028644 . A G . . ANN=G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_013365.4|Coding|17/17|c.1846A>G|p.Met616Val|2233/3160|1846/1920|616/639||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001001560.2|Coding|15/15|c.1585A>G|p.Met529Val|1972/2899|1585/1659|529/552||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172687.1|Coding|17/17|c.1834A>G|p.Met612Val|2221/3148|1834/1908|612/635||,G|missense_variant|MODERATE|GGA1|GGA1|transcript|NM_001172688.1|Coding|18/18|c.1627A>G|p.Met543Val|2279/3206|1627/1701|543/566|| 22 38035777 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|1/18|c.-18C>T|||||18| 22 38035851 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|1/18|c.57A>G|p.Gly19Gly|168/2576|57/2106|19/701|| 22 38037109 . C A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|1/17|c.60-24C>A|||||| 22 38037113 . C G . . ANN=G|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|1/17|c.60-20C>G|||||| 22 38037117 . CCA C . . ANN=C|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|1/17|c.60-15_60-14delCA|||||| 22 38037118 . CA C . . ANN=C|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|1/17|c.60-14delA|||||| 22 38037158 . G A . . ANN=A|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|2/18|c.85G>A|p.Gly29Ser|196/2576|85/2106|29/701|| 22 38037361 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|2/17|c.103-20C>T|||||| 22 38037374 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|2/17|c.103-7T>C|||||| 22 38037401 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|3/18|c.123G>A|p.Pro41Pro|234/2576|123/2106|41/701|| 22 38038513 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|3/17|c.208-33G>A||||||,A|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|6/6|n.1271C>T|||||| 22 38038605 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|4/18|c.267C>T|p.Asp89Asp|378/2576|267/2106|89/701||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|6/6|n.1179G>A|||||| 22 38038644 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|4/17|c.284+22C>T||||||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|6/6|n.1140G>A|||||| 22 38038871 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|4/17|c.285-31C>T||||||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|6/6|n.913G>A|||||| 22 38039089 . C A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|5/17|c.397-16C>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/5|n.813-118G>T|||||| 22 38039128 . A G . . ANN=G|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|6/18|c.420A>G|p.Lys140Lys|531/2576|420/2106|140/701||,G|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/5|n.813-157T>C|||||| 22 38039197 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|6/17|c.473+16G>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/5|n.813-226C>T|||||| 22 38039198 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|6/17|c.473+17C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/5|n.813-227G>A|||||| 22 38039211 . T C . . ANN=C|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|6/17|c.473+30T>C||||||,C|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/5|n.813-240A>G|||||| 22 38039618 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|6/17|c.474-33C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/5|n.812+16G>A|||||| 22 38039625 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|6/17|c.474-26C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/5|n.812+9G>A|||||| 22 38039634 . C G . . ANN=G|splice_region_variant&non_coding_exon_variant|LOW|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/6|n.812G>C||||||,G|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|6/17|c.474-17C>G|||||| 22 38039708 . T C . . ANN=C|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|7/18|c.531T>C|p.Gly177Gly|642/2576|531/2106|177/701||,C|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/6|n.738A>G|||||| 22 38039746 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|7/18|c.569C>T|p.Thr190Met|680/2576|569/2106|190/701||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/6|n.700G>A|||||| 22 38039747 . G T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|7/18|c.570G>T|p.Thr190Thr|681/2576|570/2106|190/701||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|5/6|n.699C>A|||||| 22 38040711 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|8/18|c.686G>A|p.Arg229His|797/2576|686/2106|229/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-943C>T|||||| 22 38040842 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|8/17|c.688-35C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1074G>A|||||| 22 38040850 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|8/17|c.688-27G>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1082C>T|||||| 22 38040911 . CA C . . ANN=C|frameshift_variant|HIGH|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|9/18|c.723delA|p.Ser241fs|834/2576|723/2106|241/701||,C|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1144delT||||||;LOF=(SH3BP1|SH3BP1|1|1.00) 22 38040957 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|9/18|c.768C>T|p.His256His|879/2576|768/2106|256/701||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1189G>A|||||| 22 38040958 . G A . . ANN=A|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|9/18|c.769G>A|p.Gly257Ser|880/2576|769/2106|257/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1190C>T|||||| 22 38040997 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|9/17|c.778+30C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1229G>A|||||| 22 38041015 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|9/17|c.778+48C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1247G>A|||||| 22 38041328 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|9/17|c.779-44G>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1560C>T|||||| 22 38041375 . A G . . ANN=G|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|10/18|c.782A>G|p.His261Arg|893/2576|782/2106|261/701||,G|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1607T>C|||||| 22 38041544 . A G . . ANN=G|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|10/17|c.924+27A>G||||||,G|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.678-1776T>C|||||| 22 38042828 . C A . . ANN=A|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|11/18|c.928C>A|p.Leu310Ile|1039/2576|928/2106|310/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+1502G>T|||||| 22 38042887 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|11/18|c.987G>A|p.Ser329Ser|1098/2576|987/2106|329/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+1443C>T|||||| 22 38042948 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|11/17|c.1036+12G>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+1382C>T|||||| 22 38042969 . TG T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|11/17|c.1036+34delG||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+1360delC|||||| 22 38042971 . G C . . ANN=C|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|11/17|c.1036+35G>C||||||,C|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+1359C>G|||||| 22 38042972 . G C . . ANN=C|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|11/17|c.1036+36G>C||||||,C|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+1358C>G|||||| 22 38042982 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|11/17|c.1036+46G>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+1348C>T|||||| 22 38043372 . A C . . ANN=C|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|12/17|c.1118+17A>C||||||,C|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+958T>G|||||| 22 38043385 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|12/17|c.1118+30G>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+945C>T|||||| 22 38043416 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|12/17|c.1119-32G>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+914C>T|||||| 22 38043439 . C A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|12/17|c.1119-9C>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+891G>T|||||| 22 38043443 . C A,G,T . . ANN=A|splice_region_variant&intron_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|12/17|c.1119-5C>A||||||,G|splice_region_variant&intron_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|12/17|c.1119-5C>G||||||,T|splice_region_variant&intron_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|12/17|c.1119-5C>T||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+887G>T||||||,G|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+887G>C||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+887G>A|||||| 22 38043444 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|12/17|c.1119-4C>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+886G>T|||||| 22 38043526 . C A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|13/18|c.1197C>A|p.Leu399Leu|1308/2576|1197/2106|399/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+804G>T|||||| 22 38043548 . C A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|13/17|c.1199+20C>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+782G>T|||||| 22 38043568 . G C . . ANN=C|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|13/17|c.1199+40G>C||||||,C|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+762C>G|||||| 22 38044289 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|13/17|c.1200-37C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+41G>A|||||| 22 38044298 . C A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|13/17|c.1200-28C>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/5|n.677+32G>T|||||| 22 38044341 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|14/18|c.1215C>T|p.Phe405Phe|1326/2576|1215/2106|405/701||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|4/6|n.666G>A|||||| 22 38046109 . G T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|14/17|c.1317-50G>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/5|n.506-177C>A|||||| 22 38046173 . T G . . ANN=G|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|15/18|c.1331T>G|p.Leu444Arg|1442/2576|1331/2106|444/701||,G|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/5|n.505+165A>C|||||| 22 38046235 . G A,T . . ANN=A|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|15/18|c.1393G>A|p.Ala465Thr|1504/2576|1393/2106|465/701||,T|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|15/18|c.1393G>T|p.Ala465Ser|1504/2576|1393/2106|465/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/5|n.505+103C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/5|n.505+103C>A|||||| 22 38046262 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|15/17|c.1414+6G>A||||||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/5|n.505+76C>T|||||| 22 38046511 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|15/17|c.1415-38C>T||||||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/6|n.332G>A|||||| 22 38046512 . G A . . ANN=A|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|15/17|c.1415-37G>A||||||,A|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/6|n.331C>T|||||| 22 38046531 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|15/17|c.1415-18C>T||||||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/6|n.312G>A|||||| 22 38046666 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|16/18|c.1532C>T|p.Pro511Leu|1643/2576|1532/2106|511/701||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/6|n.177G>A|||||| 22 38046672 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|16/18|c.1538C>T|p.Pro513Leu|1649/2576|1538/2106|513/701||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/6|n.171G>A|||||| 22 38046678 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|16/18|c.1544C>T|p.Pro515Leu|1655/2576|1544/2106|515/701||,T|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/6|n.165G>A|||||| 22 38046695 . C A . . ANN=A|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|16/18|c.1561C>A|p.Pro521Thr|1672/2576|1561/2106|521/701||,A|non_coding_exon_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/6|n.148G>T|||||| 22 38046718 . A G . . ANN=G|splice_region_variant&non_coding_exon_variant|LOW|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|2/6|n.125T>C||||||,G|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|16/18|c.1584A>G|p.Ala528Ala|1695/2576|1584/2106|528/701|| 22 38049816 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|17/18|c.1629C>T|p.Ala543Ala|1740/2576|1629/2106|543/701||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.124-3097G>A|||||| 22 38049843 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|17/18|c.1656G>A|p.Pro552Pro|1767/2576|1656/2106|552/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.124-3124C>T|||||| 22 38049878 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|17/18|c.1691G>A|p.Arg564Lys|1802/2576|1691/2106|564/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.124-3159C>T|||||| 22 38049922 . C T . . ANN=T|intron_variant|MODIFIER|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|17/17|c.1693+42C>T||||||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.124-3203G>A|||||| 22 38051291 . C T . . ANN=T|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1706C>T|p.Ala569Val|1817/2576|1706/2106|569/701||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2971G>A|||||| 22 38051328 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1743C>T|p.Ser581Ser|1854/2576|1743/2106|581/701||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2934G>A|||||| 22 38051329 . G A . . ANN=A|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1744G>A|p.Gly582Ser|1855/2576|1744/2106|582/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2933C>T|||||| 22 38051355 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1770G>A|p.Pro590Pro|1881/2576|1770/2106|590/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2907C>T|||||| 22 38051451 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1866G>A|p.Pro622Pro|1977/2576|1866/2106|622/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2811C>T|||||| 22 38051460 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1875C>T|p.Pro625Pro|1986/2576|1875/2106|625/701||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2802G>A|||||| 22 38051493 . G T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1908G>T|p.Arg636Arg|2019/2576|1908/2106|636/701||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2769C>A|||||| 22 38051508 . C T . . ANN=T|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1923C>T|p.Ser641Ser|2034/2576|1923/2106|641/701||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2754G>A|||||| 22 38051511 . C A . . ANN=A|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1926C>A|p.Pro642Pro|2037/2576|1926/2106|642/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2751G>T|||||| 22 38051571 . G A . . ANN=A|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.1986G>A|p.Gln662Gln|2097/2576|1986/2106|662/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2691C>T|||||| 22 38051628 . C A . . ANN=A|synonymous_variant|LOW|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.2043C>A|p.Val681Val|2154/2576|2043/2106|681/701||,A|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2634G>T|||||| 22 38051632 . A T . . ANN=T|missense_variant|MODERATE|SH3BP1|SH3BP1|transcript|NM_018957.3|Coding|18/18|c.2047A>T|p.Thr683Ser|2158/2576|2047/2106|683/701||,T|intron_variant|MODIFIER|LOC101927051|LOC101927051|transcript|NR_109952.1|Noncoding|1/5|n.123+2630T>A|||||| 22 38061514 . C T . . ANN=T|intron_variant|MODIFIER|PDXP|PDXP|transcript|NM_020315.4|Coding|1/1|c.575-48C>T|||||| 22 38061520 . C G . . ANN=G|intron_variant|MODIFIER|PDXP|PDXP|transcript|NM_020315.4|Coding|1/1|c.575-42C>G|||||| 22 38061544 . G A . . ANN=A|intron_variant|MODIFIER|PDXP|PDXP|transcript|NM_020315.4|Coding|1/1|c.575-18G>A|||||| 22 38061576 . G T . . ANN=T|missense_variant|MODERATE|PDXP|PDXP|transcript|NM_020315.4|Coding|2/2|c.589G>T|p.Ala197Ser|642/2005|589/891|197/296|| 22 38061602 . A G . . ANN=G|synonymous_variant|LOW|PDXP|PDXP|transcript|NM_020315.4|Coding|2/2|c.615A>G|p.Gly205Gly|668/2005|615/891|205/296|| 22 38061637 . A T . . ANN=T|missense_variant|MODERATE|PDXP|PDXP|transcript|NM_020315.4|Coding|2/2|c.650A>T|p.Tyr217Phe|703/2005|650/891|217/296|| 22 38061785 . G A . . ANN=A|synonymous_variant|LOW|PDXP|PDXP|transcript|NM_020315.4|Coding|2/2|c.798G>A|p.Glu266Glu|851/2005|798/891|266/296|| 22 38061816 . G A . . ANN=A|missense_variant|MODERATE|PDXP|PDXP|transcript|NM_020315.4|Coding|2/2|c.829G>A|p.Asp277Asn|882/2005|829/891|277/296|| 22 38071707 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|1/4|c.-3A>G|||||3| 22 38071731 . A AC . . ANN=AC|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|1/3|c.9+13_9+14insC|||||| 22 38071738 . C A . . ANN=A|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|1/3|c.9+20C>A|||||| 22 38071739 . C A . . ANN=A|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|1/3|c.9+21C>A|||||| 22 38071763 . A G . . ANN=G|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|1/3|c.9+45A>G|||||| 22 38072958 . C T . . ANN=T|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|1/3|c.10-35C>T|||||| 22 38072978 . G A . . ANN=A|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|1/3|c.10-15G>A|||||| 22 38072983 . G T . . ANN=T|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|1/3|c.10-10G>T|||||| 22 38074477 . C T . . ANN=T|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|2/3|c.90-13C>T|||||| 22 38074598 . C T . . ANN=T|synonymous_variant|LOW|LGALS1|LGALS1|transcript|NM_002305.3|Coding|3/4|c.198C>T|p.Gly66Gly|295/558|198/408|66/135|| 22 38074613 . C T . . ANN=T|synonymous_variant|LOW|LGALS1|LGALS1|transcript|NM_002305.3|Coding|3/4|c.213C>T|p.Thr71Thr|310/558|213/408|71/135|| 22 38074614 . G A . . ANN=A|missense_variant|MODERATE|LGALS1|LGALS1|transcript|NM_002305.3|Coding|3/4|c.214G>A|p.Glu72Lys|311/558|214/408|72/135|| 22 38074682 . G A . . ANN=A|intron_variant|MODIFIER|LGALS1|LGALS1|transcript|NM_002305.3|Coding|3/3|c.261+21G>A|||||| 22 38075660 . A T . . ANN=T|synonymous_variant|LOW|LGALS1|LGALS1|transcript|NM_002305.3|Coding|4/4|c.312A>T|p.Gly104Gly|409/558|312/408|104/135|| 22 38075683 . G A . . ANN=A|missense_variant|MODERATE|LGALS1|LGALS1|transcript|NM_002305.3|Coding|4/4|c.335G>A|p.Arg112His|432/558|335/408|112/135|| 22 38075720 . C T . . ANN=T|synonymous_variant|LOW|LGALS1|LGALS1|transcript|NM_002305.3|Coding|4/4|c.372C>T|p.Asp124Asp|469/558|372/408|124/135|| 22 38082372 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|1/6|c.-28G>C|||||28| 22 38082421 . A C . . ANN=C|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|1/6|c.22A>C|p.Lys8Gln|78/2840|22/642|8/213|| 22 38082442 . C T . . ANN=T|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|1/6|c.43C>T|p.Arg15Trp|99/2840|43/642|15/213|| 22 38082479 . G T . . ANN=T|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|1/6|c.80G>T|p.Arg27Met|136/2840|80/642|27/213|| 22 38083908 . T G . . ANN=G|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|1/5|c.84-9T>G|||||| 22 38083979 . T C . . ANN=C|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|2/6|c.146T>C|p.Ile49Thr|202/2840|146/642|49/213|| 22 38084029 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|NOL12|NOL12|transcript|NM_024313.2|Coding|2/5|c.189+7A>G|||||| 22 38084040 . G T . . ANN=T|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|2/5|c.189+18G>T|||||| 22 38084404 . G A . . ANN=A|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|3/5|c.238+37G>A|||||| 22 38084817 . G A . . ANN=A|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|3/5|c.239-40G>A|||||| 22 38084896 . C T . . ANN=T|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|4/6|c.278C>T|p.Thr93Met|334/2840|278/642|93/213|| 22 38084910 . T C . . ANN=C|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|4/6|c.292T>C|p.Tyr98His|348/2840|292/642|98/213|| 22 38085033 . C T . . ANN=T|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|4/5|c.381+34C>T|||||| 22 38086725 . G A . . ANN=A|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|5/6|c.403G>A|p.Glu135Lys|459/2840|403/642|135/213|| 22 38086736 . G A . . ANN=A|synonymous_variant|LOW|NOL12|NOL12|transcript|NM_024313.2|Coding|5/6|c.414G>A|p.Ala138Ala|470/2840|414/642|138/213|| 22 38086744 . C T . . ANN=T|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|5/6|c.422C>T|p.Thr141Met|478/2840|422/642|141/213|| 22 38086745 . G A . . ANN=A|synonymous_variant|LOW|NOL12|NOL12|transcript|NM_024313.2|Coding|5/6|c.423G>A|p.Thr141Thr|479/2840|423/642|141/213|| 22 38086785 . C T . . ANN=T|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|5/6|c.463C>T|p.Pro155Ser|519/2840|463/642|155/213|| 22 38086823 . C G . . ANN=G|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|5/5|c.479+22C>G|||||| 22 38086826 . C T . . ANN=T|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|5/5|c.479+25C>T|||||| 22 38086835 . C G . . ANN=G|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|5/5|c.479+34C>G|||||| 22 38087144 . A G . . ANN=G|intron_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|5/5|c.480-37A>G|||||| 22 38087237 . A G . . ANN=G|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|6/6|c.536A>G|p.Lys179Arg|592/2840|536/642|179/213|| 22 38087309 . G C . . ANN=C|missense_variant|MODERATE|NOL12|NOL12|transcript|NM_024313.2|Coding|6/6|c.608G>C|p.Arg203Pro|664/2840|608/642|203/213|| 22 38087359 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|6/6|c.*16G>A|||||16| 22 38087378 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|6/6|c.*35C>T|||||35| 22 38087382 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NOL12|NOL12|transcript|NM_024313.2|Coding|6/6|c.*39G>A|||||39| 22 38097359 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|3/24|c.-14C>G|||||14| 22 38097492 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|3/23|c.114+6C>T|||||| 22 38097502 . A G . . ANN=G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|3/23|c.114+16A>G|||||| 22 38097529 . G C . . ANN=C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|3/23|c.114+43G>C|||||| 22 38106399 . C T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|3/23|c.115-35C>T|||||| 22 38106403 . G A . . ANN=A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|3/23|c.115-31G>A|||||| 22 38106473 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|4/24|c.154G>A|p.Asp52Asn|425/10145|154/7098|52/2365|| 22 38106514 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|4/24|c.195C>T|p.Ser65Ser|466/10145|195/7098|65/2365|| 22 38109206 . T C . . ANN=C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|4/23|c.255-11T>C|||||| 22 38109227 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|5/24|c.265C>G|p.Pro89Ala|536/10145|265/7098|89/2365|| 22 38109327 . T C . . ANN=C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|5/24|c.365T>C|p.Leu122Ser|636/10145|365/7098|122/2365|| 22 38109343 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|5/24|c.381C>T|p.Asn127Asn|652/10145|381/7098|127/2365|| 22 38109353 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|5/24|c.391G>A|p.Gly131Ser|662/10145|391/7098|131/2365|| 22 38109371 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|5/24|c.409A>G|p.Ser137Gly|680/10145|409/7098|137/2365|| 22 38111789 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|6/24|c.476G>A|p.Arg159Lys|747/10145|476/7098|159/2365|| 22 38111790 . G T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|6/24|c.477G>T|p.Arg159Ser|748/10145|477/7098|159/2365|| 22 38111817 . C A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|6/24|c.504C>A|p.Asp168Glu|775/10145|504/7098|168/2365|| 22 38111897 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|6/24|c.584C>T|p.Thr195Ile|855/10145|584/7098|195/2365|| 22 38119166 . C T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|6/23|c.629-26C>T|||||| 22 38119213 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.650G>A|p.Ser217Asn|921/10145|650/7098|217/2365|| 22 38119214 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.651C>T|p.Ser217Ser|922/10145|651/7098|217/2365|| 22 38119239 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.676C>T|p.Arg226Trp|947/10145|676/7098|226/2365|| 22 38119272 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.709C>T|p.Arg237Trp|980/10145|709/7098|237/2365|| 22 38119330 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.767C>T|p.Thr256Met|1038/10145|767/7098|256/2365|| 22 38119378 . C A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.815C>A|p.Thr272Lys|1086/10145|815/7098|272/2365|| 22 38119476 . A C . . ANN=C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.913A>C|p.Thr305Pro|1184/10145|913/7098|305/2365|| 22 38119514 . G T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.951G>T|p.Glu317Asp|1222/10145|951/7098|317/2365|| 22 38119527 . G T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.964G>T|p.Ala322Ser|1235/10145|964/7098|322/2365|| 22 38119545 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.982G>A|p.Asp328Asn|1253/10145|982/7098|328/2365|| 22 38119695 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.1132C>T|p.Pro378Ser|1403/10145|1132/7098|378/2365|| 22 38119721 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.1158C>T|p.Asp386Asp|1429/10145|1158/7098|386/2365|| 22 38119753 . CTCA C . . ANN=C|disruptive_inframe_deletion|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.1191_1193delTCA|p.Gln398del|1462/10145|1191/7098|397/2365|| 22 38119754 . TCAA T . . ANN=|disruptive_inframe_deletion|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.1193_1195delAAC|p.Gln398del|1464/10145|1193/7098|398/2365||INFO_REALIGN_3_PRIME 22 38120175 . GCCT G . . ANN=|disruptive_inframe_deletion|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.1617_1619delCTC|p.Ser540del|1888/10145|1617/7098|539/2365||INFO_REALIGN_3_PRIME 22 38120542 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.1979C>T|p.Ala660Val|2250/10145|1979/7098|660/2365|| 22 38120688 . T G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2125T>G|p.Ser709Ala|2396/10145|2125/7098|709/2365|| 22 38120712 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2149C>G|p.Gln717Glu|2420/10145|2149/7098|717/2365|| 22 38120740 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2177G>A|p.Arg726Gln|2448/10145|2177/7098|726/2365|| 22 38120797 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2234G>A|p.Arg745Lys|2505/10145|2234/7098|745/2365|| 22 38120834 . C G . . ANN=G|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2271C>G|p.Ser757Ser|2542/10145|2271/7098|757/2365|| 22 38120955 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2392C>T|p.Arg798Trp|2663/10145|2392/7098|798/2365|| 22 38120956 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2393G>A|p.Arg798Gln|2664/10145|2393/7098|798/2365|| 22 38120995 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2432A>G|p.Gln811Arg|2703/10145|2432/7098|811/2365|| 22 38121013 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2450C>G|p.Thr817Ser|2721/10145|2450/7098|817/2365|| 22 38121017 . T C . . ANN=C|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2454T>C|p.Cys818Cys|2725/10145|2454/7098|818/2365|| 22 38121040 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2477C>T|p.Ser826Leu|2748/10145|2477/7098|826/2365|| 22 38121152 . C A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2589C>A|p.Asn863Lys|2860/10145|2589/7098|863/2365|| 22 38121173 . A G . . ANN=G|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2610A>G|p.Gln870Gln|2881/10145|2610/7098|870/2365|| 22 38121227 . A G . . ANN=G|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2664A>G|p.Gln888Gln|2935/10145|2664/7098|888/2365|| 22 38121258 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2695C>G|p.Arg899Gly|2966/10145|2695/7098|899/2365|| 22 38121287 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2724G>A|p.Ser908Ser|2995/10145|2724/7098|908/2365|| 22 38121374 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2811C>T|p.Ile937Ile|3082/10145|2811/7098|937/2365|| 22 38121486 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2923C>T|p.Arg975Trp|3194/10145|2923/7098|975/2365|| 22 38121502 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2939C>T|p.Ser980Phe|3210/10145|2939/7098|980/2365|| 22 38121555 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.2992G>A|p.Ala998Thr|3263/10145|2992/7098|998/2365|| 22 38121631 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3068C>T|p.Ala1023Val|3339/10145|3068/7098|1023/2365|| 22 38121652 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3089C>G|p.Pro1030Arg|3360/10145|3089/7098|1030/2365|| 22 38121696 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3133C>T|p.Arg1045Cys|3404/10145|3133/7098|1045/2365|| 22 38121725 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3162C>T|p.His1054His|3433/10145|3162/7098|1054/2365|| 22 38121795 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3232C>T|p.Arg1078Cys|3503/10145|3232/7098|1078/2365|| 22 38121806 . A G . . ANN=G|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3243A>G|p.Gln1081Gln|3514/10145|3243/7098|1081/2365|| 22 38121932 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3369C>T|p.Ser1123Ser|3640/10145|3369/7098|1123/2365|| 22 38122028 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3465C>T|p.His1155His|3736/10145|3465/7098|1155/2365|| 22 38122122 . T C . . ANN=C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3559T>C|p.Phe1187Leu|3830/10145|3559/7098|1187/2365|| 22 38122170 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3607A>G|p.Thr1203Ala|3878/10145|3607/7098|1203/2365|| 22 38122198 . T A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3635T>A|p.Leu1212Gln|3906/10145|3635/7098|1212/2365|| 22 38122252 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3689C>T|p.Pro1230Leu|3960/10145|3689/7098|1230/2365|| 22 38122362 . C A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3799C>A|p.Arg1267Arg|4070/10145|3799/7098|1267/2365|| 22 38122448 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3885C>T|p.Ser1295Ser|4156/10145|3885/7098|1295/2365|| 22 38122462 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|7/24|c.3899A>G|p.His1300Arg|4170/10145|3899/7098|1300/2365|| 22 38129332 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|8/24|c.3975G>A|p.Gln1325Gln|4246/10145|3975/7098|1325/2365|| 22 38130375 . A C . . ANN=C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|8/23|c.4063-31A>C|||||| 22 38130385 . A C . . ANN=C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|8/23|c.4063-21A>C|||||| 22 38130420 . T C . . ANN=C|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4077T>C|p.Pro1359Pro|4348/10145|4077/7098|1359/2365|| 22 38130442 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4099C>T|p.Arg1367Trp|4370/10145|4099/7098|1367/2365|| 22 38130446 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4103G>A|p.Arg1368Gln|4374/10145|4103/7098|1368/2365|| 22 38130459 . G T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4116G>T|p.Glu1372Asp|4387/10145|4116/7098|1372/2365|| 22 38130472 . T C . . ANN=C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4129T>C|p.Trp1377Arg|4400/10145|4129/7098|1377/2365|| 22 38130508 . C A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4165C>A|p.Leu1389Ile|4436/10145|4165/7098|1389/2365|| 22 38130521 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4178C>T|p.Pro1393Leu|4449/10145|4178/7098|1393/2365|| 22 38130597 . A G . . ANN=G|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4254A>G|p.Ala1418Ala|4525/10145|4254/7098|1418/2365|| 22 38130642 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4299G>A|p.Pro1433Pro|4570/10145|4299/7098|1433/2365|| 22 38130676 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4333A>G|p.Arg1445Gly|4604/10145|4333/7098|1445/2365|| 22 38130827 . A T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4484A>T|p.Glu1495Val|4755/10145|4484/7098|1495/2365|| 22 38130910 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4567G>A|p.Ala1523Thr|4838/10145|4567/7098|1523/2365|| 22 38130986 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4643C>T|p.Pro1548Leu|4914/10145|4643/7098|1548/2365|| 22 38131043 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4700G>A|p.Arg1567Gln|4971/10145|4700/7098|1567/2365|| 22 38131071 . T C . . ANN=C|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4728T>C|p.Arg1576Arg|4999/10145|4728/7098|1576/2365|| 22 38131275 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.4932C>T|p.Pro1644Pro|5203/10145|4932/7098|1644/2365|| 22 38131373 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.5030C>T|p.Thr1677Ile|5301/10145|5030/7098|1677/2365|| 22 38131395 . G T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.5052G>T|p.Thr1684Thr|5323/10145|5052/7098|1684/2365|| 22 38131401 . C G . . ANN=G|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|9/24|c.5058C>G|p.Pro1686Pro|5329/10145|5058/7098|1686/2365|| 22 38136941 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|11/24|c.5224C>T|p.Leu1742Phe|5495/10145|5224/7098|1742/2365|| 22 38137087 . G A . . ANN=A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|11/23|c.5322+48G>A|||||| 22 38142199 . G T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|11/23|c.5322+5160G>T|||||| 22 38142222 . GA G,GAAA,GAAAA . . ANN=G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|11/23|c.5322+5184delA||||||,GAAA|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|11/23|c.5322+5184_5322+5185insAA||||||,GAAAA|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|11/23|c.5322+5184_5322+5185insAAA|||||| 22 38142235 . A AAAG . . ANN=AAAG|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|11/23|c.5322+5196_5322+5197insAAG|||||| 22 38142468 . A G . . ANN=G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|11/23|c.5323-5311A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|1/7|c.183+41A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|1/13|c.183+41A>G|||||| 22 38147805 . A T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|12/24|c.5349A>T|p.Gly1783Gly|5620/10145|5349/7098|1783/2365||,T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|2/8|c.210A>T|p.Gly70Gly|214/1729|210/1296|70/431||,T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|2/14|c.210A>T|p.Gly70Gly|214/4739|210/1959|70/652|| 22 38150836 . A G . . ANN=G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|12/23|c.5380-48A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|2/7|c.241-48A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|2/13|c.241-48A>G|||||| 22 38150870 . C T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|12/23|c.5380-14C>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|2/7|c.241-14C>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|2/13|c.241-14C>T|||||| 22 38150871 . A G . . ANN=G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|12/23|c.5380-13A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|2/7|c.241-13A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|2/13|c.241-13A>G|||||| 22 38150875 . T A . . ANN=A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|12/23|c.5380-9T>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|2/7|c.241-9T>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|2/13|c.241-9T>A|||||| 22 38150908 . A T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|13/24|c.5404A>T|p.Thr1802Ser|5675/10145|5404/7098|1802/2365||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|3/8|c.265A>T|p.Thr89Ser|269/1729|265/1296|89/431||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|3/14|c.265A>T|p.Thr89Ser|269/4739|265/1959|89/652|| 22 38151000 . A G . . ANN=G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|13/23|c.5487+9A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|3/7|c.348+9A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|3/13|c.348+9A>G|||||| 22 38151100 . TG T . . ANN=T|splice_region_variant&intron_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|13/23|c.5488-7delG||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|3/7|c.349-7delG||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|3/13|c.349-7delG|||||| 22 38151170 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|14/24|c.5550G>A|p.Val1850Val|5821/10145|5550/7098|1850/2365||,A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|4/8|c.411G>A|p.Val137Val|415/1729|411/1296|137/431||,A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|4/14|c.411G>A|p.Val137Val|415/4739|411/1959|137/652|| 22 38151516 . G A . . ANN=A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|14/23|c.5578-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|4/7|c.439-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|4/13|c.439-41G>A|||||| 22 38151567 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|15/24|c.5588C>T|p.Ala1863Val|5859/10145|5588/7098|1863/2365||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|5/8|c.449C>T|p.Ala150Val|453/1729|449/1296|150/431||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|5/14|c.449C>T|p.Ala150Val|453/4739|449/1959|150/652|| 22 38151606 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|15/24|c.5627G>A|p.Arg1876Gln|5898/10145|5627/7098|1876/2365||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|5/8|c.488G>A|p.Arg163Gln|492/1729|488/1296|163/431||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|5/14|c.488G>A|p.Arg163Gln|492/4739|488/1959|163/652|| 22 38153607 . G C . . ANN=C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|15/23|c.5688-13G>C||||||,C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|5/7|c.549-13G>C||||||,C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|5/13|c.549-13G>C|||||| 22 38153696 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|16/24|c.5764C>T|p.Arg1922Trp|6035/10145|5764/7098|1922/2365||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|6/8|c.625C>T|p.Arg209Trp|629/1729|625/1296|209/431||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|6/14|c.625C>T|p.Arg209Trp|629/4739|625/1959|209/652|| 22 38153699 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|16/24|c.5767G>A|p.Ala1923Thr|6038/10145|5767/7098|1923/2365||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|6/8|c.628G>A|p.Ala210Thr|632/1729|628/1296|210/431||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|6/14|c.628G>A|p.Ala210Thr|632/4739|628/1959|210/652|| 22 38153701 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|16/24|c.5769G>A|p.Ala1923Ala|6040/10145|5769/7098|1923/2365||,A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|6/8|c.630G>A|p.Ala210Ala|634/1729|630/1296|210/431||,A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|6/14|c.630G>A|p.Ala210Ala|634/4739|630/1959|210/652|| 22 38153835 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|16/24|c.5903G>A|p.Arg1968His|6174/10145|5903/7098|1968/2365||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|6/8|c.764G>A|p.Arg255His|768/1729|764/1296|255/431||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|6/14|c.764G>A|p.Arg255His|768/4739|764/1959|255/652|| 22 38154067 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|16/24|c.6135C>T|p.Pro2045Pro|6406/10145|6135/7098|2045/2365||,T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|6/8|c.996C>T|p.Pro332Pro|1000/1729|996/1296|332/431||,T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|6/14|c.996C>T|p.Pro332Pro|1000/4739|996/1959|332/652|| 22 38154189 . G A . . ANN=A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|16/23|c.6213+44G>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|6/7|c.1074+44G>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|6/13|c.1074+44G>A|||||| 22 38154193 . C T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|16/23|c.6213+48C>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|6/7|c.1074+48C>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|6/13|c.1074+48C>T|||||| 22 38155195 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/24|c.6248G>A|p.Arg2083His|6519/10145|6248/7098|2083/2365||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|7/8|c.1109G>A|p.Arg370His|1113/1729|1109/1296|370/431||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/14|c.1109G>A|p.Arg370His|1113/4739|1109/1959|370/652|| 22 38155217 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/24|c.6270G>A|p.Gln2090Gln|6541/10145|6270/7098|2090/2365||,A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|7/8|c.1131G>A|p.Gln377Gln|1135/1729|1131/1296|377/431||,A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/14|c.1131G>A|p.Gln377Gln|1135/4739|1131/1959|377/652|| 22 38155219 . G C . . ANN=C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/24|c.6272G>C|p.Ser2091Thr|6543/10145|6272/7098|2091/2365||,C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|7/8|c.1133G>C|p.Ser378Thr|1137/1729|1133/1296|378/431||,C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/14|c.1133G>C|p.Ser378Thr|1137/4739|1133/1959|378/652|| 22 38155255 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/24|c.6308C>T|p.Pro2103Leu|6579/10145|6308/7098|2103/2365||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|7/8|c.1169C>T|p.Pro390Leu|1173/1729|1169/1296|390/431||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/14|c.1169C>T|p.Pro390Leu|1173/4739|1169/1959|390/652|| 22 38155279 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/23|c.6324+8C>T||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|7/7|c.1185+8C>T||||||,T|splice_region_variant&intron_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/13|c.1185+8C>T|||||| 22 38155317 . C G . . ANN=G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/23|c.6324+46C>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|7/7|c.1185+46C>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/13|c.1185+46C>G|||||| 22 38155398 . C T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/23|c.6324+127C>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|7/7|c.1186-26C>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/13|c.1185+127C>T|||||| 22 38155462 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|8/8|c.1224G>A|p.Arg408Arg|1228/1729|1224/1296|408/431||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/23|c.6324+191G>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/13|c.1185+191G>A|||||| 22 38155497 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_138632.2|Coding|8/8|c.1259A>G|p.Lys420Arg|1263/1729|1259/1296|420/431||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|17/23|c.6324+226A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|7/13|c.1185+226A>G|||||| 22 38161834 . C T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|18/23|c.6472+10C>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|8/13|c.1333+10C>T|||||| 22 38161835 . T TG . . ANN=TG|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|18/23|c.6472+11_6472+12insG||||||,TG|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|8/13|c.1333+11_1333+12insG|||||| 22 38161838 . G T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|18/23|c.6472+14G>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|8/13|c.1333+14G>T|||||| 22 38161839 . G GA . . ANN=GA|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|18/23|c.6472+15_6472+16insA||||||,GA|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|8/13|c.1333+15_1333+16insA|||||| 22 38161857 . G A . . ANN=A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|18/23|c.6472+33G>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|8/13|c.1333+33G>A|||||| 22 38164106 . C T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|19/24|c.6498C>T|p.Tyr2166Tyr|6769/10145|6498/7098|2166/2365||,T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|9/14|c.1359C>T|p.Tyr453Tyr|1363/4739|1359/1959|453/652|| 22 38164164 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|19/24|c.6556G>A|p.Gly2186Ser|6827/10145|6556/7098|2186/2365||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|9/14|c.1417G>A|p.Gly473Ser|1421/4739|1417/1959|473/652|| 22 38164179 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|19/24|c.6571C>T|p.His2191Tyr|6842/10145|6571/7098|2191/2365||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|9/14|c.1432C>T|p.His478Tyr|1436/4739|1432/1959|478/652|| 22 38165091 . A T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|20/24|c.6632A>T|p.Gln2211Leu|6903/10145|6632/7098|2211/2365||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|10/14|c.1493A>T|p.Gln498Leu|1497/4739|1493/1959|498/652|| 22 38165151 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|20/24|c.6692G>A|p.Arg2231His|6963/10145|6692/7098|2231/2365||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|10/14|c.1553G>A|p.Arg518His|1557/4739|1553/1959|518/652|| 22 38165153 . C T . . ANN=T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|20/24|c.6694C>T|p.Arg2232Cys|6965/10145|6694/7098|2232/2365||,T|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|10/14|c.1555C>T|p.Arg519Cys|1559/4739|1555/1959|519/652|| 22 38165223 . CG C . . ANN=C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|20/23|c.6735+30delG||||||,C|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|10/13|c.1596+30delG|||||| 22 38165269 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|21/24|c.6736G>A|p.Glu2246Lys|7007/10145|6736/7098|2246/2365||,A|missense_variant&splice_region_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|11/14|c.1597G>A|p.Glu533Lys|1601/4739|1597/1959|533/652|| 22 38165302 . C G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|21/24|c.6769C>G|p.Gln2257Glu|7040/10145|6769/7098|2257/2365||,G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|11/14|c.1630C>G|p.Gln544Glu|1634/4739|1630/1959|544/652|| 22 38165304 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|21/24|c.6771G>A|p.Gln2257Gln|7042/10145|6771/7098|2257/2365||,A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|11/14|c.1632G>A|p.Gln544Gln|1636/4739|1632/1959|544/652|| 22 38165339 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|21/24|c.6806A>G|p.Asn2269Ser|7077/10145|6806/7098|2269/2365||,G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|11/14|c.1667A>G|p.Asn556Ser|1671/4739|1667/1959|556/652|| 22 38167607 . G T . . ANN=T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|21/23|c.6850-50G>T||||||,T|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|11/13|c.1711-50G>T|||||| 22 38167662 . G T . . ANN=T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|22/24|c.6855G>T|p.Leu2285Leu|7126/10145|6855/7098|2285/2365||,T|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|12/14|c.1716G>T|p.Leu572Leu|1720/4739|1716/1959|572/652|| 22 38167669 . G A . . ANN=A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|22/24|c.6862G>A|p.Val2288Ile|7133/10145|6862/7098|2288/2365||,A|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|12/14|c.1723G>A|p.Val575Ile|1727/4739|1723/1959|575/652|| 22 38167706 . T C . . ANN=C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|22/24|c.6899T>C|p.Val2300Ala|7170/10145|6899/7098|2300/2365||,C|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|12/14|c.1760T>C|p.Val587Ala|1764/4739|1760/1959|587/652|| 22 38168567 . G A . . ANN=A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|22/23|c.6937-41G>A||||||,A|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|12/13|c.1798-41G>A|||||| 22 38168578 . A G . . ANN=G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|22/23|c.6937-30A>G||||||,G|intron_variant|MODIFIER|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|12/13|c.1798-30A>G|||||| 22 38168645 . A G . . ANN=G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|23/24|c.6974A>G|p.Tyr2325Cys|7245/10145|6974/7098|2325/2365||,G|missense_variant|MODERATE|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|13/14|c.1835A>G|p.Tyr612Cys|1839/4739|1835/1959|612/652|| 22 38168703 . G A . . ANN=A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_001039141.2|Coding|23/24|c.7032G>A|p.Glu2344Glu|7303/10145|7032/7098|2344/2365||,A|synonymous_variant|LOW|TRIOBP|TRIOBP|transcript|NM_007032.5|Coding|13/14|c.1893G>A|p.Glu631Glu|1897/4739|1893/1959|631/652|| 22 38201542 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|H1F0|H1F0|transcript|NM_005318.3|Coding|1/1|c.-10A>G|||||10| 22 38201546 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|H1F0|H1F0|transcript|NM_005318.3|Coding|1/1|c.-6G>A|||||6| 22 38201761 . G A . . ANN=A|synonymous_variant|LOW|H1F0|H1F0|transcript|NM_005318.3|Coding|1/1|c.210G>A|p.Leu70Leu|648/2330|210/585|70/194|| 22 38201860 . G A . . ANN=A|synonymous_variant|LOW|H1F0|H1F0|transcript|NM_005318.3|Coding|1/1|c.309G>A|p.Lys103Lys|747/2330|309/585|103/194|| 22 38202015 . A G . . ANN=G|missense_variant|MODERATE|H1F0|H1F0|transcript|NM_005318.3|Coding|1/1|c.464A>G|p.Lys155Arg|902/2330|464/585|155/194|| 22 38203942 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/10|c.-33G>C|||||33|,C|5_prime_UTR_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|1/9|c.-33G>C|||||33| 22 38203958 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/10|c.-17C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|1/9|c.-17C>T||||||,T|5_prime_UTR_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/10|c.-17C>T|||||17|,T|5_prime_UTR_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|1/9|c.-17C>T|||||17| 22 38203979 . G A . . ANN=A|stop_gained|HIGH|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/10|c.5G>A|p.Trp2*|68/1656|5/1338|2/445||,A|stop_gained|HIGH|GCAT|GCAT|transcript|NM_014291.3|Coding|1/9|c.5G>A|p.Trp2*|68/1504|5/1260|2/419||;LOF=(GCAT|GCAT|2|1.00);NMD=(GCAT|GCAT|2|1.00) 22 38204029 . C T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/10|c.55C>T|p.Arg19Cys|118/1656|55/1338|19/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|1/9|c.55C>T|p.Arg19Cys|118/1504|55/1260|19/419|| 22 38204033 . C T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/10|c.59C>T|p.Ala20Val|122/1656|59/1338|20/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|1/9|c.59C>T|p.Ala20Val|122/1504|59/1260|20/419|| 22 38204089 . C T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/10|c.115C>T|p.Arg39Cys|178/1656|115/1338|39/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|1/9|c.115C>T|p.Arg39Cys|178/1504|115/1260|39/419|| 22 38204130 . C T . . ANN=T|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/10|c.156C>T|p.Ser52Ser|219/1656|156/1338|52/445||,T|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|1/9|c.156C>T|p.Ser52Ser|219/1504|156/1260|52/419|| 22 38204180 . C A,G,T . . ANN=A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/9|c.196+10C>A||||||,G|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/9|c.196+10C>G||||||,T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/9|c.196+10C>T||||||,A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|1/8|c.196+10C>A||||||,G|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|1/8|c.196+10C>G||||||,T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|1/8|c.196+10C>T|||||| 22 38204209 . C T . . ANN=T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|1/9|c.196+39C>T||||||,T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|1/8|c.196+39C>T|||||| 22 38205989 . T C . . ANN=C|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|2/10|c.230T>C|p.Leu77Ser|293/1656|230/1338|77/445||,C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|1/8|c.197-45T>C|||||| 22 38206081 . C T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|2/10|c.322C>T|p.Pro108Ser|385/1656|322/1338|108/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|2/9|c.244C>T|p.Pro82Ser|307/1504|244/1260|82/419|| 22 38206124 . G T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|2/10|c.365G>T|p.Gly122Val|428/1656|365/1338|122/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|2/9|c.287G>T|p.Gly96Val|350/1504|287/1260|96/419|| 22 38208872 . G C . . ANN=C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|2/9|c.406-22G>C||||||,C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|2/8|c.328-22G>C|||||| 22 38208984 . G C . . ANN=C|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|3/10|c.496G>C|p.Gly166Arg|559/1656|496/1338|166/445||,C|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|3/9|c.418G>C|p.Gly140Arg|481/1504|418/1260|140/419|| 22 38209502 . G A . . ANN=A|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/10|c.540G>A|p.Ser180Ser|603/1656|540/1338|180/445||,A|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|4/9|c.462G>A|p.Ser154Ser|525/1504|462/1260|154/419|| 22 38209527 . A T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/10|c.565A>T|p.Ile189Phe|628/1656|565/1338|189/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|4/9|c.487A>T|p.Ile163Phe|550/1504|487/1260|163/419|| 22 38209586 . C T . . ANN=T|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/10|c.624C>T|p.Ala208Ala|687/1656|624/1338|208/445||,T|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|4/9|c.546C>T|p.Ala182Ala|609/1504|546/1260|182/419|| 22 38209618 . T C . . ANN=C|splice_donor_variant&intron_variant|HIGH|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/9|c.654+2T>C||||||,C|splice_donor_variant&intron_variant|HIGH|GCAT|GCAT|transcript|NM_014291.3|Coding|4/8|c.576+2T>C||||||;LOF=(GCAT|GCAT|2|1.00) 22 38209623 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/9|c.654+7C>T||||||,T|splice_region_variant&intron_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|4/8|c.576+7C>T|||||| 22 38209627 . G A . . ANN=A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/9|c.654+11G>A||||||,A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|4/8|c.576+11G>A|||||| 22 38209649 . C T . . ANN=T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/9|c.654+33C>T||||||,T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|4/8|c.576+33C>T|||||| 22 38209650 . G A . . ANN=A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/9|c.654+34G>A||||||,A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|4/8|c.576+34G>A|||||| 22 38209651 . C T . . ANN=T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/9|c.654+35C>T||||||,T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|4/8|c.576+35C>T|||||| 22 38211106 . C T . . ANN=T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/9|c.655-27C>T||||||,T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|4/8|c.577-27C>T|||||| 22 38211117 . C G . . ANN=G|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|4/9|c.655-16C>G||||||,G|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|4/8|c.577-16C>G|||||| 22 38211281 . C G . . ANN=G|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|5/10|c.803C>G|p.Thr268Arg|866/1656|803/1338|268/445||,G|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|5/9|c.725C>G|p.Thr242Arg|788/1504|725/1260|242/419|| 22 38211445 . G A . . ANN=A|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|6/10|c.830G>A|p.Gly277Asp|893/1656|830/1338|277/445||,A|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|6/9|c.752G>A|p.Gly251Asp|815/1504|752/1260|251/419|| 22 38211521 . T C . . ANN=C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|6/9|c.892+14T>C||||||,C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|6/8|c.814+14T>C|||||| 22 38211649 . C G . . ANN=G|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|6/9|c.893-21C>G||||||,G|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|6/8|c.815-21C>G|||||| 22 38211659 . C T . . ANN=T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|6/9|c.893-11C>T||||||,T|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|6/8|c.815-11C>T|||||| 22 38211711 . C T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|7/10|c.934C>T|p.Arg312Trp|997/1656|934/1338|312/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|7/9|c.856C>T|p.Arg286Trp|919/1504|856/1260|286/419|| 22 38211728 . A G . . ANN=G|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|7/10|c.951A>G|p.Pro317Pro|1014/1656|951/1338|317/445||,G|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|7/9|c.873A>G|p.Pro291Pro|936/1504|873/1260|291/419|| 22 38211729 . T TA . . ANN=A|frameshift_variant&stop_gained|HIGH|GCAT|GCAT|transcript|NM_001171690.1|Coding|7/10|c.953dupA|p.Tyr318fs|1017/1656|954/1338|318/445||INFO_REALIGN_3_PRIME,A|frameshift_variant&stop_gained|HIGH|GCAT|GCAT|transcript|NM_014291.3|Coding|7/9|c.875dupA|p.Tyr292fs|939/1504|876/1260|292/419||INFO_REALIGN_3_PRIME;LOF=(GCAT|GCAT|2|1.00);NMD=(GCAT|GCAT|2|1.00) 22 38211743 . C T . . ANN=T|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|7/10|c.966C>T|p.Asn322Asn|1029/1656|966/1338|322/445||,T|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|7/9|c.888C>T|p.Asn296Asn|951/1504|888/1260|296/419|| 22 38212158 . G A . . ANN=A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|7/9|c.1065-49G>A||||||,A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|7/8|c.987-49G>A|||||| 22 38212243 . C G . . ANN=G|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|8/10|c.1101C>G|p.Ile367Met|1164/1656|1101/1338|367/445||,G|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|8/9|c.1023C>G|p.Ile341Met|1086/1504|1023/1260|341/419|| 22 38212254 . G A . . ANN=A|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|8/10|c.1112G>A|p.Ser371Asn|1175/1656|1112/1338|371/445||,A|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|8/9|c.1034G>A|p.Ser345Asn|1097/1504|1034/1260|345/419|| 22 38212289 . C T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|8/10|c.1147C>T|p.Arg383Trp|1210/1656|1147/1338|383/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|8/9|c.1069C>T|p.Arg357Trp|1132/1504|1069/1260|357/419|| 22 38212302 . G C . . ANN=C|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|8/10|c.1160G>C|p.Arg387Pro|1223/1656|1160/1338|387/445||,C|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|8/9|c.1082G>C|p.Arg361Pro|1145/1504|1082/1260|361/419|| 22 38212315 . C T . . ANN=T|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|8/10|c.1173C>T|p.Asp391Asp|1236/1656|1173/1338|391/445||,T|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|8/9|c.1095C>T|p.Asp365Asp|1158/1504|1095/1260|365/419|| 22 38212337 . G C . . ANN=C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|8/9|c.1186+9G>C||||||,C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|8/8|c.1108+9G>C|||||| 22 38212540 . G C . . ANN=C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|8/9|c.1187-34G>C||||||,C|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|8/8|c.1109-34G>C|||||| 22 38212551 . G A . . ANN=A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|8/9|c.1187-23G>A||||||,A|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|8/8|c.1109-23G>A|||||| 22 38212588 . G A . . ANN=A|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|9/10|c.1201G>A|p.Gly401Arg|1264/1656|1201/1338|401/445||,A|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|9/9|c.1123G>A|p.Gly375Arg|1186/1504|1123/1260|375/419|| 22 38212624 . C T . . ANN=T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|9/10|c.1237C>T|p.Arg413Trp|1300/1656|1237/1338|413/445||,T|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|9/9|c.1159C>T|p.Arg387Trp|1222/1504|1159/1260|387/419|| 22 38212638 . G A . . ANN=A|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_001171690.1|Coding|9/10|c.1251G>A|p.Gln417Gln|1314/1656|1251/1338|417/445||,A|synonymous_variant|LOW|GCAT|GCAT|transcript|NM_014291.3|Coding|9/9|c.1173G>A|p.Gln391Gln|1236/1504|1173/1260|391/419|| 22 38212654 . A C . . ANN=C|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|9/10|c.1267A>C|p.Ser423Arg|1330/1656|1267/1338|423/445||,C|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|9/9|c.1189A>C|p.Ser397Arg|1252/1504|1189/1260|397/419|| 22 38212660 . G GA . . ANN=A|frameshift_variant|HIGH|GCAT|GCAT|transcript|NM_001171690.1|Coding|9/10|c.1275dupA|p.Asp426fs|1339/1656|1276/1338|426/445||INFO_REALIGN_3_PRIME,A|frameshift_variant|HIGH|GCAT|GCAT|transcript|NM_014291.3|Coding|9/9|c.1197dupA|p.Asp400fs|1261/1504|1198/1260|400/419||INFO_REALIGN_3_PRIME 22 38212673 . G A . . ANN=A|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_001171690.1|Coding|9/10|c.1286G>A|p.Arg429His|1349/1656|1286/1338|429/445||,A|missense_variant|MODERATE|GCAT|GCAT|transcript|NM_014291.3|Coding|9/9|c.1208G>A|p.Arg403His|1271/1504|1208/1260|403/419|| 22 38212762 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|GCAT|GCAT|transcript|NM_014291.3|Coding|9/9|c.*37A>G|||||37|,G|intron_variant|MODIFIER|GCAT|GCAT|transcript|NM_001171690.1|Coding|9/9|c.*7+30A>G|||||| 22 38219401 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.-13G>A|||||13| 22 38219421 . A C . . ANN=C|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.8A>C|p.Asp3Ala|33/1157|8/1107|3/368|| 22 38219452 . G A . . ANN=A|synonymous_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.39G>A|p.Gly13Gly|64/1157|39/1107|13/368|| 22 38219455 . T A,C,G . . ANN=A|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.42T>A|p.Ser14Arg|67/1157|42/1107|14/368||,G|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.42T>G|p.Ser14Arg|67/1157|42/1107|14/368||,C|synonymous_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.42T>C|p.Ser14Ser|67/1157|42/1107|14/368|| 22 38219465 . G A,T . . ANN=A|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.52G>A|p.Val18Met|77/1157|52/1107|18/368||,T|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.52G>T|p.Val18Leu|77/1157|52/1107|18/368|| 22 38219551 . C T . . ANN=T|synonymous_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.138C>T|p.Gly46Gly|163/1157|138/1107|46/368|| 22 38219570 . C G . . ANN=G|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.157C>G|p.Pro53Ala|182/1157|157/1107|53/368|| 22 38219622 . G A,C,T . . ANN=A|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.209G>A|p.Cys70Tyr|234/1157|209/1107|70/368||,C|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.209G>C|p.Cys70Ser|234/1157|209/1107|70/368||,T|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.209G>T|p.Cys70Phe|234/1157|209/1107|70/368|| 22 38219639 . G C . . ANN=C|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.226G>C|p.Val76Leu|251/1157|226/1107|76/368|| 22 38219664 . C T . . ANN=T|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.251C>T|p.Thr84Met|276/1157|251/1107|84/368|| 22 38219690 . C G . . ANN=G|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|1/2|c.277C>G|p.Leu93Val|302/1157|277/1107|93/368|| 22 38219776 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|1/1|c.359+4C>T|||||| 22 38219787 . G C . . ANN=C|intron_variant|MODIFIER|GALR3|GALR3|transcript|NM_003614.1|Coding|1/1|c.359+15G>C|||||| 22 38220948 . A C . . ANN=C|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.578A>C|p.Tyr193Ser|603/1157|578/1107|193/368|| 22 38220964 . T C . . ANN=C|synonymous_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.594T>C|p.Ala198Ala|619/1157|594/1107|198/368|| 22 38221072 . G A . . ANN=A|synonymous_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.702G>A|p.Gly234Gly|727/1157|702/1107|234/368|| 22 38221117 . T C . . ANN=C|synonymous_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.747T>C|p.Gly249Gly|772/1157|747/1107|249/368|| 22 38221122 . A C . . ANN=C|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.752A>C|p.His251Pro|777/1157|752/1107|251/368|| 22 38221141 . C T . . ANN=T|synonymous_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.771C>T|p.Cys257Cys|796/1157|771/1107|257/368|| 22 38221408 . T G . . ANN=G|synonymous_variant|LOW|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.1038T>G|p.Gly346Gly|1063/1157|1038/1107|346/368|| 22 38221461 . C G,T . . ANN=G|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.1091C>G|p.Ala364Gly|1116/1157|1091/1107|364/368||,T|missense_variant|MODERATE|GALR3|GALR3|transcript|NM_003614.1|Coding|2/2|c.1091C>T|p.Ala364Val|1116/1157|1091/1107|364/368|| 22 38227917 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|8/8|c.*33C>G|||||33|,C|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|8/8|n.1039C>G|||||| 22 38228634 . TGC T . . ANN=T|splice_region_variant&intron_variant|LOW|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|7/7|c.828+8_828+9delGC||||||,T|splice_region_variant&intron_variant|LOW|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|7/7|n.931+8_931+9delGC|||||| 22 38228644 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|7/8|c.828G>A|p.Gln276Gln|936/2099|828/903|276/300||,T|splice_region_variant&non_coding_exon_variant|LOW|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|7/8|n.931G>A|||||| 22 38228673 . G A . . ANN=A|missense_variant|MODERATE|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|7/8|c.799C>T|p.Arg267Cys|907/2099|799/903|267/300||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|7/8|n.902C>T|||||| 22 38228925 . T A . . ANN=A|intron_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|6/7|c.720+40A>T||||||,A|intron_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|6/7|n.823+40A>T|||||| 22 38228981 . C T . . ANN=T|missense_variant|MODERATE|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|6/8|c.704G>A|p.Arg235His|812/2099|704/903|235/300||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|6/8|n.807G>A|||||| 22 38229019 . G C . . ANN=C|missense_variant|MODERATE|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|6/8|c.666C>G|p.Ile222Met|774/2099|666/903|222/300||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|6/8|n.769C>G|||||| 22 38229057 . G A . . ANN=A|missense_variant|MODERATE|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|6/8|c.628C>T|p.Arg210Cys|736/2099|628/903|210/300||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|6/8|n.731C>T|||||| 22 38229061 . A G . . ANN=G|synonymous_variant|LOW|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|6/8|c.624T>C|p.Ala208Ala|732/2099|624/903|208/300||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|6/8|n.727T>C|||||| 22 38229083 . C T . . ANN=T|missense_variant|MODERATE|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|6/8|c.602G>A|p.Arg201His|710/2099|602/903|201/300||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|6/8|n.705G>A|||||| 22 38229191 . A G . . ANN=G|synonymous_variant|LOW|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|5/8|c.570T>C|p.Pro190Pro|678/2099|570/903|190/300||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|5/8|n.673T>C|||||| 22 38229752 . G A . . ANN=A|synonymous_variant|LOW|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|4/8|c.486C>T|p.Leu162Leu|594/2099|486/903|162/300||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|4/8|n.589C>T|||||| 22 38234573 . A G . . ANN=G|missense_variant|MODERATE|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|3/8|c.409T>C|p.Cys137Arg|517/2099|409/903|137/300||,G|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|3/8|n.512T>C|||||| 22 38234580 . C A . . ANN=A|synonymous_variant|LOW|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|3/8|c.402G>T|p.Ala134Ala|510/2099|402/903|134/300||,A|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|3/8|n.505G>T|||||| 22 38234648 . G A . . ANN=A|intron_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|2/7|c.377-43C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|2/7|n.485-48C>T|||||| 22 38236214 . T C . . ANN=C|missense_variant|MODERATE|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|2/8|c.356A>G|p.Asn119Ser|464/2099|356/903|119/300||,C|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|2/8|n.464A>G|||||| 22 38236258 . G A . . ANN=A|intron_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|1/7|c.329-17C>T||||||,A|intron_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|1/7|n.437-17C>T|||||| 22 38240267 . T G . . ANN=G|5_prime_UTR_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|1/8|c.-22A>C|||||22|,G|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|1/8|n.87A>C|||||| 22 38240289 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NM_138797.2|Coding|1/8|c.-44C>A|||||44|,T|non_coding_exon_variant|MODIFIER|MIR658|MIR658|transcript|NR_030395.1|Noncoding|1/1|n.90C>A||||||,T|non_coding_exon_variant|MODIFIER|ANKRD54|ANKRD54|transcript|NR_036556.1|Noncoding|1/8|n.65C>A|||||| 22 38245412 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|1/13|c.-45C>T|||||45|,T|5_prime_UTR_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|1/11|c.-45C>T|||||45| 22 38245441 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|1/13|c.-16C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|1/11|c.-16C>T||||||,T|5_prime_UTR_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|1/13|c.-16C>T|||||16|,T|5_prime_UTR_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|1/11|c.-16C>T|||||16| 22 38245456 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|1/13|c.-1C>T|||||1|,T|5_prime_UTR_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|1/11|c.-1C>T|||||1| 22 38246007 . T A . . ANN=A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|1/12|c.34-15T>A||||||,A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|1/10|c.34-15T>A|||||| 22 38246048 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|2/13|c.60C>T|p.Pro20Pro|138/2091|60/1695|20/564||,T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|2/11|c.60C>T|p.Pro20Pro|138/1947|60/1551|20/516|| 22 38246097 . G A . . ANN=A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|2/12|c.82+27G>A||||||,A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|2/10|c.82+27G>A|||||| 22 38251629 . C G . . ANN=G|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|4/13|c.351C>G|p.Ala117Ala|429/2091|351/1695|117/564||,G|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|4/11|c.351C>G|p.Ala117Ala|429/1947|351/1551|117/516|| 22 38251686 . T C . . ANN=C|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|4/12|c.373+35T>C||||||,C|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|4/10|c.373+35T>C|||||| 22 38251687 . G A . . ANN=A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|4/12|c.373+36G>A||||||,A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|4/10|c.373+36G>A|||||| 22 38254764 . C T . . ANN=T|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|5/12|c.435+17C>T||||||,T|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|5/10|c.435+17C>T|||||| 22 38254768 . GT G . . ANN=G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|5/12|c.435+22delT||||||,G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|5/10|c.435+22delT|||||| 22 38254769 . T G . . ANN=G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|5/12|c.435+22T>G||||||,G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|5/10|c.435+22T>G|||||| 22 38266150 . C G . . ANN=G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|7/12|c.580-33C>G||||||,G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|5/10|c.436-33C>G|||||| 22 38266350 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|8/13|c.747C>T|p.Ser249Ser|825/2091|747/1695|249/564||,T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|6/11|c.603C>T|p.Ser201Ser|681/1947|603/1551|201/516|| 22 38266371 . G A . . ANN=A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|8/12|c.751+17G>A||||||,A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|6/10|c.607+17G>A|||||| 22 38266376 . C G . . ANN=G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|8/12|c.751+22C>G||||||,G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|6/10|c.607+22C>G|||||| 22 38266378 . G A . . ANN=A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|8/12|c.751+24G>A||||||,A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|6/10|c.607+24G>A|||||| 22 38270331 . C T . . ANN=T|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|8/12|c.752-46C>T||||||,T|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|6/10|c.608-46C>T|||||| 22 38270459 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|9/13|c.834C>T|p.Leu278Leu|912/2091|834/1695|278/564||,T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|7/11|c.690C>T|p.Leu230Leu|768/1947|690/1551|230/516|| 22 38270498 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|9/13|c.873C>T|p.Ile291Ile|951/2091|873/1695|291/564||,T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|7/11|c.729C>T|p.Ile243Ile|807/1947|729/1551|243/516|| 22 38270541 . A G . . ANN=G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|9/12|c.906+10A>G||||||,G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|7/10|c.762+10A>G|||||| 22 38270568 . C T . . ANN=T|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|9/12|c.906+37C>T||||||,T|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|7/10|c.762+37C>T|||||| 22 38270578 . A G . . ANN=G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|9/12|c.906+47A>G||||||,G|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|7/10|c.762+47A>G|||||| 22 38271907 . A G . . ANN=G|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|10/13|c.966A>G|p.Ala322Ala|1044/2091|966/1695|322/564||,G|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|8/11|c.822A>G|p.Ala274Ala|900/1947|822/1551|274/516|| 22 38271937 . C T . . ANN=T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|10/13|c.996C>T|p.Ala332Ala|1074/2091|996/1695|332/564||,T|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|8/11|c.852C>T|p.Ala284Ala|930/1947|852/1551|284/516|| 22 38272062 . G A . . ANN=A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|10/12|c.1077+44G>A||||||,A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|8/10|c.933+44G>A|||||| 22 38273675 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|10/12|c.1078-6C>A||||||,A|splice_region_variant&intron_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|8/10|c.934-6C>A|||||| 22 38273676 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|10/12|c.1078-5C>T||||||,T|splice_region_variant&intron_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|8/10|c.934-5C>T|||||| 22 38273710 . G A . . ANN=A|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|11/13|c.1107G>A|p.Ala369Ala|1185/2091|1107/1695|369/564||,A|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|9/11|c.963G>A|p.Ala321Ala|1041/1947|963/1551|321/516|| 22 38273749 . T C . . ANN=C|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_016091.3|Coding|11/13|c.1146T>C|p.Ile382Ile|1224/2091|1146/1695|382/564||,C|synonymous_variant|LOW|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|9/11|c.1002T>C|p.Ile334Ile|1080/1947|1002/1551|334/516|| 22 38274005 . A AC . . ANN=C|frameshift_variant|HIGH|EIF3L|EIF3L|transcript|NM_016091.3|Coding|11/13|c.1404dupC|p.Thr469fs|1483/2091|1405/1695|469/564||INFO_REALIGN_3_PRIME,C|frameshift_variant|HIGH|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|9/11|c.1260dupC|p.Thr421fs|1339/1947|1261/1551|421/516||INFO_REALIGN_3_PRIME;LOF=(EIF3L|EIF3L|2|1.00) 22 38274208 . G A . . ANN=A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|11/12|c.1575+30G>A||||||,A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|9/10|c.1431+30G>A|||||| 22 38282873 . G A . . ANN=A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|12/12|c.1656+21G>A||||||,A|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|10/10|c.1512+21G>A|||||| 22 38282897 . C T . . ANN=T|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|12/12|c.1656+45C>T||||||,T|intron_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|10/10|c.1512+45C>T|||||| 22 38284477 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_016091.3|Coding|13/13|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|EIF3L|EIF3L|transcript|NM_001242923.1|Coding|11/11|c.*6T>C|||||6| 22 38302469 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|1/16|c.40C>T|p.Arg14Cys|315/4495|40/2592|14/863|| 22 38302599 . C G . . ANN=G|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|1/15|c.146+24C>G|||||| 22 38307909 . T C . . ANN=C|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|1/15|c.147-50T>C|||||| 22 38307970 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|2/16|c.158C>T|p.Ser53Leu|433/4495|158/2592|53/863|| 22 38307992 . C G . . ANN=G|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|2/16|c.180C>G|p.Phe60Leu|455/4495|180/2592|60/863|| 22 38308044 . GTGTA G . . ANN=G|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|2/15|c.195+38_195+41delTGTA|||||| 22 38308048 . ATGTG A . . ANN=A|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|2/15|c.195+42_195+45delTGTG|||||| 22 38308394 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|3/16|c.232G>A|p.Ala78Thr|507/4495|232/2592|78/863|| 22 38313724 . G A . . ANN=A|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|4/16|c.348G>A|p.Ser116Ser|623/4495|348/2592|116/863|| 22 38313787 . A T . . ANN=T|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|4/16|c.411A>T|p.Pro137Pro|686/4495|411/2592|137/863|| 22 38313848 . C T . . ANN=T|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|4/15|c.426+46C>T|||||| 22 38315015 . C A . . ANN=A|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|4/15|c.427-28C>A|||||| 22 38315018 . A G . . ANN=G|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|4/15|c.427-25A>G|||||| 22 38315032 . G A . . ANN=A|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|4/15|c.427-11G>A|||||| 22 38317930 . C T . . ANN=T|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|5/15|c.570-49C>T|||||| 22 38317938 . A G . . ANN=G|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|5/15|c.570-41A>G|||||| 22 38318029 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/16|c.620C>T|p.Pro207Leu|895/4495|620/2592|207/863|| 22 38318039 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/16|c.630C>T|p.Gly210Gly|905/4495|630/2592|210/863|| 22 38318144 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/16|c.735C>T|p.Leu245Leu|1010/4495|735/2592|245/863|| 22 38318176 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/16|c.767G>A|p.Gly256Asp|1042/4495|767/2592|256/863|| 22 38318238 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/16|c.829C>T|p.Arg277Trp|1104/4495|829/2592|277/863|| 22 38318262 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/16|c.853C>T|p.Arg285Trp|1128/4495|853/2592|285/863|| 22 38318268 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/16|c.859C>T|p.Pro287Ser|1134/4495|859/2592|287/863|| 22 38318367 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/16|c.958C>T|p.Arg320Trp|1233/4495|958/2592|320/863|| 22 38318465 . C T . . ANN=T|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/15|c.1024+32C>T|||||| 22 38320658 . C T . . ANN=T|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|6/15|c.1025-9C>T|||||| 22 38320673 . T G . . ANN=G|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|7/16|c.1031T>G|p.Leu344Arg|1306/4495|1031/2592|344/863|| 22 38320732 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|7/15|c.1082+8G>T|||||| 22 38320753 . C T . . ANN=T|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|7/15|c.1082+29C>T|||||| 22 38321653 . TC T . . ANN=T|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|7/15|c.1083-14delC|||||| 22 38321704 . G A . . ANN=A|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|8/16|c.1119G>A|p.Thr373Thr|1394/4495|1119/2592|373/863|| 22 38321806 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|8/16|c.1221C>T|p.Thr407Thr|1496/4495|1221/2592|407/863|| 22 38321977 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|8/16|c.1392C>T|p.Tyr464Tyr|1667/4495|1392/2592|464/863|| 22 38322014 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|8/16|c.1429C>T|p.Arg477Cys|1704/4495|1429/2592|477/863|| 22 38322090 . C T . . ANN=T|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|8/15|c.1465+40C>T|||||| 22 38323458 . G A . . ANN=A|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/16|c.1506G>A|p.Ser502Ser|1781/4495|1506/2592|502/863|| 22 38323475 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/16|c.1523C>T|p.Ala508Val|1798/4495|1523/2592|508/863|| 22 38323483 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/16|c.1531G>A|p.Val511Met|1806/4495|1531/2592|511/863|| 22 38323507 . G T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/16|c.1555G>T|p.Ala519Ser|1830/4495|1555/2592|519/863|| 22 38323554 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/16|c.1602C>T|p.Pro534Pro|1877/4495|1602/2592|534/863|| 22 38323611 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/16|c.1659C>T|p.Ser553Ser|1934/4495|1659/2592|553/863|| 22 38323700 . C T . . ANN=T|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/16|c.1748C>T|p.Pro583Leu|2023/4495|1748/2592|583/863|| 22 38323784 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/16|c.1832G>A|p.Arg611Lys|2107/4495|1832/2592|611/863|| 22 38323847 . C T . . ANN=T|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|9/15|c.1881+14C>T|||||| 22 38327867 . A C . . ANN=C|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|10/16|c.1943A>C|p.Lys648Thr|2218/4495|1943/2592|648/863|| 22 38327893 . G C . . ANN=C|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|10/16|c.1969G>C|p.Val657Leu|2244/4495|1969/2592|657/863|| 22 38327894 . T C . . ANN=C|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|10/16|c.1970T>C|p.Val657Ala|2245/4495|1970/2592|657/863|| 22 38327929 . A C . . ANN=C|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|10/16|c.2005A>C|p.Ile669Leu|2280/4495|2005/2592|669/863|| 22 38327978 . G A . . ANN=A|intron_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|10/15|c.2016+38G>A|||||| 22 38328575 . T C . . ANN=C|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|11/16|c.2032T>C|p.Tyr678His|2307/4495|2032/2592|678/863|| 22 38328597 . A G . . ANN=G|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|11/16|c.2054A>G|p.His685Arg|2329/4495|2054/2592|685/863|| 22 38328618 . A G . . ANN=G|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|11/16|c.2075A>G|p.Glu692Gly|2350/4495|2075/2592|692/863|| 22 38328676 . C T . . ANN=T|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|11/16|c.2133C>T|p.Gly711Gly|2408/4495|2133/2592|711/863|| 22 38329072 . G A . . ANN=A|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|13/16|c.2261G>A|p.Arg754His|2536/4495|2261/2592|754/863|| 22 38333103 . G A . . ANN=A|synonymous_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|14/16|c.2325G>A|p.Glu775Glu|2600/4495|2325/2592|775/863|| 22 38333177 . A G . . ANN=G|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|14/16|c.2399A>G|p.Asn800Ser|2674/4495|2399/2592|800/863|| 22 38336713 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MICALL1|MICALL1|transcript|NM_033386.3|Coding|15/15|c.2471-3C>T|||||| 22 38336720 . C A . . ANN=A|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|16/16|c.2475C>A|p.Phe825Leu|2750/4495|2475/2592|825/863|| 22 38336794 . A G . . ANN=G|missense_variant|MODERATE|MICALL1|MICALL1|transcript|NM_033386.3|Coding|16/16|c.2549A>G|p.Asn850Ser|2824/4495|2549/2592|850/863|| 22 38336854 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|16/16|c.*17T>C|||||17| 22 38336868 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|MICALL1|MICALL1|transcript|NM_033386.3|Coding|16/16|c.*31C>G|||||31| 22 38340134 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|7/7|c.*48C>T|||||48|,A|3_prime_UTR_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|6/6|c.*48C>T|||||48| 22 38340167 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|7/7|c.*15C>T|||||15|,A|3_prime_UTR_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|6/6|c.*15C>T|||||15| 22 38340186 . G A . . ANN=A|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_032561.4|Coding|7/7|c.650C>T|p.Thr217Ile|859/1988|650/654|217/217||,A|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|6/6|c.587C>T|p.Thr196Ile|648/1777|587/591|196/196|| 22 38340452 . C T . . ANN=T|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_032561.4|Coding|6/7|c.554G>A|p.Arg185Gln|763/1988|554/654|185/217||,T|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|5/6|c.491G>A|p.Arg164Gln|552/1777|491/591|164/196|| 22 38340454 . G A . . ANN=A|synonymous_variant|LOW|C22orf23|C22orf23|transcript|NM_032561.4|Coding|6/7|c.552C>T|p.Tyr184Tyr|761/1988|552/654|184/217||,A|synonymous_variant|LOW|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|5/6|c.489C>T|p.Tyr163Tyr|550/1777|489/591|163/196|| 22 38340508 . CT C . . ANN=C|frameshift_variant|HIGH|C22orf23|C22orf23|transcript|NM_032561.4|Coding|6/7|c.497delA|p.Gln166fs|706/1988|497/654|166/217||,C|frameshift_variant|HIGH|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|5/6|c.434delA|p.Gln145fs|495/1777|434/591|145/196||;LOF=(C22orf23|C22orf23|2|1.00) 22 38340541 . G A . . ANN=A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|5/6|c.482-17C>T||||||,A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|4/5|c.419-17C>T|||||| 22 38340573 . G A . . ANN=A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|5/6|c.482-49C>T||||||,A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|4/5|c.419-49C>T|||||| 22 38341017 . C G . . ANN=G|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|5/6|c.481+32G>C||||||,G|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|4/5|c.418+32G>C|||||| 22 38341038 . C G . . ANN=G|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|5/6|c.481+11G>C||||||,G|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|4/5|c.418+11G>C|||||| 22 38341124 . T G . . ANN=G|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_032561.4|Coding|5/7|c.406A>C|p.Met136Leu|615/1988|406/654|136/217||,G|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|4/6|c.343A>C|p.Met115Leu|404/1777|343/591|115/196|| 22 38341134 . T C . . ANN=C|synonymous_variant|LOW|C22orf23|C22orf23|transcript|NM_032561.4|Coding|5/7|c.396A>G|p.Thr132Thr|605/1988|396/654|132/217||,C|synonymous_variant|LOW|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|4/6|c.333A>G|p.Thr111Thr|394/1777|333/591|111/196|| 22 38341225 . C A . . ANN=A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|4/6|c.350-45G>T||||||,A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|3/5|c.287-45G>T|||||| 22 38347490 . C A . . ANN=A|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_032561.4|Coding|3/7|c.143G>T|p.Arg48Leu|352/1988|143/654|48/217||,A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|2/5|c.103+1564G>T|||||| 22 38347491 . G A . . ANN=A|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_032561.4|Coding|3/7|c.142C>T|p.Arg48Cys|351/1988|142/654|48/217||,A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|2/5|c.103+1563C>T|||||| 22 38349030 . G A . . ANN=A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|2/6|c.103+24C>T||||||,A|intron_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|2/5|c.103+24C>T|||||| 22 38349068 . C G . . ANN=G|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_032561.4|Coding|2/7|c.89G>C|p.Cys30Ser|298/1988|89/654|30/217||,G|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|2/6|c.89G>C|p.Cys30Ser|150/1777|89/591|30/196|| 22 38349099 . G C . . ANN=C|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_032561.4|Coding|2/7|c.58C>G|p.Pro20Ala|267/1988|58/654|20/217||,C|missense_variant|MODERATE|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|2/6|c.58C>G|p.Pro20Ala|119/1777|58/591|20/196|| 22 38349162 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_032561.4|Coding|2/7|c.-6C>A|||||6|,T|5_prime_UTR_variant|MODIFIER|C22orf23|C22orf23|transcript|NM_001207062.1|Coding|2/6|c.-6C>A|||||6| 22 38352789 . C T . . ANN=T|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|2/6|c.30C>T|p.Gly10Gly|155/1425|30/477|10/158||,T|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_021974.4|Coding|2/5|c.30C>T|p.Gly10Gly|155/2109|30/384|10/127||,T|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|2/5|c.30C>T|p.Gly10Gly|155/1266|30/318|10/105||,T|5_prime_UTR_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301129.1|Coding|2/6|c.-96C>T|||||1627|,T|non_coding_exon_variant|MODIFIER|POLR2F|POLR2F|transcript|NR_125371.1|Noncoding|2/5|n.155C>T|||||| 22 38355317 . C T . . ANN=T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|2/5|c.91-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301129.1|Coding|3/5|c.64-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_021974.4|Coding|2/4|c.91-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NR_125371.1|Noncoding|2/4|n.275-36C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|2/4|c.91-36C>T|||||| 22 38355343 . T C . . ANN=C|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|2/5|c.91-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301129.1|Coding|3/5|c.64-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_021974.4|Coding|2/4|c.91-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NR_125371.1|Noncoding|2/4|n.275-10T>C||||||,C|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|2/4|c.91-10T>C|||||| 22 38355403 . C T . . ANN=T|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|3/6|c.141C>T|p.Ala47Ala|266/1425|141/477|47/158||,T|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_001301129.1|Coding|4/6|c.114C>T|p.Ala38Ala|364/2207|114/357|38/118||,T|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_021974.4|Coding|3/5|c.141C>T|p.Ala47Ala|266/2109|141/384|47/127||,T|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|3/5|c.141C>T|p.Ala47Ala|266/1266|141/318|47/105||,T|non_coding_exon_variant|MODIFIER|POLR2F|POLR2F|transcript|NR_125371.1|Noncoding|3/5|n.325C>T|||||| 22 38355531 . A G . . ANN=G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|3/5|c.221+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301129.1|Coding|4/5|c.194+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_021974.4|Coding|3/4|c.221+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NR_125371.1|Noncoding|3/4|n.405+48A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|3/4|c.221+48A>G|||||| 22 38363096 . A G . . ANN=G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|3/5|c.222-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301129.1|Coding|4/5|c.195-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_021974.4|Coding|3/4|c.222-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NR_125371.1|Noncoding|3/4|n.406-10A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|3/4|c.222-10A>G|||||| 22 38363660 . C T . . ANN=T|missense_variant|MODERATE|POLR2F|POLR2F|transcript|NM_001301129.1|Coding|6/6|c.295C>T|p.Arg99Cys|545/2207|295/357|99/118||,T|missense_variant|MODERATE|POLR2F|POLR2F|transcript|NM_021974.4|Coding|5/5|c.322C>T|p.Arg108Cys|447/2109|322/384|108/127||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+483C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+483C>T||||||,T|non_coding_exon_variant|MODIFIER|POLR2F|POLR2F|transcript|NR_125371.1|Noncoding|5/5|n.506C>T|||||| 22 38363671 . A G . . ANN=G|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_001301129.1|Coding|6/6|c.306A>G|p.Pro102Pro|556/2207|306/357|102/118||,G|synonymous_variant|LOW|POLR2F|POLR2F|transcript|NM_021974.4|Coding|5/5|c.333A>G|p.Pro111Pro|458/2109|333/384|111/127||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+494A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+494A>G||||||,G|non_coding_exon_variant|MODIFIER|POLR2F|POLR2F|transcript|NR_125371.1|Noncoding|5/5|n.517A>G|||||| 22 38369610 . C T . . ANN=T|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|4/4|c.1293G>A|p.Ser431Ser|1571/2862|1293/1401|431/466||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+6433C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+6433C>T|||||| 22 38369658 . C T . . ANN=T|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|4/4|c.1245G>A|p.Ser415Ser|1523/2862|1245/1401|415/466||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+6481C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+6481C>T|||||| 22 38369976 . A G . . ANN=G|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|4/4|c.927T>C|p.His309His|1205/2862|927/1401|309/466||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+6799A>G||||||,G|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+6799A>G|||||| 22 38370078 . G A . . ANN=A|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|4/4|c.825C>T|p.Asn275Asn|1103/2862|825/1401|275/466||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+6901G>A||||||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+6901G>A|||||| 22 38370081 . G A . . ANN=A|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|4/4|c.822C>T|p.Gly274Gly|1100/2862|822/1401|274/466||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+6904G>A||||||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+6904G>A|||||| 22 38370156 . C T . . ANN=T|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|4/4|c.747G>A|p.Leu249Leu|1025/2862|747/1401|249/466||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+6979C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+6979C>T|||||| 22 38370246 . AGCAGGTTAGAG A . . ANN=A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.293+7070_293+7080delGCAGGTTAGAG||||||,A|intron_variant|MODIFIER|SOX10|SOX10|transcript|NM_006941.3|Coding|3/3|c.698-52_698-42delCTCTAACCTGC||||||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+7070_293+7080delGCAGGTTAGAG|||||| 22 38373967 . C T . . ANN=T|missense_variant|MODERATE|SOX10|SOX10|transcript|NM_006941.3|Coding|3/4|c.604G>A|p.Ala202Thr|882/2862|604/1401|202/466||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-8194C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+10790C>T|||||| 22 38373997 . C T . . ANN=T|missense_variant|MODERATE|SOX10|SOX10|transcript|NM_006941.3|Coding|3/4|c.574G>A|p.Gly192Ser|852/2862|574/1401|192/466||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-8164C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+10820C>T|||||| 22 38374064 . C T . . ANN=T|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|3/4|c.507G>A|p.Pro169Pro|785/2862|507/1401|169/466||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-8097C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+10887C>T|||||| 22 38379354 . G C . . ANN=C|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-2807G>C||||||,C|intron_variant|MODIFIER|SOX10|SOX10|transcript|NM_006941.3|Coding|2/3|c.428+10C>G||||||,C|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+16177G>C|||||| 22 38379444 . C T . . ANN=T|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|2/4|c.348G>A|p.Gln116Gln|626/2862|348/1401|116/466||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-2717C>T||||||,T|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+16267C>T|||||| 22 38379543 . G A . . ANN=A|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|2/4|c.249C>T|p.Tyr83Tyr|527/2862|249/1401|83/466||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-2618G>A||||||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+16366G>A|||||| 22 38379585 . G A . . ANN=A|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|2/4|c.207C>T|p.Pro69Pro|485/2862|207/1401|69/466||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-2576G>A||||||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+16408G>A|||||| 22 38379670 . C A . . ANN=A|missense_variant|MODERATE|SOX10|SOX10|transcript|NM_006941.3|Coding|2/4|c.122G>T|p.Gly41Val|400/2862|122/1401|41/466||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-2491C>A||||||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+16493C>A|||||| 22 38379774 . G A . . ANN=A|synonymous_variant|LOW|SOX10|SOX10|transcript|NM_006941.3|Coding|2/4|c.18C>T|p.Asp6Asp|296/2862|18/1401|6/466||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301130.1|Coding|4/5|c.294-2387G>A||||||,A|intron_variant|MODIFIER|POLR2F|POLR2F|transcript|NM_001301131.1|Coding|4/4|c.293+16597G>A|||||| 22 38455203 . C A . . ANN=A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|2/12|c.42-38C>A||||||,A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|2/12|c.42-38C>A||||||,A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|2/12|c.42-38C>A|||||| 22 38460984 . C T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|3/12|c.154-25C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|3/12|c.154-25C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|3/12|c.154-25C>T|||||| 22 38461038 . C T . . ANN=T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|4/13|c.183C>T|p.Asp61Asp|475/2109|183/1248|61/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|4/13|c.183C>T|p.Asp61Asp|422/2056|183/1248|61/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|4/13|c.183C>T|p.Asp61Asp|573/2207|183/1248|61/415|| 22 38461077 . T C . . ANN=C|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|4/13|c.222T>C|p.Asn74Asn|514/2109|222/1248|74/415||,C|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|4/13|c.222T>C|p.Asn74Asn|461/2056|222/1248|74/415||,C|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|4/13|c.222T>C|p.Asn74Asn|612/2207|222/1248|74/415|| 22 38461153 . G A . . ANN=A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|4/12|c.282+16G>A||||||,A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|4/12|c.282+16G>A||||||,A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|4/12|c.282+16G>A|||||| 22 38465026 . TG T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|5/12|c.350-13delG||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|5/12|c.350-13delG||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|5/12|c.350-13delG|||||| 22 38465029 . C T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|5/12|c.350-11C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|5/12|c.350-11C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|5/12|c.350-11C>T|||||| 22 38465033 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|5/12|c.350-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|5/12|c.350-7C>G||||||,G|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|5/12|c.350-7C>G|||||| 22 38465034 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|5/12|c.350-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|5/12|c.350-6G>A||||||,A|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|5/12|c.350-6G>A|||||| 22 38465089 . C T . . ANN=T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|6/13|c.399C>T|p.Thr133Thr|691/2109|399/1248|133/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|6/13|c.399C>T|p.Thr133Thr|638/2056|399/1248|133/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|6/13|c.399C>T|p.Thr133Thr|789/2207|399/1248|133/415|| 22 38465116 . C T . . ANN=T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|6/13|c.426C>T|p.Ala142Ala|718/2109|426/1248|142/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|6/13|c.426C>T|p.Ala142Ala|665/2056|426/1248|142/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|6/13|c.426C>T|p.Ala142Ala|816/2207|426/1248|142/415|| 22 38466805 . C T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|6/12|c.440-40C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|6/12|c.440-40C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|6/12|c.440-40C>T|||||| 22 38466882 . C T . . ANN=T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|7/13|c.477C>T|p.Thr159Thr|769/2109|477/1248|159/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|7/13|c.477C>T|p.Thr159Thr|716/2056|477/1248|159/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|7/13|c.477C>T|p.Thr159Thr|867/2207|477/1248|159/415|| 22 38466917 . C T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|7/12|c.493+19C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|7/12|c.493+19C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|7/12|c.493+19C>T|||||| 22 38467655 . G A . . ANN=A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|7/12|c.494-34G>A||||||,A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|7/12|c.494-34G>A||||||,A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|7/12|c.494-34G>A|||||| 22 38467666 . G T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|7/12|c.494-23G>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|7/12|c.494-23G>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|7/12|c.494-23G>T|||||| 22 38467759 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|8/12|c.556+8C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|8/12|c.556+8C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|8/12|c.556+8C>T|||||| 22 38467784 . G C . . ANN=C|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|8/12|c.556+33G>C||||||,C|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|8/12|c.556+33G>C||||||,C|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|8/12|c.556+33G>C|||||| 22 38468504 . G A . . ANN=A|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_001039583.1|Coding|9/13|c.577G>A|p.Val193Met|869/2109|577/1248|193/415||,A|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_001039584.1|Coding|9/13|c.577G>A|p.Val193Met|816/2056|577/1248|193/415||,A|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_012407.3|Coding|9/13|c.577G>A|p.Val193Met|967/2207|577/1248|193/415|| 22 38468578 . C T . . ANN=T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|9/13|c.651C>T|p.Ile217Ile|943/2109|651/1248|217/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|9/13|c.651C>T|p.Ile217Ile|890/2056|651/1248|217/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|9/13|c.651C>T|p.Ile217Ile|1041/2207|651/1248|217/415|| 22 38468617 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|9/13|c.690G>A|p.Pro230Pro|982/2109|690/1248|230/415||,A|splice_region_variant&synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|9/13|c.690G>A|p.Pro230Pro|929/2056|690/1248|230/415||,A|splice_region_variant&synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|9/13|c.690G>A|p.Pro230Pro|1080/2207|690/1248|230/415|| 22 38468632 . G A . . ANN=A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|9/12|c.690+15G>A||||||,A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|9/12|c.690+15G>A||||||,A|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|9/12|c.690+15G>A|||||| 22 38468643 . T G . . ANN=G|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|9/12|c.690+26T>G||||||,G|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|9/12|c.690+26T>G||||||,G|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|9/12|c.690+26T>G|||||| 22 38468644 . C T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|9/12|c.690+27C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|9/12|c.690+27C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|9/12|c.690+27C>T|||||| 22 38469048 . G A . . ANN=A|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|10/13|c.732G>A|p.Pro244Pro|1024/2109|732/1248|244/415||,A|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|10/13|c.732G>A|p.Pro244Pro|971/2056|732/1248|244/415||,A|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|10/13|c.732G>A|p.Pro244Pro|1122/2207|732/1248|244/415|| 22 38469081 . C T . . ANN=T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|10/13|c.765C>T|p.Asp255Asp|1057/2109|765/1248|255/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|10/13|c.765C>T|p.Asp255Asp|1004/2056|765/1248|255/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|10/13|c.765C>T|p.Asp255Asp|1155/2207|765/1248|255/415|| 22 38470272 . G T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|11/12|c.835-42G>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|11/12|c.835-42G>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|11/12|c.835-42G>T|||||| 22 38470427 . G C . . ANN=C|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|12/13|c.948G>C|p.Leu316Leu|1240/2109|948/1248|316/415||,C|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|12/13|c.948G>C|p.Leu316Leu|1187/2056|948/1248|316/415||,C|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|12/13|c.948G>C|p.Leu316Leu|1338/2207|948/1248|316/415|| 22 38470464 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|12/12|c.979+6C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|12/12|c.979+6C>T||||||,T|splice_region_variant&intron_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|12/12|c.979+6C>T|||||| 22 38470467 . C T . . ANN=T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|12/12|c.979+9C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|12/12|c.979+9C>T||||||,T|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|12/12|c.979+9C>T|||||| 22 38470837 . C G . . ANN=G|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|12/12|c.980-34C>G||||||,G|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|12/12|c.980-34C>G||||||,G|intron_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|12/12|c.980-34C>G|||||| 22 38470909 . A T . . ANN=T|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_001039583.1|Coding|13/13|c.1018A>T|p.Thr340Ser|1310/2109|1018/1248|340/415||,T|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_001039584.1|Coding|13/13|c.1018A>T|p.Thr340Ser|1257/2056|1018/1248|340/415||,T|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_012407.3|Coding|13/13|c.1018A>T|p.Thr340Ser|1408/2207|1018/1248|340/415|| 22 38470938 . C T . . ANN=T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039583.1|Coding|13/13|c.1047C>T|p.Tyr349Tyr|1339/2109|1047/1248|349/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_001039584.1|Coding|13/13|c.1047C>T|p.Tyr349Tyr|1286/2056|1047/1248|349/415||,T|synonymous_variant|LOW|PICK1|PICK1|transcript|NM_012407.3|Coding|13/13|c.1047C>T|p.Tyr349Tyr|1437/2207|1047/1248|349/415|| 22 38471068 . G A . . ANN=A|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_001039583.1|Coding|13/13|c.1177G>A|p.Gly393Arg|1469/2109|1177/1248|393/415||,A|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_001039584.1|Coding|13/13|c.1177G>A|p.Gly393Arg|1416/2056|1177/1248|393/415||,A|missense_variant|MODERATE|PICK1|PICK1|transcript|NM_012407.3|Coding|13/13|c.1177G>A|p.Gly393Arg|1567/2207|1177/1248|393/415|| 22 38471149 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039583.1|Coding|13/13|c.*10G>A|||||10|,A|3_prime_UTR_variant|MODIFIER|PICK1|PICK1|transcript|NM_001039584.1|Coding|13/13|c.*10G>A|||||10|,A|3_prime_UTR_variant|MODIFIER|PICK1|PICK1|transcript|NM_012407.3|Coding|13/13|c.*10G>A|||||10| 22 38474359 . CAA C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|5/5|c.*34_*35delTT|||||34| 22 38474389 . CCT C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|5/5|c.*4_*5delAG|||||4| 22 38474406 . C T . . ANN=T|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|5/5|c.1504G>A|p.Glu502Lys|1634/1896|1504/1515|502/504|| 22 38474450 . TCGCCCCGGGCG T . . ANN=T|frameshift_variant|HIGH|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|5/5|c.1449_1459delCGCCCGGGGCG|p.Ser483fs|1589/1896|1449/1515|483/504|| 22 38474578 . G A . . ANN=A|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|5/5|c.1332C>T|p.Gly444Gly|1462/1896|1332/1515|444/504|| 22 38474662 . G A . . ANN=A|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|5/5|c.1248C>T|p.Ala416Ala|1378/1896|1248/1515|416/504|| 22 38474695 . C T . . ANN=T|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|5/5|c.1215G>A|p.Val405Val|1345/1896|1215/1515|405/504|| 22 38474696 . A G . . ANN=G|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|5/5|c.1214T>C|p.Val405Ala|1344/1896|1214/1515|405/504|| 22 38474746 . GTCCTGTGGGGTCC G . . ANN=G|intron_variant|MODIFIER|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/4|c.1199-48_1199-36delGGACCCCACAGGA|||||| 22 38474761 . C G . . ANN=G|intron_variant|MODIFIER|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/4|c.1199-50G>C|||||| 22 38476827 . C G . . ANN=G|intron_variant|MODIFIER|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/4|c.1198+20G>C|||||| 22 38476946 . C T . . ANN=T|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.1099G>A|p.Val367Met|1229/1896|1099/1515|367/504|| 22 38476989 . G C . . ANN=C|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.1056C>G|p.Ala352Ala|1186/1896|1056/1515|352/504|| 22 38477070 . C T . . ANN=T|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.975G>A|p.Leu325Leu|1105/1896|975/1515|325/504|| 22 38477106 . C T . . ANN=T|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.939G>A|p.Ala313Ala|1069/1896|939/1515|313/504|| 22 38477137 . C A . . ANN=A|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.908G>T|p.Arg303Leu|1038/1896|908/1515|303/504|| 22 38477156 . A C . . ANN=C|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.889T>G|p.Phe297Val|1019/1896|889/1515|297/504|| 22 38477188 . G C . . ANN=C|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.857C>G|p.Thr286Ser|987/1896|857/1515|286/504|| 22 38477275 . G A . . ANN=A|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.770C>T|p.Ala257Val|900/1896|770/1515|257/504|| 22 38477342 . T A . . ANN=A|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.703A>T|p.Arg235Trp|833/1896|703/1515|235/504|| 22 38477371 . G C . . ANN=C|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.674C>G|p.Ala225Gly|804/1896|674/1515|225/504|| 22 38477558 . G A . . ANN=A|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.487C>T|p.Leu163Phe|617/1896|487/1515|163/504|| 22 38477589 . G T . . ANN=T|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|4/5|c.456C>A|p.Gly152Gly|586/1896|456/1515|152/504|| 22 38477930 . G A . . ANN=A|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|3/5|c.324C>T|p.Leu108Leu|454/1896|324/1515|108/504|| 22 38477937 . G T . . ANN=T|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|3/5|c.317C>A|p.Thr106Lys|447/1896|317/1515|106/504|| 22 38478071 . C T . . ANN=T|intron_variant|MODIFIER|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|2/4|c.215-32G>A|||||| 22 38478089 . T C . . ANN=C|intron_variant|MODIFIER|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|2/4|c.215-50A>G|||||| 22 38478666 . C G . . ANN=G|splice_donor_variant&intron_variant|HIGH|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|2/4|c.214+1G>C||||||;LOF=(SLC16A8|SLC16A8|1|1.00) 22 38478679 . G A . . ANN=A|missense_variant|MODERATE|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|2/5|c.202C>T|p.Leu68Phe|332/1896|202/1515|68/504|| 22 38478776 . G GA . . ANN=GA|frameshift_variant|HIGH|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|2/5|c.104dupT|p.Pro36fs|234/1896|104/1515|35/504||;LOF=(SLC16A8|SLC16A8|1|1.00) 22 38478875 . G T . . ANN=T|synonymous_variant|LOW|SLC16A8|SLC16A8|transcript|NM_013356.2|Coding|2/5|c.6C>A|p.Gly2Gly|136/1896|6/1515|2/504|| 22 38481287 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|14/14|c.*20C>T|||||20| 22 38481291 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|14/14|c.*16C>T|||||16| 22 38481297 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|14/14|c.*10C>T|||||10| 22 38481303 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|14/14|c.*4G>A|||||4| 22 38481304 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|14/14|c.*3C>T|||||3| 22 38481311 . C A . . ANN=A|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|14/14|c.1586G>T|p.Arg529Leu|1730/2145|1586/1590|529/529|| 22 38481347 . G C . . ANN=C|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|14/14|c.1550C>G|p.Pro517Arg|1694/2145|1550/1590|517/529|| 22 38481387 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|13/13|c.1515-5T>C|||||| 22 38481643 . G A . . ANN=A|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|13/13|c.1514+50C>T|||||| 22 38481645 . C T . . ANN=T|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|13/13|c.1514+48G>A|||||| 22 38482214 . C T . . ANN=T|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|12/13|c.1467+35G>A|||||| 22 38482255 . G A . . ANN=A|synonymous_variant|LOW|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|12/14|c.1461C>T|p.Asp487Asp|1605/2145|1461/1590|487/529|| 22 38482352 . GTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA G . . ANN=G|disruptive_inframe_deletion|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|12/14|c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA|p.Ile441_Arg454del|1507/2145|1322/1590|441/529|| 22 38482355 . C G . . ANN=G|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|12/14|c.1361G>C|p.Arg454Pro|1505/2145|1361/1590|454/529|| 22 38482409 . C T . . ANN=T|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|12/14|c.1307G>A|p.Arg436Gln|1451/2145|1307/1590|436/529|| 22 38482426 . G A . . ANN=A|synonymous_variant|LOW|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|12/14|c.1290C>T|p.Leu430Leu|1434/2145|1290/1590|430/529|| 22 38482449 . G T . . ANN=T|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|12/14|c.1267C>A|p.Pro423Thr|1411/2145|1267/1590|423/529|| 22 38482491 . T C . . ANN=C|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/13|c.1260-35A>G|||||| 22 38483155 . T TTCATGGGTG . . ANN=TTCATGGGTG|inframe_insertion|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1226_1234dupCACCCATGA|p.Thr409_Met411dup|1378/2145|1234/1590|412/529|| 22 38483156 . T TCATGGGTGT . . ANN=TCATGGGTGT|inframe_insertion|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1225_1233dupACACCCATG|p.Thr409_Met411dup|1377/2145|1233/1590|411/529|| 22 38483171 . G A . . ANN=A|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1219C>T|p.Pro407Ser|1363/2145|1219/1590|407/529|| 22 38483174 . A ACATGGAGGT . . ANN=ACATGGAGGT|inframe_insertion|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1207_1215dupACCTCCATG|p.Thr403_Met405dup|1359/2145|1215/1590|405/529|| 22 38483189 . A AGGTCATGGG . . ANN=AGGTCATGGG|inframe_insertion|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1192_1200dupCCCATGACC|p.Pro398_Thr400dup|1344/2145|1200/1590|400/529|| 22 38483195 . T TGGGGGTCAC . . ANN=TGGGGGTCAC|inframe_insertion|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1186_1194dupGTGACCCCC|p.Val396_Pro398dup|1338/2145|1194/1590|398/529|| 22 38483215 . G T . . ANN=T|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1175C>A|p.Pro392His|1319/2145|1175/1590|392/529|| 22 38483220 . C G . . ANN=G|synonymous_variant|LOW|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1170G>C|p.Val390Val|1314/2145|1170/1590|390/529|| 22 38483222 . C T . . ANN=T|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1168G>A|p.Val390Met|1312/2145|1168/1590|390/529|| 22 38483247 . G A . . ANN=A|synonymous_variant|LOW|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|11/14|c.1143C>T|p.Tyr381Tyr|1287/2145|1143/1590|381/529|| 22 38484755 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|10/14|c.1118C>T|p.Ala373Val|1262/2145|1118/1590|373/529|| 22 38485064 . C G . . ANN=G|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|9/13|c.901+39G>C|||||| 22 38485540 . A G . . ANN=G|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|8/14|c.754T>C|p.Cys252Arg|898/2145|754/1590|252/529|| 22 38493026 . C A . . ANN=A|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|7/13|c.612+13G>T|||||| 22 38493078 . G C . . ANN=C|missense_variant|MODERATE|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|7/14|c.573C>G|p.His191Gln|717/2145|573/1590|191/529|| 22 38493150 . G T . . ANN=T|synonymous_variant|LOW|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|7/14|c.501C>A|p.Ala167Ala|645/2145|501/1590|167/529|| 22 38493187 . TG T . . ANN=T|splice_region_variant&intron_variant|LOW|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|6/13|c.466-3delC|||||| 22 38493196 . A T . . ANN=T|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|6/13|c.466-11T>A|||||| 22 38494032 . G A . . ANN=A|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|6/13|c.465+38C>T|||||| 22 38494040 . T A . . ANN=A|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|6/13|c.465+30A>T|||||| 22 38494394 . G T . . ANN=T|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|5/13|c.348+24C>A|||||| 22 38503847 . C T . . ANN=T|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|4/13|c.276+12G>A|||||| 22 38503967 . C T . . ANN=T|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|3/13|c.215-47G>A|||||| 22 38503968 . C T . . ANN=T|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|3/13|c.215-48G>A|||||| 22 38504372 . T C . . ANN=C|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|2/13|c.128-24A>G|||||| 22 38505100 . G A . . ANN=A|intron_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|2/13|c.127+40C>T|||||| 22 38506509 . A G . . ANN=G|synonymous_variant|LOW|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|1/14|c.24T>C|p.Phe8Phe|168/2145|24/1590|8/529|| 22 38506553 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|BAIAP2L2|BAIAP2L2|transcript|NM_025045.5|Coding|1/14|c.-21C>T|||||21| 22 38508172 . G C . . ANN=C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|17/17|c.2417C>G|p.Pro806Arg|2553/3223|2417/2421|806/806||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|16/16|c.2255C>G|p.Pro752Arg|2391/3061|2255/2259|752/752||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|16/16|c.2255C>G|p.Pro752Arg|2346/3016|2255/2259|752/752|| 22 38508249 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|17/17|c.2340C>T|p.Asn780Asn|2476/3223|2340/2421|780/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|16/16|c.2178C>T|p.Asn726Asn|2314/3061|2178/2259|726/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|16/16|c.2178C>T|p.Asn726Asn|2269/3016|2178/2259|726/752|| 22 38508468 . C A,G,T . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|16/16|c.2276+43G>T||||||,G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|16/16|c.2276+43G>C||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|16/16|c.2276+43G>A||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|15/15|c.2114+43G>T||||||,G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|15/15|c.2114+43G>C||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|15/15|c.2114+43G>A||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|15/15|c.2114+43G>T||||||,G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|15/15|c.2114+43G>C||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|15/15|c.2114+43G>A|||||| 22 38508625 . C G . . ANN=G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|15/16|c.2203-41G>C||||||,G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|14/15|c.2041-41G>C||||||,G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|14/15|c.2041-41G>C|||||| 22 38509647 . C G . . ANN=G|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|15/17|c.2049G>C|p.Lys683Asn|2185/3223|2049/2421|683/806||,G|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|14/16|c.1887G>C|p.Lys629Asn|2023/3061|1887/2259|629/752||,G|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|14/16|c.1887G>C|p.Lys629Asn|1978/3016|1887/2259|629/752|| 22 38509668 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|14/16|c.2035-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|13/15|c.1873-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|13/15|c.1873-7C>T|||||| 22 38511525 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|14/16|c.2034+9C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|13/15|c.1872+9C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|13/15|c.1872+9C>T|||||| 22 38511570 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|14/17|c.1998C>T|p.Thr666Thr|2134/3223|1998/2421|666/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|13/16|c.1836C>T|p.Thr612Thr|1972/3061|1836/2259|612/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|13/16|c.1836C>T|p.Thr612Thr|1927/3016|1836/2259|612/752|| 22 38511591 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|14/17|c.1977C>T|p.Asn659Asn|2113/3223|1977/2421|659/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|13/16|c.1815C>T|p.Asn605Asn|1951/3061|1815/2259|605/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|13/16|c.1815C>T|p.Asn605Asn|1906/3016|1815/2259|605/752|| 22 38511690 . TA T . . ANN=T|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|13/16|c.1880-3delT||||||,T|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|12/15|c.1718-3delT||||||,T|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|12/15|c.1718-3delT|||||| 22 38511696 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|13/16|c.1880-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|12/15|c.1718-8G>A||||||,T|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|12/15|c.1718-8G>A|||||| 22 38512244 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|12/16|c.1743-26C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|11/15|c.1581-26C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|11/15|c.1581-26C>T|||||| 22 38516743 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|12/16|c.1742+23C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|11/15|c.1580+23C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|11/15|c.1580+23C>T|||||| 22 38516753 . C A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|12/16|c.1742+13G>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|11/15|c.1580+13G>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|11/15|c.1580+13G>T|||||| 22 38516754 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|12/16|c.1742+12C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|11/15|c.1580+12C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|11/15|c.1580+12C>T|||||| 22 38516783 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|12/17|c.1725G>A|p.Thr575Thr|1861/3223|1725/2421|575/806||,T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|11/16|c.1563G>A|p.Thr521Thr|1699/3061|1563/2259|521/752||,T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|11/16|c.1563G>A|p.Thr521Thr|1654/3016|1563/2259|521/752|| 22 38516893 . C T . . ANN=T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|12/17|c.1615G>A|p.Gly539Ser|1751/3223|1615/2421|539/806||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|11/16|c.1453G>A|p.Gly485Ser|1589/3061|1453/2259|485/752||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|11/16|c.1453G>A|p.Gly485Ser|1544/3016|1453/2259|485/752|| 22 38516900 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|12/17|c.1608C>T|p.Tyr536Tyr|1744/3223|1608/2421|536/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|11/16|c.1446C>T|p.Tyr482Tyr|1582/3061|1446/2259|482/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|11/16|c.1446C>T|p.Tyr482Tyr|1537/3016|1446/2259|482/752|| 22 38516952 . C T . . ANN=T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|11/16|c.1592-36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|10/15|c.1430-36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|10/15|c.1430-36G>A|||||| 22 38519094 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|11/16|c.1591+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|10/15|c.1429+8C>T||||||,A|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|10/15|c.1429+8C>T|||||| 22 38522344 . T C . . ANN=C|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|10/16|c.1427+34A>G||||||,C|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|9/15|c.1265+34A>G||||||,C|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|9/15|c.1265+34A>G|||||| 22 38522389 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|10/17|c.1416C>T|p.Asp472Asp|1552/3223|1416/2421|472/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|9/16|c.1254C>T|p.Asp418Asp|1390/3061|1254/2259|418/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|9/16|c.1254C>T|p.Asp418Asp|1345/3016|1254/2259|418/752|| 22 38522424 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|10/17|c.1381C>T|p.Arg461Trp|1517/3223|1381/2421|461/806||,A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|9/16|c.1219C>T|p.Arg407Trp|1355/3061|1219/2259|407/752||,A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|9/16|c.1219C>T|p.Arg407Trp|1310/3016|1219/2259|407/752|| 22 38524228 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|9/16|c.1348+48C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|8/15|c.1186+1233C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|8/15|c.1186+1233C>T|||||| 22 38524260 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|9/16|c.1348+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|8/15|c.1186+1201C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|8/15|c.1186+1201C>T|||||| 22 38524337 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|9/17|c.1287G>A|p.Ala429Ala|1423/3223|1287/2421|429/806||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|8/15|c.1186+1124G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|8/15|c.1186+1124G>A|||||| 22 38524338 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|9/17|c.1286C>T|p.Ala429Val|1422/3223|1286/2421|429/806||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|8/15|c.1186+1123C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|8/15|c.1186+1123C>T|||||| 22 38524445 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|8/16|c.1187-8A>G||||||,C|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|8/15|c.1186+1016A>G||||||,C|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|8/15|c.1186+1016A>G|||||| 22 38525561 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|8/17|c.1086C>T|p.Asn362Asn|1222/3223|1086/2421|362/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|8/16|c.1086C>T|p.Asn362Asn|1222/3061|1086/2259|362/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|8/16|c.1086C>T|p.Asn362Asn|1177/3016|1086/2259|362/752|| 22 38528888 . C T . . ANN=T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|7/17|c.1027G>A|p.Ala343Thr|1163/3223|1027/2421|343/806||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|7/16|c.1027G>A|p.Ala343Thr|1163/3061|1027/2259|343/752||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|7/16|c.1027G>A|p.Ala343Thr|1118/3016|1027/2259|343/752|| 22 38528913 . T C . . ANN=C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|7/17|c.1002A>G|p.Ile334Met|1138/3223|1002/2421|334/806||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|7/16|c.1002A>G|p.Ile334Met|1138/3061|1002/2259|334/752||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|7/16|c.1002A>G|p.Ile334Met|1093/3016|1002/2259|334/752|| 22 38528943 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|7/17|c.972G>A|p.Ala324Ala|1108/3223|972/2421|324/806||,T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|7/16|c.972G>A|p.Ala324Ala|1108/3061|972/2259|324/752||,T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|7/16|c.972G>A|p.Ala324Ala|1063/3016|972/2259|324/752|| 22 38528958 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|7/17|c.957G>A|p.Thr319Thr|1093/3223|957/2421|319/806||,T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|7/16|c.957G>A|p.Thr319Thr|1093/3061|957/2259|319/752||,T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|7/16|c.957G>A|p.Thr319Thr|1048/3016|957/2259|319/752|| 22 38530948 . C T . . ANN=T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|6/16|c.894+47G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|6/15|c.894+47G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|6/15|c.894+47G>A|||||| 22 38530955 . C T . . ANN=T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|6/16|c.894+40G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|6/15|c.894+40G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|6/15|c.894+40G>A|||||| 22 38530956 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|6/16|c.894+39C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|6/15|c.894+39C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|6/15|c.894+39C>T|||||| 22 38530970 . C T . . ANN=T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|6/16|c.894+25G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|6/15|c.894+25G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|6/15|c.894+25G>A|||||| 22 38531036 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|6/17|c.853C>T|p.Arg285Cys|989/3223|853/2421|285/806||,A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|6/16|c.853C>T|p.Arg285Cys|989/3061|853/2259|285/752||,A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|6/16|c.853C>T|p.Arg285Cys|944/3016|853/2259|285/752|| 22 38535943 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|5/16|c.797+46C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|5/15|c.797+46C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|5/15|c.797+46C>T|||||| 22 38535946 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|5/16|c.797+43C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|5/15|c.797+43C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|5/15|c.797+43C>T|||||| 22 38535954 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|5/16|c.797+35C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|5/15|c.797+35C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|5/15|c.797+35C>T|||||| 22 38536013 . G A . . ANN=A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|5/17|c.773C>T|p.Ser258Leu|909/3223|773/2421|258/806||,A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|5/16|c.773C>T|p.Ser258Leu|909/3061|773/2259|258/752||,A|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|5/16|c.773C>T|p.Ser258Leu|864/3016|773/2259|258/752|| 22 38539084 . C A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|4/16|c.609+28G>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|4/15|c.609+28G>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|4/15|c.609+28G>T|||||| 22 38539157 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|4/17|c.564C>T|p.Thr188Thr|700/3223|564/2421|188/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|4/16|c.564C>T|p.Thr188Thr|700/3061|564/2259|188/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|4/16|c.564C>T|p.Thr188Thr|655/3016|564/2259|188/752|| 22 38541409 . C T . . ANN=T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|3/16|c.425+36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|3/15|c.425+36G>A||||||,T|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|3/15|c.425+36G>A|||||| 22 38541463 . T C . . ANN=C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|3/17|c.407A>G|p.His136Arg|543/3223|407/2421|136/806||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|3/16|c.407A>G|p.His136Arg|543/3061|407/2259|136/752||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|3/16|c.407A>G|p.His136Arg|498/3016|407/2259|136/752|| 22 38541545 . G C . . ANN=C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|3/17|c.325C>G|p.His109Asp|461/3223|325/2421|109/806||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|3/16|c.325C>G|p.His109Asp|461/3061|325/2259|109/752||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|3/16|c.325C>G|p.His109Asp|416/3016|325/2259|109/752|| 22 38541604 . G T . . ANN=T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|3/17|c.266C>A|p.Ser89Tyr|402/3223|266/2421|89/806||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|3/16|c.266C>A|p.Ser89Tyr|402/3061|266/2259|89/752||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|3/16|c.266C>A|p.Ser89Tyr|357/3016|266/2259|89/752|| 22 38541681 . A G . . ANN=G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/16|c.210-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/15|c.210-21T>C||||||,G|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/15|c.210-21T>C|||||| 22 38541691 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/16|c.210-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/15|c.210-31C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/15|c.210-31C>T|||||| 22 38565209 . G A . . ANN=A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/16|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/15|c.209+16C>T||||||,A|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/15|c.209+16C>T|||||| 22 38565215 . C CA . . ANN=CA|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/16|c.209+9_209+10insT||||||,CA|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/15|c.209+9_209+10insT||||||,CA|intron_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/15|c.209+9_209+10insT|||||| 22 38565247 . T C . . ANN=C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/17|c.187A>G|p.Arg63Gly|323/3223|187/2421|63/806||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/16|c.187A>G|p.Arg63Gly|323/3061|187/2259|63/752||,C|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/16|c.187A>G|p.Arg63Gly|278/3016|187/2259|63/752|| 22 38565262 . C T . . ANN=T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/17|c.172G>A|p.Val58Ile|308/3223|172/2421|58/806||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/16|c.172G>A|p.Val58Ile|308/3061|172/2259|58/752||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/16|c.172G>A|p.Val58Ile|263/3016|172/2259|58/752|| 22 38565263 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/17|c.171C>T|p.Cys57Cys|307/3223|171/2421|57/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/16|c.171C>T|p.Cys57Cys|307/3061|171/2259|57/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/16|c.171C>T|p.Cys57Cys|262/3016|171/2259|57/752|| 22 38565343 . C T . . ANN=T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/17|c.91G>A|p.Asp31Asn|227/3223|91/2421|31/806||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/16|c.91G>A|p.Asp31Asn|227/3061|91/2259|31/752||,T|missense_variant|MODERATE|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/16|c.91G>A|p.Asp31Asn|182/3016|91/2259|31/752|| 22 38565347 . C T . . ANN=T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/17|c.87G>A|p.Val29Val|223/3223|87/2421|29/806||,T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/16|c.87G>A|p.Val29Val|223/3061|87/2259|29/752||,T|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/16|c.87G>A|p.Val29Val|178/3016|87/2259|29/752|| 22 38565395 . G A . . ANN=A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/17|c.39C>T|p.Gly13Gly|175/3223|39/2421|13/806||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/16|c.39C>T|p.Gly13Gly|175/3061|39/2259|13/752||,A|synonymous_variant|LOW|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/16|c.39C>T|p.Gly13Gly|130/3016|39/2259|13/752|| 22 38565453 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/17|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/16|c.-20C>A|||||20|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/16|c.-20C>A|||||20| 22 38565475 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_003560.2|Coding|2/17|c.-42G>A|||||42|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001004426.1|Coding|2/16|c.-42G>A|||||42|,T|5_prime_UTR_variant|MODIFIER|PLA2G6|PLA2G6|transcript|NM_001199562.1|Coding|2/16|c.-42G>A|||||42| 22 38609876 . C G . . ANN=G|missense_variant|MODERATE|MAFF|MAFF|transcript|NM_001161572.1|Coding|2/3|c.16C>G|p.Leu6Val|354/2465|16/495|6/164||,G|missense_variant|MODERATE|MAFF|MAFF|transcript|NM_012323.3|Coding|2/3|c.16C>G|p.Leu6Val|328/2439|16/495|6/164||,G|missense_variant|MODERATE|MAFF|MAFF|transcript|NM_001161573.1|Coding|2/3|c.16C>G|p.Leu6Val|112/2223|16/495|6/164||,G|intron_variant|MODIFIER|MAFF|MAFF|transcript|NM_001161574.1|Coding|1/1|c.-51-551C>G|||||| 22 38609892 . T C . . ANN=C|missense_variant|MODERATE|MAFF|MAFF|transcript|NM_001161572.1|Coding|2/3|c.32T>C|p.Leu11Pro|370/2465|32/495|11/164||,C|missense_variant|MODERATE|MAFF|MAFF|transcript|NM_012323.3|Coding|2/3|c.32T>C|p.Leu11Pro|344/2439|32/495|11/164||,C|missense_variant|MODERATE|MAFF|MAFF|transcript|NM_001161573.1|Coding|2/3|c.32T>C|p.Leu11Pro|128/2223|32/495|11/164||,C|intron_variant|MODIFIER|MAFF|MAFF|transcript|NM_001161574.1|Coding|1/1|c.-51-535T>C|||||| 22 38609901 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAFF|MAFF|transcript|NM_001161572.1|Coding|2/2|c.36+5G>A||||||,A|splice_region_variant&intron_variant|LOW|MAFF|MAFF|transcript|NM_012323.3|Coding|2/2|c.36+5G>A||||||,A|splice_region_variant&intron_variant|LOW|MAFF|MAFF|transcript|NM_001161573.1|Coding|2/2|c.36+5G>A||||||,A|intron_variant|MODIFIER|MAFF|MAFF|transcript|NM_001161574.1|Coding|1/1|c.-51-526G>A|||||| 22 38617497 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|9/9|c.1203C>T|p.Leu401Leu|1427/3626|1203/1224|401/407||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|10/10|c.1005C>T|p.Leu335Leu|1513/3712|1005/1026|335/341||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|9/9|c.1203C>T|p.Leu401Leu|1412/3611|1203/1224|401/407|| 22 38617522 . C T . . ANN=T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|9/9|c.1178G>A|p.Arg393His|1402/3626|1178/1224|393/407||,T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|10/10|c.980G>A|p.Arg327His|1488/3712|980/1026|327/341||,T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|9/9|c.1178G>A|p.Arg393His|1387/3611|1178/1224|393/407|| 22 38617563 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|9/9|c.1137C>T|p.Gly379Gly|1361/3626|1137/1224|379/407||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|10/10|c.939C>T|p.Gly313Gly|1447/3712|939/1026|313/341||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|9/9|c.1137C>T|p.Gly379Gly|1346/3611|1137/1224|379/407|| 22 38617570 . C T . . ANN=T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|9/9|c.1130G>A|p.Arg377His|1354/3626|1130/1224|377/407||,T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|10/10|c.932G>A|p.Arg311His|1440/3712|932/1026|311/341||,T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|9/9|c.1130G>A|p.Arg377His|1339/3611|1130/1224|377/407|| 22 38617704 . G C . . ANN=C|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|9/9|c.996C>G|p.Pro332Pro|1220/3626|996/1224|332/407||,C|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|10/10|c.798C>G|p.Pro266Pro|1306/3712|798/1026|266/341||,C|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|9/9|c.996C>G|p.Pro332Pro|1205/3611|996/1224|332/407|| 22 38617723 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|8/8|c.983-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|9/9|c.785-6C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|8/8|c.983-6C>T|||||| 22 38620771 . G A . . ANN=A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|8/8|c.982+21C>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|9/9|c.784+21C>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|8/8|c.982+21C>T|||||| 22 38620846 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|8/9|c.928C>T|p.Leu310Leu|1152/3626|928/1224|310/407||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|9/10|c.730C>T|p.Leu244Leu|1238/3712|730/1026|244/341||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|8/9|c.928C>T|p.Leu310Leu|1137/3611|928/1224|310/407|| 22 38620907 . G T . . ANN=T|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|8/9|c.867C>A|p.Thr289Thr|1091/3626|867/1224|289/407||,T|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|9/10|c.669C>A|p.Thr223Thr|1177/3712|669/1026|223/341||,T|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|8/9|c.867C>A|p.Thr289Thr|1076/3611|867/1224|289/407|| 22 38620922 . C T . . ANN=T|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|8/9|c.852G>A|p.Ser284Ser|1076/3626|852/1224|284/407||,T|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|9/10|c.654G>A|p.Ser218Ser|1162/3712|654/1026|218/341||,T|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|8/9|c.852G>A|p.Ser284Ser|1061/3611|852/1224|284/407|| 22 38620930 . G A . . ANN=A|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|8/9|c.844C>T|p.Arg282Cys|1068/3626|844/1224|282/407||,A|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|9/10|c.646C>T|p.Arg216Cys|1154/3712|646/1026|216/341||,A|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|8/9|c.844C>T|p.Arg282Cys|1053/3611|844/1224|282/407|| 22 38621003 . G A . . ANN=A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|7/8|c.788-17C>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|8/9|c.590-17C>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|7/8|c.788-17C>T|||||| 22 38621004 . G C . . ANN=C|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|7/8|c.788-18C>G||||||,C|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|8/9|c.590-18C>G||||||,C|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|7/8|c.788-18C>G|||||| 22 38621456 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|7/9|c.762C>T|p.Ser254Ser|986/3626|762/1224|254/407||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|8/10|c.564C>T|p.Ser188Ser|1072/3712|564/1026|188/341||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|7/9|c.762C>T|p.Ser254Ser|971/3611|762/1224|254/407|| 22 38622871 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|6/9|c.532C>T|p.Leu178Leu|756/3626|532/1224|178/407||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|7/10|c.334C>T|p.Leu112Leu|842/3712|334/1026|112/341||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|6/9|c.532C>T|p.Leu178Leu|741/3611|532/1224|178/407|| 22 38622905 . TGGA T . . ANN=T|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|5/8|c.526-31_526-29delTCC||||||,T|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|6/9|c.328-31_328-29delTCC||||||,T|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|5/8|c.526-31_526-29delTCC|||||| 22 38626766 . A T . . ANN=T|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|4/8|c.450-16T>A||||||,T|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|5/9|c.252-16T>A||||||,T|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|4/8|c.450-16T>A|||||| 22 38627306 . A G . . ANN=G|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|4/9|c.393T>C|p.Tyr131Tyr|617/3626|393/1224|131/407||,G|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|5/10|c.195T>C|p.Tyr65Tyr|703/3712|195/1026|65/341||,G|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|4/9|c.393T>C|p.Tyr131Tyr|602/3611|393/1224|131/407|| 22 38627339 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|4/9|c.360C>T|p.Ala120Ala|584/3626|360/1224|120/407||,A|splice_region_variant&synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|5/10|c.162C>T|p.Ala54Ala|670/3712|162/1026|54/341||,A|splice_region_variant&synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|4/9|c.360C>T|p.Ala120Ala|569/3611|360/1224|120/407|| 22 38627348 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|3/8|c.359-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|4/9|c.161-8C>T||||||,A|splice_region_variant&intron_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|3/8|c.359-8C>T|||||| 22 38627384 . T A . . ANN=A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|3/8|c.359-44A>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|4/9|c.161-44A>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|3/8|c.359-44A>T|||||| 22 38641897 . C A . . ANN=A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|3/8|c.358+44G>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|4/9|c.160+44G>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|3/8|c.358+44G>T|||||| 22 38641898 . C A . . ANN=A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|3/8|c.358+43G>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|4/9|c.160+43G>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|3/8|c.358+43G>T|||||| 22 38641909 . G A . . ANN=A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|3/8|c.358+32C>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|4/9|c.160+32C>T||||||,A|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|3/8|c.358+32C>T|||||| 22 38641959 . C T . . ANN=T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|3/9|c.340G>A|p.Val114Ile|564/3626|340/1224|114/407||,T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|4/10|c.142G>A|p.Val48Ile|650/3712|142/1026|48/341||,T|missense_variant|MODERATE|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|3/9|c.340G>A|p.Val114Ile|549/3611|340/1224|114/407|| 22 38642038 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|3/9|c.261C>T|p.Ile87Ile|485/3626|261/1224|87/407||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|4/10|c.63C>T|p.Ile21Ile|571/3712|63/1026|21/341||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|3/9|c.261C>T|p.Ile87Ile|470/3611|261/1224|87/407|| 22 38642122 . T G . . ANN=G|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|2/8|c.193-16A>C||||||,G|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|3/9|c.-6-16A>C||||||,G|intron_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|2/8|c.193-16A>C|||||| 22 38643800 . C T . . ANN=T|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|2/9|c.168G>A|p.Thr56Thr|392/3626|168/1224|56/407||,T|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|2/9|c.168G>A|p.Thr56Thr|377/3611|168/1224|56/407||,T|5_prime_UTR_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|2/10|c.-132G>A|||||1700| 22 38643809 . G A . . ANN=A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|2/9|c.159C>T|p.Phe53Phe|383/3626|159/1224|53/407||,A|synonymous_variant|LOW|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|2/9|c.159C>T|p.Phe53Phe|368/3611|159/1224|53/407||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|2/10|c.-141C>T||||||,A|5_prime_UTR_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|2/10|c.-141C>T|||||1709| 22 38643992 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195071.1|Coding|2/9|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_001195072.1|Coding|2/10|c.-324A>G|||||1892|,C|5_prime_UTR_variant|MODIFIER|TMEM184B|TMEM184B|transcript|NM_012264.4|Coding|2/9|c.-25A>G|||||25| 22 38689279 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|14/15|c.*14T>C|||||14|,G|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|10/11|c.*14T>C|||||14|,G|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|10/11|c.*14T>C|||||14| 22 38689281 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|14/15|c.*12A>G|||||12|,C|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|10/11|c.*12A>G|||||12|,C|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|10/11|c.*12A>G|||||12| 22 38689284 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|14/15|c.*9C>T|||||9|,A|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|10/11|c.*9C>T|||||9|,A|3_prime_UTR_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|10/11|c.*9C>T|||||9| 22 38689321 . C T . . ANN=T|missense_variant|MODERATE|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|14/15|c.1223G>A|p.Ser408Asn|1689/2997|1223/1251|408/416||,T|missense_variant|MODERATE|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|10/11|c.1223G>A|p.Ser408Asn|1484/2792|1223/1251|408/416||,T|missense_variant|MODERATE|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|10/11|c.1223G>A|p.Ser408Asn|1334/2642|1223/1251|408/416|| 22 38689336 . TGGGGAGGGAGAGAG T . . ANN=T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|13/14|c.1219-25_1219-12delCTCTCTCCCTCCCC||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|9/10|c.1219-25_1219-12delCTCTCTCCCTCCCC||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|9/10|c.1219-25_1219-12delCTCTCTCCCTCCCC|||||| 22 38690076 . G A . . ANN=A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|13/14|c.1218+39C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|9/10|c.1218+39C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|9/10|c.1218+39C>T|||||| 22 38690262 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|12/14|c.1079-8C>A||||||,T|splice_region_variant&intron_variant|LOW|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|8/10|c.1079-8C>A||||||,T|splice_region_variant&intron_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|8/10|c.1079-8C>A|||||| 22 38690281 . CA C . . ANN=C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|12/14|c.1079-28delT||||||,C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|8/10|c.1079-28delT||||||,C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|8/10|c.1079-28delT|||||| 22 38690301 . C T . . ANN=T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|12/14|c.1078+47G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|8/10|c.1078+47G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|8/10|c.1078+47G>A|||||| 22 38694884 . G A . . ANN=A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|11/15|c.792C>T|p.Pro264Pro|1258/2997|792/1251|264/416||,A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|7/11|c.792C>T|p.Pro264Pro|1053/2792|792/1251|264/416||,A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|7/11|c.792C>T|p.Pro264Pro|903/2642|792/1251|264/416|| 22 38694909 . C T . . ANN=T|missense_variant|MODERATE|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|11/15|c.767G>A|p.Arg256His|1233/2997|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|7/11|c.767G>A|p.Arg256His|1028/2792|767/1251|256/416||,T|missense_variant|MODERATE|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|7/11|c.767G>A|p.Arg256His|878/2642|767/1251|256/416|| 22 38694966 . A G . . ANN=G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|10/14|c.737-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|6/10|c.737-27T>C||||||,G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|6/10|c.737-27T>C|||||| 22 38694972 . C T . . ANN=T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|10/14|c.737-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|6/10|c.737-33G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|6/10|c.737-33G>A|||||| 22 38694980 . C G . . ANN=G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|10/14|c.737-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|6/10|c.737-41G>C||||||,G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|6/10|c.737-41G>C|||||| 22 38695852 . A G . . ANN=G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|10/14|c.736+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|6/10|c.736+48T>C||||||,G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|6/10|c.736+48T>C|||||| 22 38695873 . C T . . ANN=T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|10/14|c.736+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|6/10|c.736+27G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|6/10|c.736+27G>A|||||| 22 38695931 . C T . . ANN=T|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|10/15|c.705G>A|p.Thr235Thr|1171/2997|705/1251|235/416||,T|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|6/11|c.705G>A|p.Thr235Thr|966/2792|705/1251|235/416||,T|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|6/11|c.705G>A|p.Thr235Thr|816/2642|705/1251|235/416|| 22 38696113 . T C . . ANN=C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|9/14|c.566-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|5/10|c.566-43A>G||||||,C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|5/10|c.566-43A>G|||||| 22 38696696 . G A . . ANN=A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|9/14|c.565+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|5/10|c.565+33C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|5/10|c.565+33C>T|||||| 22 38696874 . C T . . ANN=T|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|9/15|c.420G>A|p.Lys140Lys|886/2997|420/1251|140/416||,T|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|5/11|c.420G>A|p.Lys140Lys|681/2792|420/1251|140/416||,T|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|5/11|c.420G>A|p.Lys140Lys|531/2642|420/1251|140/416|| 22 38696901 . G A . . ANN=A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|9/15|c.393C>T|p.Pro131Pro|859/2997|393/1251|131/416||,A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|5/11|c.393C>T|p.Pro131Pro|654/2792|393/1251|131/416||,A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|5/11|c.393C>T|p.Pro131Pro|504/2642|393/1251|131/416|| 22 38696975 . C T . . ANN=T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|8/14|c.337-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|4/10|c.337-18G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|4/10|c.337-18G>A|||||| 22 38698820 . T C . . ANN=C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|8/14|c.336+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|4/10|c.336+46A>G||||||,C|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|4/10|c.336+46A>G|||||| 22 38698822 . G T . . ANN=T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|8/14|c.336+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|4/10|c.336+44C>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|4/10|c.336+44C>A|||||| 22 38698855 . C T . . ANN=T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|8/14|c.336+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|4/10|c.336+11G>A||||||,T|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|4/10|c.336+11G>A|||||| 22 38698856 . G A . . ANN=A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|8/14|c.336+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|4/10|c.336+10C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|4/10|c.336+10C>T|||||| 22 38699050 . GAGGC G . . ANN=G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|7/14|c.188-40_188-37delGCCT||||||,G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|3/10|c.188-40_188-37delGCCT||||||,G|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|3/10|c.188-40_188-37delGCCT|||||| 22 38699102 . G A . . ANN=A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|7/14|c.187+41C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|3/10|c.187+41C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|3/10|c.187+41C>T|||||| 22 38699120 . G A . . ANN=A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|7/14|c.187+23C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|3/10|c.187+23C>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|3/10|c.187+23C>T|||||| 22 38710074 . T A . . ANN=A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|6/14|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|2/10|c.76+13A>T||||||,A|intron_variant|MODIFIER|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|2/10|c.76+13A>T|||||| 22 38710112 . G A . . ANN=A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001289912.1|Coding|6/15|c.51C>T|p.Ser17Ser|517/2997|51/1251|17/416||,A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_152221.2|Coding|2/11|c.51C>T|p.Ser17Ser|312/2792|51/1251|17/416||,A|synonymous_variant|LOW|CSNK1E|CSNK1E|transcript|NM_001894.4|Coding|2/11|c.51C>T|p.Ser17Ser|162/2642|51/1251|17/416|| 22 38822894 . C T . . ANN=T|missense_variant|MODERATE|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.1244G>A|p.Arg415Gln|1341/1902|1244/1338|415/445||,T|missense_variant|MODERATE|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.1244G>A|p.Arg415Gln|1503/2064|1244/1338|415/445|| 22 38822905 . C T . . ANN=T|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.1233G>A|p.Ala411Ala|1330/1902|1233/1338|411/445||,T|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.1233G>A|p.Ala411Ala|1492/2064|1233/1338|411/445|| 22 38822923 . C T . . ANN=T|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.1215G>A|p.Ala405Ala|1312/1902|1215/1338|405/445||,T|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.1215G>A|p.Ala405Ala|1474/2064|1215/1338|405/445|| 22 38822953 . GGCC G . . ANN=G|disruptive_inframe_deletion|MODERATE|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.1182_1184delGGC|p.Ala395del|1281/1902|1182/1338|394/445||,G|disruptive_inframe_deletion|MODERATE|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.1182_1184delGGC|p.Ala395del|1443/2064|1182/1338|394/445|| 22 38822957 . G A . . ANN=A|missense_variant|MODERATE|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.1181C>T|p.Ala394Val|1278/1902|1181/1338|394/445||,A|missense_variant|MODERATE|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.1181C>T|p.Ala394Val|1440/2064|1181/1338|394/445|| 22 38823019 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.1119C>T|p.Tyr373Tyr|1216/1902|1119/1338|373/445||,A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.1119C>T|p.Tyr373Tyr|1378/2064|1119/1338|373/445|| 22 38823118 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.1020C>T|p.Tyr340Tyr|1117/1902|1020/1338|340/445||,A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.1020C>T|p.Tyr340Tyr|1279/2064|1020/1338|340/445|| 22 38823136 . T C . . ANN=C|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.1002A>G|p.Ser334Ser|1099/1902|1002/1338|334/445||,C|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.1002A>G|p.Ser334Ser|1261/2064|1002/1338|334/445|| 22 38823235 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.903C>T|p.Thr301Thr|1000/1902|903/1338|301/445||,A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.903C>T|p.Thr301Thr|1162/2064|903/1338|301/445|| 22 38823436 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.702C>T|p.Tyr234Tyr|799/1902|702/1338|234/445||,A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.702C>T|p.Tyr234Tyr|961/2064|702/1338|234/445|| 22 38823550 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.588C>T|p.Arg196Arg|685/1902|588/1338|196/445||,A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.588C>T|p.Arg196Arg|847/2064|588/1338|196/445|| 22 38823592 . C T . . ANN=T|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.546G>A|p.Ala182Ala|643/1902|546/1338|182/445||,T|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.546G>A|p.Ala182Ala|805/2064|546/1338|182/445|| 22 38823676 . C G . . ANN=G|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.462G>C|p.Val154Val|559/1902|462/1338|154/445||,G|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.462G>C|p.Val154Val|721/2064|462/1338|154/445|| 22 38823828 . C T . . ANN=T|missense_variant|MODERATE|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.310G>A|p.Gly104Ser|407/1902|310/1338|104/445||,T|missense_variant|MODERATE|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.310G>A|p.Gly104Ser|569/2064|310/1338|104/445|| 22 38823838 . C T . . ANN=T|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.300G>A|p.Ala100Ala|397/1902|300/1338|100/445||,T|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.300G>A|p.Ala100Ala|559/2064|300/1338|100/445|| 22 38823895 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.243C>T|p.Ala81Ala|340/1902|243/1338|81/445||,A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.243C>T|p.Ala81Ala|502/2064|243/1338|81/445|| 22 38823919 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.219C>T|p.Phe73Phe|316/1902|219/1338|73/445||,A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.219C>T|p.Phe73Phe|478/2064|219/1338|73/445|| 22 38823948 . C T . . ANN=T|missense_variant|MODERATE|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.190G>A|p.Ala64Thr|287/1902|190/1338|64/445||,T|missense_variant|MODERATE|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.190G>A|p.Ala64Thr|449/2064|190/1338|64/445|| 22 38824051 . G A . . ANN=A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_004981.1|Coding|2/2|c.87C>T|p.Asn29Asn|184/1902|87/1338|29/445||,A|synonymous_variant|LOW|KCNJ4|KCNJ4|transcript|NM_152868.2|Coding|2/2|c.87C>T|p.Asn29Asn|346/2064|87/1338|29/445|| 22 38864300 . G A . . ANN=A|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|1/4|c.62G>A|p.Gly21Glu|234/944|62/663|21/220||,A|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|1/5|c.62G>A|p.Gly21Glu|234/1728|62/645|21/214|| 22 38870580 . C G . . ANN=G|stop_gained|HIGH|KDELR3|KDELR3|transcript|NM_016657.2|Coding|2/4|c.144C>G|p.Tyr48*|316/944|144/663|48/220||,G|stop_gained|HIGH|KDELR3|KDELR3|transcript|NM_006855.3|Coding|2/5|c.144C>G|p.Tyr48*|316/1728|144/645|48/214||;LOF=(KDELR3|KDELR3|2|1.00);NMD=(KDELR3|KDELR3|2|1.00) 22 38875549 . C T . . ANN=T|intron_variant|MODIFIER|KDELR3|KDELR3|transcript|NM_016657.2|Coding|2/3|c.193-49C>T||||||,T|intron_variant|MODIFIER|KDELR3|KDELR3|transcript|NM_006855.3|Coding|2/4|c.193-49C>T|||||| 22 38875632 . A G . . ANN=G|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/4|c.227A>G|p.Tyr76Cys|399/944|227/663|76/220||,G|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/5|c.227A>G|p.Tyr76Cys|399/1728|227/645|76/214|| 22 38875653 . G T . . ANN=T|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/4|c.248G>T|p.Arg83Leu|420/944|248/663|83/220||,T|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/5|c.248G>T|p.Arg83Leu|420/1728|248/645|83/214|| 22 38875664 . G A . . ANN=A|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/4|c.259G>A|p.Asp87Asn|431/944|259/663|87/220||,A|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/5|c.259G>A|p.Asp87Asn|431/1728|259/645|87/214|| 22 38875729 . T C . . ANN=C|synonymous_variant|LOW|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/4|c.324T>C|p.Leu108Leu|496/944|324/663|108/220||,C|synonymous_variant|LOW|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/5|c.324T>C|p.Leu108Leu|496/1728|324/645|108/214|| 22 38875735 . C A . . ANN=A|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/4|c.330C>A|p.Asn110Lys|502/944|330/663|110/220||,A|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/5|c.330C>A|p.Asn110Lys|502/1728|330/645|110/214|| 22 38875736 . TAC T . . ANN=|frameshift_variant|HIGH|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/4|c.333_334delCA|p.Tyr111fs|505/944|333/663|111/220||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/5|c.333_334delCA|p.Tyr111fs|505/1728|333/645|111/214||INFO_REALIGN_3_PRIME;LOF=(KDELR3|KDELR3|2|1.00) 22 38875806 . C G . . ANN=G|intron_variant|MODIFIER|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/3|c.351+50C>G||||||,G|intron_variant|MODIFIER|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/4|c.351+50C>G|||||| 22 38877179 . G A . . ANN=A|intron_variant|MODIFIER|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/3|c.352-38G>A||||||,A|intron_variant|MODIFIER|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/4|c.352-38G>A|||||| 22 38877184 . G T . . ANN=T|intron_variant|MODIFIER|KDELR3|KDELR3|transcript|NM_016657.2|Coding|3/3|c.352-33G>T||||||,T|intron_variant|MODIFIER|KDELR3|KDELR3|transcript|NM_006855.3|Coding|3/4|c.352-33G>T|||||| 22 38877231 . C A . . ANN=A|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|4/4|c.366C>A|p.Phe122Leu|538/944|366/663|122/220||,A|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|4/5|c.366C>A|p.Phe122Leu|538/1728|366/645|122/214|| 22 38877251 . T G . . ANN=G|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|4/4|c.386T>G|p.Val129Gly|558/944|386/663|129/220||,G|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|4/5|c.386T>G|p.Val129Gly|558/1728|386/645|129/214|| 22 38877304 . A G . . ANN=G|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|4/4|c.439A>G|p.Ile147Val|611/944|439/663|147/220||,G|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|4/5|c.439A>G|p.Ile147Val|611/1728|439/645|147/214|| 22 38877461 . T G . . ANN=G|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_016657.2|Coding|4/4|c.596T>G|p.Val199Gly|768/944|596/663|199/220||,G|missense_variant|MODERATE|KDELR3|KDELR3|transcript|NM_006855.3|Coding|4/5|c.596T>G|p.Val199Gly|768/1728|596/645|199/214|| 22 38881951 . A G . . ANN=G|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_001098504.1|Coding|13/13|c.2185T>C|p.Ser729Pro|2288/4796|2185/2196|729/731||,G|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_006386.4|Coding|13/13|c.2179T>C|p.Ser727Pro|2282/4790|2179/2190|727/729|| 22 38881979 . G A . . ANN=A|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_001098504.1|Coding|13/13|c.2157C>T|p.Tyr719Tyr|2260/4796|2157/2196|719/731||,A|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_006386.4|Coding|13/13|c.2151C>T|p.Tyr717Tyr|2254/4790|2151/2190|717/729|| 22 38882027 . C T . . ANN=T|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_001098504.1|Coding|13/13|c.2109G>A|p.Pro703Pro|2212/4796|2109/2196|703/731||,T|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_006386.4|Coding|13/13|c.2103G>A|p.Pro701Pro|2206/4790|2103/2190|701/729|| 22 38882187 . C G . . ANN=G|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_001098504.1|Coding|13/13|c.1949G>C|p.Ser650Thr|2052/4796|1949/2196|650/731||,G|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_006386.4|Coding|13/13|c.1943G>C|p.Ser648Thr|2046/4790|1943/2190|648/729|| 22 38882277 . C T . . ANN=T|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_001098504.1|Coding|13/13|c.1859G>A|p.Gly620Asp|1962/4796|1859/2196|620/731||,T|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_006386.4|Coding|13/13|c.1853G>A|p.Gly618Asp|1956/4790|1853/2190|618/729|| 22 38882330 . T C . . ANN=C|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_001098504.1|Coding|13/13|c.1806A>G|p.Ala602Ala|1909/4796|1806/2196|602/731||,C|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_006386.4|Coding|13/13|c.1800A>G|p.Ala600Ala|1903/4790|1800/2190|600/729|| 22 38883834 . G A . . ANN=A|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|12/12|c.1690+44C>T||||||,A|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|12/12|c.1684+50C>T|||||| 22 38883854 . T C . . ANN=C|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|12/12|c.1690+24A>G||||||,C|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|12/12|c.1684+30A>G|||||| 22 38883900 . T G . . ANN=G|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_001098504.1|Coding|12/13|c.1668A>C|p.Gly556Gly|1771/4796|1668/2196|556/731||,G|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_006386.4|Coding|12/13|c.1668A>C|p.Gly556Gly|1771/4790|1668/2190|556/729|| 22 38884017 . G T . . ANN=T|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_001098504.1|Coding|12/13|c.1551C>A|p.Thr517Thr|1654/4796|1551/2196|517/731||,T|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_006386.4|Coding|12/13|c.1551C>A|p.Thr517Thr|1654/4790|1551/2190|517/729|| 22 38888027 . T C . . ANN=C|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|11/12|c.1447+34A>G||||||,C|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|11/12|c.1447+34A>G|||||| 22 38888154 . G A . . ANN=A|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|10/12|c.1388-34C>T||||||,A|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|10/12|c.1388-34C>T|||||| 22 38888166 . A G . . ANN=G|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|10/12|c.1388-46T>C||||||,G|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|10/12|c.1388-46T>C|||||| 22 38889672 . A AG . . ANN=AG|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|10/12|c.1387+42_1387+43insC||||||,AG|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|10/12|c.1387+42_1387+43insC|||||| 22 38890175 . GTTA G . . ANN=G|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|8/12|c.1215-42_1215-40delTAA||||||,G|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|8/12|c.1215-42_1215-40delTAA|||||| 22 38891022 . G A . . ANN=A|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_001098504.1|Coding|7/13|c.910C>T|p.Arg304Cys|1013/4796|910/2196|304/731||,A|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_006386.4|Coding|7/13|c.910C>T|p.Arg304Cys|1013/4790|910/2190|304/729|| 22 38891038 . G A . . ANN=A|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_001098504.1|Coding|7/13|c.894C>T|p.Cys298Cys|997/4796|894/2196|298/731||,A|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_006386.4|Coding|7/13|c.894C>T|p.Cys298Cys|997/4790|894/2190|298/729|| 22 38891767 . AAACT A . . ANN=A|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|6/12|c.880+30_880+33delAGTT||||||,A|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|6/12|c.880+30_880+33delAGTT|||||| 22 38891981 . G GT . . ANN=GT|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|5/12|c.739-40_739-39insA||||||,GT|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|5/12|c.739-40_739-39insA|||||| 22 38894182 . C T . . ANN=T|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|4/12|c.673-27G>A||||||,T|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|4/12|c.673-27G>A|||||| 22 38894186 . C T . . ANN=T|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|4/12|c.673-31G>A||||||,T|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|4/12|c.673-31G>A|||||| 22 38895386 . T C . . ANN=C|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|3/12|c.538+19A>G||||||,C|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|3/12|c.538+19A>G|||||| 22 38895460 . C T . . ANN=T|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_001098504.1|Coding|3/13|c.483G>A|p.Arg161Arg|586/4796|483/2196|161/731||,T|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_006386.4|Coding|3/13|c.483G>A|p.Arg161Arg|586/4790|483/2190|161/729|| 22 38895521 . AAAG A . . ANN=A|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|2/12|c.439-20_439-18delCTT||||||,A|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|2/12|c.439-20_439-18delCTT|||||| 22 38897156 . C T . . ANN=T|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_001098504.1|Coding|2/13|c.417G>A|p.Pro139Pro|520/4796|417/2196|139/731||,T|synonymous_variant|LOW|DDX17|DDX17|transcript|NM_006386.4|Coding|2/13|c.417G>A|p.Pro139Pro|520/4790|417/2190|139/729|| 22 38897319 . T C . . ANN=C|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_001098504.1|Coding|1/12|c.288-34A>G||||||,C|intron_variant|MODIFIER|DDX17|DDX17|transcript|NM_006386.4|Coding|1/12|c.288-34A>G|||||| 22 38902052 . C G . . ANN=G|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_001098504.1|Coding|1/13|c.191G>C|p.Ser64Thr|294/4796|191/2196|64/731||,G|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_006386.4|Coding|1/13|c.191G>C|p.Ser64Thr|294/4790|191/2190|64/729|| 22 38902067 . G A . . ANN=A|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_001098504.1|Coding|1/13|c.176C>T|p.Pro59Leu|279/4796|176/2196|59/731||,A|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_006386.4|Coding|1/13|c.176C>T|p.Pro59Leu|279/4790|176/2190|59/729|| 22 38902217 . A G . . ANN=G|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_001098504.1|Coding|1/13|c.26T>C|p.Ile9Thr|129/4796|26/2196|9/731||,G|missense_variant|MODERATE|DDX17|DDX17|transcript|NM_006386.4|Coding|1/13|c.26T>C|p.Ile9Thr|129/4790|26/2190|9/729|| 22 38915986 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|14/14|c.*39G>A|||||39|,T|3_prime_UTR_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|11/11|c.*39G>A|||||39| 22 38916076 . A G . . ANN=G|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_007068.3|Coding|14/14|c.972T>C|p.Asn324Asn|1159/2281|972/1023|324/340||,G|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_001278208.1|Coding|11/11|c.807T>C|p.Asn269Asn|960/2082|807/858|269/285|| 22 38916130 . G A . . ANN=A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|13/13|c.954-36C>T||||||,A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|10/10|c.789-36C>T|||||| 22 38917703 . A G . . ANN=G|missense_variant|MODERATE|DMC1|DMC1|transcript|NM_007068.3|Coding|13/14|c.863T>C|p.Ile288Thr|1050/2281|863/1023|288/340||,G|missense_variant|MODERATE|DMC1|DMC1|transcript|NM_001278208.1|Coding|10/11|c.698T>C|p.Ile233Thr|851/2082|698/858|233/285|| 22 38934299 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|DMC1|DMC1|transcript|NM_007068.3|Coding|11/13|c.775+1G>A||||||,T|splice_donor_variant&intron_variant|HIGH|DMC1|DMC1|transcript|NM_001278208.1|Coding|8/10|c.610+1G>A||||||;LOF=(DMC1|DMC1|3|0.67) 22 38934334 . G T . . ANN=T|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_007068.3|Coding|11/14|c.741C>A|p.Ala247Ala|928/2281|741/1023|247/340||,T|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_001278208.1|Coding|8/11|c.576C>A|p.Ala192Ala|729/2082|576/858|192/285|| 22 38934409 . G A . . ANN=A|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_007068.3|Coding|11/14|c.666C>T|p.Ile222Ile|853/2281|666/1023|222/340||,A|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_001278208.1|Coding|8/11|c.501C>T|p.Ile167Ile|654/2082|501/858|167/285|| 22 38934461 . G A . . ANN=A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|10/13|c.661-47C>T||||||,A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|7/10|c.496-47C>T|||||| 22 38934497 . ATAT A . . ANN=A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|10/13|c.660+44_660+46delATA||||||,A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|7/10|c.495+44_495+46delATA|||||| 22 38934499 . A G . . ANN=G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|10/13|c.660+45T>C||||||,G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|7/10|c.495+45T>C|||||| 22 38934515 . C G . . ANN=G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|10/13|c.660+29G>C||||||,G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|7/10|c.495+29G>C|||||| 22 38934606 . T C . . ANN=C|missense_variant|MODERATE|DMC1|DMC1|transcript|NM_007068.3|Coding|10/14|c.598A>G|p.Met200Val|785/2281|598/1023|200/340||,C|missense_variant|MODERATE|DMC1|DMC1|transcript|NM_001278208.1|Coding|7/11|c.433A>G|p.Met145Val|586/2082|433/858|145/285|| 22 38935297 . C T . . ANN=T|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|9/13|c.586+29G>A||||||,T|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|6/10|c.422-680G>A|||||| 22 38935313 . A G . . ANN=G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|9/13|c.586+13T>C||||||,G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|6/10|c.422-696T>C|||||| 22 38935406 . C T . . ANN=T|missense_variant|MODERATE|DMC1|DMC1|transcript|NM_007068.3|Coding|9/14|c.506G>A|p.Arg169His|693/2281|506/1023|169/340||,T|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|6/10|c.422-789G>A|||||| 22 38935427 . GCC G . . ANN=G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|8/13|c.495-12_495-11delGG||||||,G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|6/10|c.422-812_422-811delGG|||||| 22 38945896 . C G . . ANN=G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|8/13|c.494+34G>C||||||,G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|6/10|c.421+2775G>C|||||| 22 38945898 . A G . . ANN=G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|8/13|c.494+32T>C||||||,G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|6/10|c.421+2773T>C|||||| 22 38945975 . C T . . ANN=T|missense_variant|MODERATE|DMC1|DMC1|transcript|NM_007068.3|Coding|8/14|c.449G>A|p.Gly150Asp|636/2281|449/1023|150/340||,T|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|6/10|c.421+2696G>A|||||| 22 38948761 . ATT A . . ANN=A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|6/13|c.380-51_380-50delAA||||||,A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|5/10|c.380-51_380-50delAA|||||| 22 38951313 . G A . . ANN=A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|6/13|c.379+49C>T||||||,A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|5/10|c.379+49C>T|||||| 22 38958260 . G A . . ANN=A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|5/13|c.326+32C>T||||||,A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|4/10|c.326+32C>T|||||| 22 38962551 . A C . . ANN=C|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|4/13|c.243+44T>G||||||,C|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|3/10|c.243+44T>G|||||| 22 38962628 . T C . . ANN=C|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_007068.3|Coding|4/14|c.210A>G|p.Val70Val|397/2281|210/1023|70/340||,C|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_001278208.1|Coding|3/11|c.210A>G|p.Val70Val|363/2082|210/858|70/285|| 22 38962767 . A G . . ANN=G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|3/13|c.97-26T>C||||||,G|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|2/10|c.97-26T>C|||||| 22 38963603 . T C . . ANN=C|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_007068.3|Coding|3/14|c.81A>G|p.Leu27Leu|268/2281|81/1023|27/340||,C|synonymous_variant|LOW|DMC1|DMC1|transcript|NM_001278208.1|Coding|2/11|c.81A>G|p.Leu27Leu|234/2082|81/858|27/285|| 22 38964167 . G A . . ANN=A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|2/13|c.51+44C>T||||||,A|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|1/10|c.51+44C>T|||||| 22 38964181 . T C . . ANN=C|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_007068.3|Coding|2/13|c.51+30A>G||||||,C|intron_variant|MODIFIER|DMC1|DMC1|transcript|NM_001278208.1|Coding|1/10|c.51+30A>G|||||| 22 39066851 . G A . . ANN=A|intron_variant|MODIFIER|CBY1|CBY1|transcript|NM_001002880.1|Coding|3/5|c.208-38G>A||||||,A|intron_variant|MODIFIER|CBY1|CBY1|transcript|NM_015373.3|Coding|2/4|c.79-38G>A|||||| 22 39066862 . A C . . ANN=C|intron_variant|MODIFIER|CBY1|CBY1|transcript|NM_001002880.1|Coding|3/5|c.208-27A>C||||||,C|intron_variant|MODIFIER|CBY1|CBY1|transcript|NM_015373.3|Coding|2/4|c.79-27A>C|||||| 22 39066934 . T G . . ANN=G|missense_variant|MODERATE|CBY1|CBY1|transcript|NM_001002880.1|Coding|4/6|c.253T>G|p.Ser85Ala|400/1271|253/510|85/169||,G|missense_variant|MODERATE|CBY1|CBY1|transcript|NM_015373.3|Coding|3/5|c.124T>G|p.Ser42Ala|260/1131|124/381|42/126|| 22 39067078 . CAG C . . ANN=C|frameshift_variant|HIGH|CBY1|CBY1|transcript|NM_001002880.1|Coding|5/6|c.318_319delAG|p.Thr106fs|465/1271|318/510|106/169||,C|frameshift_variant|HIGH|CBY1|CBY1|transcript|NM_015373.3|Coding|4/5|c.189_190delAG|p.Thr63fs|325/1131|189/381|63/126||;LOF=(CBY1|CBY1|2|1.00) 22 39067083 . G A . . ANN=A|missense_variant|MODERATE|CBY1|CBY1|transcript|NM_001002880.1|Coding|5/6|c.322G>A|p.Val108Ile|469/1271|322/510|108/169||,A|missense_variant|MODERATE|CBY1|CBY1|transcript|NM_015373.3|Coding|4/5|c.193G>A|p.Val65Ile|329/1131|193/381|65/126|| 22 39067128 . C T . . ANN=T|missense_variant|MODERATE|CBY1|CBY1|transcript|NM_001002880.1|Coding|5/6|c.367C>T|p.Arg123Trp|514/1271|367/510|123/169||,T|missense_variant|MODERATE|CBY1|CBY1|transcript|NM_015373.3|Coding|4/5|c.238C>T|p.Arg80Trp|374/1131|238/381|80/126|| 22 39067130 . G A . . ANN=A|synonymous_variant|LOW|CBY1|CBY1|transcript|NM_001002880.1|Coding|5/6|c.369G>A|p.Arg123Arg|516/1271|369/510|123/169||,A|synonymous_variant|LOW|CBY1|CBY1|transcript|NM_015373.3|Coding|4/5|c.240G>A|p.Arg80Arg|376/1131|240/381|80/126|| 22 39067223 . AG A . . ANN=A|intron_variant|MODIFIER|CBY1|CBY1|transcript|NM_001002880.1|Coding|5/5|c.432+31delG||||||,A|intron_variant|MODIFIER|CBY1|CBY1|transcript|NM_015373.3|Coding|4/4|c.303+31delG|||||| 22 39069181 . T C . . ANN=C|synonymous_variant|LOW|CBY1|CBY1|transcript|NM_001002880.1|Coding|6/6|c.450T>C|p.Ala150Ala|597/1271|450/510|150/169||,C|synonymous_variant|LOW|CBY1|CBY1|transcript|NM_015373.3|Coding|5/5|c.321T>C|p.Ala107Ala|457/1131|321/381|107/126|| 22 39077967 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TOMM22|TOMM22|transcript|NM_020243.4|Coding|1/4|c.-17C>T||||||,T|5_prime_UTR_variant|MODIFIER|TOMM22|TOMM22|transcript|NM_020243.4|Coding|1/4|c.-17C>T|||||17| 22 39078022 . C T . . ANN=T|synonymous_variant|LOW|TOMM22|TOMM22|transcript|NM_020243.4|Coding|1/4|c.39C>T|p.Pro13Pro|69/1379|39/429|13/142|| 22 39078330 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|TOMM22|TOMM22|transcript|NM_020243.4|Coding|2/4|c.120A>G|p.Leu40Leu|150/1379|120/429|40/142|| 22 39078421 . C T . . ANN=T|missense_variant|MODERATE|TOMM22|TOMM22|transcript|NM_020243.4|Coding|2/4|c.211C>T|p.Leu71Phe|241/1379|211/429|71/142|| 22 39078948 . T G . . ANN=G|missense_variant|MODERATE|TOMM22|TOMM22|transcript|NM_020243.4|Coding|3/4|c.301T>G|p.Phe101Val|331/1379|301/429|101/142|| 22 39079018 . G A . . ANN=A|intron_variant|MODIFIER|TOMM22|TOMM22|transcript|NM_020243.4|Coding|3/3|c.354+17G>A|||||| 22 39084930 . T G . . ANN=G|intron_variant|MODIFIER|JOSD1|JOSD1|transcript|NM_014876.5|Coding|3/3|c.509+10A>C|||||| 22 39084951 . C G . . ANN=G|missense_variant|MODERATE|JOSD1|JOSD1|transcript|NM_014876.5|Coding|3/4|c.498G>C|p.Glu166Asp|965/3435|498/609|166/202|| 22 39085170 . C G . . ANN=G|intron_variant|MODIFIER|JOSD1|JOSD1|transcript|NM_014876.5|Coding|2/3|c.315-36G>C|||||| 22 39085262 . C T . . ANN=T|intron_variant|MODIFIER|JOSD1|JOSD1|transcript|NM_014876.5|Coding|2/3|c.314+39G>A|||||| 22 39085276 . T C . . ANN=C|intron_variant|MODIFIER|JOSD1|JOSD1|transcript|NM_014876.5|Coding|2/3|c.314+25A>G|||||| 22 39085285 . G A . . ANN=A|intron_variant|MODIFIER|JOSD1|JOSD1|transcript|NM_014876.5|Coding|2/3|c.314+16C>T|||||| 22 39085434 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|JOSD1|JOSD1|transcript|NM_014876.5|Coding|1/3|c.186-5G>T|||||| 22 39095769 . A T . . ANN=T|intron_variant|MODIFIER|JOSD1|JOSD1|transcript|NM_014876.5|Coding|1/3|c.185+39T>A|||||| 22 39095776 . G C . . ANN=C|intron_variant|MODIFIER|JOSD1|JOSD1|transcript|NM_014876.5|Coding|1/3|c.185+32C>G|||||| 22 39095780 . C G . . ANN=G|intron_variant|MODIFIER|JOSD1|JOSD1|transcript|NM_014876.5|Coding|1/3|c.185+28G>C|||||| 22 39095849 . G C . . ANN=C|missense_variant|MODERATE|JOSD1|JOSD1|transcript|NM_014876.5|Coding|1/4|c.144C>G|p.Ser48Arg|611/3435|144/609|48/202|| 22 39095873 . G A . . ANN=A|synonymous_variant|LOW|JOSD1|JOSD1|transcript|NM_014876.5|Coding|1/4|c.120C>T|p.Ala40Ala|587/3435|120/609|40/202|| 22 39095882 . G C . . ANN=C|synonymous_variant|LOW|JOSD1|JOSD1|transcript|NM_014876.5|Coding|1/4|c.111C>G|p.Ala37Ala|578/3435|111/609|37/202|| 22 39095987 . A G . . ANN=G|synonymous_variant|LOW|JOSD1|JOSD1|transcript|NM_014876.5|Coding|1/4|c.6T>C|p.Ser2Ser|473/3435|6/609|2/202|| 22 39104807 . C T . . ANN=T|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|1/11|c.193-43C>T|||||| 22 39104896 . G C . . ANN=C|missense_variant|MODERATE|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|2/12|c.239G>C|p.Arg80Pro|393/5047|239/2010|80/669|| 22 39112062 . G A . . ANN=A|missense_variant|MODERATE|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|3/12|c.455G>A|p.Arg152Gln|609/5047|455/2010|152/669|| 22 39112138 . G T . . ANN=T|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|3/11|c.485+46G>T|||||| 22 39112834 . A T . . ANN=T|missense_variant|MODERATE|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|4/12|c.663A>T|p.Glu221Asp|817/5047|663/2010|221/669|| 22 39112921 . C T . . ANN=T|synonymous_variant|LOW|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|4/12|c.750C>T|p.Phe250Phe|904/5047|750/2010|250/669|| 22 39112996 . C T . . ANN=T|synonymous_variant|LOW|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|4/12|c.825C>T|p.Cys275Cys|979/5047|825/2010|275/669|| 22 39113021 . C T . . ANN=T|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|4/11|c.834+16C>T|||||| 22 39113030 . G A . . ANN=A|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|4/11|c.834+25G>A|||||| 22 39117881 . C T . . ANN=T|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|5/11|c.958+11C>T|||||| 22 39120291 . C T . . ANN=T|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|5/11|c.959-11C>T|||||| 22 39122038 . C T . . ANN=T|synonymous_variant|LOW|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|7/12|c.1101C>T|p.Asn367Asn|1255/5047|1101/2010|367/669|| 22 39122197 . A G . . ANN=G|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|7/11|c.1218+42A>G|||||| 22 39123391 . G A . . ANN=A|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|9/11|c.1537+38G>A|||||| 22 39124185 . T C . . ANN=C|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|10/11|c.1716+19T>C|||||| 22 39124191 . G A . . ANN=A|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|10/11|c.1716+25G>A|||||| 22 39125428 . C T . . ANN=T|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|10/11|c.1717-39C>T|||||| 22 39125529 . G A . . ANN=A|synonymous_variant|LOW|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|11/12|c.1779G>A|p.Ser593Ser|1933/5047|1779/2010|593/669|| 22 39125549 . C T . . ANN=T|missense_variant|MODERATE|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|11/12|c.1799C>T|p.Thr600Met|1953/5047|1799/2010|600/669|| 22 39125559 . C T . . ANN=T|synonymous_variant|LOW|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|11/12|c.1809C>T|p.Asp603Asp|1963/5047|1809/2010|603/669|| 22 39125573 . C T . . ANN=T|missense_variant|MODERATE|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|11/12|c.1823C>T|p.Ser608Phe|1977/5047|1823/2010|608/669|| 22 39125692 . C T . . ANN=T|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|11/11|c.1917+25C>T|||||| 22 39125693 . G A . . ANN=A|intron_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|11/11|c.1917+26G>A|||||| 22 39126748 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|GTPBP1|GTPBP1|transcript|NM_004286.4|Coding|12/12|c.*39C>G|||||39| 22 39132280 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|18/18|c.2209G>A|p.Ala737Thr|2503/4064|2209/2217|737/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|19/19|c.2146G>A|p.Ala716Thr|2439/4000|2146/2154|716/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|18/18|c.2146G>A|p.Ala716Thr|2440/4001|2146/2154|716/717|| 22 39132281 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|18/18|c.2208C>T|p.Pro736Pro|2502/4064|2208/2217|736/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|19/19|c.2145C>T|p.Pro715Pro|2438/4000|2145/2154|715/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|18/18|c.2145C>T|p.Pro715Pro|2439/4001|2145/2154|715/717|| 22 39132369 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|18/18|c.2120C>T|p.Thr707Met|2414/4064|2120/2217|707/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|19/19|c.2057C>T|p.Thr686Met|2350/4000|2057/2154|686/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|18/18|c.2057C>T|p.Thr686Met|2351/4001|2057/2154|686/717|| 22 39132412 . G T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|17/17|c.2104-27C>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|18/18|c.2041-27C>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|17/17|c.2041-27C>A|||||| 22 39134207 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|17/18|c.2074G>A|p.Gly692Ser|2368/4064|2074/2217|692/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|18/19|c.2011G>A|p.Gly671Ser|2304/4000|2011/2154|671/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|17/18|c.2011G>A|p.Gly671Ser|2305/4001|2011/2154|671/717|| 22 39134217 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|17/18|c.2064C>T|p.Tyr688Tyr|2358/4064|2064/2217|688/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|18/19|c.2001C>T|p.Tyr667Tyr|2294/4000|2001/2154|667/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|17/18|c.2001C>T|p.Tyr667Tyr|2295/4001|2001/2154|667/717|| 22 39134262 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|17/18|c.2019C>T|p.Asp673Asp|2313/4064|2019/2217|673/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|18/19|c.1956C>T|p.Asp652Asp|2249/4000|1956/2154|652/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|17/18|c.1956C>T|p.Asp652Asp|2250/4001|1956/2154|652/717|| 22 39134279 . A G . . ANN=G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|16/17|c.2011-9T>C||||||,G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|17/18|c.1948-9T>C||||||,G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|16/17|c.1948-9T>C|||||| 22 39134320 . C A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|16/17|c.2011-50G>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|17/18|c.1948-50G>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|16/17|c.1948-50G>T|||||| 22 39134551 . C T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|16/17|c.2010+41G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|17/18|c.1947+41G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|16/17|c.1947+41G>A|||||| 22 39134558 . G T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|16/17|c.2010+34C>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|17/18|c.1947+34C>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|16/17|c.1947+34C>A|||||| 22 39134699 . G T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|16/18|c.1903C>A|p.Arg635Ser|2197/4064|1903/2217|635/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|17/19|c.1840C>A|p.Arg614Ser|2133/4000|1840/2154|614/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|16/18|c.1840C>A|p.Arg614Ser|2134/4001|1840/2154|614/717|| 22 39134715 . T C . . ANN=C|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|16/18|c.1887A>G|p.Gln629Gln|2181/4064|1887/2217|629/738||,C|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|17/19|c.1824A>G|p.Gln608Gln|2117/4000|1824/2154|608/717||,C|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|16/18|c.1824A>G|p.Gln608Gln|2118/4001|1824/2154|608/717|| 22 39134956 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|15/18|c.1764C>T|p.Tyr588Tyr|2058/4064|1764/2217|588/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|16/19|c.1701C>T|p.Tyr567Tyr|1994/4000|1701/2154|567/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|15/18|c.1701C>T|p.Tyr567Tyr|1995/4001|1701/2154|567/717|| 22 39135019 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|14/17|c.1727-26C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|15/18|c.1664-26C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|14/17|c.1664-26C>T|||||| 22 39135307 . G C . . ANN=C|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|14/17|c.1726+40C>G||||||,C|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|15/18|c.1663+40C>G||||||,C|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|14/17|c.1663+40C>G|||||| 22 39135363 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|14/18|c.1710C>T|p.Tyr570Tyr|2004/4064|1710/2217|570/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|15/19|c.1647C>T|p.Tyr549Tyr|1940/4000|1647/2154|549/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|14/18|c.1647C>T|p.Tyr549Tyr|1941/4001|1647/2154|549/717|| 22 39135454 . C T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|13/17|c.1642-23G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|14/18|c.1579-23G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|13/17|c.1579-23G>A|||||| 22 39135699 . T C . . ANN=C|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|13/17|c.1641+28A>G||||||,C|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|14/18|c.1578+28A>G||||||,C|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|13/17|c.1578+28A>G|||||| 22 39135783 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|13/18|c.1585G>A|p.Ala529Thr|1879/4064|1585/2217|529/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|14/19|c.1522G>A|p.Ala508Thr|1815/4000|1522/2154|508/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|13/18|c.1522G>A|p.Ala508Thr|1816/4001|1522/2154|508/717|| 22 39135888 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|13/18|c.1480G>A|p.Val494Met|1774/4064|1480/2217|494/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|14/19|c.1417G>A|p.Val473Met|1710/4000|1417/2154|473/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|13/18|c.1417G>A|p.Val473Met|1711/4001|1417/2154|473/717|| 22 39135933 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|13/18|c.1435C>T|p.Pro479Ser|1729/4064|1435/2217|479/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|14/19|c.1372C>T|p.Pro458Ser|1665/4000|1372/2154|458/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|13/18|c.1372C>T|p.Pro458Ser|1666/4001|1372/2154|458/717|| 22 39136272 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|12/18|c.1419C>T|p.Asp473Asp|1713/4064|1419/2217|473/738||,A|splice_region_variant&synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|13/19|c.1356C>T|p.Asp452Asp|1649/4000|1356/2154|452/717||,A|splice_region_variant&synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|12/18|c.1356C>T|p.Asp452Asp|1650/4001|1356/2154|452/717|| 22 39136274 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|12/18|c.1417G>A|p.Asp473Asn|1711/4064|1417/2217|473/738||,T|missense_variant&splice_region_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|13/19|c.1354G>A|p.Asp452Asn|1647/4000|1354/2154|452/717||,T|missense_variant&splice_region_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|12/18|c.1354G>A|p.Asp452Asn|1648/4001|1354/2154|452/717|| 22 39136283 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|12/18|c.1408G>A|p.Val470Met|1702/4064|1408/2217|470/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|13/19|c.1345G>A|p.Val449Met|1638/4000|1345/2154|449/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|12/18|c.1345G>A|p.Val449Met|1639/4001|1345/2154|449/717|| 22 39136423 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|12/18|c.1268C>T|p.Ser423Phe|1562/4064|1268/2217|423/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|13/19|c.1205C>T|p.Ser402Phe|1498/4000|1205/2154|402/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|12/18|c.1205C>T|p.Ser402Phe|1499/4001|1205/2154|402/717|| 22 39137043 . G T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|11/18|c.1222C>A|p.Arg408Ser|1516/4064|1222/2217|408/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|12/19|c.1159C>A|p.Arg387Ser|1452/4000|1159/2154|387/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|11/18|c.1159C>A|p.Arg387Ser|1453/4001|1159/2154|387/717|| 22 39137076 . A G . . ANN=G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|10/17|c.1210-21T>C||||||,G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|11/18|c.1147-21T>C||||||,G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|10/17|c.1147-21T>C|||||| 22 39137478 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|10/17|c.1209+21C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|11/18|c.1146+21C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|10/17|c.1146+21C>T|||||| 22 39137484 . C T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|10/17|c.1209+15G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|11/18|c.1146+15G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|10/17|c.1146+15G>A|||||| 22 39137513 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|10/18|c.1195G>A|p.Val399Ile|1489/4064|1195/2217|399/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|11/19|c.1132G>A|p.Val378Ile|1425/4000|1132/2154|378/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|10/18|c.1132G>A|p.Val378Ile|1426/4001|1132/2154|378/717|| 22 39137617 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|9/17|c.1132-41C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|10/18|c.1069-41C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|9/17|c.1069-41C>T|||||| 22 39138331 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|9/18|c.1106G>A|p.Arg369His|1400/4064|1106/2217|369/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|10/19|c.1043G>A|p.Arg348His|1336/4000|1043/2154|348/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|9/18|c.1043G>A|p.Arg348His|1337/4001|1043/2154|348/717|| 22 39138332 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|9/18|c.1105C>T|p.Arg369Cys|1399/4064|1105/2217|369/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|10/19|c.1042C>T|p.Arg348Cys|1335/4000|1042/2154|348/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|9/18|c.1042C>T|p.Arg348Cys|1336/4001|1042/2154|348/717|| 22 39138376 . T C . . ANN=C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|9/18|c.1061A>G|p.Glu354Gly|1355/4064|1061/2217|354/738||,C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|10/19|c.998A>G|p.Glu333Gly|1291/4000|998/2154|333/717||,C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|9/18|c.998A>G|p.Glu333Gly|1292/4001|998/2154|333/717|| 22 39138389 . G T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|9/18|c.1048C>A|p.Leu350Met|1342/4064|1048/2217|350/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|10/19|c.985C>A|p.Leu329Met|1278/4000|985/2154|329/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|9/18|c.985C>A|p.Leu329Met|1279/4001|985/2154|329/717|| 22 39138399 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|9/18|c.1038C>T|p.His346His|1332/4064|1038/2217|346/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|10/19|c.975C>T|p.His325His|1268/4000|975/2154|325/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|9/18|c.975C>T|p.His325His|1269/4001|975/2154|325/717|| 22 39141641 . A G . . ANN=G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|8/17|c.876+48T>C||||||,G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|9/18|c.813+48T>C||||||,G|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|8/17|c.813+48T>C|||||| 22 39141668 . C T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|8/17|c.876+21G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|9/18|c.813+21G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|8/17|c.813+21G>A|||||| 22 39141702 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|8/18|c.863C>T|p.Ser288Leu|1157/4064|863/2217|288/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|9/19|c.800C>T|p.Ser267Leu|1093/4000|800/2154|267/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|8/18|c.800C>T|p.Ser267Leu|1094/4001|800/2154|267/717|| 22 39141729 . T C . . ANN=C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|8/18|c.836A>G|p.Asp279Gly|1130/4064|836/2217|279/738||,C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|9/19|c.773A>G|p.Asp258Gly|1066/4000|773/2154|258/717||,C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|8/18|c.773A>G|p.Asp258Gly|1067/4001|773/2154|258/717|| 22 39141766 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|8/18|c.799G>A|p.Val267Ile|1093/4064|799/2217|267/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|9/19|c.736G>A|p.Val246Ile|1029/4000|736/2154|246/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|8/18|c.736G>A|p.Val246Ile|1030/4001|736/2154|246/717|| 22 39141778 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|8/18|c.787C>T|p.His263Tyr|1081/4064|787/2217|263/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|9/19|c.724C>T|p.His242Tyr|1017/4000|724/2154|242/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|8/18|c.724C>T|p.His242Tyr|1018/4001|724/2154|242/717|| 22 39144747 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|7/18|c.719C>T|p.Pro240Leu|1013/4064|719/2217|240/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|8/19|c.656C>T|p.Pro219Leu|949/4000|656/2154|219/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|7/18|c.656C>T|p.Pro219Leu|950/4001|656/2154|219/717|| 22 39144768 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|7/18|c.698C>T|p.Thr233Met|992/4064|698/2217|233/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|8/19|c.635C>T|p.Thr212Met|928/4000|635/2154|212/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|7/18|c.635C>T|p.Thr212Met|929/4001|635/2154|212/717|| 22 39144787 . G T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|7/18|c.679C>A|p.Arg227Ser|973/4064|679/2217|227/738||,T|missense_variant&splice_region_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|8/19|c.616C>A|p.Arg206Ser|909/4000|616/2154|206/717||,T|missense_variant&splice_region_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|7/18|c.616C>A|p.Arg206Ser|910/4001|616/2154|206/717|| 22 39144807 . C T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|6/17|c.678-19G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|7/18|c.615-19G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|6/17|c.615-19G>A|||||| 22 39145721 . C T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|6/17|c.677+50G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|7/18|c.614+50G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|6/17|c.614+50G>A|||||| 22 39145749 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|6/17|c.677+22C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|7/18|c.614+22C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|6/17|c.614+22C>T|||||| 22 39145750 . C T . . ANN=T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|6/17|c.677+21G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|7/18|c.614+21G>A||||||,T|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|6/17|c.614+21G>A|||||| 22 39145765 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|6/17|c.677+6C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|7/18|c.614+6C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|6/17|c.614+6C>T|||||| 22 39145816 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|6/18|c.632G>A|p.Arg211His|926/4064|632/2217|211/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|7/19|c.569G>A|p.Arg190His|862/4000|569/2154|190/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|6/18|c.569G>A|p.Arg190His|863/4001|569/2154|190/717|| 22 39145900 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|5/17|c.584-36C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|6/18|c.521-36C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|5/17|c.521-36C>T|||||| 22 39146265 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|5/18|c.548C>T|p.Ala183Val|842/4064|548/2217|183/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|6/19|c.485C>T|p.Ala162Val|778/4000|485/2154|162/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|5/18|c.485C>T|p.Ala162Val|779/4001|485/2154|162/717|| 22 39146275 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|5/18|c.538G>A|p.Val180Ile|832/4064|538/2217|180/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|6/19|c.475G>A|p.Val159Ile|768/4000|475/2154|159/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|5/18|c.475G>A|p.Val159Ile|769/4001|475/2154|159/717|| 22 39146279 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|5/18|c.534C>T|p.Ser178Ser|828/4064|534/2217|178/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|6/19|c.471C>T|p.Ser157Ser|764/4000|471/2154|157/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|5/18|c.471C>T|p.Ser157Ser|765/4001|471/2154|157/717|| 22 39146283 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|5/18|c.530G>A|p.Arg177Gln|824/4064|530/2217|177/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|6/19|c.467G>A|p.Arg156Gln|760/4000|467/2154|156/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|5/18|c.467G>A|p.Arg156Gln|761/4001|467/2154|156/717|| 22 39146314 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|5/18|c.499G>A|p.Val167Met|793/4064|499/2217|167/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|6/19|c.436G>A|p.Val146Met|729/4000|436/2154|146/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|5/18|c.436G>A|p.Val146Met|730/4001|436/2154|146/717|| 22 39146330 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|5/18|c.425-5C>T||||||,A|splice_region_variant&intron_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|4/17|c.425-5C>T||||||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|5/18|c.483C>T|p.Pro161Pro|777/4064|483/2217|161/738|| 22 39146886 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|4/17|c.424+17C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|5/18|c.424+17C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|4/17|c.424+17C>T|||||| 22 39146907 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|4/18|c.420C>T|p.Tyr140Tyr|714/4064|420/2217|140/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|5/19|c.420C>T|p.Tyr140Tyr|713/4000|420/2154|140/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|4/18|c.420C>T|p.Tyr140Tyr|714/4001|420/2154|140/717|| 22 39146965 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|4/18|c.362G>A|p.Arg121His|656/4064|362/2217|121/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|5/19|c.362G>A|p.Arg121His|655/4000|362/2154|121/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|4/18|c.362G>A|p.Arg121His|656/4001|362/2154|121/717|| 22 39147166 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|3/17|c.286+49C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|4/18|c.286+49C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|3/17|c.286+49C>T|||||| 22 39147192 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|3/17|c.286+23C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|4/18|c.286+23C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|3/17|c.286+23C>T|||||| 22 39147197 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|3/17|c.286+18C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|4/18|c.286+18C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|3/17|c.286+18C>T|||||| 22 39147225 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|3/18|c.276C>T|p.Asp92Asp|570/4064|276/2217|92/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|4/19|c.276C>T|p.Asp92Asp|569/4000|276/2154|92/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|3/18|c.276C>T|p.Asp92Asp|570/4001|276/2154|92/717|| 22 39147235 . A C . . ANN=C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|3/18|c.266T>G|p.Leu89Arg|560/4064|266/2217|89/738||,C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|4/19|c.266T>G|p.Leu89Arg|559/4000|266/2154|89/717||,C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|3/18|c.266T>G|p.Leu89Arg|560/4001|266/2154|89/717|| 22 39147346 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|3/18|c.155G>A|p.Arg52His|449/4064|155/2217|52/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|4/19|c.155G>A|p.Arg52His|448/4000|155/2154|52/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|3/18|c.155G>A|p.Arg52His|449/4001|155/2154|52/717|| 22 39148475 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|2/17|c.122+37C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|3/18|c.122+37C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|2/17|c.122+37C>T|||||| 22 39148483 . G A . . ANN=A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199579.1|Coding|2/17|c.122+29C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_001199580.1|Coding|3/18|c.122+29C>T||||||,A|intron_variant|MODIFIER|SUN2|SUN2|transcript|NM_015374.2|Coding|2/17|c.122+29C>T|||||| 22 39148537 . T C . . ANN=C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|2/18|c.97A>G|p.Thr33Ala|391/4064|97/2217|33/738||,C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|3/19|c.97A>G|p.Thr33Ala|390/4000|97/2154|33/717||,C|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|2/18|c.97A>G|p.Thr33Ala|391/4001|97/2154|33/717|| 22 39148588 . C T . . ANN=T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|2/18|c.46G>A|p.Asp16Asn|340/4064|46/2217|16/738||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|3/19|c.46G>A|p.Asp16Asn|339/4000|46/2154|16/717||,T|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|2/18|c.46G>A|p.Asp16Asn|340/4001|46/2154|16/717|| 22 39148589 . G A . . ANN=A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199579.1|Coding|2/18|c.45C>T|p.Asp15Asp|339/4064|45/2217|15/738||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_001199580.1|Coding|3/19|c.45C>T|p.Asp15Asp|338/4000|45/2154|15/717||,A|synonymous_variant|LOW|SUN2|SUN2|transcript|NM_015374.2|Coding|2/18|c.45C>T|p.Asp15Asp|339/4001|45/2154|15/717|| 22 39148606 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|2/18|c.28C>T|p.Arg10Cys|322/4064|28/2217|10/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|3/19|c.28C>T|p.Arg10Cys|321/4000|28/2154|10/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|2/18|c.28C>T|p.Arg10Cys|322/4001|28/2154|10/717|| 22 39148608 . G A . . ANN=A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199579.1|Coding|2/18|c.26C>T|p.Thr9Met|320/4064|26/2217|9/738||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_001199580.1|Coding|3/19|c.26C>T|p.Thr9Met|319/4000|26/2154|9/717||,A|missense_variant|MODERATE|SUN2|SUN2|transcript|NM_015374.2|Coding|2/18|c.26C>T|p.Thr9Met|320/4001|26/2154|9/717|| 22 39175438 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|DNAL4|DNAL4|transcript|NM_005740.2|Coding|4/4|c.*16C>G|||||16| 22 39176886 . G A . . ANN=A|intron_variant|MODIFIER|DNAL4|DNAL4|transcript|NM_005740.2|Coding|3/3|c.153+45C>T|||||| 22 39176911 . G A . . ANN=A|intron_variant|MODIFIER|DNAL4|DNAL4|transcript|NM_005740.2|Coding|3/3|c.153+20C>T|||||| 22 39176976 . C A . . ANN=A|missense_variant|MODERATE|DNAL4|DNAL4|transcript|NM_005740.2|Coding|3/4|c.108G>T|p.Met36Ile|336/1487|108/318|36/105|| 22 39178637 . G A . . ANN=A|intron_variant|MODIFIER|DNAL4|DNAL4|transcript|NM_005740.2|Coding|2/3|c.69+31C>T|||||| 22 39178701 . A G . . ANN=G|synonymous_variant|LOW|DNAL4|DNAL4|transcript|NM_005740.2|Coding|2/4|c.36T>C|p.Asp12Asp|264/1487|36/318|12/105|| 22 39218572 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|NPTXR|NPTXR|transcript|NM_014293.3|Coding|5/5|c.*42G>A|||||42| 22 39218662 . A G . . ANN=G|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|5/5|c.1455T>C|p.Gly485Gly|1609/5815|1455/1503|485/500|| 22 39218763 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|5/5|c.1354G>A|p.Ala452Thr|1508/5815|1354/1503|452/500|| 22 39218764 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|5/5|c.1353C>T|p.His451His|1507/5815|1353/1503|451/500|| 22 39218819 . A G . . ANN=G|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|5/5|c.1298T>C|p.Phe433Ser|1452/5815|1298/1503|433/500|| 22 39219069 . A G . . ANN=G|intron_variant|MODIFIER|NPTXR|NPTXR|transcript|NM_014293.3|Coding|4/4|c.1278+19T>C|||||| 22 39219172 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|4/5|c.1194C>T|p.Asp398Asp|1348/5815|1194/1503|398/500|| 22 39219213 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|4/5|c.1153G>A|p.Ala385Thr|1307/5815|1153/1503|385/500|| 22 39222502 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|3/4|c.1098+3A>G|||||| 22 39222512 . T C . . ANN=C|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|3/5|c.1091A>G|p.Asn364Ser|1245/5815|1091/1503|364/500|| 22 39222589 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|3/5|c.1014C>T|p.Phe338Phe|1168/5815|1014/1503|338/500|| 22 39222598 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|3/5|c.1005C>T|p.Gly335Gly|1159/5815|1005/1503|335/500|| 22 39222627 . G A . . ANN=A|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|3/5|c.976C>T|p.Arg326Trp|1130/5815|976/1503|326/500|| 22 39222635 . A G . . ANN=G|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|3/5|c.968T>C|p.Met323Thr|1122/5815|968/1503|323/500|| 22 39222652 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|3/5|c.951C>T|p.Tyr317Tyr|1105/5815|951/1503|317/500|| 22 39222661 . G T . . ANN=T|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|3/5|c.942C>A|p.Pro314Pro|1096/5815|942/1503|314/500|| 22 39222771 . G C . . ANN=C|intron_variant|MODIFIER|NPTXR|NPTXR|transcript|NM_014293.3|Coding|2/4|c.851-19C>G|||||| 22 39222796 . G A . . ANN=A|intron_variant|MODIFIER|NPTXR|NPTXR|transcript|NM_014293.3|Coding|2/4|c.851-44C>T|||||| 22 39224248 . T C . . ANN=C|intron_variant|MODIFIER|NPTXR|NPTXR|transcript|NM_014293.3|Coding|2/4|c.850+44A>G|||||| 22 39224312 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|2/5|c.830G>A|p.Arg277His|984/5815|830/1503|277/500|| 22 39224357 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|2/5|c.785G>A|p.Arg262Gln|939/5815|785/1503|262/500|| 22 39224383 . A G . . ANN=G|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|2/5|c.759T>C|p.Arg253Arg|913/5815|759/1503|253/500|| 22 39224453 . C T . . ANN=T|missense_variant|MODERATE|NPTXR|NPTXR|transcript|NM_014293.3|Coding|2/5|c.689G>A|p.Gly230Asp|843/5815|689/1503|230/500|| 22 39224491 . G A . . ANN=A|synonymous_variant|LOW|NPTXR|NPTXR|transcript|NM_014293.3|Coding|2/5|c.651C>T|p.Leu217Leu|805/5815|651/1503|217/500|| 22 39262225 . C G . . ANN=G|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.1228G>C|p.Ala410Pro|1291/3268|1228/1239|410/412|| 22 39262240 . C T . . ANN=T|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.1213G>A|p.Gly405Ser|1276/3268|1213/1239|405/412|| 22 39262378 . G A . . ANN=A|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.1075C>T|p.Arg359Cys|1138/3268|1075/1239|359/412|| 22 39262411 . C T . . ANN=T|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.1042G>A|p.Gly348Ser|1105/3268|1042/1239|348/412|| 22 39262466 . C A . . ANN=A|synonymous_variant|LOW|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.987G>T|p.Pro329Pro|1050/3268|987/1239|329/412|| 22 39262577 . G A . . ANN=A|synonymous_variant|LOW|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.876C>T|p.Pro292Pro|939/3268|876/1239|292/412|| 22 39262730 . G C . . ANN=C|synonymous_variant|LOW|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.723C>G|p.Pro241Pro|786/3268|723/1239|241/412|| 22 39262739 . C T . . ANN=T|synonymous_variant|LOW|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.714G>A|p.Pro238Pro|777/3268|714/1239|238/412|| 22 39262740 . G C . . ANN=C|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.713C>G|p.Pro238Arg|776/3268|713/1239|238/412|| 22 39262793 . C T . . ANN=T|synonymous_variant|LOW|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.660G>A|p.Leu220Leu|723/3268|660/1239|220/412|| 22 39262800 . C T . . ANN=T|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.653G>A|p.Ser218Asn|716/3268|653/1239|218/412|| 22 39262852 . T C . . ANN=C|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.601A>G|p.Lys201Glu|664/3268|601/1239|201/412|| 22 39263032 . C G . . ANN=G|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.421G>C|p.Gly141Arg|484/3268|421/1239|141/412|| 22 39263050 . G C . . ANN=C|missense_variant|MODERATE|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.403C>G|p.Pro135Ala|466/3268|403/1239|135/412|| 22 39263162 . G A . . ANN=A|synonymous_variant|LOW|CBX6|CBX6|transcript|NM_014292.3|Coding|5/5|c.291C>T|p.Phe97Phe|354/3268|291/1239|97/412|| 22 39267453 . A T . . ANN=T|intron_variant|MODIFIER|CBX6|CBX6|transcript|NM_014292.3|Coding|4/4|c.246+32T>A|||||| 22 39267515 . C T . . ANN=T|synonymous_variant|LOW|CBX6|CBX6|transcript|NM_014292.3|Coding|4/5|c.216G>A|p.Arg72Arg|279/3268|216/1239|72/412|| 22 39267653 . G A . . ANN=A|intron_variant|MODIFIER|CBX6|CBX6|transcript|NM_014292.3|Coding|3/4|c.179+44C>T|||||| 22 39267670 . C A . . ANN=A|intron_variant|MODIFIER|CBX6|CBX6|transcript|NM_014292.3|Coding|3/4|c.179+27G>T|||||| 22 39267688 . A G . . ANN=G|intron_variant|MODIFIER|CBX6|CBX6|transcript|NM_014292.3|Coding|3/4|c.179+9T>C|||||| 22 39267876 . C G . . ANN=G|intron_variant|MODIFIER|CBX6|CBX6|transcript|NM_014292.3|Coding|2/4|c.113+31G>C|||||| 22 39353680 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|1/5|c.-17C>G|||||17|,G|5_prime_UTR_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|1/5|c.-17C>G|||||17|,G|5_prime_UTR_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|1/5|c.-17C>G|||||17| 22 39353743 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|1/4|c.29+18G>A||||||,A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|1/4|c.29+18G>A||||||,A|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|1/4|c.29+18G>A|||||| 22 39353754 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|1/4|c.29+29C>T||||||,T|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|1/4|c.29+29C>T||||||,T|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|1/4|c.29+29C>T|||||| 22 39355501 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|1/4|c.30-46C>T||||||,T|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|1/4|c.30-46C>T||||||,T|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|1/4|c.30-100C>T|||||| 22 39355572 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|2/5|c.55A>G|p.Thr19Ala|225/1444|55/600|19/199||,G|missense_variant|MODERATE|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|2/5|c.55A>G|p.Thr19Ala|225/1103|55/600|19/199||,G|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|1/4|c.30-29A>G|||||| 22 39355631 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|2/5|c.114G>A|p.Glu38Glu|284/1444|114/600|38/199||,A|synonymous_variant|LOW|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|2/5|c.114G>A|p.Glu38Glu|284/1103|114/600|38/199||,A|synonymous_variant|LOW|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|2/5|c.60G>A|p.Glu20Glu|230/1390|60/546|20/181|| 22 39355632 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|2/5|c.115C>T|p.Arg39Cys|285/1444|115/600|39/199||,T|missense_variant|MODERATE|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|2/5|c.115C>T|p.Arg39Cys|285/1103|115/600|39/199||,T|missense_variant|MODERATE|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|2/5|c.61C>T|p.Arg21Cys|231/1390|61/546|21/181|| 22 39355717 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|2/4|c.174+26G>A||||||,A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|2/4|c.174+26G>A||||||,A|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|2/4|c.120+26G>A|||||| 22 39358069 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_145699.3|Coding|3/4|c.470-34G>A||||||,A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|3/4|c.470-34G>A||||||,A|intron_variant|MODIFIER|APOBEC3A|APOBEC3A|transcript|NM_001270406.1|Coding|3/4|c.416-34G>A|||||| 22 39378441 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|1/8|c.-18G>A|||||18|,A|5_prime_UTR_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|1/8|c.-18G>A|||||18|,A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-9995G>A|||||| 22 39378446 . T TAA . . ANN=AA|5_prime_UTR_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|1/8|c.-12_-11dupAA|||||10|INFO_REALIGN_3_PRIME,AA|5_prime_UTR_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|1/8|c.-12_-11dupAA|||||10|INFO_REALIGN_3_PRIME,AA|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-9989_586-9988dupAA||||||INFO_REALIGN_3_PRIME 22 39378459 . A G . . ANN=G|start_lost|HIGH|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|1/8|c.1A>G|p.Met1?|56/1538|1/1149|1/382||,G|start_lost|HIGH|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|1/8|c.1A>G|p.Met1?|56/1463|1/1074|1/357||,G|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-9977A>G||||||;LOF=(APOBEC3B|APOBEC3B|2|1.00) 22 39378523 . CT C . . ANN=C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-9912delT||||||,C|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|1/7|c.17+49delT||||||,C|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|1/7|c.17+49delT|||||| 22 39380066 . TC T . . ANN=T|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-8369delC||||||,T|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|1/7|c.18-13delC||||||,T|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|1/7|c.18-13delC|||||| 22 39380218 . AG A . . ANN=|frameshift_variant|HIGH|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|2/8|c.160delG|p.Val54fs|215/1538|160/1149|54/382||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|2/8|c.160delG|p.Val54fs|215/1463|160/1074|54/357||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-8214delG||||||INFO_REALIGN_3_PRIME;LOF=(APOBEC3B|APOBEC3B|2|1.00) 22 39382079 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|3/8|c.437C>A|p.Thr146Lys|492/1538|437/1149|146/382||,A|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|3/8|c.437C>A|p.Thr146Lys|492/1463|437/1074|146/357||,A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-6357C>A|||||| 22 39382081 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|3/8|c.439A>G|p.Ile147Val|494/1538|439/1149|147/382||,G|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|3/8|c.439A>G|p.Ile147Val|494/1463|439/1074|147/357||,G|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-6355A>G|||||| 22 39382255 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-6181G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|3/7|c.455-48G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|3/7|c.455-48G>A|||||| 22 39382348 . A C . . ANN=C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/8|c.500A>C|p.Gln167Pro|555/1538|500/1149|167/382||,C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/8|c.500A>C|p.Gln167Pro|555/1463|500/1074|167/357||,C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-6088A>C|||||| 22 39382376 . A C . . ANN=C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/8|c.528A>C|p.Glu176Asp|583/1538|528/1149|176/382||,C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/8|c.528A>C|p.Glu176Asp|583/1463|528/1074|176/357||,C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-6060A>C|||||| 22 39382387 . T C . . ANN=C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/8|c.539T>C|p.Phe180Ser|594/1538|539/1149|180/382||,C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/8|c.539T>C|p.Phe180Ser|594/1463|539/1074|180/357||,C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-6049T>C|||||| 22 39382414 . T C . . ANN=C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/8|c.566T>C|p.Leu189Pro|621/1538|566/1149|189/382||,C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/8|c.566T>C|p.Leu189Pro|621/1463|566/1074|189/357||,C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-6022T>C|||||| 22 39382418 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/7|c.569+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/7|c.569+1G>A||||||,A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-6018G>A||||||;LOF=(APOBEC3B|APOBEC3B|2|1.00) 22 39382443 . A G . . ANN=G|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-5993A>G||||||,G|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/7|c.569+26A>G||||||,G|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/7|c.569+26A>G|||||| 22 39382447 . C G . . ANN=G|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-5989C>G||||||,G|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/7|c.569+30C>G||||||,G|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/7|c.569+30C>G|||||| 22 39385422 . G A,T . . ANN=A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-3014G>A||||||,T|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-3014G>T||||||,A|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/7|c.570-40G>A||||||,T|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/7|c.570-40G>T||||||,A|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/7|c.570-40G>A||||||,T|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/7|c.570-40G>T|||||| 22 39385423 . A C . . ANN=C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-3013A>C||||||,C|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|4/7|c.570-39A>C||||||,C|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|4/7|c.570-39A>C|||||| 22 39385463 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|5/8|c.571T>C|p.Tyr191His|626/1538|571/1149|191/382||,C|missense_variant&splice_region_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|5/8|c.571T>C|p.Tyr191His|626/1463|571/1074|191/357||,C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-2973T>C|||||| 22 39385510 . T C . . ANN=C|synonymous_variant|LOW|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|5/8|c.618T>C|p.Pro206Pro|673/1538|618/1149|206/382||,C|synonymous_variant|LOW|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|5/8|c.618T>C|p.Pro206Pro|673/1463|618/1074|206/357||,C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-2926T>C|||||| 22 39385622 . G A,C,T . . ANN=A|splice_region_variant&intron_variant|LOW|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|5/7|c.723+7G>A||||||,C|splice_region_variant&intron_variant|LOW|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|5/7|c.723+7G>C||||||,T|splice_region_variant&intron_variant|LOW|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|5/7|c.723+7G>T||||||,A|splice_region_variant&intron_variant|LOW|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|5/7|c.723+7G>A||||||,C|splice_region_variant&intron_variant|LOW|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|5/7|c.723+7G>C||||||,T|splice_region_variant&intron_variant|LOW|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|5/7|c.723+7G>T||||||,A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-2814G>A||||||,C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-2814G>C||||||,T|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-2814G>T|||||| 22 39385639 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-2797C>T||||||,T|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|5/7|c.723+24C>T||||||,T|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|5/7|c.723+24C>T|||||| 22 39385663 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-2773G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|5/7|c.723+48G>A||||||,A|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|5/7|c.723+48G>A|||||| 22 39387395 . TG T . . ANN=|frameshift_variant|HIGH|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|6/8|c.784delG|p.Val262fs|839/1538|784/1149|262/382||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-1039delG||||||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|5/7|c.724-15delG||||||INFO_REALIGN_3_PRIME;LOF=(APOBEC3B|APOBEC3B|2|0.50) 22 39388010 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-426C>T||||||,T|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|6/7|c.1019-29C>T||||||,T|intron_variant|MODIFIER|APOBEC3B-AS1|APOBEC3B-AS1|transcript|NR_104187.1|Noncoding|4/4|n.643-387G>A||||||,T|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|6/7|c.944-29C>T|||||| 22 39388046 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|7/8|c.1026G>C|p.Glu342Asp|1081/1538|1026/1149|342/382||,C|missense_variant|MODERATE|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|7/8|c.951G>C|p.Glu317Asp|1006/1463|951/1074|317/357||,C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-390G>C||||||,C|intron_variant|MODIFIER|APOBEC3B-AS1|APOBEC3B-AS1|transcript|NR_104187.1|Noncoding|4/4|n.642+357C>G|||||| 22 39388163 . T C . . ANN=C|intron_variant|MODIFIER|APOBEC3A_B|APOBEC3A_B|transcript|NM_001193289.1|Coding|4/4|c.586-273T>C||||||,C|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_004900.4|Coding|7/7|c.1134+9T>C||||||,C|intron_variant|MODIFIER|APOBEC3B-AS1|APOBEC3B-AS1|transcript|NR_104187.1|Noncoding|4/4|n.642+240A>G||||||,C|intron_variant|MODIFIER|APOBEC3B|APOBEC3B|transcript|NM_001270411.1|Coding|7/7|c.1059+9T>C|||||| 22 39410388 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|1/3|c.17+4C>T|||||| 22 39411555 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|1/3|c.18-45C>T|||||| 22 39411619 . T C . . ANN=C|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|2/4|c.37T>C|p.Tyr13His|140/1109|37/573|13/190|| 22 39411696 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|2/4|c.114C>T|p.Thr38Thr|217/1109|114/573|38/190|| 22 39411711 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|2/4|c.129G>C|p.Lys43Asn|232/1109|129/573|43/190|| 22 39411738 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|2/4|c.156G>A|p.Thr52Thr|259/1109|156/573|52/190|| 22 39413744 . CCT C . . ANN=C|intron_variant|MODIFIER|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|2/3|c.175-26_175-25delCT|||||| 22 39413748 . T C . . ANN=C|intron_variant|MODIFIER|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|2/3|c.175-23T>C|||||| 22 39413782 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/4|c.186G>C|p.Glu62Asp|289/1109|186/573|62/190|| 22 39413784 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/4|c.188C>T|p.Thr63Ile|291/1109|188/573|63/190|| 22 39413824 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/4|c.228C>T|p.Cys76Cys|331/1109|228/573|76/190|| 22 39413871 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/4|c.275C>T|p.Thr92Ile|378/1109|275/573|92/190|| 22 39414026 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/4|c.430G>A|p.Ala144Thr|533/1109|430/573|144/190|| 22 39414042 . A C . . ANN=C|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/4|c.446A>C|p.Asp149Ala|549/1109|446/573|149/190|| 22 39414087 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/3|c.454+37G>A|||||| 22 39414090 . A T . . ANN=T|intron_variant|MODIFIER|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/3|c.454+40A>T|||||| 22 39414224 . A G . . ANN=G|intron_variant|MODIFIER|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/3|c.455-50A>G|||||| 22 39414240 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|3/3|c.455-34G>A|||||| 22 39414282 . T C . . ANN=C|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|4/4|c.463T>C|p.Tyr155His|566/1109|463/573|155/190|| 22 39414382 . G T . . ANN=T|missense_variant|MODERATE|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|4/4|c.563G>T|p.Ser188Ile|666/1109|563/573|188/190|| 22 39414439 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|APOBEC3C|APOBEC3C|transcript|NM_014508.2|Coding|4/4|c.*47A>G|||||47| 22 39417547 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|1/6|c.17+6G>A|||||| 22 39417553 . C CACTAT . . ANN=CACTAT|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|1/6|c.17+12_17+13insACTAT|||||| 22 39417573 . TC T . . ANN=T|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|1/6|c.17+33delC|||||| 22 39417583 . TC T . . ANN=T|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|1/6|c.17+43delC|||||| 22 39421109 . GCTT G . . ANN=|disruptive_inframe_deletion|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/7|c.249_251delCTT|p.Phe83del|656/2503|249/1161|83/386||INFO_REALIGN_3_PRIME 22 39421112 . T G . . ANN=G|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/7|c.248T>G|p.Phe83Cys|655/2503|248/1161|83/386|| 22 39421118 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/7|c.254C>T|p.Ser85Phe|661/2503|254/1161|85/386|| 22 39421122 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/7|c.258G>C|p.Trp86Cys|665/2503|258/1161|86/386|| 22 39421136 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/7|c.272G>C|p.Arg91Pro|679/2503|272/1161|91/386|| 22 39421153 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/7|c.289C>T|p.Arg97Cys|696/2503|289/1161|97/386|| 22 39421201 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/7|c.337G>A|p.Val113Met|744/2503|337/1161|113/386|| 22 39421240 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/7|c.376G>A|p.Val126Ile|783/2503|376/1161|126/386|| 22 39421367 . G C . . ANN=C|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/6|c.490+13G>C|||||| 22 39421382 . T C . . ANN=C|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/6|c.490+28T>C|||||| 22 39421383 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/6|c.490+29G>A|||||| 22 39421512 . A G . . ANN=G|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/6|c.491-50A>G|||||| 22 39421526 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|3/6|c.491-36G>A|||||| 22 39421564 . T A . . ANN=A|missense_variant&splice_region_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/7|c.493T>A|p.Phe165Ile|900/2503|493/1161|165/386|| 22 39421586 . T G . . ANN=G|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/7|c.515T>G|p.Phe172Cys|922/2503|515/1161|172/386|| 22 39421592 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/7|c.521G>A|p.Cys174Tyr|928/2503|521/1161|174/386|| 22 39421595 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/7|c.524A>G|p.Asn175Ser|931/2503|524/1161|175/386|| 22 39421607 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/7|c.536C>A|p.Pro179Gln|943/2503|536/1161|179/386|| 22 39421612 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/7|c.541A>G|p.Met181Val|948/2503|541/1161|181/386|| 22 39421622 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/7|c.551A>G|p.Tyr184Cys|958/2503|551/1161|184/386|| 22 39421701 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/6|c.605+25C>T|||||| 22 39421706 . C G . . ANN=G|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/6|c.605+30C>G|||||| 22 39421715 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/6|c.605+39C>T|||||| 22 39425328 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|4/6|c.606-40G>A|||||| 22 39425438 . C A . . ANN=A|synonymous_variant|LOW|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|5/7|c.676C>A|p.Arg226Arg|1083/2503|676/1161|226/386|| 22 39425443 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|5/7|c.681C>A|p.Asn227Lys|1088/2503|681/1161|227/386|| 22 39425474 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|5/7|c.712A>G|p.Thr238Ala|1119/2503|712/1161|238/386|| 22 39425505 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|5/7|c.743G>A|p.Arg248Lys|1150/2503|743/1161|248/386|| 22 39425510 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|5/7|c.748G>C|p.Val250Leu|1155/2503|748/1161|250/386|| 22 39428289 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|7/7|c.1129C>A|p.Leu377Met|1536/2503|1129/1161|377/386|| 22 39428305 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|7/7|c.1145G>A|p.Arg382Gln|1552/2503|1145/1161|382/386|| 22 39428331 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOBEC3D|APOBEC3D|transcript|NM_152426.3|Coding|7/7|c.*10C>A|||||10| 22 39440149 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_001006666.1|Coding|3/3|c.233C>T|p.Ala78Val|526/805|233/306|78/101||,T|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|2/6|c.172-797C>T|||||| 22 39440176 . A T . . ANN=T|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_001006666.1|Coding|3/3|c.260A>T|p.Gln87Leu|553/805|260/306|87/101||,T|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|2/6|c.172-770A>T|||||| 22 39440199 . G T . . ANN=T|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_001006666.1|Coding|3/3|c.283G>T|p.Gly95Cys|576/805|283/306|95/101||,T|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|2/6|c.172-747G>T|||||| 22 39440236 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_001006666.1|Coding|3/3|c.*14A>C|||||14|,C|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|2/6|c.172-710A>C|||||| 22 39440271 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_001006666.1|Coding|3/3|c.*49G>A|||||49|,A|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|2/6|c.172-675G>A|||||| 22 39441203 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|3/7|c.429C>T|p.Arg143Arg|722/4690|429/1122|143/373|| 22 39441243 . CAG C . . ANN=C|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|3/6|c.451+19_451+20delAG|||||| 22 39441383 . G C . . ANN=C|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|3/6|c.452-50G>C|||||| 22 39441399 . C G . . ANN=G|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|3/6|c.452-34C>G|||||| 22 39441449 . G T . . ANN=T|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|4/7|c.468G>T|p.Trp156Cys|761/4690|468/1122|156/373|| 22 39441451 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|4/7|c.470A>G|p.Glu157Gly|763/4690|470/1122|157/373|| 22 39441478 . C A . . ANN=A|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|4/7|c.497C>A|p.Pro166Gln|790/4690|497/1122|166/373|| 22 39441570 . A G . . ANN=G|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|4/6|c.566+23A>G|||||| 22 39445380 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|4/6|c.567-50G>A|||||| 22 39445421 . T C . . ANN=C|intron_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|4/6|c.567-9T>C|||||| 22 39445436 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|5/7|c.573G>A|p.Pro191Pro|866/4690|573/1122|191/373|| 22 39445449 . T A . . ANN=A|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|5/7|c.586T>A|p.Tyr196Asn|879/4690|586/1122|196/373|| 22 39445554 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|5/7|c.691G>A|p.Val231Ile|984/4690|691/1122|231/373|| 22 39445556 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|5/7|c.693C>T|p.Val231Val|986/4690|693/1122|231/373|| 22 39448336 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|6/7|c.981C>T|p.Ser327Ser|1274/4690|981/1122|327/373|| 22 39448615 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|7/7|c.1037A>G|p.Asn346Ser|1330/4690|1037/1122|346/373|| 22 39448695 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|7/7|c.1117G>A|p.Glu373Lys|1410/4690|1117/1122|373/373|| 22 39448711 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|7/7|c.*11C>A|||||11| 22 39448750 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|APOBEC3F|APOBEC3F|transcript|NM_145298.5|Coding|7/7|c.*50T>C|||||50| 22 39476946 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|3/8|c.180C>T|p.Ser60Ser|537/1834|180/1155|60/384|| 22 39476982 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|3/8|c.216C>T|p.His72His|573/1834|216/1155|72/384|| 22 39477120 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|3/8|c.354C>T|p.Ile118Ile|711/1834|354/1155|118/384|| 22 39477123 . T C . . ANN=C|synonymous_variant|LOW|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|3/8|c.357T>C|p.Phe119Phe|714/1834|357/1155|119/384|| 22 39477173 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|3/8|c.407G>A|p.Arg136His|764/1834|407/1155|136/384|| 22 39477252 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|3/7|c.466+20G>A|||||| 22 39477438 . C G . . ANN=G|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|3/7|c.467-38C>G|||||| 22 39477455 . G T . . ANN=T|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|3/7|c.467-21G>T|||||| 22 39477566 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|4/8|c.557A>G|p.His186Arg|914/1834|557/1155|186/384|| 22 39477616 . G T . . ANN=T|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|4/7|c.581+26G>T|||||| 22 39479729 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|4/7|c.582-7T>C|||||| 22 39479742 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|5/8|c.588G>A|p.Ser196Ser|945/1834|588/1155|196/384|| 22 39482267 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|5/7|c.736-17C>T|||||| 22 39482314 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/8|c.766C>T|p.Arg256Cys|1123/1834|766/1155|256/384|| 22 39482315 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/8|c.767G>A|p.Arg256His|1124/1834|767/1155|256/384|| 22 39482359 . C G . . ANN=G|missense_variant|MODERATE|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/8|c.811C>G|p.Leu271Val|1168/1834|811/1155|271/384|| 22 39482371 . C G . . ANN=G|missense_variant|MODERATE|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/8|c.823C>G|p.Gln275Glu|1180/1834|823/1155|275/384|| 22 39482461 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/8|c.913G>A|p.Val305Met|1270/1834|913/1155|305/384|| 22 39482536 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/8|c.988G>A|p.Glu330Lys|1345/1834|988/1155|330/384|| 22 39482595 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/7|c.1024+23G>A|||||| 22 39482970 . C G,T . . ANN=G|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/7|c.1025-46C>G||||||,T|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/7|c.1025-46C>T|||||| 22 39482982 . G A . . ANN=A|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|6/7|c.1025-34G>A|||||| 22 39483102 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|7/8|c.1111C>T|p.Leu371Leu|1468/1834|1111/1155|371/384|| 22 39483155 . A G . . ANN=G|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|7/7|c.1140+24A>G|||||| 22 39483165 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|7/7|c.1140+34C>T|||||| 22 39483399 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|7/7|c.1141-13C>T|||||| 22 39483432 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|8/8|c.*6G>A|||||6| 22 39483459 . A T . . ANN=T|3_prime_UTR_variant|MODIFIER|APOBEC3G|APOBEC3G|transcript|NM_021822.3|Coding|8/8|c.*33A>T|||||33| 22 39496322 . TAAC T . . ANN=|disruptive_inframe_deletion|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|2/6|c.45_47delCAA|p.Asn15del|172/1143|45/603|15/200||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|2/4|c.45_47delCAA|p.Asn15del|172/639|45/465|15/154||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|2/5|c.45_47delCAA|p.Asn15del|172/1046|45/549|15/182||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|2/5|c.45_47delCAA|p.Asn15del|172/1049|45/552|15/183||INFO_REALIGN_3_PRIME 22 39496336 . G T . . ANN=T|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|2/6|c.53G>T|p.Arg18Leu|180/1143|53/603|18/200||,T|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|2/4|c.53G>T|p.Arg18Leu|180/639|53/465|18/154||,T|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|2/5|c.53G>T|p.Arg18Leu|180/1046|53/549|18/182||,T|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|2/5|c.53G>T|p.Arg18Leu|180/1049|53/552|18/183|| 22 39496357 . C G . . ANN=G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|2/6|c.74C>G|p.Pro25Arg|201/1143|74/603|25/200||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|2/4|c.74C>G|p.Pro25Arg|201/639|74/465|25/154||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|2/5|c.74C>G|p.Pro25Arg|201/1046|74/549|25/182||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|2/5|c.74C>G|p.Pro25Arg|201/1049|74/552|25/183|| 22 39496364 . G A . . ANN=A|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|2/6|c.81G>A|p.Lys27Lys|208/1143|81/603|27/200||,A|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|2/4|c.81G>A|p.Lys27Lys|208/639|81/465|27/154||,A|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|2/5|c.81G>A|p.Lys27Lys|208/1046|81/549|27/182||,A|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|2/5|c.81G>A|p.Lys27Lys|208/1049|81/552|27/183|| 22 39496412 . G C . . ANN=C|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|2/6|c.129G>C|p.Thr43Thr|256/1143|129/603|43/200||,C|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|2/4|c.129G>C|p.Thr43Thr|256/639|129/465|43/154||,C|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|2/5|c.129G>C|p.Thr43Thr|256/1046|129/549|43/182||,C|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|2/5|c.129G>C|p.Thr43Thr|256/1049|129/552|43/183|| 22 39497268 . T C . . ANN=C|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.177T>C|p.Phe59Phe|304/1143|177/603|59/200||,C|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.177T>C|p.Phe59Phe|304/639|177/465|59/154||,C|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.177T>C|p.Phe59Phe|304/1046|177/549|59/182||,C|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.177T>C|p.Phe59Phe|304/1049|177/552|59/183|| 22 39497300 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.209A>G|p.Glu70Gly|336/1143|209/603|70/200||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.209A>G|p.Glu70Gly|336/639|209/465|70/154||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.209A>G|p.Glu70Gly|336/1046|209/549|70/182||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.209A>G|p.Glu70Gly|336/1049|209/552|70/183|| 22 39497303 . C T . . ANN=T|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.212C>T|p.Thr71Met|339/1143|212/603|71/200||,T|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.212C>T|p.Thr71Met|339/639|212/465|71/154||,T|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.212C>T|p.Thr71Met|339/1046|212/549|71/182||,T|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.212C>T|p.Thr71Met|339/1049|212/552|71/183|| 22 39497389 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.298G>C|p.Asp100His|425/1143|298/603|100/200||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.298G>C|p.Asp100His|425/639|298/465|100/154||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.298G>C|p.Asp100His|425/1046|298/549|100/182||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.298G>C|p.Asp100His|425/1049|298/552|100/183|| 22 39497404 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.313G>C|p.Gly105Arg|440/1143|313/603|105/200||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.313G>C|p.Gly105Arg|440/639|313/465|105/154||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.313G>C|p.Gly105Arg|440/1046|313/549|105/182||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.313G>C|p.Gly105Arg|440/1049|313/552|105/183|| 22 39497406 . C T . . ANN=T|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.315C>T|p.Gly105Gly|442/1143|315/603|105/200||,T|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.315C>T|p.Gly105Gly|442/639|315/465|105/154||,T|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.315C>T|p.Gly105Gly|442/1046|315/549|105/182||,T|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.315C>T|p.Gly105Gly|442/1049|315/552|105/183|| 22 39497412 . C A,T . . ANN=A|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.321C>A|p.Phe107Leu|448/1143|321/603|107/200||,A|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.321C>A|p.Phe107Leu|448/639|321/465|107/154||,A|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.321C>A|p.Phe107Leu|448/1046|321/549|107/182||,A|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.321C>A|p.Phe107Leu|448/1049|321/552|107/183||,T|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.321C>T|p.Phe107Phe|448/1143|321/603|107/200||,T|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.321C>T|p.Phe107Phe|448/639|321/465|107/154||,T|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.321C>T|p.Phe107Phe|448/1046|321/549|107/182||,T|synonymous_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.321C>T|p.Phe107Phe|448/1049|321/552|107/183|| 22 39497452 . A G . . ANN=G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.361A>G|p.Lys121Glu|488/1143|361/603|121/200||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.361A>G|p.Lys121Glu|488/639|361/465|121/154||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.361A>G|p.Lys121Glu|488/1046|361/549|121/182||,G|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.361A>G|p.Lys121Glu|488/1049|361/552|121/183|| 22 39497454 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/6|c.363G>C|p.Lys121Asn|490/1143|363/603|121/200||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/4|c.363G>C|p.Lys121Asn|490/639|363/465|121/154||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/5|c.363G>C|p.Lys121Asn|490/1046|363/549|121/182||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/5|c.363G>C|p.Lys121Asn|490/1049|363/552|121/183|| 22 39497509 . A G . . ANN=G|splice_donor_variant&intron_variant|HIGH|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/3|c.416+2A>G||||||,G|splice_region_variant&intron_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/5|c.415+3A>G||||||,G|splice_region_variant&intron_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/4|c.415+3A>G||||||,G|splice_region_variant&intron_variant|LOW|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/4|c.415+3A>G||||||;LOF=(APOBEC3H|APOBEC3H|4|0.25) 22 39497549 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/5|c.415+43C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/3|c.416+42C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/4|c.415+43C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/4|c.415+43C>T|||||| 22 39497902 . G T . . ANN=T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|3/5|c.416-18G>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/3|c.416+395G>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|3/4|c.416-18G>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|3/4|c.416-18G>T|||||| 22 39497952 . G A . . ANN=A|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|4/6|c.448G>A|p.Asp150Asn|575/1143|448/603|150/200||,A|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|4/5|c.448G>A|p.Asp150Asn|575/1046|448/549|150/182||,A|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|4/5|c.448G>A|p.Asp150Asn|575/1049|448/552|150/183||,A|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/3|c.416+445G>A|||||| 22 39498038 . G C . . ANN=C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|4/6|c.534G>C|p.Glu178Asp|661/1143|534/603|178/200||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|4/5|c.534G>C|p.Glu178Asp|661/1046|534/549|178/182||,C|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|4/5|c.534G>C|p.Glu178Asp|661/1049|534/552|178/183||,C|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/3|c.417-477G>C|||||| 22 39498075 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|4/5|c.543+28C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166004.2|Coding|3/3|c.417-440C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|4/4|c.543+28C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|4/4|c.543+28C>T|||||| 22 39499653 . C T . . ANN=T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|5/5|c.*35-41C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|4/4|c.544-44C>T||||||,T|intron_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|4/4|c.544-41C>T|||||| 22 39499698 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_001166002.2|Coding|5/5|c.545C>A|p.Ser182Tyr|672/1046|545/549|182/182||,A|missense_variant|MODERATE|APOBEC3H|APOBEC3H|transcript|NM_181773.4|Coding|5/5|c.548C>A|p.Ser183Tyr|675/1049|548/552|183/183||,A|3_prime_UTR_variant|MODIFIER|APOBEC3H|APOBEC3H|transcript|NM_001166003.2|Coding|6/6|c.*39C>A|||||1122| 22 39529880 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CBX7|CBX7|transcript|NM_175709.3|Coding|6/6|c.*16C>T|||||16| 22 39529935 . T C . . ANN=C|synonymous_variant|LOW|CBX7|CBX7|transcript|NM_175709.3|Coding|6/6|c.717A>G|p.Ala239Ala|806/3962|717/756|239/251|| 22 39530409 . C T . . ANN=T|missense_variant|MODERATE|CBX7|CBX7|transcript|NM_175709.3|Coding|5/6|c.595G>A|p.Glu199Lys|684/3962|595/756|199/251|| 22 39530426 . G A . . ANN=A|missense_variant|MODERATE|CBX7|CBX7|transcript|NM_175709.3|Coding|5/6|c.578C>T|p.Ala193Val|667/3962|578/756|193/251|| 22 39530461 . G A . . ANN=A|synonymous_variant|LOW|CBX7|CBX7|transcript|NM_175709.3|Coding|5/6|c.543C>T|p.Asp181Asp|632/3962|543/756|181/251|| 22 39530475 . G C . . ANN=C|missense_variant|MODERATE|CBX7|CBX7|transcript|NM_175709.3|Coding|5/6|c.529C>G|p.Pro177Ala|618/3962|529/756|177/251|| 22 39530494 . C CCGT . . ANN=CCGT|disruptive_inframe_insertion|MODERATE|CBX7|CBX7|transcript|NM_175709.3|Coding|5/6|c.507_509dupACG|p.Arg170dup|598/3962|509/756|170/251|| 22 39530539 . C T . . ANN=T|synonymous_variant|LOW|CBX7|CBX7|transcript|NM_175709.3|Coding|5/6|c.465G>A|p.Lys155Lys|554/3962|465/756|155/251|| 22 39537456 . G C . . ANN=C|intron_variant|MODIFIER|CBX7|CBX7|transcript|NM_175709.3|Coding|2/5|c.114-15C>G|||||| 22 39537468 . T TTGGGGC . . ANN=TTGGGGC|intron_variant|MODIFIER|CBX7|CBX7|transcript|NM_175709.3|Coding|2/5|c.114-28_114-27insGCCCCA|||||| 22 39545758 . G GCAGA . . ANN=GCAGA|intron_variant|MODIFIER|CBX7|CBX7|transcript|NM_175709.3|Coding|2/5|c.113+35_113+36insTCTG|||||| 22 39545759 . CAG C . . ANN=C|intron_variant|MODIFIER|CBX7|CBX7|transcript|NM_175709.3|Coding|2/5|c.113+33_113+34delCT|||||| 22 39545788 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CBX7|CBX7|transcript|NM_175709.3|Coding|2/5|c.113+6C>T|||||| 22 39545829 . G C . . ANN=C|synonymous_variant|LOW|CBX7|CBX7|transcript|NM_175709.3|Coding|2/6|c.78C>G|p.Val26Val|167/3962|78/756|26/251|| 22 39621704 . CCA C . . ANN=C|3_prime_UTR_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|6/7|c.*22_*23delTG|||||22|,C|3_prime_UTR_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|6/7|c.*22_*23delTG|||||22| 22 39621754 . C T . . ANN=T|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_002608.2|Coding|6/7|c.700G>A|p.Ala234Thr|1689/3377|700/726|234/241||,T|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_033016.2|Coding|6/7|c.655G>A|p.Ala219Thr|692/2380|655/681|219/226|| 22 39621797 . G T . . ANN=T|synonymous_variant|LOW|PDGFB|PDGFB|transcript|NM_002608.2|Coding|6/7|c.657C>A|p.Pro219Pro|1646/3377|657/726|219/241||,T|synonymous_variant|LOW|PDGFB|PDGFB|transcript|NM_033016.2|Coding|6/7|c.612C>A|p.Pro204Pro|649/2380|612/681|204/226|| 22 39621819 . G A . . ANN=A|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_002608.2|Coding|6/7|c.635C>T|p.Thr212Met|1624/3377|635/726|212/241||,A|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_033016.2|Coding|6/7|c.590C>T|p.Thr197Met|627/2380|590/681|197/226|| 22 39621882 . C T . . ANN=T|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|5/6|c.602-30G>A||||||,T|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|5/6|c.557-30G>A|||||| 22 39621893 . T C . . ANN=C|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|5/6|c.602-41A>G||||||,C|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|5/6|c.557-41A>G|||||| 22 39626262 . G A . . ANN=A|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|4/6|c.457-29C>T||||||,A|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|4/6|c.412-29C>T|||||| 22 39627630 . G C . . ANN=C|synonymous_variant|LOW|PDGFB|PDGFB|transcript|NM_002608.2|Coding|4/7|c.453C>G|p.Val151Val|1442/3377|453/726|151/241||,C|synonymous_variant|LOW|PDGFB|PDGFB|transcript|NM_033016.2|Coding|4/7|c.408C>G|p.Val136Val|445/2380|408/681|136/226|| 22 39627821 . T C . . ANN=C|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_002608.2|Coding|4/7|c.262A>G|p.Ile88Val|1251/3377|262/726|88/241||,C|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_033016.2|Coding|4/7|c.217A>G|p.Ile73Val|254/2380|217/681|73/226|| 22 39629406 . T C . . ANN=C|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|3/6|c.250+34A>G||||||,C|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|3/6|c.205+34A>G|||||| 22 39629415 . C A . . ANN=A|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|3/6|c.250+25G>T||||||,A|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|3/6|c.205+25G>T|||||| 22 39629418 . T C . . ANN=C|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|3/6|c.250+22A>G||||||,C|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|3/6|c.205+22A>G|||||| 22 39629478 . C T . . ANN=T|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_002608.2|Coding|3/7|c.212G>A|p.Gly71Asp|1201/3377|212/726|71/241||,T|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_033016.2|Coding|3/7|c.167G>A|p.Gly56Asp|204/2380|167/681|56/226|| 22 39629561 . G A . . ANN=A|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|2/6|c.161-32C>T||||||,A|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|2/6|c.116-32C>T|||||| 22 39629575 . C G . . ANN=G|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|2/6|c.161-46G>C||||||,G|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|2/6|c.116-46G>C|||||| 22 39631747 . C G . . ANN=G|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|2/6|c.160+36G>C||||||,G|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|2/6|c.115+36G>C|||||| 22 39631768 . G T . . ANN=T|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|2/6|c.160+15C>A||||||,T|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|2/6|c.115+15C>A|||||| 22 39631786 . C T . . ANN=T|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_002608.2|Coding|2/7|c.157G>A|p.Gly53Arg|1146/3377|157/726|53/241||,T|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_033016.2|Coding|2/7|c.112G>A|p.Gly38Arg|149/2380|112/681|38/226|| 22 39631788 . G A . . ANN=A|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_002608.2|Coding|2/7|c.155C>T|p.Pro52Leu|1144/3377|155/726|52/241||,A|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_033016.2|Coding|2/7|c.110C>T|p.Pro37Leu|147/2380|110/681|37/226|| 22 39636829 . A T . . ANN=T|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/6|c.63+3077T>A||||||,T|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_033016.2|Coding|1/6|c.18+31T>A|||||| 22 39636853 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PDGFB|PDGFB|transcript|NM_033016.2|Coding|1/6|c.18+7A>G||||||,C|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/6|c.63+3053A>G|||||| 22 39636923 . TGC T,TGCGCGC . . ANN=T|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/6|c.63+2981_63+2982delGC||||||,TGCGCGC|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/6|c.63+2980_63+2981insGCGC|||||| 22 39636924 . GCGCA G . . ANN=G|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/6|c.63+2978_63+2981delTGCG|||||| 22 39636926 . GCACA G,GCA,GCACACACA . . ANN=G|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/6|c.63+2976_63+2979delTGTG||||||,GCA|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/6|c.63+2976_63+2977delTG||||||,GCACACACA|intron_variant|MODIFIER|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/6|c.63+2975_63+2976insTGTG|||||| 22 39639934 . C A . . ANN=A|missense_variant|MODERATE|PDGFB|PDGFB|transcript|NM_002608.2|Coding|1/7|c.35G>T|p.Cys12Phe|1024/3377|35/726|12/241|| 22 39708899 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|10/10|c.*46T>C|||||46|,G|3_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|10/10|c.*46T>C|||||46| 22 39708926 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|10/10|c.*19C>T|||||19|,A|3_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|10/10|c.*19C>T|||||19| 22 39708965 . C T . . ANN=T|missense_variant|MODERATE|RPL3|RPL3|transcript|NM_000967.3|Coding|10/10|c.1192G>A|p.Ala398Thr|1260/1338|1192/1212|398/403||,T|missense_variant|MODERATE|RPL3|RPL3|transcript|NM_001033853.1|Coding|10/10|c.1045G>A|p.Ala349Thr|1113/1191|1045/1065|349/354|| 22 39708996 . GGA G . . ANN=G|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|9/9|c.1168-9_1168-8delTC||||||,G|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|9/9|c.1021-9_1021-8delTC|||||| 22 39709003 . G C . . ANN=C|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|9/9|c.1168-14C>G||||||,C|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|9/9|c.1021-14C>G|||||| 22 39709009 . G A . . ANN=A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|9/9|c.1168-20C>T||||||,A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|9/9|c.1021-20C>T|||||| 22 39709030 . G A . . ANN=A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|9/9|c.1168-41C>T||||||,A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|9/9|c.1021-41C>T|||||| 22 39709146 . G A . . ANN=A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|9/9|c.1167+50C>T||||||,A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|9/9|c.1020+50C>T|||||| 22 39709605 . G A . . ANN=A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|8/9|c.1047+34C>T||||||,A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|8/9|c.900+34C>T|||||| 22 39709748 . A G . . ANN=G|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|7/9|c.952-14T>C||||||,G|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|7/9|c.805-14T>C|||||| 22 39709751 . G A . . ANN=A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|7/9|c.952-17C>T||||||,A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|7/9|c.805-17C>T|||||| 22 39709759 . A ACAGGCCCAGCAC . . ANN=ACAGGCCCAGCAC|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|7/9|c.952-26_952-25insGTGCTGGGCCTG||||||,ACAGGCCCAGCAC|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|7/9|c.805-26_805-25insGTGCTGGGCCTG|||||| 22 39709776 . T C . . ANN=C|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|7/9|c.952-42A>G||||||,C|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|7/9|c.805-42A>G|||||| 22 39710062 . A G . . ANN=G|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|7/9|c.951+50T>C||||||,G|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|7/9|c.804+50T>C|||||| 22 39710104 . T TTAC . . ANN=TTAC|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|7/9|c.951+7_951+8insGTA||||||,TTAC|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|7/9|c.804+7_804+8insGTA|||||| 22 39710145 . G A . . ANN=A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|7/10|c.918C>T|p.Asp306Asp|986/1338|918/1212|306/403||,A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|7/10|c.771C>T|p.Asp257Asp|839/1191|771/1065|257/354|| 22 39710211 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|7/10|c.852T>C|p.Ile284Ile|920/1338|852/1212|284/403||,G|splice_region_variant&synonymous_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|7/10|c.705T>C|p.Ile235Ile|773/1191|705/1065|235/354|| 22 39710244 . G A . . ANN=A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|6/9|c.850-31C>T||||||,A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|6/9|c.703-31C>T|||||| 22 39710664 . C T . . ANN=T|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|6/9|c.849+27G>A||||||,T|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|6/9|c.702+27G>A|||||| 22 39710721 . G C . . ANN=C|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|6/10|c.819C>G|p.Gly273Gly|887/1338|819/1212|273/403||,C|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|6/10|c.672C>G|p.Gly224Gly|740/1191|672/1065|224/354|| 22 39710793 . G A . . ANN=A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|6/10|c.747C>T|p.Arg249Arg|815/1338|747/1212|249/403||,A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|6/10|c.600C>T|p.Arg200Arg|668/1191|600/1065|200/354|| 22 39710867 . A G . . ANN=G|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|5/9|c.689-16T>C||||||,G|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|5/9|c.542-16T>C|||||| 22 39711351 . A G . . ANN=G|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|5/9|c.688+23T>C||||||,G|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|5/9|c.541+23T>C|||||| 22 39711362 . C CTT . . ANN=CTT|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|5/9|c.688+11_688+12insAA||||||,CTT|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|5/9|c.541+11_541+12insAA|||||| 22 39711495 . A G . . ANN=G|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|5/10|c.567T>C|p.Thr189Thr|635/1338|567/1212|189/403||,G|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|5/10|c.420T>C|p.Thr140Thr|488/1191|420/1065|140/354|| 22 39711504 . G A . . ANN=A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|5/10|c.558C>T|p.Asn186Asn|626/1338|558/1212|186/403||,A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|5/10|c.411C>T|p.Asn137Asn|479/1191|411/1065|137/354|| 22 39711574 . G GAC . . ANN=GAC|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|4/9|c.502-15_502-14insGT||||||,GAC|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|4/9|c.385-45_385-44insGT|||||| 22 39712776 . G A . . ANN=A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|4/10|c.436C>T|p.Leu146Leu|504/1338|436/1212|146/403||,A|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|4/9|c.384+52C>T|||||| 22 39713419 . CAGCTCCCA C . . ANN=C|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|3/9|c.365+39_365+46delTGGGAGCT||||||,C|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|3/9|c.365+39_365+46delTGGGAGCT|||||| 22 39713638 . C CA . . ANN=CA|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|2/9|c.197-5_197-4insT||||||,CA|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|2/9|c.197-5_197-4insT|||||| 22 39714394 . T C . . ANN=C|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|2/9|c.196+11A>G||||||,C|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|2/9|c.196+11A>G|||||| 22 39714580 . G A . . ANN=A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|2/10|c.21C>T|p.Ser7Ser|89/1338|21/1212|7/403||,A|synonymous_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|2/10|c.21C>T|p.Ser7Ser|89/1191|21/1065|7/354|| 22 39714606 . G GA . . ANN=GA|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|1/9|c.4-10_4-9insT||||||,GA|intron_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|1/9|c.4-10_4-9insT|||||| 22 39715592 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|1/9|c.3+8T>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|1/9|c.3+8T>C|||||| 22 39715593 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_000967.3|Coding|1/9|c.3+7G>C||||||,G|splice_region_variant&intron_variant|LOW|RPL3|RPL3|transcript|NM_001033853.1|Coding|1/9|c.3+7G>C|||||| 22 39715606 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|1/10|c.-4C>T|||||4|,A|5_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|1/10|c.-4C>T|||||4| 22 39715608 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|1/10|c.-6G>A|||||6|,T|5_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|1/10|c.-6G>A|||||6| 22 39715639 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_000967.3|Coding|1/10|c.-37G>A|||||37|,T|5_prime_UTR_variant|MODIFIER|RPL3|RPL3|transcript|NM_001033853.1|Coding|1/10|c.-37G>A|||||37| 22 39760172 . G A . . ANN=A|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|1/3|c.100-10149G>A||||||,A|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|1/3|c.100-10149G>A|||||| 22 39760211 . A C . . ANN=C|missense_variant|MODERATE|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|1/4|c.12A>C|p.Leu4Phe|37/1303|12/579|4/192||,C|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|1/3|c.100-10110A>C||||||,C|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|1/3|c.100-10110A>C|||||| 22 39760267 . C A . . ANN=A|stop_gained|HIGH|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|1/4|c.68C>A|p.Ser23*|93/1303|68/579|23/192||,A|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|1/3|c.100-10054C>A||||||,A|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|1/3|c.100-10054C>A||||||;LOF=(SYNGR1|SYNGR1|3|0.33);NMD=(SYNGR1|SYNGR1|3|0.33) 22 39760275 . A G . . ANN=G|missense_variant|MODERATE|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|1/4|c.76A>G|p.Ser26Gly|101/1303|76/579|26/192||,G|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|1/3|c.100-10046A>G||||||,G|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|1/3|c.100-10046A>G|||||| 22 39760314 . T TTTAC . . ANN=TTTAC|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|1/3|c.100-10007_100-10006insTTAC||||||,TTTAC|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|1/3|c.100-10007_100-10006insTTAC||||||,TTTAC|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|1/3|c.102+13_102+14insTTAC|||||| 22 39760344 . C G . . ANN=G|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|1/3|c.100-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|1/3|c.100-9977C>G||||||,G|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|1/3|c.102+43C>G|||||| 22 39770380 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|2/4|c.159C>T|p.Ser53Ser|221/4438|159/702|53/233||,T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|2/4|c.159C>T|p.Ser53Ser|221/1337|159/576|53/191||,T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|2/4|c.162C>T|p.Ser54Ser|187/1303|162/579|54/192|| 22 39770500 . G A . . ANN=A|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|2/4|c.279G>A|p.Pro93Pro|341/4438|279/702|93/233||,A|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|2/4|c.279G>A|p.Pro93Pro|341/1337|279/576|93/191||,A|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|2/4|c.282G>A|p.Pro94Pro|307/1303|282/579|94/192|| 22 39770507 . A G . . ANN=G|missense_variant|MODERATE|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|2/4|c.286A>G|p.Ser96Gly|348/4438|286/702|96/233||,G|missense_variant|MODERATE|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|2/4|c.286A>G|p.Ser96Gly|348/1337|286/576|96/191||,G|missense_variant|MODERATE|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|2/4|c.289A>G|p.Ser97Gly|314/1303|289/579|97/192|| 22 39770512 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|2/4|c.291C>T|p.Ser97Ser|353/4438|291/702|97/233||,T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|2/4|c.291C>T|p.Ser97Ser|353/1337|291/576|97/191||,T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|2/4|c.294C>T|p.Ser98Ser|319/1303|294/579|98/192|| 22 39770597 . A G . . ANN=G|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|2/3|c.337+39A>G||||||,G|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|2/3|c.337+39A>G||||||,G|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|2/3|c.340+39A>G|||||| 22 39772029 . T C . . ANN=C|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|2/3|c.338-28T>C||||||,C|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|2/3|c.338-28T>C||||||,C|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|2/3|c.341-28T>C|||||| 22 39772051 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|2/3|c.338-6C>T||||||,T|splice_region_variant&intron_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|2/3|c.338-6C>T||||||,T|splice_region_variant&intron_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|2/3|c.341-6C>T|||||| 22 39772094 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|3/4|c.375C>T|p.Tyr125Tyr|437/4438|375/702|125/233||,T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|3/4|c.375C>T|p.Tyr125Tyr|437/1337|375/576|125/191||,T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|3/4|c.378C>T|p.Tyr126Tyr|403/1303|378/579|126/192|| 22 39772109 . G A . . ANN=A|stop_gained|HIGH|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|3/4|c.390G>A|p.Trp130*|452/4438|390/702|130/233||,A|stop_gained|HIGH|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|3/4|c.390G>A|p.Trp130*|452/1337|390/576|130/191||,A|stop_gained|HIGH|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|3/4|c.393G>A|p.Trp131*|418/1303|393/579|131/192||;LOF=(SYNGR1|SYNGR1|3|1.00);NMD=(SYNGR1|SYNGR1|3|1.00) 22 39772181 . C G . . ANN=G|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|3/4|c.462C>G|p.Ser154Ser|524/4438|462/702|154/233||,G|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|3/4|c.462C>G|p.Ser154Ser|524/1337|462/576|154/191||,G|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|3/4|c.465C>G|p.Ser155Ser|490/1303|465/579|155/192|| 22 39772220 . G C . . ANN=C|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|3/3|c.483+18G>C||||||,C|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|3/3|c.483+18G>C||||||,C|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|3/3|c.486+18G>C|||||| 22 39773624 . G A . . ANN=A|missense_variant|MODERATE|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|4/4|c.505G>A|p.Val169Met|567/1337|505/576|169/191||,A|missense_variant|MODERATE|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|4/4|c.508G>A|p.Val170Met|533/1303|508/579|170/192||,A|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|3/3|c.483+1422G>A|||||| 22 39773740 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145731.3|Coding|4/4|c.*45C>T|||||45|,T|3_prime_UTR_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_145738.2|Coding|4/4|c.*45C>T|||||45|,T|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|3/3|c.483+1538C>T|||||| 22 39777666 . C T . . ANN=T|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|3/3|c.484-35C>T|||||| 22 39777680 . C T . . ANN=T|intron_variant|MODIFIER|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|3/3|c.484-21C>T|||||| 22 39777788 . G C . . ANN=C|missense_variant|MODERATE|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|4/4|c.571G>C|p.Asp191His|633/4438|571/702|191/233|| 22 39777821 . C CCCA . . ANN=CAC|disruptive_inframe_insertion|MODERATE|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|4/4|c.606_608dupCAC|p.Thr203dup|671/4438|609/702|203/233||INFO_REALIGN_3_PRIME 22 39777822 . C CCAA . . ANN=ACA|disruptive_inframe_insertion|MODERATE|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|4/4|c.607_608insACA|p.Pro202_Thr203insAsn|670/4438|608/702|203/233||INFO_REALIGN_3_PRIME 22 39777824 . A AACC . . ANN=AACC|disruptive_inframe_insertion|MODERATE|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|4/4|c.607_608insACC|p.Thr203delinsAsnPro|670/4438|608/702|203/233|| 22 39777880 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|4/4|c.663C>T|p.Phe221Phe|725/4438|663/702|221/233|| 22 39777886 . C T . . ANN=T|synonymous_variant|LOW|SYNGR1|SYNGR1|transcript|NM_004711.4|Coding|4/4|c.669C>T|p.Thr223Thr|731/4438|669/702|223/233|| 22 39795772 . C CG . . ANN=G|5_prime_UTR_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|1/11|c.-32dupG|||||31|INFO_REALIGN_3_PRIME,G|5_prime_UTR_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|1/11|c.-32dupG|||||31|INFO_REALIGN_3_PRIME 22 39795800 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|1/11|c.-8C>T|||||8|,T|5_prime_UTR_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|1/11|c.-8C>T|||||8| 22 39795847 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|1/10|c.33+7A>G||||||,G|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|1/10|c.33+7A>G|||||| 22 39795852 . G A . . ANN=A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|1/10|c.33+12G>A||||||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|1/10|c.33+12G>A|||||| 22 39795855 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|1/10|c.33+15C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|1/10|c.33+15C>T|||||| 22 39795866 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|1/10|c.33+26C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|1/10|c.33+26C>T|||||| 22 39810972 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|1/10|c.34-39C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|1/10|c.34-39C>T|||||| 22 39810974 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|1/10|c.34-37C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|1/10|c.34-37C>T|||||| 22 39811081 . G A . . ANN=A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|2/11|c.104G>A|p.Arg35His|153/3224|104/1515|35/504||,A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|2/11|c.104G>A|p.Arg35His|153/1994|104/1389|35/462|| 22 39811120 . C T . . ANN=T|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|2/11|c.143C>T|p.Pro48Leu|192/3224|143/1515|48/504||,T|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|2/11|c.143C>T|p.Pro48Leu|192/1994|143/1389|48/462|| 22 39811185 . T A . . ANN=A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|2/10|c.170+38T>A||||||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|2/10|c.170+38T>A|||||| 22 39811485 . C G . . ANN=G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|2/10|c.171-20C>G||||||,G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|2/10|c.171-20C>G|||||| 22 39811541 . C T . . ANN=T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|3/11|c.207C>T|p.Asn69Asn|256/3224|207/1515|69/504||,T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|3/11|c.207C>T|p.Asn69Asn|256/1994|207/1389|69/462|| 22 39811589 . C T . . ANN=T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|3/11|c.255C>T|p.Ser85Ser|304/3224|255/1515|85/504||,T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|3/11|c.255C>T|p.Ser85Ser|304/1994|255/1389|85/462|| 22 39811645 . G A . . ANN=A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|3/11|c.311G>A|p.Arg104His|360/3224|311/1515|104/504||,A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|3/11|c.311G>A|p.Arg104His|360/1994|311/1389|104/462|| 22 39811687 . A T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|3/10|c.324+29A>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|3/10|c.324+29A>T|||||| 22 39811704 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|3/10|c.324+46C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|3/10|c.324+46C>T|||||| 22 39812769 . C G . . ANN=G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|3/10|c.325-27C>G||||||,G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|3/10|c.325-27C>G|||||| 22 39812791 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|3/10|c.325-5C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|3/10|c.325-5C>T|||||| 22 39813705 . G A . . ANN=A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|4/10|c.412-11G>A||||||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|4/10|c.412-11G>A|||||| 22 39813741 . C T . . ANN=T|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|5/11|c.437C>T|p.Pro146Leu|486/3224|437/1515|146/504||,T|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|5/11|c.437C>T|p.Pro146Leu|486/1994|437/1389|146/462|| 22 39813759 . T C . . ANN=C|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|5/11|c.455T>C|p.Leu152Pro|504/3224|455/1515|152/504||,C|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|5/11|c.455T>C|p.Leu152Pro|504/1994|455/1389|152/462|| 22 39813793 . G A . . ANN=A|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|5/11|c.489G>A|p.Ser163Ser|538/3224|489/1515|163/504||,A|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|5/11|c.489G>A|p.Ser163Ser|538/1994|489/1389|163/462|| 22 39813820 . C T . . ANN=T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|5/11|c.516C>T|p.Val172Val|565/3224|516/1515|172/504||,T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|5/11|c.516C>T|p.Val172Val|565/1994|516/1389|172/462|| 22 39813844 . C T . . ANN=T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|5/11|c.540C>T|p.Val180Val|589/3224|540/1515|180/504||,T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|5/11|c.540C>T|p.Val180Val|589/1994|540/1389|180/462|| 22 39814746 . G A . . ANN=A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|6/11|c.560G>A|p.Arg187His|609/3224|560/1515|187/504||,A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|6/11|c.560G>A|p.Arg187His|609/1994|560/1389|187/462|| 22 39814765 . G C . . ANN=C|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|6/11|c.579G>C|p.Ser193Ser|628/3224|579/1515|193/504||,C|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|6/11|c.579G>C|p.Ser193Ser|628/1994|579/1389|193/462|| 22 39814843 . G A . . ANN=A|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|6/11|c.657G>A|p.Ser219Ser|706/3224|657/1515|219/504||,A|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|6/11|c.657G>A|p.Ser219Ser|706/1994|657/1389|219/462|| 22 39814872 . G A . . ANN=A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|6/10|c.664+22G>A||||||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|6/10|c.664+22G>A|||||| 22 39814886 . A G . . ANN=G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|6/10|c.664+36A>G||||||,G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|6/10|c.664+36A>G|||||| 22 39815516 . CTCCG C . . ANN=C|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|6/10|c.665-7_665-4delTCCG||||||,C|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|6/10|c.665-7_665-4delTCCG|||||| 22 39815519 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|6/10|c.665-5C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|6/10|c.665-5C>T|||||| 22 39815564 . T G . . ANN=G|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|7/11|c.705T>G|p.Cys235Trp|754/3224|705/1515|235/504||,G|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|7/11|c.705T>G|p.Cys235Trp|754/1994|705/1389|235/462|| 22 39815646 . G A . . ANN=A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|7/10|c.776+11G>A||||||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|7/10|c.776+11G>A|||||| 22 39815651 . G A . . ANN=A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|7/10|c.776+16G>A||||||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|7/10|c.776+16G>A|||||| 22 39822659 . C A . . ANN=A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|8/10|c.922-49C>A||||||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|8/10|c.922-49C>A|||||| 22 39822665 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|8/10|c.922-43C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|8/10|c.922-43C>T|||||| 22 39822691 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|8/10|c.922-17C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|8/10|c.922-17C>T|||||| 22 39822699 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|8/10|c.922-9C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|8/10|c.922-9C>T|||||| 22 39822701 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|8/10|c.922-7C>T||||||,T|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|8/10|c.922-7C>T|||||| 22 39822748 . C A . . ANN=A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|9/11|c.962C>A|p.Thr321Asn|1011/3224|962/1515|321/504||,A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|9/11|c.962C>A|p.Thr321Asn|1011/1994|962/1389|321/462|| 22 39822761 . A G . . ANN=G|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|9/11|c.975A>G|p.Ala325Ala|1024/3224|975/1515|325/504||,G|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|9/11|c.975A>G|p.Ala325Ala|1024/1994|975/1389|325/462|| 22 39822851 . C T . . ANN=T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|9/11|c.1065C>T|p.His355His|1114/3224|1065/1515|355/504||,T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|9/11|c.1065C>T|p.His355His|1114/1994|1065/1389|355/462|| 22 39822889 . C T . . ANN=T|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|9/11|c.1103C>T|p.Pro368Leu|1152/3224|1103/1515|368/504||,T|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|9/11|c.1103C>T|p.Pro368Leu|1152/1994|1103/1389|368/462|| 22 39822938 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|9/10|c.1144+8T>C||||||,C|splice_region_variant&intron_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|9/10|c.1144+8T>C|||||| 22 39822949 . C G . . ANN=G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|9/10|c.1144+19C>G||||||,G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|9/10|c.1144+19C>G|||||| 22 39822972 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|9/10|c.1144+42C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|9/10|c.1144+42C>T|||||| 22 39822980 . C T . . ANN=T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|9/10|c.1144+50C>T||||||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|9/10|c.1144+50C>T|||||| 22 39824055 . G C . . ANN=C|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|10/11|c.1174G>C|p.Val392Leu|1223/3224|1174/1515|392/504||,C|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_153497.2|Coding|10/11|c.1174G>C|p.Val392Leu|1223/1994|1174/1389|392/462|| 22 39824171 . C G . . ANN=G|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|10/11|c.1290C>G|p.Ala430Ala|1339/3224|1290/1515|430/504||,G|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_153497.2|Coding|10/11|c.1290C>G|p.Ala430Ala|1339/1994|1290/1389|430/462|| 22 39826056 . G A . . ANN=A|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|11/11|c.1344G>A|p.Thr448Thr|1393/3224|1344/1515|448/504||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|10/10|c.1307+1868G>A|||||| 22 39826100 . G A . . ANN=A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|11/11|c.1388G>A|p.Arg463His|1437/3224|1388/1515|463/504||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|10/10|c.1307+1912G>A|||||| 22 39826104 . C T . . ANN=T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|11/11|c.1392C>T|p.Ser464Ser|1441/3224|1392/1515|464/504||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|10/10|c.1307+1916C>T|||||| 22 39826111 . G A . . ANN=A|missense_variant|MODERATE|TAB1|TAB1|transcript|NM_006116.2|Coding|11/11|c.1399G>A|p.Ala467Thr|1448/3224|1399/1515|467/504||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|10/10|c.1307+1923G>A|||||| 22 39826125 . G A . . ANN=A|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|11/11|c.1413G>A|p.Pro471Pro|1462/3224|1413/1515|471/504||,A|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|10/10|c.1307+1937G>A|||||| 22 39826137 . C T . . ANN=T|synonymous_variant|LOW|TAB1|TAB1|transcript|NM_006116.2|Coding|11/11|c.1425C>T|p.Asp475Asp|1474/3224|1425/1515|475/504||,T|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|10/10|c.1307+1949C>T|||||| 22 39826250 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|TAB1|TAB1|transcript|NM_006116.2|Coding|11/11|c.*23A>G|||||23|,G|intron_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|10/10|c.1307+2062A>G|||||| 22 39832609 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TAB1|TAB1|transcript|NM_153497.2|Coding|11/11|c.*33G>A|||||33|,A|non_coding_exon_variant|MODIFIER|LOC100506472|LOC100506472|transcript|NR_040535.1|Noncoding|3/3|n.3042G>A|||||| 22 39883344 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|1/1|c.-1-8T>C||||||,C|5_prime_UTR_variant|MODIFIER|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.-9T>C|||||9| 22 39883384 . T C . . ANN=C|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.32T>C|p.Met11Thr|156/4971|32/1602|11/533||,C|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.32T>C|p.Met11Thr|271/5086|32/1602|11/533|| 22 39883434 . A T . . ANN=T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.82A>T|p.Thr28Ser|206/4971|82/1602|28/533||,T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.82A>T|p.Thr28Ser|321/5086|82/1602|28/533|| 22 39883448 . C CA . . ANN=A|frameshift_variant|HIGH|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.97dupA|p.Thr33fs|222/4971|98/1602|33/533||INFO_REALIGN_3_PRIME,A|frameshift_variant|HIGH|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.97dupA|p.Thr33fs|337/5086|98/1602|33/533||INFO_REALIGN_3_PRIME;LOF=(MGAT3|MGAT3|2|1.00) 22 39883517 . G T . . ANN=T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.165G>T|p.Pro55Pro|289/4971|165/1602|55/533||,T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.165G>T|p.Pro55Pro|404/5086|165/1602|55/533|| 22 39883525 . C T . . ANN=T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.173C>T|p.Pro58Leu|297/4971|173/1602|58/533||,T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.173C>T|p.Pro58Leu|412/5086|173/1602|58/533|| 22 39883564 . G A . . ANN=A|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.212G>A|p.Arg71His|336/4971|212/1602|71/533||,A|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.212G>A|p.Arg71His|451/5086|212/1602|71/533|| 22 39883604 . G T . . ANN=T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.252G>T|p.Leu84Leu|376/4971|252/1602|84/533||,T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.252G>T|p.Leu84Leu|491/5086|252/1602|84/533|| 22 39883605 . C T . . ANN=T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.253C>T|p.Pro85Ser|377/4971|253/1602|85/533||,T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.253C>T|p.Pro85Ser|492/5086|253/1602|85/533|| 22 39883629 . C G . . ANN=G|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.277C>G|p.Leu93Val|401/4971|277/1602|93/533||,G|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.277C>G|p.Leu93Val|516/5086|277/1602|93/533|| 22 39883736 . G C . . ANN=C|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.384G>C|p.Pro128Pro|508/4971|384/1602|128/533||,C|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.384G>C|p.Pro128Pro|623/5086|384/1602|128/533|| 22 39883927 . A C . . ANN=C|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.575A>C|p.Asn192Thr|699/4971|575/1602|192/533||,C|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.575A>C|p.Asn192Thr|814/5086|575/1602|192/533|| 22 39884279 . C T . . ANN=T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.927C>T|p.Pro309Pro|1051/4971|927/1602|309/533||,T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.927C>T|p.Pro309Pro|1166/5086|927/1602|309/533|| 22 39884315 . C T . . ANN=T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.963C>T|p.Ile321Ile|1087/4971|963/1602|321/533||,T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.963C>T|p.Ile321Ile|1202/5086|963/1602|321/533|| 22 39884357 . C G . . ANN=G|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1005C>G|p.Gly335Gly|1129/4971|1005/1602|335/533||,G|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1005C>G|p.Gly335Gly|1244/5086|1005/1602|335/533|| 22 39884393 . G A . . ANN=A|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1041G>A|p.Ser347Ser|1165/4971|1041/1602|347/533||,A|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1041G>A|p.Ser347Ser|1280/5086|1041/1602|347/533|| 22 39884498 . C G . . ANN=G|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1146C>G|p.Arg382Arg|1270/4971|1146/1602|382/533||,G|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1146C>G|p.Arg382Arg|1385/5086|1146/1602|382/533|| 22 39884582 . C T . . ANN=T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1230C>T|p.Ser410Ser|1354/4971|1230/1602|410/533||,T|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1230C>T|p.Ser410Ser|1469/5086|1230/1602|410/533|| 22 39884623 . C A . . ANN=A|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1271C>A|p.Thr424Lys|1395/4971|1271/1602|424/533||,A|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1271C>A|p.Thr424Lys|1510/5086|1271/1602|424/533|| 22 39884847 . G C . . ANN=C|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1495G>C|p.Asp499His|1619/4971|1495/1602|499/533||,C|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1495G>C|p.Asp499His|1734/5086|1495/1602|499/533|| 22 39884878 . C T . . ANN=T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1526C>T|p.Ala509Val|1650/4971|1526/1602|509/533||,T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1526C>T|p.Ala509Val|1765/5086|1526/1602|509/533|| 22 39884906 . C G . . ANN=G|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1554C>G|p.Pro518Pro|1678/4971|1554/1602|518/533||,G|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1554C>G|p.Pro518Pro|1793/5086|1554/1602|518/533|| 22 39884910 . G A . . ANN=A|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1558G>A|p.Gly520Arg|1682/4971|1558/1602|520/533||,A|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1558G>A|p.Gly520Arg|1797/5086|1558/1602|520/533|| 22 39884925 . C T . . ANN=T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1573C>T|p.Arg525Trp|1697/4971|1573/1602|525/533||,T|missense_variant|MODERATE|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1573C>T|p.Arg525Trp|1812/5086|1573/1602|525/533|| 22 39884942 . G A . . ANN=A|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.1590G>A|p.Glu530Glu|1714/4971|1590/1602|530/533||,A|synonymous_variant|LOW|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.1590G>A|p.Glu530Glu|1829/5086|1590/1602|530/533|| 22 39884987 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MGAT3|MGAT3|transcript|NM_001098270.1|Coding|1/1|c.*33C>T|||||33|,T|3_prime_UTR_variant|MODIFIER|MGAT3|MGAT3|transcript|NM_002409.4|Coding|2/2|c.*33C>T|||||33| 22 39907368 . G A . . ANN=A|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|3/6|c.69G>A|p.Val23Val|567/5699|69/1392|23/463|| 22 39907422 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|3/6|c.123C>T|p.Ile41Ile|621/5699|123/1392|41/463|| 22 39907906 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|4/6|c.197C>T|p.Ser66Leu|695/5699|197/1392|66/463|| 22 39907916 . G A . . ANN=A|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|4/6|c.207G>A|p.Arg69Arg|705/5699|207/1392|69/463|| 22 39907917 . A T . . ANN=T|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|4/6|c.208A>T|p.Ser70Cys|706/5699|208/1392|70/463|| 22 39907934 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|4/6|c.225C>T|p.Asn75Asn|723/5699|225/1392|75/463|| 22 39907941 . G C . . ANN=C|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|4/6|c.232G>C|p.Gly78Arg|730/5699|232/1392|78/463|| 22 39907975 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|4/6|c.266C>T|p.Thr89Met|764/5699|266/1392|89/463|| 22 39908249 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|5/6|c.335C>T|p.Pro112Leu|833/5699|335/1392|112/463|| 22 39908255 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|5/6|c.341G>A|p.Arg114Gln|839/5699|341/1392|114/463|| 22 39908419 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|5/6|c.505C>T|p.Arg169Trp|1003/5699|505/1392|169/463|| 22 39909600 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.664G>A|p.Asp222Asn|1162/5699|664/1392|222/463|| 22 39909614 . T C . . ANN=C|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.678T>C|p.Asn226Asn|1176/5699|678/1392|226/463|| 22 39909722 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.786C>T|p.Val262Val|1284/5699|786/1392|262/463|| 22 39909726 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.790G>A|p.Asp264Asn|1288/5699|790/1392|264/463|| 22 39909787 . A G . . ANN=G|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.851A>G|p.Asp284Gly|1349/5699|851/1392|284/463|| 22 39909821 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.885C>T|p.Ala295Ala|1383/5699|885/1392|295/463|| 22 39909836 . G A . . ANN=A|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.900G>A|p.Val300Val|1398/5699|900/1392|300/463|| 22 39909847 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.911G>A|p.Arg304His|1409/5699|911/1392|304/463|| 22 39909907 . T C . . ANN=C|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.971T>C|p.Val324Ala|1469/5699|971/1392|324/463|| 22 39909922 . G A . . ANN=A|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.986G>A|p.Arg329Gln|1484/5699|986/1392|329/463|| 22 39909963 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.1027C>T|p.Pro343Ser|1525/5699|1027/1392|343/463|| 22 39909968 . G A . . ANN=A|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.1032G>A|p.Ala344Ala|1530/5699|1032/1392|344/463|| 22 39910064 . T A . . ANN=A|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.1128T>A|p.Ala376Ala|1626/5699|1128/1392|376/463|| 22 39910106 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.1170C>T|p.Leu390Leu|1668/5699|1170/1392|390/463|| 22 39910113 . G C . . ANN=C|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.1177G>C|p.Ala393Pro|1675/5699|1177/1392|393/463|| 22 39910228 . A G . . ANN=G|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.1292A>G|p.Lys431Arg|1790/5699|1292/1392|431/463|| 22 39910268 . C T . . ANN=T|synonymous_variant|LOW|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.1332C>T|p.Asp444Asp|1830/5699|1332/1392|444/463|| 22 39910324 . C T . . ANN=T|missense_variant|MODERATE|MIEF1|MIEF1|transcript|NM_019008.4|Coding|6/6|c.1388C>T|p.Thr463Met|1886/5699|1388/1392|463/463|| 22 39917515 . A C . . ANN=C|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|1/2|c.65A>C|p.Gln22Pro|952/2027|65/1056|22/351||,C|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|2/3|c.65A>C|p.Gln22Pro|345/1420|65/1056|22/351|| 22 39917584 . A T . . ANN=T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|1/2|c.134A>T|p.Lys45Ile|1021/2027|134/1056|45/351||,T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|2/3|c.134A>T|p.Lys45Ile|414/1420|134/1056|45/351|| 22 39917587 . C T . . ANN=T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|1/2|c.137C>T|p.Pro46Leu|1024/2027|137/1056|46/351||,T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|2/3|c.137C>T|p.Pro46Leu|417/1420|137/1056|46/351|| 22 39917725 . C T . . ANN=T|intron_variant|MODIFIER|ATF4|ATF4|transcript|NM_001675.4|Coding|1/1|c.226+49C>T||||||,T|intron_variant|MODIFIER|ATF4|ATF4|transcript|NM_182810.2|Coding|2/2|c.226+49C>T|||||| 22 39917753 . G T . . ANN=T|intron_variant|MODIFIER|ATF4|ATF4|transcript|NM_001675.4|Coding|1/1|c.227-25G>T||||||,T|intron_variant|MODIFIER|ATF4|ATF4|transcript|NM_182810.2|Coding|2/2|c.227-25G>T|||||| 22 39917768 . TG T . . ANN=T|intron_variant|MODIFIER|ATF4|ATF4|transcript|NM_001675.4|Coding|1/1|c.227-9delG||||||,T|intron_variant|MODIFIER|ATF4|ATF4|transcript|NM_182810.2|Coding|2/2|c.227-9delG|||||| 22 39917791 . C T . . ANN=T|synonymous_variant|LOW|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.240C>T|p.Ser80Ser|1127/2027|240/1056|80/351||,T|synonymous_variant|LOW|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.240C>T|p.Ser80Ser|520/1420|240/1056|80/351|| 22 39917944 . T C . . ANN=C|synonymous_variant|LOW|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.393T>C|p.Asn131Asn|1280/2027|393/1056|131/351||,C|synonymous_variant|LOW|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.393T>C|p.Asn131Asn|673/1420|393/1056|131/351|| 22 39917952 . C T . . ANN=T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.401C>T|p.Pro134Leu|1288/2027|401/1056|134/351||,T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.401C>T|p.Pro134Leu|681/1420|401/1056|134/351|| 22 39917955 . C T . . ANN=T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.404C>T|p.Pro135Leu|1291/2027|404/1056|135/351||,T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.404C>T|p.Pro135Leu|684/1420|404/1056|135/351|| 22 39917960 . A T . . ANN=T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.409A>T|p.Thr137Ser|1296/2027|409/1056|137/351||,T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.409A>T|p.Thr137Ser|689/1420|409/1056|137/351|| 22 39918036 . C T . . ANN=T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.485C>T|p.Pro162Leu|1372/2027|485/1056|162/351||,T|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.485C>T|p.Pro162Leu|765/1420|485/1056|162/351|| 22 39918057 . T A . . ANN=A|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.506T>A|p.Val169Asp|1393/2027|506/1056|169/351||,A|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.506T>A|p.Val169Asp|786/1420|506/1056|169/351|| 22 39918323 . C G . . ANN=G|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.772C>G|p.Pro258Ala|1659/2027|772/1056|258/351||,G|missense_variant|MODERATE|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.772C>G|p.Pro258Ala|1052/1420|772/1056|258/351|| 22 39918625 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.*18C>T|||||18|,T|3_prime_UTR_variant|MODIFIER|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.*18C>T|||||18| 22 39918642 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ATF4|ATF4|transcript|NM_001675.4|Coding|2/2|c.*35A>G|||||35|,G|3_prime_UTR_variant|MODIFIER|ATF4|ATF4|transcript|NM_182810.2|Coding|3/3|c.*35A>G|||||35| 22 39925564 . T G . . ANN=G|missense_variant|MODERATE|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|4/4|c.344A>C|p.Lys115Thr|461/927|344/411|115/136|| 22 39925565 . T C . . ANN=C|missense_variant|MODERATE|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|4/4|c.343A>G|p.Lys115Glu|460/927|343/411|115/136|| 22 39925642 . G C . . ANN=C|intron_variant|MODIFIER|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|3/3|c.280-14C>G|||||| 22 39925797 . G A . . ANN=A|intron_variant|MODIFIER|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|3/3|c.279+28C>T|||||| 22 39925806 . T C . . ANN=C|intron_variant|MODIFIER|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|3/3|c.279+19A>G|||||| 22 39925840 . C T . . ANN=T|synonymous_variant|LOW|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|3/4|c.264G>A|p.Glu88Glu|381/927|264/411|88/136|| 22 39925898 . C T . . ANN=T|missense_variant|MODERATE|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|3/4|c.206G>A|p.Arg69Gln|323/927|206/411|69/136|| 22 39925958 . C T . . ANN=T|intron_variant|MODIFIER|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|2/3|c.182-36G>A|||||| 22 39925960 . C T . . ANN=T|intron_variant|MODIFIER|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|2/3|c.182-38G>A|||||| 22 39928516 . G A . . ANN=A|missense_variant|MODERATE|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|2/4|c.65C>T|p.Pro22Leu|182/927|65/411|22/136|| 22 39928517 . G A . . ANN=A|missense_variant|MODERATE|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|2/4|c.64C>T|p.Pro22Ser|181/927|64/411|22/136|| 22 39928547 . G A . . ANN=A|intron_variant|MODIFIER|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|1/3|c.53-19C>T|||||| 22 39928558 . G A . . ANN=A|intron_variant|MODIFIER|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|1/3|c.53-30C>T|||||| 22 39928569 . G A . . ANN=A|intron_variant|MODIFIER|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|1/3|c.53-41C>T|||||| 22 39928738 . G A . . ANN=A|synonymous_variant|LOW|RPS19BP1|RPS19BP1|transcript|NM_194326.2|Coding|1/4|c.6C>T|p.Ser2Ser|123/927|6/411|2/136|| 22 39966777 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|1/37|c.20C>T|p.Pro7Leu|20/10002|20/6672|7/2223||,T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|1/36|c.20C>T|p.Pro7Leu|20/9897|20/6567|7/2188|| 22 39966856 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|1/37|c.99C>T|p.Ser33Ser|99/10002|99/6672|33/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|1/36|c.99C>T|p.Ser33Ser|99/9897|99/6567|33/2188|| 22 39994293 . C CGCCCT . . ANN=CGCCCT|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|2/36|c.348+26_348+27insGCCCT||||||,CGCCCT|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|2/35|c.348+26_348+27insGCCCT|||||| 22 39996692 . T C . . ANN=C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|3/36|c.482+34T>C||||||,C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|3/35|c.482+34T>C|||||| 22 40015321 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|4/37|c.489C>T|p.Val163Val|489/10002|489/6672|163/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|4/36|c.489C>T|p.Val163Val|489/9897|489/6567|163/2188|| 22 40030520 . T C . . ANN=C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|4/36|c.581-50T>C||||||,C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|4/35|c.581-50T>C|||||| 22 40030565 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|4/36|c.581-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|4/35|c.581-5C>T|||||| 22 40030685 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|5/37|c.696G>A|p.Ala232Ala|696/10002|696/6672|232/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|5/36|c.696G>A|p.Ala232Ala|696/9897|696/6567|232/2188|| 22 40030766 . A G . . ANN=G|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|5/36|c.740+37A>G||||||,G|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|5/35|c.740+37A>G|||||| 22 40036825 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|5/36|c.741-47G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|5/35|c.741-47G>A|||||| 22 40036908 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|6/37|c.777G>A|p.Pro259Pro|777/10002|777/6672|259/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|6/36|c.777G>A|p.Pro259Pro|777/9897|777/6567|259/2188|| 22 40036950 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|6/37|c.819C>T|p.Gly273Gly|819/10002|819/6672|273/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|6/36|c.819C>T|p.Gly273Gly|819/9897|819/6567|273/2188|| 22 40036959 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|6/37|c.828G>A|p.Gly276Gly|828/10002|828/6672|276/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|6/36|c.828G>A|p.Gly276Gly|828/9897|828/6567|276/2188|| 22 40037036 . A G . . ANN=G|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|6/37|c.905A>G|p.Asp302Gly|905/10002|905/6672|302/2223||,G|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|6/36|c.905A>G|p.Asp302Gly|905/9897|905/6567|302/2188|| 22 40037051 . G A . . ANN=A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|6/37|c.920G>A|p.Arg307His|920/10002|920/6672|307/2223||,A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|6/36|c.920G>A|p.Arg307His|920/9897|920/6567|307/2188|| 22 40037222 . T C . . ANN=C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|6/36|c.1056+35T>C||||||,C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|6/35|c.1056+35T>C|||||| 22 40038776 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|6/36|c.1057-26G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|6/35|c.1057-26G>A|||||| 22 40038911 . C G . . ANN=G|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|7/36|c.1149+17C>G||||||,G|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|7/35|c.1149+17C>G|||||| 22 40042711 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|8/37|c.1287C>T|p.Ala429Ala|1287/10002|1287/6672|429/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|8/36|c.1287C>T|p.Ala429Ala|1287/9897|1287/6567|429/2188|| 22 40042714 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|8/37|c.1290G>A|p.Glu430Glu|1290/10002|1290/6672|430/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|8/36|c.1290G>A|p.Glu430Glu|1290/9897|1290/6567|430/2188|| 22 40042720 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|8/37|c.1296C>T|p.Gly432Gly|1296/10002|1296/6672|432/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|8/36|c.1296C>T|p.Gly432Gly|1296/9897|1296/6567|432/2188|| 22 40042840 . G T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|8/37|c.1416G>T|p.Pro472Pro|1416/10002|1416/6672|472/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|8/36|c.1416G>T|p.Pro472Pro|1416/9897|1416/6567|472/2188|| 22 40043812 . A G . . ANN=G|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|8/36|c.1463-15A>G||||||,G|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|8/35|c.1462+926A>G|||||| 22 40043867 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|9/37|c.1503C>T|p.Leu501Leu|1503/10002|1503/6672|501/2223||,T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|8/35|c.1462+981C>T|||||| 22 40043877 . C A . . ANN=A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|9/37|c.1513C>A|p.His505Asn|1513/10002|1513/6672|505/2223||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|8/35|c.1462+991C>A|||||| 22 40043909 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|9/37|c.1545T>C|p.Pro515Pro|1545/10002|1545/6672|515/2223||,C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|8/35|c.1462+1023T>C|||||| 22 40045537 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|10/37|c.1599G>A|p.Ala533Ala|1599/10002|1599/6672|533/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|9/36|c.1494G>A|p.Ala498Ala|1494/9897|1494/6567|498/2188|| 22 40045588 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|10/37|c.1650C>T|p.Pro550Pro|1650/10002|1650/6672|550/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|9/36|c.1545C>T|p.Pro515Pro|1545/9897|1545/6567|515/2188|| 22 40045654 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|10/37|c.1716G>A|p.Ser572Ser|1716/10002|1716/6672|572/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|9/36|c.1611G>A|p.Ser537Ser|1611/9897|1611/6567|537/2188|| 22 40045685 . G A . . ANN=A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|10/37|c.1747G>A|p.Ala583Thr|1747/10002|1747/6672|583/2223||,A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|9/36|c.1642G>A|p.Ala548Thr|1642/9897|1642/6567|548/2188|| 22 40045718 . G T . . ANN=T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|10/37|c.1780G>T|p.Ala594Ser|1780/10002|1780/6672|594/2223||,T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|9/36|c.1675G>T|p.Ala559Ser|1675/9897|1675/6567|559/2188|| 22 40045841 . G C . . ANN=C|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|10/37|c.1903G>C|p.Gly635Arg|1903/10002|1903/6672|635/2223||,C|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|9/36|c.1798G>C|p.Gly600Arg|1798/9897|1798/6567|600/2188|| 22 40045915 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|10/37|c.1977C>T|p.Ile659Ile|1977/10002|1977/6672|659/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|9/36|c.1872C>T|p.Ile624Ile|1872/9897|1872/6567|624/2188|| 22 40045924 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|10/37|c.1986C>T|p.His662His|1986/10002|1986/6672|662/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|9/36|c.1881C>T|p.His627His|1881/9897|1881/6567|627/2188|| 22 40054285 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|11/37|c.2121C>T|p.Phe707Phe|2121/10002|2121/6672|707/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|10/36|c.2016C>T|p.Phe672Phe|2016/9897|2016/6567|672/2188|| 22 40054335 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|11/36|c.2144+27G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|10/35|c.2039+27G>A|||||| 22 40054347 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|11/36|c.2144+39G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|10/35|c.2039+39G>A|||||| 22 40054907 . T A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|11/36|c.2145-29T>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|10/35|c.2040-29T>A|||||| 22 40054925 . C T . . ANN=T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|11/36|c.2145-11C>T||||||,T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|10/35|c.2040-11C>T|||||| 22 40054948 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|12/37|c.2157T>C|p.Ile719Ile|2157/10002|2157/6672|719/2223||,C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|11/36|c.2052T>C|p.Ile684Ile|2052/9897|2052/6567|684/2188|| 22 40055136 . C G . . ANN=G|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|12/36|c.2330+15C>G||||||,G|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|11/35|c.2225+15C>G|||||| 22 40055489 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|13/37|c.2382T>C|p.Thr794Thr|2382/10002|2382/6672|794/2223||,C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|12/36|c.2277T>C|p.Thr759Thr|2277/9897|2277/6567|759/2188|| 22 40055498 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|13/37|c.2391G>A|p.Thr797Thr|2391/10002|2391/6672|797/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|12/36|c.2286G>A|p.Thr762Thr|2286/9897|2286/6567|762/2188|| 22 40055540 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|13/37|c.2433C>T|p.Ile811Ile|2433/10002|2433/6672|811/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|12/36|c.2328C>T|p.Ile776Ile|2328/9897|2328/6567|776/2188|| 22 40055566 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|13/36|c.2448+11G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|12/35|c.2343+11G>A|||||| 22 40055667 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|13/36|c.2449-35G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|12/35|c.2344-35G>A|||||| 22 40055782 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|14/37|c.2529C>T|p.Val843Val|2529/10002|2529/6672|843/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|13/36|c.2424C>T|p.Val808Val|2424/9897|2424/6567|808/2188|| 22 40055896 . T C . . ANN=C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|14/36|c.2604+39T>C||||||,C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|13/35|c.2499+39T>C|||||| 22 40055900 . C T . . ANN=T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|14/36|c.2604+43C>T||||||,T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|13/35|c.2499+43C>T|||||| 22 40056330 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|14/36|c.2605-19G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|13/35|c.2500-19G>A|||||| 22 40056354 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|15/37|c.2610C>T|p.Asp870Asp|2610/10002|2610/6672|870/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|14/36|c.2505C>T|p.Asp835Asp|2505/9897|2505/6567|835/2188|| 22 40056387 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|15/37|c.2643C>T|p.Ser881Ser|2643/10002|2643/6672|881/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|14/36|c.2538C>T|p.Ser846Ser|2538/9897|2538/6567|846/2188|| 22 40056448 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|15/36|c.2698+6C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|14/35|c.2593+6C>T|||||| 22 40056454 . C T . . ANN=T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|15/36|c.2698+12C>T||||||,T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|14/35|c.2593+12C>T|||||| 22 40056457 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|15/36|c.2698+15G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|14/35|c.2593+15G>A|||||| 22 40057127 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|16/37|c.2713C>T|p.Pro905Ser|2713/10002|2713/6672|905/2223||,T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|15/36|c.2608C>T|p.Pro870Ser|2608/9897|2608/6567|870/2188|| 22 40057273 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|16/37|c.2859T>C|p.Ser953Ser|2859/10002|2859/6672|953/2223||,C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|15/36|c.2754T>C|p.Ser918Ser|2754/9897|2754/6567|918/2188|| 22 40057288 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|16/37|c.2874G>A|p.Gly958Gly|2874/10002|2874/6672|958/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|15/36|c.2769G>A|p.Gly923Gly|2769/9897|2769/6567|923/2188|| 22 40058186 . A G . . ANN=G|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|17/37|c.3118A>G|p.Ile1040Val|3118/10002|3118/6672|1040/2223||,G|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|16/36|c.3013A>G|p.Ile1005Val|3013/9897|3013/6567|1005/2188|| 22 40059705 . C T . . ANN=T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|18/36|c.3474-18C>T||||||,T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|17/35|c.3369-18C>T|||||| 22 40059707 . C T . . ANN=T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|18/36|c.3474-16C>T||||||,T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|17/35|c.3369-16C>T|||||| 22 40059828 . G C . . ANN=C|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|19/37|c.3579G>C|p.Gln1193His|3579/10002|3579/6672|1193/2223||,C|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|18/36|c.3474G>C|p.Gln1158His|3474/9897|3474/6567|1158/2188|| 22 40060048 . G C . . ANN=C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|19/36|c.3598-48G>C||||||,C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|18/35|c.3493-48G>C|||||| 22 40060724 . C A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|20/36|c.3667-20C>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|19/35|c.3562-20C>A|||||| 22 40060767 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|21/37|c.3690C>T|p.Phe1230Phe|3690/10002|3690/6672|1230/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|20/36|c.3585C>T|p.Phe1195Phe|3585/9897|3585/6567|1195/2188|| 22 40060887 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|21/37|c.3810C>T|p.Val1270Val|3810/10002|3810/6672|1270/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|20/36|c.3705C>T|p.Val1235Val|3705/9897|3705/6567|1235/2188|| 22 40061497 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|21/36|c.3852-6C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|20/35|c.3747-6C>T|||||| 22 40064278 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|23/36|c.4105-19G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|22/35|c.4000-19G>A|||||| 22 40064281 . T C . . ANN=C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|23/36|c.4105-16T>C||||||,C|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|22/35|c.4000-16T>C|||||| 22 40064419 . T A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|24/36|c.4194+33T>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|23/35|c.4089+33T>A|||||| 22 40066114 . G T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|25/37|c.4266G>T|p.Val1422Val|4266/10002|4266/6672|1422/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|24/36|c.4161G>T|p.Val1387Val|4161/9897|4161/6567|1387/2188|| 22 40066117 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|25/37|c.4269C>T|p.Leu1423Leu|4269/10002|4269/6672|1423/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|24/36|c.4164C>T|p.Leu1388Leu|4164/9897|4164/6567|1388/2188|| 22 40066920 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|26/37|c.4500C>T|p.Asn1500Asn|4500/10002|4500/6672|1500/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|25/36|c.4395C>T|p.Asn1465Asn|4395/9897|4395/6567|1465/2188|| 22 40066958 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|26/37|c.4538C>T|p.Thr1513Met|4538/10002|4538/6672|1513/2223||,T|missense_variant&splice_region_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|25/36|c.4433C>T|p.Thr1478Met|4433/9897|4433/6567|1478/2188|| 22 40069029 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|28/37|c.4725G>A|p.Ala1575Ala|4725/10002|4725/6672|1575/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|27/36|c.4620G>A|p.Ala1540Ala|4620/9897|4620/6567|1540/2188|| 22 40069104 . G T . . ANN=T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|28/36|c.4783+17G>T||||||,T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|27/35|c.4678+17G>T|||||| 22 40069919 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|28/36|c.4784-49G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|27/35|c.4679-49G>A|||||| 22 40069928 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|28/36|c.4784-40G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|27/35|c.4679-40G>A|||||| 22 40070062 . C T . . ANN=T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|29/36|c.4854+24C>T||||||,T|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|28/35|c.4749+24C>T|||||| 22 40070073 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|29/36|c.4854+35G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|28/35|c.4749+35G>A|||||| 22 40073945 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|30/36|c.4934-47G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|29/35|c.4829-47G>A|||||| 22 40074125 . C A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|31/36|c.5055+12C>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|30/35|c.4950+12C>A|||||| 22 40075107 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|31/36|c.5056-5C>T||||||,T|splice_region_variant&intron_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|30/35|c.4951-5C>T|||||| 22 40075195 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|32/37|c.5139C>T|p.Phe1713Phe|5139/10002|5139/6672|1713/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|31/36|c.5034C>T|p.Phe1678Phe|5034/9897|5034/6567|1678/2188|| 22 40075324 . T C . . ANN=C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|32/37|c.5268T>C|p.His1756His|5268/10002|5268/6672|1756/2223||,C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|31/36|c.5163T>C|p.His1721His|5163/9897|5163/6567|1721/2188|| 22 40075341 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|32/37|c.5285C>T|p.Pro1762Leu|5285/10002|5285/6672|1762/2223||,T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|31/36|c.5180C>T|p.Pro1727Leu|5180/9897|5180/6567|1727/2188|| 22 40075683 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|32/36|c.5395-44G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|31/35|c.5290-44G>A|||||| 22 40075733 . C A . . ANN=A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|33/37|c.5401C>A|p.Leu1801Met|5401/10002|5401/6672|1801/2223||,A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|32/36|c.5296C>A|p.Leu1766Met|5296/9897|5296/6567|1766/2188|| 22 40075825 . C T . . ANN=T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|33/37|c.5493C>T|p.His1831His|5493/10002|5493/6672|1831/2223||,T|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|32/36|c.5388C>T|p.His1796His|5388/9897|5388/6567|1796/2188|| 22 40075834 . G A . . ANN=A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|33/37|c.5502G>A|p.Ser1834Ser|5502/10002|5502/6672|1834/2223||,A|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|32/36|c.5397G>A|p.Ser1799Ser|5397/9897|5397/6567|1799/2188|| 22 40075887 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|33/36|c.5541+14G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|32/35|c.5436+14G>A|||||| 22 40075897 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|33/36|c.5541+24G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|32/35|c.5436+24G>A|||||| 22 40076912 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|33/36|c.5542-23G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|32/35|c.5437-23G>A|||||| 22 40077043 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|34/37|c.5650C>T|p.Arg1884Cys|5650/10002|5650/6672|1884/2223||,T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|33/36|c.5545C>T|p.Arg1849Cys|5545/9897|5545/6567|1849/2188|| 22 40077088 . G A . . ANN=A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|34/36|c.5664+31G>A||||||,A|intron_variant|MODIFIER|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|33/35|c.5559+31G>A|||||| 22 40078527 . G A . . ANN=A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|35/37|c.5691G>A|p.Met1897Ile|5691/10002|5691/6672|1897/2223||,A|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|34/36|c.5586G>A|p.Met1862Ile|5586/9897|5586/6567|1862/2188|| 22 40078528 . C T . . ANN=T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|35/37|c.5692C>T|p.Arg1898Cys|5692/10002|5692/6672|1898/2223||,T|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|34/36|c.5587C>T|p.Arg1863Cys|5587/9897|5587/6567|1863/2188|| 22 40078536 . A C . . ANN=C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|35/37|c.5700A>C|p.Gly1900Gly|5700/10002|5700/6672|1900/2223||,C|synonymous_variant|LOW|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|34/36|c.5595A>C|p.Gly1865Gly|5595/9897|5595/6567|1865/2188|| 22 40080349 . T C . . ANN=C|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_021096.3|Coding|36/37|c.5873T>C|p.Leu1958Pro|5873/10002|5873/6672|1958/2223||,C|missense_variant|MODERATE|CACNA1I|CACNA1I|transcript|NM_001003406.1|Coding|35/36|c.5768T>C|p.Leu1923Pro|5768/9897|5768/6567|1923/2188|| 22 40139984 . A T . . ANN=T|synonymous_variant|LOW|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|7/7|c.1524T>A|p.Ile508Ile|1775/2710|1524/1824|508/607|| 22 40140046 . G A . . ANN=A|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|7/7|c.1462C>T|p.Leu488Phe|1713/2710|1462/1824|488/607|| 22 40140137 . G T . . ANN=T|synonymous_variant|LOW|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|7/7|c.1371C>A|p.Thr457Thr|1622/2710|1371/1824|457/607|| 22 40140163 . G A . . ANN=A|synonymous_variant|LOW|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|7/7|c.1345C>T|p.Leu449Leu|1596/2710|1345/1824|449/607|| 22 40140181 . C T . . ANN=T|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|7/7|c.1327G>A|p.Gly443Arg|1578/2710|1327/1824|443/607|| 22 40140299 . T C . . ANN=C|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|6/6|c.1220-11A>G|||||| 22 40140303 . T C . . ANN=C|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|6/6|c.1220-15A>G|||||| 22 40161282 . G C . . ANN=C|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|6/7|c.1165C>G|p.Pro389Ala|1416/2710|1165/1824|389/607|| 22 40161341 . GGA G . . ANN=G|frameshift_variant|HIGH|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|6/7|c.1104_1105delTC|p.Ser368fs|1356/2710|1104/1824|368/607||;LOF=(ENTHD1|ENTHD1|1|1.00) 22 40161439 . C G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|6/7|c.1008G>C|p.Trp336Cys|1259/2710|1008/1824|336/607|| 22 40161527 . G T . . ANN=T|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|6/7|c.920C>A|p.Thr307Asn|1171/2710|920/1824|307/607|| 22 40161572 . C G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|6/7|c.875G>C|p.Arg292Thr|1126/2710|875/1824|292/607|| 22 40161646 . A G . . ANN=G|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|5/6|c.833-32T>C|||||| 22 40217114 . A G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|5/7|c.716T>C|p.Leu239Pro|967/2710|716/1824|239/607|| 22 40217132 . C T . . ANN=T|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|4/6|c.712-14G>A|||||| 22 40217139 . A G . . ANN=G|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|4/6|c.712-21T>C|||||| 22 40217164 . A G . . ANN=G|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|4/6|c.712-46T>C|||||| 22 40231839 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|4/6|c.711+6T>C|||||| 22 40231986 . G C . . ANN=C|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|3/6|c.593-23C>G|||||| 22 40257783 . C G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|3/7|c.579G>C|p.Arg193Ser|830/2710|579/1824|193/607|| 22 40257834 . T G . . ANN=G|synonymous_variant|LOW|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|3/7|c.528A>C|p.Thr176Thr|779/2710|528/1824|176/607|| 22 40257887 . T C . . ANN=C|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|3/7|c.475A>G|p.Lys159Glu|726/2710|475/1824|159/607|| 22 40257994 . T C . . ANN=C|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|3/7|c.368A>G|p.Lys123Arg|619/2710|368/1824|123/607|| 22 40258001 . G A . . ANN=A|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|3/7|c.361C>T|p.Arg121Trp|612/2710|361/1824|121/607|| 22 40258005 . A G . . ANN=G|synonymous_variant|LOW|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|3/7|c.357T>C|p.Tyr119Tyr|608/2710|357/1824|119/607|| 22 40283365 . C G . . ANN=G|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|2/6|c.349+39G>C|||||| 22 40283389 . T C . . ANN=C|intron_variant|MODIFIER|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|2/6|c.349+15A>G|||||| 22 40283427 . A G . . ANN=G|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|2/7|c.326T>C|p.Ile109Thr|577/2710|326/1824|109/607|| 22 40283543 . G A . . ANN=A|synonymous_variant|LOW|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|2/7|c.210C>T|p.His70His|461/2710|210/1824|70/607|| 22 40283561 . A G . . ANN=G|synonymous_variant|LOW|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|2/7|c.192T>C|p.His64His|443/2710|192/1824|64/607|| 22 40283682 . G A . . ANN=A|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|2/7|c.71C>T|p.Ala24Val|322/2710|71/1824|24/607|| 22 40283727 . T A . . ANN=A|missense_variant|MODERATE|ENTHD1|ENTHD1|transcript|NM_152512.3|Coding|2/7|c.26A>T|p.Asn9Ile|277/2710|26/1824|9/607|| 22 40343227 . T G . . ANN=G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|2/7|c.78+39T>G||||||,G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|2/7|c.78+39T>G||||||,G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|2/6|c.-47+39T>G||||||,G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|1/4|c.1-12832T>G||||||,G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|1/6|c.78+39T>G|||||| 22 40356068 . C T . . ANN=T|stop_gained|HIGH|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|2/5|c.10C>T|p.Arg4*|236/3138|10/654|4/217||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|4/8|c.180C>T|p.His60His|457/3528|180/993|60/330||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_004810.3|Coding|4/8|c.180C>T|p.His60His|443/3514|180/993|60/330||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|3/7|c.180C>T|p.His60His|470/3541|180/993|60/330||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|3/7|c.-37C>T||||||,T|5_prime_UTR_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|3/7|c.-37C>T|||||37|;LOF=(GRAP2|GRAP2|5|0.20);NMD=(GRAP2|GRAP2|5|0.20) 22 40356069 . G A . . ANN=A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|4/8|c.181G>A|p.Glu61Lys|458/3528|181/993|61/330||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_004810.3|Coding|4/8|c.181G>A|p.Glu61Lys|444/3514|181/993|61/330||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|2/5|c.11G>A|p.Arg4Gln|237/3138|11/654|4/217||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|3/7|c.181G>A|p.Glu61Lys|471/3541|181/993|61/330||,A|5_prime_UTR_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|3/7|c.-36G>A|||||36| 22 40361957 . C T . . ANN=T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|4/7|c.291-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|4/7|c.291-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|3/6|c.75-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|2/4|c.121-2089C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|3/6|c.291-37C>T|||||| 22 40362211 . G A . . ANN=A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|5/7|c.459+49G>A||||||,A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|5/7|c.459+49G>A||||||,A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|4/6|c.243+49G>A||||||,A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|2/4|c.121-1835G>A||||||,A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|4/6|c.459+49G>A|||||| 22 40364039 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|5/7|c.460-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|GRAP2|transcript|NM_004810.3|Coding|5/7|c.460-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|4/6|c.244-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|2/4|c.121-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|4/6|c.460-7C>T|||||| 22 40364052 . C T . . ANN=T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|6/8|c.466C>T|p.Arg156Trp|743/3528|466/993|156/330||,T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_004810.3|Coding|6/8|c.466C>T|p.Arg156Trp|729/3514|466/993|156/330||,T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|5/7|c.250C>T|p.Arg84Trp|651/3436|250/777|84/258||,T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|3/5|c.127C>T|p.Arg43Trp|353/3138|127/654|43/217||,T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|5/7|c.466C>T|p.Arg156Trp|756/3541|466/993|156/330|| 22 40364122 . G A . . ANN=A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|6/8|c.536G>A|p.Arg179Gln|813/3528|536/993|179/330||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_004810.3|Coding|6/8|c.536G>A|p.Arg179Gln|799/3514|536/993|179/330||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|5/7|c.320G>A|p.Arg107Gln|721/3436|320/777|107/258||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|3/5|c.197G>A|p.Arg66Gln|423/3138|197/654|66/217||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|5/7|c.536G>A|p.Arg179Gln|826/3541|536/993|179/330|| 22 40364307 . C T . . ANN=T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|6/7|c.690+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|6/7|c.690+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|5/6|c.474+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|3/4|c.351+31C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|5/6|c.690+31C>T|||||| 22 40365390 . C G . . ANN=G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|6/7|c.691-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|6/7|c.691-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|5/6|c.475-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|3/4|c.352-25C>G||||||,G|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|5/6|c.691-25C>G|||||| 22 40365391 . C A . . ANN=A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|6/7|c.691-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|6/7|c.691-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|5/6|c.475-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|3/4|c.352-24C>A||||||,A|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|5/6|c.691-24C>A|||||| 22 40365463 . G A . . ANN=A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|7/8|c.739G>A|p.Gly247Ser|1016/3528|739/993|247/330||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_004810.3|Coding|7/8|c.739G>A|p.Gly247Ser|1002/3514|739/993|247/330||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|6/7|c.523G>A|p.Gly175Ser|924/3436|523/777|175/258||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|4/5|c.400G>A|p.Gly134Ser|626/3138|400/654|134/217||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|6/7|c.739G>A|p.Gly247Ser|1029/3541|739/993|247/330|| 22 40365489 . C T . . ANN=T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|7/8|c.765C>T|p.Ala255Ala|1042/3528|765/993|255/330||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_004810.3|Coding|7/8|c.765C>T|p.Ala255Ala|1028/3514|765/993|255/330||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|6/7|c.549C>T|p.Ala183Ala|950/3436|549/777|183/258||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|4/5|c.426C>T|p.Ala142Ala|652/3138|426/654|142/217||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|6/7|c.765C>T|p.Ala255Ala|1055/3541|765/993|255/330|| 22 40365525 . C G . . ANN=G|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|7/8|c.801C>G|p.Leu267Leu|1078/3528|801/993|267/330||,G|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_004810.3|Coding|7/8|c.801C>G|p.Leu267Leu|1064/3514|801/993|267/330||,G|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|6/7|c.585C>G|p.Leu195Leu|986/3436|585/777|195/258||,G|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|4/5|c.462C>G|p.Leu154Leu|688/3138|462/654|154/217||,G|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|6/7|c.801C>G|p.Leu267Leu|1091/3541|801/993|267/330|| 22 40366872 . C T . . ANN=T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|7/7|c.814-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|7/7|c.814-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|6/6|c.598-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|4/4|c.475-37C>T||||||,T|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|6/6|c.814-37C>T|||||| 22 40366876 . T C . . ANN=C|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|7/7|c.814-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|7/7|c.814-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|6/6|c.598-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|4/4|c.475-33T>C||||||,C|intron_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|6/6|c.814-33T>C|||||| 22 40366914 . G A . . ANN=A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|8/8|c.819G>A|p.Val273Val|1096/3528|819/993|273/330||,A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_004810.3|Coding|8/8|c.819G>A|p.Val273Val|1082/3514|819/993|273/330||,A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|7/7|c.603G>A|p.Val201Val|1004/3436|603/777|201/258||,A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|5/5|c.480G>A|p.Val160Val|706/3138|480/654|160/217||,A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|7/7|c.819G>A|p.Val273Val|1109/3541|819/993|273/330|| 22 40366915 . C T . . ANN=T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|8/8|c.820C>T|p.Arg274Trp|1097/3528|820/993|274/330||,T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_004810.3|Coding|8/8|c.820C>T|p.Arg274Trp|1083/3514|820/993|274/330||,T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|7/7|c.604C>T|p.Arg202Trp|1005/3436|604/777|202/258||,T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|5/5|c.481C>T|p.Arg161Trp|707/3138|481/654|161/217||,T|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|7/7|c.820C>T|p.Arg274Trp|1110/3541|820/993|274/330|| 22 40366925 . G A . . ANN=A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|8/8|c.830G>A|p.Arg277Gln|1107/3528|830/993|277/330||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_004810.3|Coding|8/8|c.830G>A|p.Arg277Gln|1093/3514|830/993|277/330||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|7/7|c.614G>A|p.Arg205Gln|1015/3436|614/777|205/258||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|5/5|c.491G>A|p.Arg164Gln|717/3138|491/654|164/217||,A|missense_variant|MODERATE|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|7/7|c.830G>A|p.Arg277Gln|1120/3541|830/993|277/330|| 22 40366977 . C T . . ANN=T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|8/8|c.882C>T|p.Ser294Ser|1159/3528|882/993|294/330||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_004810.3|Coding|8/8|c.882C>T|p.Ser294Ser|1145/3514|882/993|294/330||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|7/7|c.666C>T|p.Ser222Ser|1067/3436|666/777|222/258||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|5/5|c.543C>T|p.Ser181Ser|769/3138|543/654|181/217||,T|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|7/7|c.882C>T|p.Ser294Ser|1172/3541|882/993|294/330|| 22 40367070 . G A . . ANN=A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|8/8|c.975G>A|p.Val325Val|1252/3528|975/993|325/330||,A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_004810.3|Coding|8/8|c.975G>A|p.Val325Val|1238/3514|975/993|325/330||,A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|7/7|c.759G>A|p.Val253Val|1160/3436|759/777|253/258||,A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|5/5|c.636G>A|p.Val212Val|862/3138|636/654|212/217||,A|synonymous_variant|LOW|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|7/7|c.975G>A|p.Val325Val|1265/3541|975/993|325/330|| 22 40367129 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291824.1|Coding|8/8|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_004810.3|Coding|8/8|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291826.1|Coding|7/7|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291828.1|Coding|5/5|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|GRAP2|GRAP2|transcript|NM_001291825.1|Coding|7/7|c.*41C>T|||||41| 22 40415140 . C T . . ANN=T|intron_variant|MODIFIER|FAM83F|FAM83F|transcript|NM_138435.2|Coding|1/4|c.490-32C>T|||||| 22 40415141 . G A . . ANN=A|intron_variant|MODIFIER|FAM83F|FAM83F|transcript|NM_138435.2|Coding|1/4|c.490-31G>A|||||| 22 40415264 . C T . . ANN=T|synonymous_variant|LOW|FAM83F|FAM83F|transcript|NM_138435.2|Coding|2/5|c.582C>T|p.Ile194Ile|676/2071|582/1503|194/500|| 22 40415266 . T A . . ANN=A|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|2/5|c.584T>A|p.Ile195Asn|678/2071|584/1503|195/500|| 22 40415273 . C A,T . . ANN=A|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|2/5|c.591C>A|p.Asp197Glu|685/2071|591/1503|197/500||,T|synonymous_variant|LOW|FAM83F|FAM83F|transcript|NM_138435.2|Coding|2/5|c.591C>T|p.Asp197Asp|685/2071|591/1503|197/500|| 22 40415323 . C T . . ANN=T|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|2/5|c.641C>T|p.Thr214Ile|735/2071|641/1503|214/500|| 22 40415903 . C T . . ANN=T|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|3/5|c.670C>T|p.Arg224Cys|764/2071|670/1503|224/500|| 22 40415968 . G T . . ANN=T|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|3/5|c.735G>T|p.Arg245Ser|829/2071|735/1503|245/500|| 22 40415988 . A G . . ANN=G|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|3/5|c.755A>G|p.Asp252Gly|849/2071|755/1503|252/500|| 22 40416025 . G A . . ANN=A|intron_variant|MODIFIER|FAM83F|FAM83F|transcript|NM_138435.2|Coding|3/4|c.779+13G>A|||||| 22 40416051 . T C . . ANN=C|intron_variant|MODIFIER|FAM83F|FAM83F|transcript|NM_138435.2|Coding|3/4|c.779+39T>C|||||| 22 40417372 . G A . . ANN=A|synonymous_variant|LOW|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.858G>A|p.Thr286Thr|952/2071|858/1503|286/500|| 22 40417495 . C T . . ANN=T|synonymous_variant|LOW|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.981C>T|p.Tyr327Tyr|1075/2071|981/1503|327/500|| 22 40417551 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1037G>A|p.Arg346Gln|1131/2071|1037/1503|346/500|| 22 40417571 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1057G>A|p.Gly353Ser|1151/2071|1057/1503|353/500|| 22 40417579 . G A . . ANN=A|synonymous_variant|LOW|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1065G>A|p.Pro355Pro|1159/2071|1065/1503|355/500|| 22 40417604 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1090G>A|p.Gly364Ser|1184/2071|1090/1503|364/500|| 22 40417780 . C T . . ANN=T|synonymous_variant|LOW|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1266C>T|p.Asn422Asn|1360/2071|1266/1503|422/500|| 22 40417800 . G C . . ANN=C|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1286G>C|p.Arg429Pro|1380/2071|1286/1503|429/500|| 22 40417820 . A G . . ANN=G|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1306A>G|p.Arg436Gly|1400/2071|1306/1503|436/500|| 22 40417851 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1337G>A|p.Arg446Gln|1431/2071|1337/1503|446/500|| 22 40417943 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1429G>A|p.Glu477Lys|1523/2071|1429/1503|477/500|| 22 40417964 . T C . . ANN=C|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|4/5|c.1450T>C|p.Ser484Pro|1544/2071|1450/1503|484/500|| 22 40425535 . G A . . ANN=A|missense_variant|MODERATE|FAM83F|FAM83F|transcript|NM_138435.2|Coding|5/5|c.1469G>A|p.Ser490Asn|1563/2071|1469/1503|490/500|| 22 40425594 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|FAM83F|FAM83F|transcript|NM_138435.2|Coding|5/5|c.*25C>T|||||25| 22 40552078 . A T . . ANN=T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|3/23|c.46-41A>T|||||| 22 40552117 . A G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|3/23|c.46-2A>G||||||;LOF=(TNRC6B|TNRC6B|3|0.33) 22 40552119 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|4/24|c.46G>A|p.Val16Met|348/15959|46/3090|16/1029|| 22 40552234 . A T . . ANN=T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|4/23|c.113+48A>T|||||| 22 40574097 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|1/23|c.-43C>T|||||43|,T|5_prime_UTR_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|1/21|c.-43C>T|||||43|,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|4/23|c.113+21911C>T|||||| 22 40574170 . T A . . ANN=A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|1/22|c.5+26T>A||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|4/23|c.113+21984T>A||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|1/20|c.5+26T>A|||||| 22 40574176 . A G . . ANN=G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|1/22|c.5+32A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|4/23|c.113+21990A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|1/20|c.5+32A>G|||||| 22 40647167 . T C . . ANN=C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|2/22|c.94-16T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|5/23|c.202-16T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|2/20|c.94-16T>C|||||| 22 40657807 . A G . . ANN=G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|3/22|c.116-29A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|6/23|c.224-29A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|3/20|c.116-29A>G|||||| 22 40657967 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|4/23|c.247G>A|p.Ala83Thr|458/18280|247/5502|83/1833||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/24|c.355G>A|p.Ala119Thr|657/15959|355/3090|119/1029||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|4/21|c.247G>A|p.Ala83Thr|458/17950|247/5172|83/1723|| 22 40658117 . A G . . ANN=G|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|4/23|c.397A>G|p.Asn133Asp|608/18280|397/5502|133/1833||,G|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/24|c.505A>G|p.Asn169Asp|807/15959|505/3090|169/1029||,G|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|4/21|c.397A>G|p.Asn133Asp|608/17950|397/5172|133/1723|| 22 40658145 . C T . . ANN=T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|4/23|c.425C>T|p.Ala142Val|636/18280|425/5502|142/1833||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/24|c.533C>T|p.Ala178Val|835/15959|533/3090|178/1029||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|4/21|c.425C>T|p.Ala142Val|636/17950|425/5172|142/1723|| 22 40660813 . C T . . ANN=T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.579C>T|p.Asp193Asp|790/18280|579/5502|193/1833||,T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.579C>T|p.Asp193Asp|790/17950|579/5172|193/1723||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+2636C>T|||||| 22 40660856 . A G . . ANN=G|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.622A>G|p.Thr208Ala|833/18280|622/5502|208/1833||,G|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.622A>G|p.Thr208Ala|833/17950|622/5172|208/1723||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+2679A>G|||||| 22 40660900 . G T . . ANN=T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.666G>T|p.Ser222Ser|877/18280|666/5502|222/1833||,T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.666G>T|p.Ser222Ser|877/17950|666/5172|222/1723||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+2723G>T|||||| 22 40661041 . A G . . ANN=G|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.807A>G|p.Gln269Gln|1018/18280|807/5502|269/1833||,G|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.807A>G|p.Gln269Gln|1018/17950|807/5172|269/1723||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+2864A>G|||||| 22 40661112 . T C . . ANN=C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.878T>C|p.Ile293Thr|1089/18280|878/5502|293/1833||,C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.878T>C|p.Ile293Thr|1089/17950|878/5172|293/1723||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+2935T>C|||||| 22 40661149 . T C . . ANN=C|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.915T>C|p.Asn305Asn|1126/18280|915/5502|305/1833||,C|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.915T>C|p.Asn305Asn|1126/17950|915/5172|305/1723||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+2972T>C|||||| 22 40661502 . G T . . ANN=T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.1268G>T|p.Gly423Val|1479/18280|1268/5502|423/1833||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.1268G>T|p.Gly423Val|1479/17950|1268/5172|423/1723||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+3325G>T|||||| 22 40661522 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.1288G>A|p.Gly430Arg|1499/18280|1288/5502|430/1833||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.1288G>A|p.Gly430Arg|1499/17950|1288/5172|430/1723||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+3345G>A|||||| 22 40661566 . A C . . ANN=C|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.1332A>C|p.Gly444Gly|1543/18280|1332/5502|444/1833||,C|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.1332A>C|p.Gly444Gly|1543/17950|1332/5172|444/1723||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+3389A>C|||||| 22 40661729 . G C . . ANN=C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.1495G>C|p.Gly499Arg|1706/18280|1495/5502|499/1833||,C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.1495G>C|p.Gly499Arg|1706/17950|1495/5172|499/1723||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+3552G>C|||||| 22 40661738 . A G . . ANN=G|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.1504A>G|p.Met502Val|1715/18280|1504/5502|502/1833||,G|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.1504A>G|p.Met502Val|1715/17950|1504/5172|502/1723||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.565+3561A>G|||||| 22 40662358 . C T . . ANN=T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.2124C>T|p.Asn708Asn|2335/18280|2124/5502|708/1833||,T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.2124C>T|p.Asn708Asn|2335/17950|2124/5172|708/1723||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.566-3768C>T|||||| 22 40662585 . G T . . ANN=T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.2351G>T|p.Gly784Val|2562/18280|2351/5502|784/1833||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.2351G>T|p.Gly784Val|2562/17950|2351/5172|784/1723||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.566-3541G>T|||||| 22 40662843 . A C . . ANN=C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.2609A>C|p.Glu870Ala|2820/18280|2609/5502|870/1833||,C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.2609A>C|p.Glu870Ala|2820/17950|2609/5172|870/1723||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.566-3283A>C|||||| 22 40662940 . T C . . ANN=C|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.2706T>C|p.Tyr902Tyr|2917/18280|2706/5502|902/1833||,C|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.2706T>C|p.Tyr902Tyr|2917/17950|2706/5172|902/1723||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.566-3186T>C|||||| 22 40662984 . G C . . ANN=C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|5/23|c.2750G>C|p.Gly917Ala|2961/18280|2750/5502|917/1833||,C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/21|c.2750G>C|p.Gly917Ala|2961/17950|2750/5172|917/1723||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|7/23|c.566-3142G>C|||||| 22 40666230 . T C . . ANN=C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|6/23|c.2911T>C|p.Ser971Pro|3122/18280|2911/5502|971/1833||,C|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|8/24|c.670T>C|p.Ser224Pro|972/15959|670/3090|224/1029||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/20|c.2806+3190T>C|||||| 22 40669393 . G C . . ANN=C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|6/22|c.2966-36G>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|8/23|c.725-36G>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|5/20|c.2807-36G>C|||||| 22 40669456 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|7/23|c.2993G>A|p.Gly998Glu|3204/18280|2993/5502|998/1833||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|9/24|c.752G>A|p.Gly251Glu|1054/15959|752/3090|251/1029||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|6/21|c.2834G>A|p.Gly945Glu|3045/17950|2834/5172|945/1723|| 22 40669482 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|7/23|c.3019G>A|p.Ala1007Thr|3230/18280|3019/5502|1007/1833||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|9/24|c.778G>A|p.Ala260Thr|1080/15959|778/3090|260/1029||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|6/21|c.2860G>A|p.Ala954Thr|3071/17950|2860/5172|954/1723|| 22 40669648 . A G . . ANN=G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|7/22|c.3141+44A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|9/23|c.900+44A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|6/20|c.2982+44A>G|||||| 22 40673035 . T C . . ANN=C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|7/22|c.3142-46T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|9/23|c.901-46T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|6/20|c.2983-46T>C|||||| 22 40673999 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|8/22|c.3217-4C>T||||||,T|splice_region_variant&intron_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|10/23|c.976-4C>T||||||,T|splice_region_variant&intron_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|7/20|c.3058-4C>T|||||| 22 40674062 . C T . . ANN=T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|9/22|c.3262+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|11/23|c.1021+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|8/20|c.3103+14C>T|||||| 22 40675957 . A G . . ANN=G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|9/22|c.3263-42A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|11/23|c.1022-42A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|8/20|c.3104-42A>G|||||| 22 40676092 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|10/23|c.3356G>A|p.Arg1119His|3567/18280|3356/5502|1119/1833||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|12/24|c.1115G>A|p.Arg372His|1417/15959|1115/3090|372/1029||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|9/21|c.3197G>A|p.Arg1066His|3408/17950|3197/5172|1066/1723|| 22 40676184 . A G . . ANN=G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|10/22|c.3411+37A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|12/23|c.1170+37A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|9/20|c.3252+37A>G|||||| 22 40681601 . ATTTTC A . . ANN=A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|11/22|c.3583-47_3583-43delTTTTC||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|12/23|c.1171-47_1171-43delTTTTC||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|9/20|c.3253-47_3253-43delTTTTC|||||| 22 40681788 . C T . . ANN=T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|12/22|c.3708+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|13/23|c.1296+14C>T||||||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|10/20|c.3378+14C>T|||||| 22 40696605 . T G . . ANN=G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|13/22|c.3840+15T>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|14/23|c.1428+15T>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|11/20|c.3510+15T>G|||||| 22 40696612 . TG T . . ANN=T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|13/22|c.3840+23delG||||||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|14/23|c.1428+23delG||||||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|11/20|c.3510+23delG|||||| 22 40696633 . CT C,CTT . . ANN=C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|13/22|c.3840+44delT||||||,CTT|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|13/22|c.3840+44_3840+45insT||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|14/23|c.1428+44delT||||||,CTT|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|14/23|c.1428+44_1428+45insT||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|11/20|c.3510+44delT||||||,CTT|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|11/20|c.3510+44_3510+45insT|||||| 22 40696881 . T A . . ANN=A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|13/22|c.3841-33T>A||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|14/23|c.1429-33T>A||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|11/20|c.3511-33T>A|||||| 22 40697377 . A G . . ANN=G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|15/22|c.4120+40A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|16/23|c.1708+40A>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|13/20|c.3790+40A>G|||||| 22 40704537 . A T . . ANN=T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|16/23|c.4142A>T|p.Asp1381Val|4353/18280|4142/5502|1381/1833||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|17/24|c.1730A>T|p.Asp577Val|2032/15959|1730/3090|577/1029||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|14/21|c.3812A>T|p.Asp1271Val|4023/17950|3812/5172|1271/1723|| 22 40704692 . G C . . ANN=C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|16/22|c.4258+39G>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|17/23|c.1846+39G>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|14/20|c.3928+39G>C|||||| 22 40704697 . T G . . ANN=G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|16/22|c.4258+44T>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|17/23|c.1846+44T>G||||||,G|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|14/20|c.3928+44T>G|||||| 22 40706978 . C T . . ANN=T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|17/23|c.4416C>T|p.Ser1472Ser|4627/18280|4416/5502|1472/1833||,T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|18/24|c.2004C>T|p.Ser668Ser|2306/15959|2004/3090|668/1029||,T|synonymous_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|15/21|c.4086C>T|p.Ser1362Ser|4297/17950|4086/5172|1362/1723|| 22 40708601 . G A . . ANN=A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|18/23|c.4528G>A|p.Ala1510Thr|4739/18280|4528/5502|1510/1833||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|19/24|c.2116G>A|p.Ala706Thr|2418/15959|2116/3090|706/1029||,A|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|16/21|c.4198G>A|p.Ala1400Thr|4409/17950|4198/5172|1400/1723|| 22 40708679 . T C . . ANN=C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|18/22|c.4582+24T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|19/23|c.2170+24T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|16/20|c.4252+24T>C|||||| 22 40709036 . G A . . ANN=A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|19/22|c.4678+35G>A||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|20/23|c.2266+35G>A||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|17/20|c.4348+35G>A|||||| 22 40711248 . G A . . ANN=A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|19/22|c.4679-39G>A||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|20/23|c.2267-39G>A||||||,A|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|17/20|c.4349-39G>A|||||| 22 40711260 . T C . . ANN=C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|19/22|c.4679-27T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|20/23|c.2267-27T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|17/20|c.4349-27T>C|||||| 22 40712022 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|21/22|c.4974+6T>C||||||,C|splice_region_variant&intron_variant|LOW|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|22/23|c.2562+6T>C||||||,C|splice_region_variant&intron_variant|LOW|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|19/20|c.4644+6T>C|||||| 22 40717243 . C T . . ANN=T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|22/22|c.5114+10C>T||||||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|23/23|c.2702+10C>T||||||,T|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|20/20|c.4784+10C>T|||||| 22 40718840 . T C . . ANN=C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|22/22|c.5115-18T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|23/23|c.2703-18T>C||||||,C|intron_variant|MODIFIER|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|20/20|c.4785-18T>C|||||| 22 40718965 . C T . . ANN=T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|23/23|c.5222C>T|p.Ala1741Val|5433/18280|5222/5502|1741/1833||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|24/24|c.2810C>T|p.Ala937Val|3112/15959|2810/3090|937/1029||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|21/21|c.4892C>T|p.Ala1631Val|5103/17950|4892/5172|1631/1723|| 22 40718974 . C T . . ANN=T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001162501.1|Coding|23/23|c.5231C>T|p.Ala1744Val|5442/18280|5231/5502|1744/1833||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_001024843.1|Coding|24/24|c.2819C>T|p.Ala940Val|3121/15959|2819/3090|940/1029||,T|missense_variant|MODERATE|TNRC6B|TNRC6B|transcript|NM_015088.2|Coding|21/21|c.4901C>T|p.Ala1634Val|5112/17950|4901/5172|1634/1723|| 22 40742527 . T A . . ANN=A|5_prime_UTR_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|1/13|c.-36T>A|||||36|,A|5_prime_UTR_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|1/12|c.-36T>A|||||36| 22 40742540 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|1/13|c.-23C>T|||||23|,T|5_prime_UTR_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|1/12|c.-23C>T|||||23| 22 40742542 . T A . . ANN=A|5_prime_UTR_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|1/13|c.-21T>A|||||21|,A|5_prime_UTR_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|1/12|c.-21T>A|||||21| 22 40742552 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|1/13|c.-11G>T|||||11|,T|5_prime_UTR_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|1/12|c.-11G>T|||||11| 22 40742567 . C T . . ANN=T|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_000026.2|Coding|1/13|c.5C>T|p.Ala2Val|64/1563|5/1455|2/484||,T|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_001123378.1|Coding|1/12|c.5C>T|p.Ala2Val|64/1386|5/1278|2/425|| 22 40742686 . C T . . ANN=T|synonymous_variant|LOW|ADSL|ADSL|transcript|NM_000026.2|Coding|1/13|c.124C>T|p.Leu42Leu|183/1563|124/1455|42/484||,T|synonymous_variant|LOW|ADSL|ADSL|transcript|NM_001123378.1|Coding|1/12|c.124C>T|p.Leu42Leu|183/1386|124/1278|42/425|| 22 40745898 . C T . . ANN=T|synonymous_variant|LOW|ADSL|ADSL|transcript|NM_000026.2|Coding|2/13|c.216C>T|p.Ile72Ile|275/1563|216/1455|72/484||,T|synonymous_variant|LOW|ADSL|ADSL|transcript|NM_001123378.1|Coding|2/12|c.216C>T|p.Ile72Ile|275/1386|216/1278|72/425|| 22 40746045 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ADSL|ADSL|transcript|NM_000026.2|Coding|2/12|c.357+6C>T||||||,T|splice_region_variant&intron_variant|LOW|ADSL|ADSL|transcript|NM_001123378.1|Coding|2/11|c.357+6C>T|||||| 22 40749066 . T G . . ANN=G|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|2/12|c.358-11T>G||||||,G|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|2/11|c.358-11T>G|||||| 22 40749073 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|ADSL|ADSL|transcript|NM_000026.2|Coding|2/12|c.358-4G>A||||||,A|splice_region_variant&intron_variant|LOW|ADSL|ADSL|transcript|NM_001123378.1|Coding|2/11|c.358-4G>A|||||| 22 40750289 . A T . . ANN=T|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_000026.2|Coding|4/13|c.440A>T|p.Lys147Met|499/1563|440/1455|147/484||,T|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_001123378.1|Coding|4/12|c.440A>T|p.Lys147Met|499/1386|440/1278|147/425|| 22 40750380 . C T . . ANN=T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|4/12|c.482+49C>T||||||,T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|4/11|c.482+49C>T|||||| 22 40754826 . GTCTC G . . ANN=G|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|4/12|c.483-41_483-38delTCTC||||||,G|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|4/11|c.483-41_483-38delTCTC|||||| 22 40755001 . G T . . ANN=T|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_000026.2|Coding|5/13|c.616G>T|p.Ala206Ser|675/1563|616/1455|206/484||,T|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_001123378.1|Coding|5/12|c.616G>T|p.Ala206Ser|675/1386|616/1278|206/425|| 22 40755034 . C G . . ANN=G|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_000026.2|Coding|5/13|c.649C>G|p.His217Asp|708/1563|649/1455|217/484||,G|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_001123378.1|Coding|5/12|c.649C>G|p.His217Asp|708/1386|649/1278|217/425|| 22 40755222 . G C . . ANN=C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|5/12|c.655-42G>C||||||,C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|5/11|c.655-42G>C|||||| 22 40756399 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|ADSL|ADSL|transcript|NM_000026.2|Coding|6/12|c.702-7T>C||||||,C|splice_region_variant&intron_variant|LOW|ADSL|ADSL|transcript|NM_001123378.1|Coding|6/11|c.702-7T>C|||||| 22 40756526 . C T . . ANN=T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|7/12|c.792+30C>T||||||,T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|7/11|c.792+30C>T|||||| 22 40756542 . CACAG C . . ANN=C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|7/12|c.792+47_792+50delACAG||||||,C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|7/11|c.792+47_792+50delACAG|||||| 22 40757228 . A C . . ANN=C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|7/12|c.793-49A>C||||||,C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|7/11|c.793-49A>C|||||| 22 40757292 . C T . . ANN=T|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_000026.2|Coding|8/13|c.808C>T|p.Arg270Cys|867/1563|808/1455|270/484||,T|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_001123378.1|Coding|8/12|c.808C>T|p.Arg270Cys|867/1386|808/1278|270/425|| 22 40757509 . T C . . ANN=C|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_000026.2|Coding|9/13|c.880T>C|p.Tyr294His|939/1563|880/1455|294/484||,C|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_001123378.1|Coding|9/12|c.880T>C|p.Tyr294His|939/1386|880/1278|294/425|| 22 40757524 . A G . . ANN=G|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_000026.2|Coding|9/13|c.895A>G|p.Met299Val|954/1563|895/1455|299/484||,G|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_001123378.1|Coding|9/12|c.895A>G|p.Met299Val|954/1386|895/1278|299/425|| 22 40757657 . A G . . ANN=G|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|9/12|c.1010+18A>G||||||,G|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|9/11|c.1010+18A>G|||||| 22 40757684 . C G . . ANN=G|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|9/12|c.1010+45C>G||||||,G|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|9/11|c.1010+45C>G|||||| 22 40760241 . G C . . ANN=C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|10/12|c.1102-39G>C||||||,C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|10/11|c.1102-39G>C|||||| 22 40760264 . G C . . ANN=C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|10/12|c.1102-16G>C||||||,C|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|10/11|c.1102-16G>C|||||| 22 40760290 . G A . . ANN=A|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_000026.2|Coding|11/13|c.1112G>A|p.Arg371Gln|1171/1563|1112/1455|371/484||,A|missense_variant|MODERATE|ADSL|ADSL|transcript|NM_001123378.1|Coding|11/12|c.1112G>A|p.Arg371Gln|1171/1386|1112/1278|371/425|| 22 40760858 . C T . . ANN=T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|11/12|c.1192-26C>T||||||,T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|11/11|c.1191+489C>T|||||| 22 40760881 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ADSL|ADSL|transcript|NM_000026.2|Coding|11/12|c.1192-3C>T||||||,T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|11/11|c.1191+512C>T|||||| 22 40762397 . T A . . ANN=A|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|12/12|c.1369-43T>A||||||,A|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|11/11|c.1192-43T>A|||||| 22 40762408 . TC T . . ANN=T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_000026.2|Coding|12/12|c.1369-31delC||||||,T|intron_variant|MODIFIER|ADSL|ADSL|transcript|NM_001123378.1|Coding|11/11|c.1192-31delC|||||| 22 40797647 . T C . . ANN=C|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|3/22|c.58T>C|p.Trp20Arg|267/2989|58/2250|20/749|| 22 40798179 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|4/22|c.127G>A|p.Asp43Asn|336/2989|127/2250|43/749|| 22 40798227 . T G . . ANN=G|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|4/21|c.157+18T>G|||||| 22 40800282 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|5/22|c.189G>A|p.Ala63Ala|398/2989|189/2250|63/749|| 22 40800320 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|5/22|c.227G>A|p.Arg76Gln|436/2989|227/2250|76/749|| 22 40800385 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|5/22|c.292G>A|p.Ala98Thr|501/2989|292/2250|98/749|| 22 40800386 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|5/22|c.293C>T|p.Ala98Val|502/2989|293/2250|98/749|| 22 40800400 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|5/22|c.307C>T|p.Arg103Cys|516/2989|307/2250|103/749|| 22 40800518 . G A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|5/21|c.367-43G>A|||||| 22 40800522 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|5/21|c.367-39C>T|||||| 22 40800544 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|5/21|c.367-17C>T|||||| 22 40800653 . C G . . ANN=G|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|6/22|c.459C>G|p.Thr153Thr|668/2989|459/2250|153/749|| 22 40800676 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|6/21|c.474+8C>T|||||| 22 40801129 . G A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|6/21|c.475-16G>A|||||| 22 40801181 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|7/22|c.511G>A|p.Ala171Thr|720/2989|511/2250|171/749|| 22 40801207 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|7/22|c.537C>T|p.Ile179Ile|746/2989|537/2250|179/749|| 22 40801282 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|7/22|c.612C>T|p.Thr204Thr|821/2989|612/2250|204/749|| 22 40801312 . A G . . ANN=G|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|7/21|c.618+24A>G|||||| 22 40801604 . T A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|7/21|c.619-49T>A|||||| 22 40801663 . G T . . ANN=T|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|8/22|c.629G>T|p.Cys210Phe|838/2989|629/2250|210/749|| 22 40801733 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|8/22|c.699C>T|p.Pro233Pro|908/2989|699/2250|233/749|| 22 40801787 . G C . . ANN=C|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|8/22|c.753G>C|p.Leu251Leu|962/2989|753/2250|251/749|| 22 40801855 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|8/21|c.814+7C>T|||||| 22 40801874 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|8/21|c.814+26C>T|||||| 22 40802189 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|9/22|c.922G>A|p.Val308Met|1131/2989|922/2250|308/749|| 22 40802194 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|9/22|c.927G>A|p.Leu309Leu|1136/2989|927/2250|309/749|| 22 40802267 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|9/21|c.960+40C>T|||||| 22 40802392 . G A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|9/21|c.961-50G>A|||||| 22 40802444 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|10/22|c.963G>A|p.Glu321Glu|1172/2989|963/2250|321/749|| 22 40802489 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|10/22|c.1008G>A|p.Thr336Thr|1217/2989|1008/2250|336/749|| 22 40802567 . C G . . ANN=G|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|10/22|c.1086C>G|p.Thr362Thr|1295/2989|1086/2250|362/749|| 22 40802577 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|10/22|c.1096G>A|p.Val366Met|1305/2989|1096/2250|366/749|| 22 40802642 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|10/22|c.1161C>T|p.Ala387Ala|1370/2989|1161/2250|387/749|| 22 40803041 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|11/22|c.1206G>A|p.Gln402Gln|1415/2989|1206/2250|402/749|| 22 40803083 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|11/21|c.1240+8C>T|||||| 22 40803089 . G A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|11/21|c.1240+14G>A|||||| 22 40803104 . T C . . ANN=C|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|11/21|c.1240+29T>C|||||| 22 40803112 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|11/21|c.1240+37C>T|||||| 22 40803186 . G T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|11/21|c.1241-19G>T|||||| 22 40803230 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|12/22|c.1266G>A|p.Lys422Lys|1475/2989|1266/2250|422/749|| 22 40803367 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|12/21|c.1368+35C>T|||||| 22 40803454 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|13/22|c.1406G>A|p.Arg469Gln|1615/2989|1406/2250|469/749|| 22 40803584 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|13/21|c.1524+12C>T|||||| 22 40803782 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|13/21|c.1525-11C>T|||||| 22 40803845 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|14/22|c.1577G>A|p.Arg526Gln|1786/2989|1577/2250|526/749|| 22 40804033 . G T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|14/21|c.1580-42G>T|||||| 22 40804078 . G A . . ANN=A|stop_gained|HIGH|SGSM3|SGSM3|transcript|NM_015705.4|Coding|15/22|c.1583G>A|p.Trp528*|1792/2989|1583/2250|528/749||;LOF=(SGSM3|SGSM3|1|1.00);NMD=(SGSM3|SGSM3|1|1.00) 22 40804150 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|15/21|c.1629+26C>T|||||| 22 40804164 . C G . . ANN=G|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|15/21|c.1629+40C>G|||||| 22 40804168 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|15/21|c.1629+44C>T|||||| 22 40804286 . C G . . ANN=G|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|16/22|c.1635C>G|p.Ser545Ser|1844/2989|1635/2250|545/749|| 22 40804348 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|16/22|c.1697C>T|p.Pro566Leu|1906/2989|1697/2250|566/749|| 22 40804356 . A G . . ANN=G|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|16/22|c.1705A>G|p.Lys569Glu|1914/2989|1705/2250|569/749|| 22 40804412 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|16/22|c.1761C>T|p.His587His|1970/2989|1761/2250|587/749|| 22 40804428 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|16/22|c.1777G>A|p.Glu593Lys|1986/2989|1777/2250|593/749|| 22 40804448 . G A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|16/21|c.1782+15G>A|||||| 22 40804597 . G A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|16/21|c.1783-34G>A|||||| 22 40804648 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|17/22|c.1800C>T|p.Val600Val|2009/2989|1800/2250|600/749|| 22 40804825 . C A . . ANN=A|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|18/22|c.1881C>A|p.Thr627Thr|2090/2989|1881/2250|627/749|| 22 40804844 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|18/22|c.1900C>T|p.Arg634Trp|2109/2989|1900/2250|634/749|| 22 40804901 . G A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|18/21|c.1903-36G>A|||||| 22 40804922 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|18/21|c.1903-15C>T|||||| 22 40804932 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|18/21|c.1903-5C>A|||||| 22 40804954 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|19/22|c.1920C>T|p.Asn640Asn|2129/2989|1920/2250|640/749|| 22 40805230 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|19/21|c.1989-24C>T|||||| 22 40805231 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|19/21|c.1989-23C>T|||||| 22 40805242 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|19/21|c.1989-12C>T|||||| 22 40805305 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|20/22|c.2040C>T|p.Thr680Thr|2249/2989|2040/2250|680/749|| 22 40805320 . C T . . ANN=T|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|20/22|c.2055C>T|p.Tyr685Tyr|2264/2989|2055/2250|685/749|| 22 40805448 . C G . . ANN=G|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|20/21|c.2112-21C>G|||||| 22 40805470 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|21/22|c.2113G>A|p.Val705Ile|2322/2989|2113/2250|705/749|| 22 40805512 . C T . . ANN=T|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|21/22|c.2155C>T|p.Leu719Phe|2364/2989|2155/2250|719/749|| 22 40805520 . G A . . ANN=A|synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|21/22|c.2163G>A|p.Ala721Ala|2372/2989|2163/2250|721/749|| 22 40805541 . G A . . ANN=A|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|21/21|c.2172+12G>A|||||| 22 40805569 . C G . . ANN=G|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|21/21|c.2172+40C>G|||||| 22 40805648 . C T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|21/21|c.2173-38C>T|||||| 22 40805657 . TGTGAG T . . ANN=T|intron_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|21/21|c.2173-28_2173-24delGTGAG|||||| 22 40805688 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SGSM3|SGSM3|transcript|NM_015705.4|Coding|22/22|c.2175G>A|p.Ala725Ala|2384/2989|2175/2250|725/749|| 22 40805714 . G A . . ANN=A|missense_variant|MODERATE|SGSM3|SGSM3|transcript|NM_015705.4|Coding|22/22|c.2201G>A|p.Arg734Gln|2410/2989|2201/2250|734/749|| 22 40805799 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|SGSM3|SGSM3|transcript|NM_015705.4|Coding|22/22|c.*36T>G|||||36| 22 40807368 . T TCCCCA . . ANN=TCCCCA|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|12/12|c.*21_*25dupTGGGG|||||25|,TCCCCA|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|14/14|c.*21_*25dupTGGGG|||||25|,TCCCCA|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|15/15|c.*430_*434dupTGGGG|||||434|,TCCCCA|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|15/15|c.*21_*25dupTGGGG|||||25| 22 40807378 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|12/12|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|14/14|c.*16C>T|||||16|,A|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|15/15|c.*425C>T|||||425|,A|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|15/15|c.*16C>T|||||16| 22 40807391 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|12/12|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|14/14|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|15/15|c.*412C>G|||||412|,C|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|15/15|c.*3C>G|||||3| 22 40807436 . G A . . ANN=A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|12/12|c.2754C>T|p.Leu918Leu|2967/4118|2754/2796|918/931||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|14/14|c.2604C>T|p.Leu868Leu|3229/4380|2604/2646|868/881||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|15/15|c.2754C>T|p.Leu918Leu|3379/4530|2754/2796|918/931||,A|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|15/15|c.*367C>T|||||367| 22 40807755 . C A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|12/12|c.2435G>T|p.Gly812Val|2648/4118|2435/2796|812/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|14/14|c.2285G>T|p.Gly762Val|2910/4380|2285/2646|762/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|15/15|c.2435G>T|p.Gly812Val|3060/4530|2435/2796|812/931||,A|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|15/15|c.*48G>T|||||48| 22 40807775 . T C . . ANN=C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|12/12|c.2415A>G|p.Pro805Pro|2628/4118|2415/2796|805/931||,C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|14/14|c.2265A>G|p.Pro755Pro|2890/4380|2265/2646|755/881||,C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|15/15|c.2415A>G|p.Pro805Pro|3040/4530|2415/2796|805/931||,C|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|15/15|c.*28A>G|||||28| 22 40807799 . G A . . ANN=A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|12/12|c.2391C>T|p.Leu797Leu|2604/4118|2391/2796|797/931||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|14/14|c.2241C>T|p.Leu747Leu|2866/4380|2241/2646|747/881||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|15/15|c.2391C>T|p.Leu797Leu|3016/4530|2391/2796|797/931||,A|3_prime_UTR_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|15/15|c.*4C>T|||||4| 22 40807902 . G A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|12/12|c.2288C>T|p.Ala763Val|2501/4118|2288/2796|763/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|14/14|c.2138C>T|p.Ala713Val|2763/4380|2138/2646|713/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|15/15|c.2288C>T|p.Ala763Val|2913/4530|2288/2796|763/931||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|15/15|c.2298C>T|p.Ser766Ser|2923/4540|2298/2397|766/798|| 22 40807936 . T C . . ANN=C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|11/11|c.2279-25A>G||||||,C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|13/13|c.2129-25A>G||||||,C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|14/14|c.2289-25A>G||||||,C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|14/14|c.2279-25A>G|||||| 22 40812958 . C T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|11/11|c.2278+32G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|13/13|c.2128+32G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|14/14|c.2288+22G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|14/14|c.2278+32G>A|||||| 22 40812974 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|14/14|c.2288+6C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|11/11|c.2278+16C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|13/13|c.2128+16C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|14/14|c.2278+16C>T|||||| 22 40813030 . C T . . ANN=T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|11/12|c.2238G>A|p.Gln746Gln|2451/4118|2238/2796|746/931||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|13/14|c.2088G>A|p.Gln696Gln|2713/4380|2088/2646|696/881||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|14/15|c.2238G>A|p.Gln746Gln|2863/4540|2238/2397|746/798||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|14/15|c.2238G>A|p.Gln746Gln|2863/4530|2238/2796|746/931|| 22 40813075 . AAG A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|10/11|c.2218-27_2218-26delCT||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|12/13|c.2068-27_2068-26delCT||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|13/14|c.2218-27_2218-26delCT||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|13/14|c.2218-27_2218-26delCT|||||| 22 40813325 . G T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|10/11|c.2217+20C>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|12/13|c.2067+20C>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|13/14|c.2217+20C>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|13/14|c.2217+20C>A|||||| 22 40813334 . G A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|10/11|c.2217+11C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|12/13|c.2067+11C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|13/14|c.2217+11C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|13/14|c.2217+11C>T|||||| 22 40814334 . C T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/11|c.2064+44G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/13|c.1914+44G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/14|c.2064+44G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|12/14|c.2064+44G>A|||||| 22 40814356 . G A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/11|c.2064+22C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/13|c.1914+22C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/14|c.2064+22C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|12/14|c.2064+22C>T|||||| 22 40814431 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.2011G>A|p.Val671Met|2224/4118|2011/2796|671/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1861G>A|p.Val621Met|2486/4380|1861/2646|621/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.2011G>A|p.Val671Met|2636/4540|2011/2397|671/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.2011G>A|p.Val671Met|2636/4530|2011/2796|671/931|| 22 40814500 . T C . . ANN=C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1942A>G|p.Ser648Gly|2155/4118|1942/2796|648/931||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1792A>G|p.Ser598Gly|2417/4380|1792/2646|598/881||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1942A>G|p.Ser648Gly|2567/4540|1942/2397|648/798||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1942A>G|p.Ser648Gly|2567/4530|1942/2796|648/931|| 22 40814533 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1909G>A|p.Ala637Thr|2122/4118|1909/2796|637/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1759G>A|p.Ala587Thr|2384/4380|1759/2646|587/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1909G>A|p.Ala637Thr|2534/4540|1909/2397|637/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1909G>A|p.Ala637Thr|2534/4530|1909/2796|637/931|| 22 40814542 . G A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1900C>T|p.Pro634Ser|2113/4118|1900/2796|634/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1750C>T|p.Pro584Ser|2375/4380|1750/2646|584/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1900C>T|p.Pro634Ser|2525/4540|1900/2397|634/798||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1900C>T|p.Pro634Ser|2525/4530|1900/2796|634/931|| 22 40814545 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1897G>A|p.Glu633Lys|2110/4118|1897/2796|633/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1747G>A|p.Glu583Lys|2372/4380|1747/2646|583/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1897G>A|p.Glu633Lys|2522/4540|1897/2397|633/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1897G>A|p.Glu633Lys|2522/4530|1897/2796|633/931|| 22 40814594 . C T . . ANN=T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1848G>A|p.Pro616Pro|2061/4118|1848/2796|616/931||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1698G>A|p.Pro566Pro|2323/4380|1698/2646|566/881||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1848G>A|p.Pro616Pro|2473/4540|1848/2397|616/798||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1848G>A|p.Pro616Pro|2473/4530|1848/2796|616/931|| 22 40814595 . G A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1847C>T|p.Pro616Leu|2060/4118|1847/2796|616/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1697C>T|p.Pro566Leu|2322/4380|1697/2646|566/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1847C>T|p.Pro616Leu|2472/4540|1847/2397|616/798||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1847C>T|p.Pro616Leu|2472/4530|1847/2796|616/931|| 22 40814636 . C T . . ANN=T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1806G>A|p.Ala602Ala|2019/4118|1806/2796|602/931||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1656G>A|p.Ala552Ala|2281/4380|1656/2646|552/881||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1806G>A|p.Ala602Ala|2431/4540|1806/2397|602/798||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1806G>A|p.Ala602Ala|2431/4530|1806/2796|602/931|| 22 40814662 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1780G>A|p.Ala594Thr|1993/4118|1780/2796|594/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1630G>A|p.Ala544Thr|2255/4380|1630/2646|544/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1780G>A|p.Ala594Thr|2405/4540|1780/2397|594/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1780G>A|p.Ala594Thr|2405/4530|1780/2796|594/931|| 22 40814737 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1705G>A|p.Ala569Thr|1918/4118|1705/2796|569/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1555G>A|p.Ala519Thr|2180/4380|1555/2646|519/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1705G>A|p.Ala569Thr|2330/4540|1705/2397|569/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1705G>A|p.Ala569Thr|2330/4530|1705/2796|569/931|| 22 40814749 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1693G>A|p.Ala565Thr|1906/4118|1693/2796|565/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1543G>A|p.Ala515Thr|2168/4380|1543/2646|515/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1693G>A|p.Ala565Thr|2318/4540|1693/2397|565/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1693G>A|p.Ala565Thr|2318/4530|1693/2796|565/931|| 22 40814899 . G A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1543C>T|p.Arg515Trp|1756/4118|1543/2796|515/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1393C>T|p.Arg465Trp|2018/4380|1393/2646|465/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1543C>T|p.Arg515Trp|2168/4540|1543/2397|515/798||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1543C>T|p.Arg515Trp|2168/4530|1543/2796|515/931|| 22 40814988 . G A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1454C>T|p.Thr485Met|1667/4118|1454/2796|485/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1304C>T|p.Thr435Met|1929/4380|1304/2646|435/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1454C>T|p.Thr485Met|2079/4540|1454/2397|485/798||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1454C>T|p.Thr485Met|2079/4530|1454/2796|485/931|| 22 40815047 . C T . . ANN=T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1395G>A|p.Thr465Thr|1608/4118|1395/2796|465/931||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1245G>A|p.Thr415Thr|1870/4380|1245/2646|415/881||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1395G>A|p.Thr465Thr|2020/4540|1395/2397|465/798||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1395G>A|p.Thr465Thr|2020/4530|1395/2796|465/931|| 22 40815056 . C T . . ANN=T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1386G>A|p.Leu462Leu|1599/4118|1386/2796|462/931||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1236G>A|p.Leu412Leu|1861/4380|1236/2646|412/881||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1386G>A|p.Leu462Leu|2011/4540|1386/2397|462/798||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1386G>A|p.Leu462Leu|2011/4530|1386/2796|462/931|| 22 40815089 . G C . . ANN=C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1353C>G|p.Pro451Pro|1566/4118|1353/2796|451/931||,C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1203C>G|p.Pro401Pro|1828/4380|1203/2646|401/881||,C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1353C>G|p.Pro451Pro|1978/4540|1353/2397|451/798||,C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1353C>G|p.Pro451Pro|1978/4530|1353/2796|451/931|| 22 40815097 . A G . . ANN=G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1345T>C|p.Ser449Pro|1558/4118|1345/2796|449/931||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1195T>C|p.Ser399Pro|1820/4380|1195/2646|399/881||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1345T>C|p.Ser449Pro|1970/4540|1345/2397|449/798||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1345T>C|p.Ser449Pro|1970/4530|1345/2796|449/931|| 22 40815133 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1309G>A|p.Ala437Thr|1522/4118|1309/2796|437/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1159G>A|p.Ala387Thr|1784/4380|1159/2646|387/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1309G>A|p.Ala437Thr|1934/4540|1309/2397|437/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1309G>A|p.Ala437Thr|1934/4530|1309/2796|437/931|| 22 40815147 . A G . . ANN=G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1295T>C|p.Val432Ala|1508/4118|1295/2796|432/931||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1145T>C|p.Val382Ala|1770/4380|1145/2646|382/881||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1295T>C|p.Val432Ala|1920/4540|1295/2397|432/798||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1295T>C|p.Val432Ala|1920/4530|1295/2796|432/931|| 22 40815190 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1252G>A|p.Gly418Arg|1465/4118|1252/2796|418/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1102G>A|p.Gly368Arg|1727/4380|1102/2646|368/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1252G>A|p.Gly418Arg|1877/4540|1252/2397|418/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1252G>A|p.Gly418Arg|1877/4530|1252/2796|418/931|| 22 40815256 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1186G>A|p.Ala396Thr|1399/4118|1186/2796|396/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.1036G>A|p.Ala346Thr|1661/4380|1036/2646|346/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1186G>A|p.Ala396Thr|1811/4540|1186/2397|396/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1186G>A|p.Ala396Thr|1811/4530|1186/2796|396/931|| 22 40815294 . T C . . ANN=C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|9/12|c.1148A>G|p.Gln383Arg|1361/4118|1148/2796|383/931||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|11/14|c.998A>G|p.Gln333Arg|1623/4380|998/2646|333/881||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|12/15|c.1148A>G|p.Gln383Arg|1773/4540|1148/2397|383/798||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|12/15|c.1148A>G|p.Gln383Arg|1773/4530|1148/2796|383/931|| 22 40815429 . G A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|8/11|c.1054-41C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|10/13|c.904-41C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|11/14|c.1054-41C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|11/14|c.1054-41C>T|||||| 22 40816417 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|8/12|c.1045G>A|p.Asp349Asn|1258/4118|1045/2796|349/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|10/14|c.895G>A|p.Asp299Asn|1520/4380|895/2646|299/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|11/15|c.1045G>A|p.Asp349Asn|1670/4540|1045/2397|349/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|11/15|c.1045G>A|p.Asp349Asn|1670/4530|1045/2796|349/931|| 22 40816430 . C T . . ANN=T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|8/12|c.1032G>A|p.Pro344Pro|1245/4118|1032/2796|344/931||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|10/14|c.882G>A|p.Pro294Pro|1507/4380|882/2646|294/881||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|11/15|c.1032G>A|p.Pro344Pro|1657/4540|1032/2397|344/798||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|11/15|c.1032G>A|p.Pro344Pro|1657/4530|1032/2796|344/931|| 22 40816443 . G A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|8/12|c.1019C>T|p.Pro340Leu|1232/4118|1019/2796|340/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|10/14|c.869C>T|p.Pro290Leu|1494/4380|869/2646|290/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|11/15|c.1019C>T|p.Pro340Leu|1644/4540|1019/2397|340/798||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|11/15|c.1019C>T|p.Pro340Leu|1644/4530|1019/2796|340/931|| 22 40816503 . G A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|8/12|c.959C>T|p.Ser320Leu|1172/4118|959/2796|320/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|10/14|c.809C>T|p.Ser270Leu|1434/4380|809/2646|270/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|11/15|c.959C>T|p.Ser320Leu|1584/4540|959/2397|320/798||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|11/15|c.959C>T|p.Ser320Leu|1584/4530|959/2796|320/931|| 22 40816548 . G T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|8/12|c.914C>A|p.Thr305Asn|1127/4118|914/2796|305/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|10/14|c.764C>A|p.Thr255Asn|1389/4380|764/2646|255/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|11/15|c.914C>A|p.Thr305Asn|1539/4540|914/2397|305/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|11/15|c.914C>A|p.Thr305Asn|1539/4530|914/2796|305/931|| 22 40816571 . G A . . ANN=A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|8/12|c.891C>T|p.Gly297Gly|1104/4118|891/2796|297/931||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|10/14|c.741C>T|p.Gly247Gly|1366/4380|741/2646|247/881||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|11/15|c.891C>T|p.Gly297Gly|1516/4540|891/2397|297/798||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|11/15|c.891C>T|p.Gly297Gly|1516/4530|891/2796|297/931|| 22 40816623 . G A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|7/11|c.882-43C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|9/13|c.732-43C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|10/14|c.882-43C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|10/14|c.882-43C>T|||||| 22 40816822 . G A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|7/11|c.881+29C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|9/13|c.731+29C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|10/14|c.881+29C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|10/14|c.881+29C>T|||||| 22 40816841 . G A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|7/11|c.881+10C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|9/13|c.731+10C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|10/14|c.881+10C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|10/14|c.881+10C>T|||||| 22 40816882 . T TGTG . . ANN=TGTG|inframe_insertion|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|7/12|c.847_849dupCAC|p.His283dup|1062/4118|849/2796|283/931||,TGTG|inframe_insertion|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|9/14|c.697_699dupCAC|p.His233dup|1324/4380|699/2646|233/881||,TGTG|inframe_insertion|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|10/15|c.847_849dupCAC|p.His283dup|1474/4540|849/2397|283/798||,TGTG|inframe_insertion|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|10/15|c.847_849dupCAC|p.His283dup|1474/4530|849/2796|283/931|| 22 40816889 . C G . . ANN=G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|7/12|c.843G>C|p.Gln281His|1056/4118|843/2796|281/931||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|9/14|c.693G>C|p.Gln231His|1318/4380|693/2646|231/881||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|10/15|c.843G>C|p.Gln281His|1468/4540|843/2397|281/798||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|10/15|c.843G>C|p.Gln281His|1468/4530|843/2796|281/931|| 22 40816955 . G A . . ANN=A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|7/12|c.777C>T|p.Tyr259Tyr|990/4118|777/2796|259/931||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|9/14|c.627C>T|p.Tyr209Tyr|1252/4380|627/2646|209/881||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|10/15|c.777C>T|p.Tyr259Tyr|1402/4540|777/2397|259/798||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|10/15|c.777C>T|p.Tyr259Tyr|1402/4530|777/2796|259/931|| 22 40816960 . A G . . ANN=G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|7/12|c.772T>C|p.Ser258Pro|985/4118|772/2796|258/931||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|9/14|c.622T>C|p.Ser208Pro|1247/4380|622/2646|208/881||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|10/15|c.772T>C|p.Ser258Pro|1397/4540|772/2397|258/798||,G|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|10/15|c.772T>C|p.Ser258Pro|1397/4530|772/2796|258/931|| 22 40817154 . C T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|6/11|c.628-50G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/13|c.478-50G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|9/14|c.628-50G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|9/14|c.628-50G>A|||||| 22 40819551 . T C . . ANN=C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|6/12|c.616A>G|p.Thr206Ala|829/4118|616/2796|206/931||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|9/15|c.616A>G|p.Thr206Ala|1241/4540|616/2397|206/798||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|9/15|c.616A>G|p.Thr206Ala|1241/4530|616/2796|206/931||,C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/13|c.477+659A>G|||||| 22 40819629 . G C . . ANN=C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|6/12|c.538C>G|p.Pro180Ala|751/4118|538/2796|180/931||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|9/15|c.538C>G|p.Pro180Ala|1163/4540|538/2397|180/798||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|9/15|c.538C>G|p.Pro180Ala|1163/4530|538/2796|180/931||,C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/13|c.477+581C>G|||||| 22 40819664 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|6/12|c.503G>A|p.Arg168Gln|716/4118|503/2796|168/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|9/15|c.503G>A|p.Arg168Gln|1128/4540|503/2397|168/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|9/15|c.503G>A|p.Arg168Gln|1128/4530|503/2796|168/931||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/13|c.477+546G>A|||||| 22 40820160 . G A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|5/11|c.477+50C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/13|c.477+50C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|8/14|c.477+50C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|8/14|c.477+50C>T|||||| 22 40820172 . C T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|5/11|c.477+38G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/13|c.477+38G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|8/14|c.477+38G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|8/14|c.477+38G>A|||||| 22 40820203 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|5/11|c.477+7G>T||||||,A|splice_region_variant&intron_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/13|c.477+7G>T||||||,A|splice_region_variant&intron_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|8/14|c.477+7G>T||||||,A|splice_region_variant&intron_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|8/14|c.477+7G>T|||||| 22 40820213 . G C . . ANN=C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|5/12|c.474C>G|p.Thr158Thr|687/4118|474/2796|158/931||,C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/14|c.474C>G|p.Thr158Thr|1099/4380|474/2646|158/881||,C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|8/15|c.474C>G|p.Thr158Thr|1099/4540|474/2397|158/798||,C|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|8/15|c.474C>G|p.Thr158Thr|1099/4530|474/2796|158/931|| 22 40820236 . T C . . ANN=C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|5/12|c.451A>G|p.Ser151Gly|664/4118|451/2796|151/931||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/14|c.451A>G|p.Ser151Gly|1076/4380|451/2646|151/881||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|8/15|c.451A>G|p.Ser151Gly|1076/4540|451/2397|151/798||,C|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|8/15|c.451A>G|p.Ser151Gly|1076/4530|451/2796|151/931|| 22 40820248 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|5/12|c.439G>A|p.Glu147Lys|652/4118|439/2796|147/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/14|c.439G>A|p.Glu147Lys|1064/4380|439/2646|147/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|8/15|c.439G>A|p.Glu147Lys|1064/4540|439/2397|147/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|8/15|c.439G>A|p.Glu147Lys|1064/4530|439/2796|147/931|| 22 40820273 . C T . . ANN=T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|5/12|c.414G>A|p.Pro138Pro|627/4118|414/2796|138/931||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|8/14|c.414G>A|p.Pro138Pro|1039/4380|414/2646|138/881||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|8/15|c.414G>A|p.Pro138Pro|1039/4540|414/2397|138/798||,T|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|8/15|c.414G>A|p.Pro138Pro|1039/4530|414/2796|138/931|| 22 40825561 . C T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|4/11|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|7/13|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|7/14|c.301+49G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|7/14|c.301+49G>A|||||| 22 40825765 . G A . . ANN=A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|4/12|c.146C>T|p.Ser49Leu|359/4118|146/2796|49/931||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|7/14|c.146C>T|p.Ser49Leu|771/4380|146/2646|49/881||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|7/15|c.146C>T|p.Ser49Leu|771/4540|146/2397|49/798||,A|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|7/15|c.146C>T|p.Ser49Leu|771/4530|146/2796|49/931|| 22 40825806 . T C . . ANN=C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|3/11|c.140-35A>G||||||,C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|6/13|c.140-35A>G||||||,C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|6/14|c.140-35A>G||||||,C|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|6/14|c.140-35A>G|||||| 22 40825814 . G A . . ANN=A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|3/11|c.140-43C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|6/13|c.140-43C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|6/14|c.140-43C>T||||||,A|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|6/14|c.140-43C>T|||||| 22 40827397 . C T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|3/11|c.139+12G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|6/13|c.139+12G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|6/14|c.139+12G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|6/14|c.139+12G>A|||||| 22 40831478 . C T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|2/11|c.63+25G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|5/13|c.63+25G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|5/14|c.63+25G>A||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|5/14|c.63+25G>A|||||| 22 40831541 . C T . . ANN=T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282660.1|Coding|2/12|c.25G>A|p.Ala9Thr|238/4118|25/2796|9/931||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282661.1|Coding|5/14|c.25G>A|p.Ala9Thr|650/4380|25/2646|9/881||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_001282662.1|Coding|5/15|c.25G>A|p.Ala9Thr|650/4540|25/2397|9/798||,T|missense_variant|MODERATE|MKL1|MKL1|transcript|NM_020831.4|Coding|5/15|c.25G>A|p.Ala9Thr|650/4530|25/2796|9/931|| 22 40831542 . G A . . ANN=A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282660.1|Coding|2/12|c.24C>T|p.Ala8Ala|237/4118|24/2796|8/931||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282661.1|Coding|5/14|c.24C>T|p.Ala8Ala|649/4380|24/2646|8/881||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_001282662.1|Coding|5/15|c.24C>T|p.Ala8Ala|649/4540|24/2397|8/798||,A|synonymous_variant|LOW|MKL1|MKL1|transcript|NM_020831.4|Coding|5/15|c.24C>T|p.Ala8Ala|649/4530|24/2796|8/931|| 22 40859205 . TGAGA T . . ANN=T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282660.1|Coding|1/11|c.7+16_7+19delTCTC||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282661.1|Coding|4/13|c.7+16_7+19delTCTC||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_001282662.1|Coding|4/14|c.7+16_7+19delTCTC||||||,T|intron_variant|MODIFIER|MKL1|MKL1|transcript|NM_020831.4|Coding|4/14|c.7+16_7+19delTCTC|||||| 22 41075523 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|1/2|c.74C>T|p.Thr25Met|342/2423|74/1269|25/422|| 22 41075532 . A T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|1/2|c.83A>T|p.Asp28Val|351/2423|83/1269|28/422|| 22 41075543 . A G . . ANN=G|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|1/2|c.94A>G|p.Asn32Asp|362/2423|94/1269|32/422|| 22 41075695 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|MCHR1|transcript|NM_005297.3|Coding|1/2|c.246C>T|p.Asn82Asn|514/2423|246/1269|82/422|| 22 41075719 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|MCHR1|transcript|NM_005297.3|Coding|1/2|c.270C>T|p.Pro90Pro|538/2423|270/1269|90/422|| 22 41076969 . G A . . ANN=A|synonymous_variant|LOW|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.306G>A|p.Thr102Thr|574/2423|306/1269|102/422|| 22 41076970 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.307G>A|p.Gly103Arg|575/2423|307/1269|103/422|| 22 41077024 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.361C>T|p.Leu121Phe|629/2423|361/1269|121/422|| 22 41077150 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.487C>T|p.Leu163Leu|755/2423|487/1269|163/422|| 22 41077282 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.619G>A|p.Ala207Thr|887/2423|619/1269|207/422|| 22 41077283 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.620C>T|p.Ala207Val|888/2423|620/1269|207/422|| 22 41077343 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.680C>T|p.Ser227Phe|948/2423|680/1269|227/422|| 22 41077547 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.884C>T|p.Ala295Val|1152/2423|884/1269|295/422|| 22 41077548 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.885C>T|p.Ala295Ala|1153/2423|885/1269|295/422|| 22 41077549 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.886G>A|p.Ala296Thr|1154/2423|886/1269|296/422|| 22 41077612 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.949C>T|p.Arg317Trp|1217/2423|949/1269|317/422|| 22 41077613 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.950G>A|p.Arg317Gln|1218/2423|950/1269|317/422|| 22 41077734 . C T . . ANN=T|synonymous_variant|LOW|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.1071C>T|p.Thr357Thr|1339/2423|1071/1269|357/422|| 22 41077744 . T C . . ANN=C|synonymous_variant|LOW|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.1081T>C|p.Leu361Leu|1349/2423|1081/1269|361/422|| 22 41077804 . A G . . ANN=G|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.1141A>G|p.Ile381Val|1409/2423|1141/1269|381/422|| 22 41077832 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.1169G>A|p.Arg390His|1437/2423|1169/1269|390/422|| 22 41077864 . G A . . ANN=A|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.1201G>A|p.Gly401Arg|1469/2423|1201/1269|401/422|| 22 41077866 . G A . . ANN=A|synonymous_variant|LOW|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.1203G>A|p.Gly401Gly|1471/2423|1203/1269|401/422|| 22 41077873 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.1210C>T|p.Arg404Cys|1478/2423|1210/1269|404/422|| 22 41077895 . C T . . ANN=T|missense_variant|MODERATE|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.1232C>T|p.Thr411Met|1500/2423|1232/1269|411/422|| 22 41077980 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.*48C>T|||||48| 22 41077981 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MCHR1|MCHR1|transcript|NM_005297.3|Coding|2/2|c.*49G>A|||||49| 22 41166819 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|9/9|c.*19A>G|||||19|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|10/10|c.*19A>G|||||19|,C|3_prime_UTR_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|7/7|c.*19A>G|||||19|,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|11/11|n.1406A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|8/8|n.942A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|8/8|n.984A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|6/6|n.814A>G|||||| 22 41166855 . G A . . ANN=A|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|9/9|c.907C>T|p.Arg303Cys|1058/2279|907/924|303/307||,A|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|10/10|c.796C>T|p.Arg266Cys|1111/2332|796/813|266/270||,A|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|7/7|c.688C>T|p.Arg230Cys|839/2060|688/705|230/234||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|11/11|n.1370C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|8/8|n.906C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|8/8|n.948C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|6/6|n.778C>T|||||| 22 41169950 . T C . . ANN=C|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|8/9|c.767A>G|p.Gln256Arg|918/2279|767/924|256/307||,C|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|9/10|c.656A>G|p.Gln219Arg|971/2332|656/813|219/270||,C|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|6/7|c.548A>G|p.Gln183Arg|699/2060|548/705|183/234||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|10/11|n.1230A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|7/8|n.766A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|7/8|n.808A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|5/6|n.638A>G|||||| 22 41169975 . G A . . ANN=A|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|8/9|c.742C>T|p.Arg248Trp|893/2279|742/924|248/307||,A|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|9/10|c.631C>T|p.Arg211Trp|946/2332|631/813|211/270||,A|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|6/7|c.523C>T|p.Arg175Trp|674/2060|523/705|175/234||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|10/11|n.1205C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|7/8|n.741C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|7/8|n.783C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|5/6|n.613C>T|||||| 22 41170063 . T C . . ANN=C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|7/8|c.694-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|8/9|c.583-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|5/6|c.475-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|9/10|n.1157-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|6/7|n.693-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|6/7|n.735-40A>G||||||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|4/5|n.565-40A>G|||||| 22 41173002 . G A . . ANN=A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|7/8|c.693+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|8/9|c.582+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|5/6|c.474+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|9/10|n.1156+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|6/7|n.692+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|6/7|n.734+42C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|4/5|n.564+42C>T|||||| 22 41173106 . C T . . ANN=T|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|7/9|c.631G>A|p.Val211Ile|782/2279|631/924|211/307||,T|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|8/10|c.520G>A|p.Val174Ile|835/2332|520/813|174/270||,T|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|5/7|c.412G>A|p.Val138Ile|563/2060|412/705|138/234||,T|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|9/11|n.1094G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|6/8|n.630G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|6/8|n.672G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|4/6|n.502G>A|||||| 22 41173152 . GGAA G . . ANN=G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|6/8|c.598-16_598-14delTTC||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|7/9|c.487-16_487-14delTTC||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|4/6|c.379-16_379-14delTTC||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|8/10|n.1061-16_1061-14delTTC||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|5/7|n.597-16_597-14delTTC||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|5/7|n.639-16_639-14delTTC||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|3/5|n.469-16_469-14delTTC|||||| 22 41173256 . C T . . ANN=T|synonymous_variant|LOW|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|6/9|c.573G>A|p.Arg191Arg|724/2279|573/924|191/307||,T|synonymous_variant|LOW|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|7/10|c.462G>A|p.Arg154Arg|777/2332|462/813|154/270||,T|synonymous_variant|LOW|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|4/7|c.354G>A|p.Arg118Arg|505/2060|354/705|118/234||,T|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|8/11|n.1036G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|5/8|n.572G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|5/8|n.614G>A||||||,T|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|3/6|n.444G>A|||||| 22 41174979 . C A . . ANN=A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|5/8|c.451+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|6/9|c.340+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|3/6|c.232+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|7/10|n.914+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|4/7|n.450+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|4/7|n.492+34G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|2/5|n.322+34G>T|||||| 22 41175014 . A C . . ANN=C|missense_variant&splice_region_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|5/9|c.450T>G|p.Ile150Met|601/2279|450/924|150/307||,C|missense_variant&splice_region_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|6/10|c.339T>G|p.Ile113Met|654/2332|339/813|113/270||,C|missense_variant&splice_region_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|3/7|c.231T>G|p.Ile77Met|382/2060|231/705|77/234||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|7/11|n.913T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|4/8|n.449T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|4/8|n.491T>G||||||,C|splice_region_variant&non_coding_exon_variant|LOW|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|2/6|n.321T>G|||||| 22 41175065 . T C . . ANN=C|synonymous_variant|LOW|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|5/9|c.399A>G|p.Gly133Gly|550/2279|399/924|133/307||,C|synonymous_variant|LOW|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|6/10|c.288A>G|p.Gly96Gly|603/2332|288/813|96/270||,C|synonymous_variant|LOW|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|3/7|c.180A>G|p.Gly60Gly|331/2060|180/705|60/234||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|7/11|n.862A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|4/8|n.398A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|4/8|n.440A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|2/6|n.270A>G|||||| 22 41188570 . T C . . ANN=C|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|4/9|c.293A>G|p.His98Arg|444/2279|293/924|98/307||,C|missense_variant|MODERATE|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|5/10|c.182A>G|p.His61Arg|497/2332|182/813|61/270||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|2/6|c.115+6457A>G||||||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|3/7|n.333+1948A>G||||||,C|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.206-13441A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|5/11|n.619A>G||||||,C|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|3/8|n.334A>G|||||| 22 41190602 . G A . . ANN=A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|2/8|c.116-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|3/9|c.5-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|2/6|c.115+4425C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|3/10|n.442-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|2/7|n.267-18C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|2/7|n.224-1922C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.206-15473C>T|||||| 22 41190603 . C A . . ANN=A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|2/8|c.116-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|3/9|c.5-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|2/6|c.115+4424G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|3/10|n.442-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|2/7|n.267-19G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|2/7|n.224-1923G>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.206-15474G>T|||||| 22 41190621 . TA T . . ANN=T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|2/8|c.116-38delT||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|3/9|c.5-38delT||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|2/6|c.115+4405delT||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|3/10|n.442-38delT||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|2/7|n.267-38delT||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|2/7|n.224-1942delT||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.206-15493delT|||||| 22 41190631 . A T . . ANN=T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|2/8|c.116-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|3/9|c.5-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|2/6|c.115+4396T>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|3/10|n.442-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|2/7|n.267-47T>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|2/7|n.224-1951T>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.206-15502T>A|||||| 22 41195082 . G A . . ANN=A|synonymous_variant|LOW|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|2/9|c.60C>T|p.Ser20Ser|211/2279|60/924|20/307||,A|synonymous_variant|LOW|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|2/7|c.60C>T|p.Ser20Ser|211/2060|60/705|20/234||,A|5_prime_UTR_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|2/10|c.-105C>T|||||1791|,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|1/7|n.206-38C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.206-19953C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|3/11|n.386C>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|2/8|n.211C>T|||||| 22 41195121 . C T . . ANN=T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|1/8|c.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|1/9|c.-110-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|1/6|c.55-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|2/10|n.381-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|1/7|n.206-34G>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|1/7|n.206-77G>A||||||,T|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.206-19992G>A|||||| 22 41215150 . G A . . ANN=A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|1/8|c.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|1/9|c.-111+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|1/6|c.54+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|1/10|n.205+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|1/7|n.205+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|1/7|n.205+49C>T||||||,A|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.205+49C>T|||||| 22 41215183 . A G . . ANN=G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|1/8|c.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|1/9|c.-111+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|1/6|c.54+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|1/10|n.205+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|1/7|n.205+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|1/7|n.205+16T>C||||||,G|intron_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/5|n.205+16T>C|||||| 22 41215298 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|1/9|c.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|1/10|c.-210G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|1/7|c.-46G>T||||||,A|5_prime_UTR_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_006358.3|Coding|1/9|c.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282726.1|Coding|1/10|c.-210G>T|||||22007|,A|5_prime_UTR_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NM_001282727.1|Coding|1/7|c.-46G>T|||||46|,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104235.1|Noncoding|1/11|n.106G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104236.1|Noncoding|1/8|n.106G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104237.1|Noncoding|1/8|n.106G>T||||||,A|non_coding_exon_variant|MODIFIER|SLC25A17|SLC25A17|transcript|NR_104238.1|Noncoding|1/6|n.106G>T|||||| 22 41222527 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|12/12|c.*15A>G|||||15|,C|3_prime_UTR_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|12/12|c.*15A>G|||||15| 22 41222684 . G A . . ANN=A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|11/11|c.982-14C>T||||||,A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|11/11|c.952-14C>T|||||| 22 41223058 . C A . . ANN=A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|11/11|c.981+42G>T||||||,A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|11/11|c.951+42G>T|||||| 22 41223190 . C T . . ANN=T|missense_variant|MODERATE|ST13|ST13|transcript|NM_003932.4|Coding|11/12|c.891G>A|p.Met297Ile|1359/3581|891/1110|297/369||,T|missense_variant|MODERATE|ST13|ST13|transcript|NM_001278589.1|Coding|11/12|c.861G>A|p.Met287Ile|1329/3551|861/1080|287/359|| 22 41223206 . T C . . ANN=C|missense_variant|MODERATE|ST13|ST13|transcript|NM_003932.4|Coding|11/12|c.875A>G|p.Asn292Ser|1343/3581|875/1110|292/369||,C|missense_variant|MODERATE|ST13|ST13|transcript|NM_001278589.1|Coding|11/12|c.845A>G|p.Asn282Ser|1313/3551|845/1080|282/359|| 22 41223247 . T C . . ANN=C|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|10/11|c.848-14A>G||||||,C|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|10/11|c.818-14A>G|||||| 22 41225613 . C T . . ANN=T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|10/11|c.847+17G>A||||||,T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|10/11|c.817+17G>A|||||| 22 41225691 . AG A . . ANN=A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|9/11|c.799-14delC||||||,A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|9/11|c.769-14delC|||||| 22 41225709 . TAGA T . . ANN=T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|9/11|c.799-34_799-32delTCT||||||,T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|9/11|c.769-34_769-32delTCT|||||| 22 41225726 . GCTGTCCATGCAAC G . . ANN=G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|9/11|c.799-61_799-49delGTTGCATGGACAG||||||,G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|9/11|c.769-61_769-49delGTTGCATGGACAG|||||| 22 41226815 . C G . . ANN=G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|9/11|c.798+29G>C||||||,G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|9/11|c.768+29G>C|||||| 22 41226883 . T G . . ANN=G|synonymous_variant|LOW|ST13|ST13|transcript|NM_003932.4|Coding|9/12|c.759A>C|p.Arg253Arg|1227/3581|759/1110|253/369||,G|synonymous_variant|LOW|ST13|ST13|transcript|NM_001278589.1|Coding|9/12|c.729A>C|p.Arg243Arg|1197/3551|729/1080|243/359|| 22 41228525 . C T . . ANN=T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|8/11|c.681+48G>A||||||,T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|8/11|c.651+48G>A|||||| 22 41231826 . A C . . ANN=C|missense_variant|MODERATE|ST13|ST13|transcript|NM_003932.4|Coding|6/12|c.448T>G|p.Leu150Val|916/3581|448/1110|150/369||,C|missense_variant|MODERATE|ST13|ST13|transcript|NM_001278589.1|Coding|6/12|c.418T>G|p.Leu140Val|886/3551|418/1080|140/359|| 22 41231896 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|ST13|ST13|transcript|NM_003932.4|Coding|5/11|c.383-5T>A||||||,T|splice_region_variant&intron_variant|LOW|ST13|ST13|transcript|NM_001278589.1|Coding|5/11|c.353-5T>A|||||| 22 41236696 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ST13|ST13|transcript|NM_003932.4|Coding|5/12|c.316A>G|p.Ile106Val|784/3581|316/1110|106/369||,C|missense_variant&splice_region_variant|MODERATE|ST13|ST13|transcript|NM_001278589.1|Coding|5/12|c.286A>G|p.Ile96Val|754/3551|286/1080|96/359|| 22 41236729 . G A . . ANN=A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|4/11|c.316-33C>T||||||,A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|4/11|c.286-33C>T|||||| 22 41236745 . G A . . ANN=A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|4/11|c.316-49C>T||||||,A|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|4/11|c.286-49C>T|||||| 22 41240803 . A G . . ANN=G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|4/11|c.315+40T>C||||||,G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|4/11|c.285+40T>C|||||| 22 41240835 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|ST13|ST13|transcript|NM_003932.4|Coding|4/11|c.315+8C>T||||||,A|splice_region_variant&intron_variant|LOW|ST13|ST13|transcript|NM_001278589.1|Coding|4/11|c.285+8C>T|||||| 22 41240846 . C T . . ANN=T|synonymous_variant|LOW|ST13|ST13|transcript|NM_003932.4|Coding|4/12|c.312G>A|p.Ala104Ala|780/3581|312/1110|104/369||,T|synonymous_variant|LOW|ST13|ST13|transcript|NM_001278589.1|Coding|4/12|c.282G>A|p.Ala94Ala|750/3551|282/1080|94/359|| 22 41240909 . A C . . ANN=C|missense_variant|MODERATE|ST13|ST13|transcript|NM_003932.4|Coding|4/12|c.249T>G|p.Ile83Met|717/3581|249/1110|83/369||,C|missense_variant|MODERATE|ST13|ST13|transcript|NM_001278589.1|Coding|4/12|c.219T>G|p.Ile73Met|687/3551|219/1080|73/359|| 22 41244257 . A G . . ANN=G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|3/11|c.244+41T>C||||||,G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|3/11|c.214+41T>C|||||| 22 41244287 . C T . . ANN=T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|3/11|c.244+11G>A||||||,T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|3/11|c.214+11G>A|||||| 22 41244398 . C G . . ANN=G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|2/11|c.169-25G>C||||||,G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|2/11|c.169-55G>C|||||| 22 41246782 . T G . . ANN=G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|2/11|c.168+45A>C||||||,G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|2/11|c.168+45A>C|||||| 22 41246855 . T C . . ANN=C|missense_variant|MODERATE|ST13|ST13|transcript|NM_003932.4|Coding|2/12|c.140A>G|p.Gln47Arg|608/3581|140/1110|47/369||,C|missense_variant|MODERATE|ST13|ST13|transcript|NM_001278589.1|Coding|2/12|c.140A>G|p.Gln47Arg|608/3551|140/1080|47/359|| 22 41246931 . C T . . ANN=T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|1/11|c.111-47G>A||||||,T|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|1/11|c.111-47G>A|||||| 22 41252405 . C G . . ANN=G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|1/11|c.110+30G>C||||||,G|intron_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|1/11|c.110+30G>C|||||| 22 41252523 . C T . . ANN=T|missense_variant|MODERATE|ST13|ST13|transcript|NM_003932.4|Coding|1/12|c.22G>A|p.Glu8Lys|490/3581|22/1110|8/369||,T|missense_variant|MODERATE|ST13|ST13|transcript|NM_001278589.1|Coding|1/12|c.22G>A|p.Glu8Lys|490/3551|22/1080|8/359|| 22 41252584 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|1/12|c.-40G>C|||||40|,G|5_prime_UTR_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|1/12|c.-40G>C|||||40| 22 41252593 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|ST13|ST13|transcript|NM_003932.4|Coding|1/12|c.-49C>T|||||49|,A|5_prime_UTR_variant|MODIFIER|ST13|ST13|transcript|NM_001278589.1|Coding|1/12|c.-49C>T|||||49| 22 41253163 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/10|c.-23C>T|||||23|,T|5_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|1/3|c.-23C>T|||||23| 22 41253248 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/10|c.63A>G|p.Ser21Ser|164/8009|63/1524|21/507||,G|splice_region_variant&synonymous_variant|LOW|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|1/3|c.63A>G|p.Ser21Ser|164/1445|63/168|21/55|| 22 41253293 . A T . . ANN=T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+44A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|1/2|c.64+44A>T|||||| 22 41253296 . G T . . ANN=T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+47G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|1/2|c.64+47G>T|||||| 22 41253297 . A T . . ANN=T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+48A>T||||||,T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|1/2|c.64+48A>T|||||| 22 41257051 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.*18A>G|||||18|,C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+3802T>C||||||,C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*12+254T>C|||||| 22 41257213 . G A . . ANN=A|synonymous_variant|LOW|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.786C>T|p.Phe262Phe|918/2577|786/930|262/309||,A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+3964G>A||||||,A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-409G>A|||||| 22 41257393 . C A . . ANN=A|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.606G>T|p.Lys202Asn|738/2577|606/930|202/309||,A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4144C>A||||||,A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-229C>A|||||| 22 41257440 . C G . . ANN=G|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.559G>C|p.Val187Leu|691/2577|559/930|187/309||,G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4191C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-182C>G|||||| 22 41257470 . C G . . ANN=G|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.529G>C|p.Asp177His|661/2577|529/930|177/309||,G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4221C>G||||||,G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-152C>G|||||| 22 41257503 . C T . . ANN=T|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.496G>A|p.Glu166Lys|628/2577|496/930|166/309||,T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4254C>T||||||,T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-119C>T|||||| 22 41257518 . CCT C . . ANN=C|frameshift_variant|HIGH|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.479_480delAG|p.Gln160fs|612/2577|479/930|160/309||,C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4270_64+4271delCT||||||,C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-103_*13-102delCT||||||;LOF=(DNAJB7|DNAJB7|1|1.00) 22 41257566 . G T . . ANN=T|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.433C>A|p.Pro145Thr|565/2577|433/930|145/309||,T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4317G>T||||||,T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-56G>T|||||| 22 41257567 . A G . . ANN=G|synonymous_variant|LOW|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.432T>C|p.Tyr144Tyr|564/2577|432/930|144/309||,G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4318A>G||||||,G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-55A>G|||||| 22 41257620 . A C . . ANN=C|splice_acceptor_variant&intron_variant|HIGH|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|2/2|c.*13-2A>C||||||,C|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.379T>G|p.Tyr127Asp|511/2577|379/930|127/309||,C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4371A>C||||||;LOF=(XPNPEP3|XPNPEP3|2|0.50) 22 41257628 . C A . . ANN=A|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.371G>T|p.Gly124Val|503/2577|371/930|124/309||,A|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*19C>A|||||843|,A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4379C>A|||||| 22 41257631 . G A . . ANN=A|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.368C>T|p.Pro123Leu|500/2577|368/930|123/309||,A|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*22G>A|||||846|,A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4382G>A|||||| 22 41257739 . C G . . ANN=G|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.260G>C|p.Gly87Ala|392/2577|260/930|87/309||,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*130C>G|||||954|,G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4490C>G|||||| 22 41257741 . G A . . ANN=A|synonymous_variant|LOW|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.258C>T|p.Tyr86Tyr|390/2577|258/930|86/309||,A|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*132G>A|||||956|,A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4492G>A|||||| 22 41257802 . T C . . ANN=C|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.197A>G|p.Asp66Gly|329/2577|197/930|66/309||,C|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*193T>C|||||1017|,C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4553T>C|||||| 22 41257815 . G A . . ANN=A|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.184C>T|p.Arg62Trp|316/2577|184/930|62/309||,A|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*206G>A|||||1030|,A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4566G>A|||||| 22 41257835 . A AC . . ANN=AC|frameshift_variant|HIGH|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.163dupG|p.Val55fs|295/2577|163/930|55/309||,C|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*228dupC|||||1053|INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4588dupC||||||INFO_REALIGN_3_PRIME;LOF=(DNAJB7|DNAJB7|1|1.00) 22 41257853 . ACTT A . . ANN=A|disruptive_inframe_deletion|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.143_145delAAG|p.Glu48del|277/2577|143/930|48/309||,|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*248_*250delCTT|||||1072|INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4608_64+4610delCTT||||||INFO_REALIGN_3_PRIME 22 41257877 . T G . . ANN=G|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.122A>C|p.Glu41Ala|254/2577|122/930|41/309||,G|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*268T>G|||||1092|,G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4628T>G|||||| 22 41257977 . G T . . ANN=T|missense_variant|MODERATE|DNAJB7|DNAJB7|transcript|NM_145174.1|Coding|1/1|c.22C>A|p.Leu8Ile|154/2577|22/930|8/309||,T|3_prime_UTR_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_001204827.1|Coding|3/3|c.*368G>T|||||1192|,T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|1/9|c.64+4728G>T|||||| 22 41265049 . A G . . ANN=G|synonymous_variant|LOW|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|2/10|c.111A>G|p.Pro37Pro|212/8009|111/1524|37/507|| 22 41265054 . G A . . ANN=A|missense_variant|MODERATE|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|2/10|c.116G>A|p.Arg39Lys|217/8009|116/1524|39/507|| 22 41265143 . C T . . ANN=T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|2/9|c.181+24C>T|||||| 22 41277919 . C T . . ANN=T|synonymous_variant|LOW|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|3/10|c.327C>T|p.Asn109Asn|428/8009|327/1524|109/507|| 22 41282308 . C T . . ANN=T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|3/9|c.590-9C>T|||||| 22 41282309 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|3/9|c.590-8A>G|||||| 22 41282324 . G A . . ANN=A|synonymous_variant|LOW|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|4/10|c.597G>A|p.Thr199Thr|698/8009|597/1524|199/507|| 22 41282501 . T C . . ANN=C|synonymous_variant|LOW|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|4/10|c.774T>C|p.Ala258Ala|875/8009|774/1524|258/507|| 22 41282558 . G A . . ANN=A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|4/9|c.792+39G>A|||||| 22 41303615 . A G . . ANN=G|missense_variant|MODERATE|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|5/10|c.817A>G|p.Ser273Gly|918/8009|817/1524|273/507|| 22 41303689 . G A . . ANN=A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|5/9|c.855+36G>A|||||| 22 41305076 . G A . . ANN=A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|5/9|c.856-50G>A|||||| 22 41305106 . CT C . . ANN=C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|5/9|c.856-19delT|||||| 22 41305166 . C T . . ANN=T|missense_variant|MODERATE|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|6/10|c.896C>T|p.Ala299Val|997/8009|896/1524|299/507|| 22 41310203 . C G . . ANN=G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|6/9|c.970-40C>G|||||| 22 41310234 . T C . . ANN=C|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|6/9|c.970-9T>C|||||| 22 41310343 . G A . . ANN=A|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|7/9|c.1055+15G>A|||||| 22 41318328 . C T . . ANN=T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|7/9|c.1056-9C>T|||||| 22 41318329 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|7/9|c.1056-8G>A|||||| 22 41318366 . A C . . ANN=C|missense_variant|MODERATE|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|8/10|c.1085A>C|p.Glu362Ala|1186/8009|1085/1524|362/507|| 22 41318539 . C T . . ANN=T|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|8/9|c.1236+22C>T|||||| 22 41320390 . C G . . ANN=G|missense_variant|MODERATE|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|9/10|c.1261C>G|p.His421Asp|1362/8009|1261/1524|421/507|| 22 41320505 . A G . . ANN=G|intron_variant|MODIFIER|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|9/9|c.1357+19A>G|||||| 22 41322392 . C G . . ANN=G|missense_variant|MODERATE|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|10/10|c.1477C>G|p.Pro493Ala|1578/8009|1477/1524|493/507|| 22 41322422 . T C . . ANN=C|missense_variant|MODERATE|XPNPEP3|XPNPEP3|transcript|NM_022098.3|Coding|10/10|c.1507T>C|p.Cys503Arg|1608/8009|1507/1524|503/507|| 22 41347387 . A C . . ANN=C|5_prime_UTR_variant|MODIFIER|RBX1|RBX1|transcript|NM_014248.3|Coding|1/5|c.-16A>C|||||16| 22 41347390 . G C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|RBX1|RBX1|transcript|NM_014248.3|Coding|1/5|c.-13G>C||||||,C|5_prime_UTR_variant|MODIFIER|RBX1|RBX1|transcript|NM_014248.3|Coding|1/5|c.-13G>C|||||13| 22 41347529 . C A . . ANN=A|intron_variant|MODIFIER|RBX1|RBX1|transcript|NM_014248.3|Coding|1/4|c.78+49C>A|||||| 22 41349511 . G C . . ANN=C|intron_variant|MODIFIER|RBX1|RBX1|transcript|NM_014248.3|Coding|1/4|c.79-48G>C|||||| 22 41360004 . G C . . ANN=C|intron_variant|MODIFIER|RBX1|RBX1|transcript|NM_014248.3|Coding|2/4|c.158-47G>C|||||| 22 41368493 . GAA G . . ANN=|3_prime_UTR_variant|MODIFIER|RBX1|RBX1|transcript|NM_014248.3|Coding|5/5|c.*4_*5delAA|||||4|INFO_REALIGN_3_PRIME 22 41489077 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|1/31|c.69C>T|p.Leu23Leu|464/8761|69/7245|23/2414|| 22 41489115 . A G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|1/30|c.94+13A>G|||||| 22 41489143 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|1/30|c.94+41C>T|||||| 22 41489150 . A G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|1/30|c.94+48A>G|||||| 22 41513175 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|1/30|c.95-16T>C|||||| 22 41513199 . T G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|2/31|c.103T>G|p.Ser35Ala|498/8761|103/7245|35/2414|| 22 41513412 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|2/31|c.316A>G|p.Ser106Gly|711/8761|316/7245|106/2414|| 22 41513472 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|2/31|c.376A>G|p.Met126Val|771/8761|376/7245|126/2414|| 22 41513628 . T C . . ANN=C|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|2/31|c.532T>C|p.Leu178Leu|927/8761|532/7245|178/2414|| 22 41513727 . G A . . ANN=A|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|2/31|c.631G>A|p.Gly211Ser|1026/8761|631/7245|211/2414|| 22 41513746 . A C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|2/31|c.650A>C|p.Asn217Thr|1045/8761|650/7245|217/2414|| 22 41513774 . C G . . ANN=G|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|2/31|c.678C>G|p.Gly226Gly|1073/8761|678/7245|226/2414|| 22 41521848 . CTTTTGTTTCT C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|2/30|c.730-19_730-10delTTTTGTTTCT|||||| 22 41521868 . A T . . ANN=T|missense_variant&splice_region_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|3/31|c.730A>T|p.Met244Leu|1125/8761|730/7245|244/2414|| 22 41521877 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|3/31|c.739A>G|p.Met247Val|1134/8761|739/7245|247/2414|| 22 41522003 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|3/31|c.865A>G|p.Met289Val|1260/8761|865/7245|289/2414|| 22 41523526 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|4/31|c.942C>T|p.Gly314Gly|1337/8761|942/7245|314/2414|| 22 41523688 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|4/31|c.1104C>T|p.His368His|1499/8761|1104/7245|368/2414|| 22 41523759 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|4/30|c.1168+7G>C|||||| 22 41523770 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|4/30|c.1168+18G>A|||||| 22 41523772 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|4/30|c.1168+20T>C|||||| 22 41525845 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|4/30|c.1169-49T>C|||||| 22 41525859 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|4/30|c.1169-35C>T|||||| 22 41526036 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|5/30|c.1282+29T>C|||||| 22 41527376 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|5/30|c.1283-16C>T|||||| 22 41527384 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|5/30|c.1283-8T>C|||||| 22 41527386 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|5/30|c.1283-6C>G|||||| 22 41527628 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|6/31|c.1519A>G|p.Ser507Gly|1914/8761|1519/7245|507/2414|| 22 41527652 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|6/30|c.1528+15T>C|||||| 22 41533637 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|7/30|c.1623-20T>C|||||| 22 41533720 . A C . . ANN=C|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|8/31|c.1686A>C|p.Pro562Pro|2081/8761|1686/7245|562/2414|| 22 41533761 . C A . . ANN=A|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|8/31|c.1727C>A|p.Thr576Asn|2122/8761|1727/7245|576/2414|| 22 41533824 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|8/30|c.1760+30G>A|||||| 22 41536112 . GAT G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|8/30|c.1761-31_1761-30delAT|||||| 22 41536165 . G C . . ANN=C|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|9/31|c.1782G>C|p.Thr594Thr|2177/8761|1782/7245|594/2414|| 22 41536270 . C G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|9/30|c.1878+9C>G|||||| 22 41536274 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|9/30|c.1878+13T>C|||||| 22 41536308 . G T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|9/30|c.1878+47G>T|||||| 22 41537138 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|10/31|c.1965G>A|p.Gln655Gln|2360/8761|1965/7245|655/2414|| 22 41537192 . T C . . ANN=C|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|10/31|c.2019T>C|p.Pro673Pro|2414/8761|2019/7245|673/2414|| 22 41537234 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|10/30|c.2053+8G>T|||||| 22 41537244 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|10/30|c.2053+18T>C|||||| 22 41537268 . A G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|10/30|c.2053+42A>G|||||| 22 41542753 . A G . . ANN=G|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|11/31|c.2064A>G|p.Leu688Leu|2459/8761|2064/7245|688/2414|| 22 41542772 . C T . . ANN=T|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|11/31|c.2083C>T|p.Arg695Cys|2478/8761|2083/7245|695/2414|| 22 41542780 . T G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|11/31|c.2091T>G|p.Ser697Arg|2486/8761|2091/7245|697/2414|| 22 41542837 . A T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|11/30|c.2131+17A>T|||||| 22 41542838 . T A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|11/30|c.2131+18T>A|||||| 22 41542862 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|11/30|c.2131+42G>A|||||| 22 41543796 . A G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|11/30|c.2132-45A>G|||||| 22 41543949 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|12/31|c.2240C>T|p.Pro747Leu|2635/8761|2240/7245|747/2414|| 22 41543983 . C G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|12/30|c.2241+33C>G|||||| 22 41545729 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|13/30|c.2380-36T>C|||||| 22 41545750 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|13/30|c.2380-15T>C|||||| 22 41545884 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|14/31|c.2499G>A|p.Ser833Ser|2894/8761|2499/7245|833/2414|| 22 41545905 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|14/31|c.2520C>T|p.Pro840Pro|2915/8761|2520/7245|840/2414|| 22 41545919 . C G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|14/31|c.2534C>G|p.Thr845Ser|2929/8761|2534/7245|845/2414|| 22 41545957 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|14/31|c.2572A>G|p.Thr858Ala|2967/8761|2572/7245|858/2414|| 22 41545961 . T C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|14/31|c.2576T>C|p.Ile859Thr|2971/8761|2576/7245|859/2414|| 22 41546056 . A C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|14/31|c.2671A>C|p.Thr891Pro|3066/8761|2671/7245|891/2414|| 22 41546131 . T A . . ANN=A|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|14/31|c.2746T>A|p.Ser916Thr|3141/8761|2746/7245|916/2414|| 22 41546158 . C A . . ANN=A|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|14/31|c.2773C>A|p.Pro925Thr|3168/8761|2773/7245|925/2414|| 22 41547873 . T C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|15/31|c.2854T>C|p.Ser952Pro|3249/8761|2854/7245|952/2414|| 22 41547908 . T C . . ANN=C|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|15/31|c.2889T>C|p.Asn963Asn|3284/8761|2889/7245|963/2414|| 22 41547941 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|15/31|c.2922G>A|p.Gln974Gln|3317/8761|2922/7245|974/2414|| 22 41547944 . A G . . ANN=G|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|15/31|c.2925A>G|p.Glu975Glu|3320/8761|2925/7245|975/2414|| 22 41548008 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|15/31|c.2989A>G|p.Ile997Val|3384/8761|2989/7245|997/2414|| 22 41548198 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|15/30|c.2998-12G>A|||||| 22 41548242 . C G . . ANN=G|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|16/31|c.3030C>G|p.Thr1010Thr|3425/8761|3030/7245|1010/2414|| 22 41548275 . T C . . ANN=C|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|16/31|c.3063T>C|p.Thr1021Thr|3458/8761|3063/7245|1021/2414|| 22 41548375 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|16/30|c.3142+21G>A|||||| 22 41550954 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|16/30|c.3143-45C>T|||||| 22 41551039 . T A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|17/31|c.3183T>A|p.Thr1061Thr|3578/8761|3183/7245|1061/2414|| 22 41553160 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|17/30|c.3262-13C>T|||||| 22 41553259 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|18/31|c.3348G>A|p.Gln1116Gln|3743/8761|3348/7245|1116/2414|| 22 41553337 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|18/31|c.3426C>T|p.Cys1142Cys|3821/8761|3426/7245|1142/2414|| 22 41554407 . C A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|18/30|c.3502-9C>A|||||| 22 41556596 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|19/30|c.3591-50G>A|||||| 22 41556625 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|19/30|c.3591-21G>A|||||| 22 41556685 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|20/31|c.3630G>A|p.Gly1210Gly|4025/8761|3630/7245|1210/2414|| 22 41558821 . CT C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|21/30|c.3728+39delT|||||| 22 41560146 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|22/30|c.3806+12C>T|||||| 22 41562562 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|22/30|c.3807-41T>C|||||| 22 41562585 . GTT G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|22/30|c.3807-17_3807-16delTT|||||| 22 41562640 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|23/31|c.3844A>G|p.Thr1282Ala|4239/8761|3844/7245|1282/2414|| 22 41562710 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|23/30|c.3874+40T>C|||||| 22 41564627 . TCTC T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|24/30|c.4025+25_4025+27delCTC|||||| 22 41564708 . C A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|24/30|c.4026-17C>A|||||| 22 41564718 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|24/30|c.4026-7T>C|||||| 22 41564725 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|25/31|c.4026G>A|p.Arg1342Arg|4421/8761|4026/7245|1342/2414|| 22 41564900 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|25/30|c.4172+29G>A|||||| 22 41565468 . A C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|25/30|c.4173-39A>C|||||| 22 41565653 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|26/30|c.4286+33T>C|||||| 22 41565654 . A C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|26/30|c.4286+34A>C|||||| 22 41566360 . T G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|26/30|c.4287-50T>G|||||| 22 41566434 . A C . . ANN=C|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|27/31|c.4311A>C|p.Ala1437Ala|4706/8761|4311/7245|1437/2414|| 22 41566522 . T A . . ANN=A|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|27/31|c.4399T>A|p.Tyr1467Asn|4794/8761|4399/7245|1467/2414|| 22 41566595 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|27/30|c.4452+20C>T|||||| 22 41568480 . T C . . ANN=C|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|27/30|c.4453-23T>C|||||| 22 41568649 . C G . . ANN=G|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|28/31|c.4599C>G|p.Thr1533Thr|4994/8761|4599/7245|1533/2414|| 22 41569591 . AC A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|28/30|c.4618-35delC|||||| 22 41569609 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|28/30|c.4618-18C>T|||||| 22 41569822 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|29/30|c.4779+34G>A|||||| 22 41572210 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|29/30|c.4780-41C>T|||||| 22 41572223 . C CA . . ANN=CA|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|29/30|c.4780-28_4780-27insA|||||| 22 41572269 . C G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|30/31|c.4798C>G|p.Leu1600Val|5193/8761|4798/7245|1600/2414|| 22 41572295 . C G . . ANN=G|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|30/31|c.4824C>G|p.Ser1608Ser|5219/8761|4824/7245|1608/2414|| 22 41572541 . C T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|30/30|c.5061+9C>T|||||| 22 41572542 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|30/30|c.5061+10G>A|||||| 22 41572554 . G A . . ANN=A|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|30/30|c.5061+22G>A|||||| 22 41572559 . A T . . ANN=T|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|30/30|c.5061+27A>T|||||| 22 41572566 . C G . . ANN=G|intron_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|30/30|c.5061+34C>G|||||| 22 41572785 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5070C>T|p.Asp1690Asp|5465/8761|5070/7245|1690/2414|| 22 41572792 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5077A>G|p.Ile1693Val|5472/8761|5077/7245|1693/2414|| 22 41572862 . G C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5147G>C|p.Ser1716Thr|5542/8761|5147/7245|1716/2414|| 22 41572974 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5259C>T|p.Cys1753Cys|5654/8761|5259/7245|1753/2414|| 22 41572986 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5271C>T|p.Ser1757Ser|5666/8761|5271/7245|1757/2414|| 22 41573190 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5475C>T|p.Ala1825Ala|5870/8761|5475/7245|1825/2414|| 22 41573283 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5568G>A|p.Thr1856Thr|5963/8761|5568/7245|1856/2414|| 22 41573319 . G T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5604G>T|p.Thr1868Thr|5999/8761|5604/7245|1868/2414|| 22 41573384 . C G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5669C>G|p.Thr1890Ser|6064/8761|5669/7245|1890/2414|| 22 41573440 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5725A>G|p.Thr1909Ala|6120/8761|5725/7245|1909/2414|| 22 41573523 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5808G>A|p.Ala1936Ala|6203/8761|5808/7245|1936/2414|| 22 41573529 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5814G>A|p.Thr1938Thr|6209/8761|5814/7245|1938/2414|| 22 41573672 . C T . . ANN=T|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.5957C>T|p.Pro1986Leu|6352/8761|5957/7245|1986/2414|| 22 41573798 . C T . . ANN=T|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6083C>T|p.Ala2028Val|6478/8761|6083/7245|2028/2414|| 22 41573806 . C T . . ANN=T|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6091C>T|p.Pro2031Ser|6486/8761|6091/7245|2031/2414|| 22 41573809 . G C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6094G>C|p.Gly2032Arg|6489/8761|6094/7245|2032/2414|| 22 41573823 . A T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6108A>T|p.Val2036Val|6503/8761|6108/7245|2036/2414|| 22 41573925 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6210G>A|p.Val2070Val|6605/8761|6210/7245|2070/2414|| 22 41573977 . C T . . ANN=T|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6262C>T|p.Arg2088Trp|6657/8761|6262/7245|2088/2414|| 22 41574087 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6372C>T|p.Val2124Val|6767/8761|6372/7245|2124/2414|| 22 41574105 . G A . . ANN=A|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6390G>A|p.Met2130Ile|6785/8761|6390/7245|2130/2414|| 22 41574132 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6417C>T|p.Gly2139Gly|6812/8761|6417/7245|2139/2414|| 22 41574196 . A G . . ANN=G|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6481A>G|p.Met2161Val|6876/8761|6481/7245|2161/2414|| 22 41574351 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6636G>A|p.Gln2212Gln|7031/8761|6636/7245|2212/2414|| 22 41574356 . C T . . ANN=T|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6641C>T|p.Pro2214Leu|7036/8761|6641/7245|2214/2414|| 22 41574357 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6642C>T|p.Pro2214Pro|7037/8761|6642/7245|2214/2414|| 22 41574383 . A C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6668A>C|p.Gln2223Pro|7063/8761|6668/7245|2223/2414|| 22 41574510 . TCAG T . . ANN=|disruptive_inframe_deletion|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6798_6800delGCA|p.Gln2267del|7193/8761|6798/7245|2266/2414||INFO_REALIGN_3_PRIME 22 41574570 . C T . . ANN=T|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6855C>T|p.Leu2285Leu|7250/8761|6855/7245|2285/2414|| 22 41574666 . G A . . ANN=A|synonymous_variant|LOW|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6951G>A|p.Arg2317Arg|7346/8761|6951/7245|2317/2414|| 22 41574685 . C T . . ANN=T|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6970C>T|p.His2324Tyr|7365/8761|6970/7245|2324/2414|| 22 41574697 . T C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.6982T>C|p.Ser2328Pro|7377/8761|6982/7245|2328/2414|| 22 41574730 . C T . . ANN=T|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.7015C>T|p.His2339Tyr|7410/8761|7015/7245|2339/2414|| 22 41574932 . T C . . ANN=C|missense_variant|MODERATE|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.7217T>C|p.Leu2406Pro|7612/8761|7217/7245|2406/2414|| 22 41574966 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.*6C>A|||||6| 22 41574969 . TGTA T . . ANN=|3_prime_UTR_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.*13_*15delGTA|||||13|INFO_REALIGN_3_PRIME 22 41574976 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|EP300|EP300|transcript|NM_001429.3|Coding|31/31|c.*16T>G|||||16| 22 41601385 . A G . . ANN=G|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|1/17|c.19A>G|p.Ile7Val|73/3192|19/2118|7/705|| 22 41605741 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|2/17|c.66C>T|p.Asp22Asp|120/3192|66/2118|22/705|| 22 41605776 . G C . . ANN=C|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|2/17|c.101G>C|p.Arg34Pro|155/3192|101/2118|34/705|| 22 41605809 . G C . . ANN=C|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|2/17|c.134G>C|p.Ser45Thr|188/3192|134/2118|45/705|| 22 41605892 . A G . . ANN=G|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|2/17|c.217A>G|p.Ser73Gly|271/3192|217/2118|73/705|| 22 41605948 . A C . . ANN=C|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|2/16|c.262+11A>C|||||| 22 41609859 . T C . . ANN=C|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|2/16|c.263-38T>C|||||| 22 41610024 . G A . . ANN=A|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|3/17|c.390G>A|p.Arg130Arg|444/3192|390/2118|130/705|| 22 41610059 . G A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|3/16|c.396+29G>A|||||| 22 41612265 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|4/17|c.519C>T|p.Asp173Asp|573/3192|519/2118|173/705|| 22 41612295 . A G . . ANN=G|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|4/16|c.520+29A>G|||||| 22 41613188 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|5/17|c.582C>T|p.Pro194Pro|636/3192|582/2118|194/705|| 22 41613246 . G A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|5/16|c.600+40G>A|||||| 22 41613250 . C A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|5/16|c.600+44C>A|||||| 22 41615376 . C T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|5/16|c.601-47C>T|||||| 22 41615404 . C T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|5/16|c.601-19C>T|||||| 22 41615581 . G A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|6/16|c.718+41G>A|||||| 22 41616696 . C T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|6/16|c.719-42C>T|||||| 22 41616757 . G C . . ANN=C|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|7/17|c.738G>C|p.Arg246Arg|792/3192|738/2118|246/705|| 22 41616778 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|7/17|c.759C>T|p.Asp253Asp|813/3192|759/2118|253/705|| 22 41616805 . G T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|7/17|c.786G>T|p.Leu262Leu|840/3192|786/2118|262/705|| 22 41616906 . C T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|7/16|c.853+34C>T|||||| 22 41617159 . G GC,GT . . ANN=GC|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|7/16|c.854-44_854-43insC||||||,GT|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|7/16|c.854-44_854-43insT|||||| 22 41617160 . T TG . . ANN=TG|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|7/16|c.854-43_854-42insG|||||| 22 41617247 . C T . . ANN=T|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|8/17|c.898C>T|p.Arg300Trp|952/3192|898/2118|300/705|| 22 41617318 . G C . . ANN=C|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|8/16|c.942+27G>C|||||| 22 41620091 . T C . . ANN=C|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|9/17|c.1010T>C|p.Val337Ala|1064/3192|1010/2118|337/705|| 22 41620681 . G T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|9/16|c.1175-48G>T|||||| 22 41620825 . C T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|10/16|c.1251+20C>T|||||| 22 41621057 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|11/17|c.1338C>T|p.Cys446Cys|1392/3192|1338/2118|446/705|| 22 41621086 . G A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|11/16|c.1356+11G>A|||||| 22 41621751 . G T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|11/16|c.1357-47G>T|||||| 22 41621788 . C T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|11/16|c.1357-10C>T|||||| 22 41621871 . A C . . ANN=C|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|12/17|c.1430A>C|p.Tyr477Ser|1484/3192|1430/2118|477/705|| 22 41622663 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|12/16|c.1505-3C>T|||||| 22 41622724 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|13/17|c.1563C>T|p.Ala521Ala|1617/3192|1563/2118|521/705|| 22 41622770 . A G . . ANN=G|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|13/16|c.1587+22A>G|||||| 22 41622781 . G A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|13/16|c.1587+33G>A|||||| 22 41623179 . G A . . ANN=A|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|14/17|c.1674G>A|p.Val558Val|1728/3192|1674/2118|558/705|| 22 41623305 . G A . . ANN=A|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|14/17|c.1800G>A|p.Gln600Gln|1854/3192|1800/2118|600/705|| 22 41623324 . G T . . ANN=T|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|14/17|c.1819G>T|p.Ala607Ser|1873/3192|1819/2118|607/705|| 22 41623346 . C T . . ANN=T|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|14/16|c.1822+19C>T|||||| 22 41623351 . A G . . ANN=G|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|14/16|c.1822+24A>G|||||| 22 41623773 . T C . . ANN=C|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|14/16|c.1823-35T>C|||||| 22 41623888 . G A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|15/16|c.1888+15G>A|||||| 22 41623890 . T A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|15/16|c.1888+17T>A|||||| 22 41625554 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|16/17|c.1899C>T|p.Ile633Ile|1953/3192|1899/2118|633/705||,T|3_prime_UTR_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|6/6|c.*154G>A|||||154| 22 41625582 . CAG C . . ANN=C|frameshift_variant|HIGH|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|16/17|c.1928_1929delAG|p.Gln643fs|1982/3192|1928/2118|643/705||,C|3_prime_UTR_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|6/6|c.*124_*125delCT|||||124|;LOF=(L3MBTL2|L3MBTL2|1|1.00) 22 41625590 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|16/17|c.1935C>T|p.Ser645Ser|1989/3192|1935/2118|645/705||,T|3_prime_UTR_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|6/6|c.*118G>A|||||118| 22 41625611 . C T . . ANN=T|synonymous_variant|LOW|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|16/17|c.1956C>T|p.Asp652Asp|2010/3192|1956/2118|652/705||,T|3_prime_UTR_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|6/6|c.*97G>A|||||97| 22 41625709 . C CA . . ANN=CA|frameshift_variant&stop_lost|HIGH|CHADL|CHADL|transcript|NM_138481.1|Coding|6/6|c.2287dupT|p.Ter763fs|2337/2533|2287/2289|763/762||,A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|16/16|c.2005+50dupA||||||INFO_REALIGN_3_PRIME 22 41626111 . C A . . ANN=A|intron_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|16/16|c.2006-32C>A||||||,A|intron_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|5/5|c.2263-377G>T|||||| 22 41626190 . G A . . ANN=A|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|17/17|c.2053G>A|p.Asp685Asn|2107/3192|2053/2118|685/705||,A|intron_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|5/5|c.2263-456C>T|||||| 22 41626245 . C T . . ANN=T|missense_variant|MODERATE|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|17/17|c.2108C>T|p.Thr703Ile|2162/3192|2108/2118|703/705||,T|intron_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|5/5|c.2263-511G>A|||||| 22 41626255 . A G . . ANN=G|stop_lost|HIGH|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|17/17|c.2118A>G|p.Ter706Trpext*?|2172/3192|2118/2118|706/705||,G|intron_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|5/5|c.2263-521T>C|||||| 22 41626269 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|L3MBTL2|L3MBTL2|transcript|NM_031488.4|Coding|17/17|c.*14C>T|||||14|,T|intron_variant|MODIFIER|CHADL|CHADL|transcript|NM_138481.1|Coding|5/5|c.2263-535G>A|||||| 22 41642642 . G A . . ANN=A|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|17/17|c.1729C>T|p.Arg577Cys|2494/4355|1729/1764|577/587||,A|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|16/16|c.1729C>T|p.Arg577Cys|2033/3894|1729/1764|577/587|| 22 41645303 . G T . . ANN=T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|16/16|c.1694+31C>A||||||,T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|15/15|c.1694+31C>A|||||| 22 41645309 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|16/16|c.1694+25C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|15/15|c.1694+25C>T|||||| 22 41645341 . C G . . ANN=G|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|16/17|c.1687G>C|p.Val563Leu|2452/4355|1687/1764|563/587||,G|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|15/16|c.1687G>C|p.Val563Leu|1991/3894|1687/1764|563/587|| 22 41645500 . TG T . . ANN=T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|15/16|c.1573-46delC||||||,T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|14/15|c.1573-46delC|||||| 22 41645707 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|15/16|c.1572+26C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|14/15|c.1572+26C>T|||||| 22 41645724 . C T . . ANN=T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|15/16|c.1572+9G>A||||||,T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|14/15|c.1572+9G>A|||||| 22 41645757 . C G . . ANN=G|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|15/17|c.1548G>C|p.Leu516Leu|2313/4355|1548/1764|516/587||,G|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|14/16|c.1548G>C|p.Leu516Leu|1852/3894|1548/1764|516/587|| 22 41645827 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|14/16|c.1484-6C>T||||||,A|splice_region_variant&intron_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|13/15|c.1484-6C>T|||||| 22 41645871 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|14/16|c.1484-50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|13/15|c.1484-50C>T|||||| 22 41648860 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|13/16|c.1380+16C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|12/15|c.1380+16C>T|||||| 22 41648966 . A G . . ANN=G|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|13/17|c.1290T>C|p.Pro430Pro|2055/4355|1290/1764|430/587||,G|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|12/16|c.1290T>C|p.Pro430Pro|1594/3894|1290/1764|430/587|| 22 41648994 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|13/17|c.1262A>G|p.Glu421Gly|2027/4355|1262/1764|421/587||,C|missense_variant&splice_region_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|12/16|c.1262A>G|p.Glu421Gly|1566/3894|1262/1764|421/587|| 22 41650338 . G A,C,T . . ANN=A|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|12/17|c.1234C>T|p.Arg412Trp|1999/4355|1234/1764|412/587||,C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|12/17|c.1234C>G|p.Arg412Gly|1999/4355|1234/1764|412/587||,A|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|11/16|c.1234C>T|p.Arg412Trp|1538/3894|1234/1764|412/587||,C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|11/16|c.1234C>G|p.Arg412Gly|1538/3894|1234/1764|412/587||,T|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|12/17|c.1234C>A|p.Arg412Arg|1999/4355|1234/1764|412/587||,T|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|11/16|c.1234C>A|p.Arg412Arg|1538/3894|1234/1764|412/587|| 22 41650371 . G C . . ANN=C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|12/17|c.1201C>G|p.Arg401Gly|1966/4355|1201/1764|401/587||,C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|11/16|c.1201C>G|p.Arg401Gly|1505/3894|1201/1764|401/587|| 22 41650387 . TTCC T . . ANN=T|disruptive_inframe_deletion|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|12/17|c.1182_1184delGGA|p.Glu395del|1949/4355|1182/1764|394/587||,T|disruptive_inframe_deletion|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|11/16|c.1182_1184delGGA|p.Glu395del|1488/3894|1182/1764|394/587|| 22 41650414 . CTCTTCCTCA C . . ANN=C|disruptive_inframe_deletion|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|12/17|c.1149_1157delTGAGGAAGA|p.Asp383_Glu385del|1922/4355|1149/1764|383/587||,C|disruptive_inframe_deletion|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|11/16|c.1149_1157delTGAGGAAGA|p.Asp383_Glu385del|1461/3894|1149/1764|383/587|| 22 41650417 . TTCC T . . ANN=T|disruptive_inframe_deletion|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|12/17|c.1152_1154delGGA|p.Glu385del|1919/4355|1152/1764|384/587||,T|disruptive_inframe_deletion|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|11/16|c.1152_1154delGGA|p.Glu385del|1458/3894|1152/1764|384/587|| 22 41650548 . T G . . ANN=G|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|11/16|c.1074-50A>C||||||,G|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|10/15|c.1074-50A>C|||||| 22 41651996 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|11/16|c.1073+29C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|10/15|c.1073+29C>T|||||| 22 41652030 . G C . . ANN=C|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|11/17|c.1068C>G|p.Ser356Ser|1833/4355|1068/1764|356/587||,C|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|10/16|c.1068C>G|p.Ser356Ser|1372/3894|1068/1764|356/587|| 22 41652080 . G C . . ANN=C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|11/17|c.1018C>G|p.Gln340Glu|1783/4355|1018/1764|340/587||,C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|10/16|c.1018C>G|p.Gln340Glu|1322/3894|1018/1764|340/587|| 22 41652120 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|10/16|c.989-11C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|9/15|c.989-11C>T|||||| 22 41652250 . C T . . ANN=T|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|10/17|c.933G>A|p.Leu311Leu|1698/4355|933/1764|311/587||,T|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|9/16|c.933G>A|p.Leu311Leu|1237/3894|933/1764|311/587|| 22 41652257 . G C . . ANN=C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|10/17|c.926C>G|p.Ala309Gly|1691/4355|926/1764|309/587||,C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|9/16|c.926C>G|p.Ala309Gly|1230/3894|926/1764|309/587|| 22 41652332 . C T . . ANN=T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|9/16|c.889-38G>A||||||,T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|8/15|c.889-38G>A|||||| 22 41652679 . C A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|9/16|c.888+36G>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|8/15|c.888+36G>T|||||| 22 41652733 . G A . . ANN=A|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|9/17|c.870C>T|p.Gly290Gly|1635/4355|870/1764|290/587||,A|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|8/16|c.870C>T|p.Gly290Gly|1174/3894|870/1764|290/587|| 22 41652846 . G T . . ANN=T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|8/16|c.775-18C>A||||||,T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|7/15|c.775-18C>A|||||| 22 41653902 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|8/16|c.774+50C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|7/15|c.774+50C>T|||||| 22 41653910 . C T . . ANN=T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|8/16|c.774+42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|7/15|c.774+42G>A|||||| 22 41653946 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|8/16|c.774+6G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|7/15|c.774+6G>A|||||| 22 41654030 . G A . . ANN=A|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|8/17|c.696C>T|p.Phe232Phe|1461/4355|696/1764|232/587||,A|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|7/16|c.696C>T|p.Phe232Phe|1000/3894|696/1764|232/587|| 22 41654123 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|7/16|c.616-13C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|6/15|c.616-13C>T|||||| 22 41657442 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|7/16|c.615+8G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|6/15|c.615+8G>A|||||| 22 41657451 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|7/17|c.614G>A|p.Arg205Lys|1379/4355|614/1764|205/587||,T|missense_variant&splice_region_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|6/16|c.614G>A|p.Arg205Lys|918/3894|614/1764|205/587|| 22 41657477 . G A . . ANN=A|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|7/17|c.588C>T|p.Gly196Gly|1353/4355|588/1764|196/587||,A|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|6/16|c.588C>T|p.Gly196Gly|892/3894|588/1764|196/587|| 22 41657511 . A G . . ANN=G|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|7/17|c.554T>C|p.Phe185Ser|1319/4355|554/1764|185/587||,G|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|6/16|c.554T>C|p.Phe185Ser|858/3894|554/1764|185/587|| 22 41657598 . C T . . ANN=T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|6/16|c.481-14G>A||||||,T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|5/15|c.481-14G>A|||||| 22 41657608 . T C . . ANN=C|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|6/16|c.481-24A>G||||||,C|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|5/15|c.481-24A>G|||||| 22 41657626 . C T . . ANN=T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|6/16|c.481-42G>A||||||,T|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|5/15|c.481-42G>A|||||| 22 41660645 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|6/16|c.480+23C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|5/15|c.480+23C>T|||||| 22 41660665 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|6/16|c.480+3G>A||||||,T|splice_region_variant&intron_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|5/15|c.480+3G>A|||||| 22 41660751 . C G . . ANN=G|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|6/17|c.397G>C|p.Glu133Gln|1162/4355|397/1764|133/587||,G|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|5/16|c.397G>C|p.Glu133Gln|701/3894|397/1764|133/587|| 22 41660879 . T C . . ANN=C|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|5/16|c.301-32A>G||||||,C|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|4/15|c.301-32A>G|||||| 22 41664071 . G A . . ANN=A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|5/16|c.300+30C>T||||||,A|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|4/15|c.300+30C>T|||||| 22 41664085 . C G . . ANN=G|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|5/16|c.300+16G>C||||||,G|intron_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|4/15|c.300+16G>C|||||| 22 41670623 . T C . . ANN=C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|4/17|c.221A>G|p.Glu74Gly|986/4355|221/1764|74/587||,C|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|3/16|c.221A>G|p.Glu74Gly|525/3894|221/1764|74/587|| 22 41676968 . G C . . ANN=C|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|3/17|c.81C>G|p.Gly27Gly|846/4355|81/1764|27/587||,C|synonymous_variant|LOW|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|2/16|c.81C>G|p.Gly27Gly|385/3894|81/1764|27/587|| 22 41676991 . C T . . ANN=T|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|3/17|c.58G>A|p.Gly20Arg|823/4355|58/1764|20/587||,T|missense_variant|MODERATE|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|2/16|c.58G>A|p.Gly20Arg|362/3894|58/1764|20/587|| 22 41677050 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_001278651.1|Coding|3/17|c.-2A>G|||||2|,C|5_prime_UTR_variant|MODIFIER|RANGAP1|RANGAP1|transcript|NM_002883.3|Coding|2/16|c.-2A>G|||||2| 22 41721539 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|2/22|c.54-29C>T|||||| 22 41721792 . A G . . ANN=G|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|4/23|c.155A>G|p.Tyr52Cys|431/5928|155/2934|52/977|| 22 41721853 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|4/23|c.216C>T|p.Asp72Asp|492/5928|216/2934|72/977|| 22 41721905 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|4/23|c.268G>A|p.Ala90Thr|544/5928|268/2934|90/977|| 22 41721949 . C G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|4/22|c.285+27C>G|||||| 22 41723248 . G A . . ANN=A|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|5/23|c.324G>A|p.Ala108Ala|600/5928|324/2934|108/977|| 22 41723315 . C T . . ANN=T|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|5/23|c.391C>T|p.Arg131Cys|667/5928|391/2934|131/977|| 22 41723316 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|5/23|c.392G>A|p.Arg131His|668/5928|392/2934|131/977|| 22 41723393 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|5/22|c.444+25C>T|||||| 22 41726003 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|5/22|c.445-24C>T|||||| 22 41726004 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|5/22|c.445-23G>A|||||| 22 41726053 . G A . . ANN=A|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|6/23|c.471G>A|p.Gln157Gln|747/5928|471/2934|157/977|| 22 41726079 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|6/23|c.497G>A|p.Arg166Gln|773/5928|497/2934|166/977|| 22 41726080 . A G . . ANN=G|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|6/23|c.498A>G|p.Arg166Arg|774/5928|498/2934|166/977|| 22 41728205 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|7/23|c.556G>A|p.Gly186Ser|832/5928|556/2934|186/977|| 22 41728213 . G A . . ANN=A|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|7/23|c.564G>A|p.Ala188Ala|840/5928|564/2934|188/977|| 22 41728239 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|7/22|c.582+8C>T|||||| 22 41728242 . G T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|7/22|c.582+11G>T|||||| 22 41728274 . T C . . ANN=C|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|7/22|c.582+43T>C|||||| 22 41734292 . CGCCA C . . ANN=C|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|7/22|c.583-24_583-21delGCCA|||||| 22 41734296 . A T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|7/22|c.583-21A>T|||||| 22 41734988 . G C . . ANN=C|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|8/22|c.626-17G>C|||||| 22 41735050 . C T . . ANN=T|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|9/23|c.671C>T|p.Thr224Met|947/5928|671/2934|224/977|| 22 41735075 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|9/23|c.696C>T|p.His232His|972/5928|696/2934|232/977|| 22 41735108 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|9/23|c.729C>T|p.Ser243Ser|1005/5928|729/2934|243/977|| 22 41735958 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|10/23|c.955G>A|p.Ala319Thr|1231/5928|955/2934|319/977|| 22 41735999 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|10/23|c.996C>T|p.Ala332Ala|1272/5928|996/2934|332/977|| 22 41736090 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|10/23|c.1087G>A|p.Asp363Asn|1363/5928|1087/2934|363/977|| 22 41736138 . A C . . ANN=C|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|10/23|c.1135A>C|p.Met379Leu|1411/5928|1135/2934|379/977|| 22 41736188 . A C . . ANN=C|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|10/22|c.1138+47A>C|||||| 22 41737045 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|10/22|c.1139-47C>T|||||| 22 41737126 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|11/23|c.1173C>T|p.Ser391Ser|1449/5928|1173/2934|391/977|| 22 41737160 . T C . . ANN=C|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|11/22|c.1197+10T>C|||||| 22 41738660 . C G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|12/22|c.1297+28C>G|||||| 22 41738668 . A G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|12/22|c.1297+36A>G|||||| 22 41739370 . T C . . ANN=C|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|12/22|c.1298-49T>C|||||| 22 41739451 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|13/23|c.1330G>A|p.Gly444Ser|1606/5928|1330/2934|444/977|| 22 41739486 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|13/23|c.1365C>T|p.Leu455Leu|1641/5928|1365/2934|455/977|| 22 41739597 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|13/22|c.1459+17G>A|||||| 22 41739610 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|13/22|c.1459+30C>T|||||| 22 41739618 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|13/22|c.1459+38G>A|||||| 22 41741970 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|13/22|c.1460-37C>T|||||| 22 41742139 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/23|c.1592G>A|p.Gly531Asp|1868/5928|1592/2934|531/977|| 22 41742149 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/23|c.1602C>T|p.Arg534Arg|1878/5928|1602/2934|534/977|| 22 41742150 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/23|c.1603G>A|p.Gly535Ser|1879/5928|1603/2934|535/977|| 22 41742164 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/23|c.1617C>T|p.Ile539Ile|1893/5928|1617/2934|539/977|| 22 41742209 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/23|c.1662C>T|p.Cys554Cys|1938/5928|1662/2934|554/977|| 22 41742229 . C G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/22|c.1665+17C>G|||||| 22 41742237 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/22|c.1665+25C>T|||||| 22 41742241 . A G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/22|c.1665+29A>G|||||| 22 41744022 . C G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|14/22|c.1666-49C>G|||||| 22 41744145 . T G . . ANN=G|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|15/23|c.1740T>G|p.Ala580Ala|2016/5928|1740/2934|580/977|| 22 41745095 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|15/22|c.1767-29C>T|||||| 22 41745115 . GC G . . ANN=G|splice_region_variant&intron_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|15/22|c.1767-8delC|||||| 22 41745316 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|16/22|c.1948+11G>A|||||| 22 41745355 . A G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|16/22|c.1948+50A>G|||||| 22 41747576 . G A . . ANN=A|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|17/23|c.1960G>A|p.Glu654Lys|2236/5928|1960/2934|654/977|| 22 41751437 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|17/22|c.2035-36G>A|||||| 22 41751488 . C T . . ANN=T|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|18/23|c.2050C>T|p.His684Tyr|2326/5928|2050/2934|684/977|| 22 41751526 . A G . . ANN=G|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|18/23|c.2088A>G|p.Val696Val|2364/5928|2088/2934|696/977|| 22 41751599 . C T . . ANN=T|missense_variant|MODERATE|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|18/23|c.2161C>T|p.Arg721Trp|2437/5928|2161/2934|721/977|| 22 41751910 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|19/22|c.2274+44G>A|||||| 22 41752102 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|20/22|c.2383+36G>A|||||| 22 41752113 . A G . . ANN=G|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|20/22|c.2383+47A>G|||||| 22 41752302 . TGGA T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|20/22|c.2384-44_2384-42delGGA|||||| 22 41752493 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|21/22|c.2517+13C>T|||||| 22 41752505 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|21/22|c.2517+25G>A|||||| 22 41752513 . G A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|21/22|c.2517+33G>A|||||| 22 41752645 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|21/22|c.2518-4C>G|||||| 22 41752747 . G A . . ANN=A|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|22/23|c.2616G>A|p.Thr872Thr|2892/5928|2616/2934|872/977|| 22 41752804 . C T . . ANN=T|synonymous_variant|LOW|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|22/23|c.2673C>T|p.Leu891Leu|2949/5928|2673/2934|891/977|| 22 41752838 . C T . . ANN=T|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|22/22|c.2681+26C>T|||||| 22 41753135 . T A . . ANN=A|intron_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|22/22|c.2682-46T>A|||||| 22 41753444 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|23/23|c.*11T>C|||||11| 22 41753466 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|ZC3H7B|ZC3H7B|transcript|NM_017590.5|Coding|23/23|c.*33G>T|||||33| 22 41778228 . C A . . ANN=A|intron_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|1/3|c.157+23C>A||||||,A|intron_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|1/3|c.68-5127C>A|||||| 22 41778236 . G T . . ANN=T|intron_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|1/3|c.157+31G>T||||||,T|intron_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|1/3|c.68-5119G>T|||||| 22 41778250 . T C . . ANN=C|intron_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|1/3|c.157+45T>C||||||,C|intron_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|1/3|c.68-5105T>C|||||| 22 41783389 . C T . . ANN=T|synonymous_variant|LOW|TEF|TEF|transcript|NM_003216.3|Coding|2/4|c.192C>T|p.Asp64Asp|308/4396|192/912|64/303||,T|synonymous_variant|LOW|TEF|TEF|transcript|NM_001145398.2|Coding|2/4|c.102C>T|p.Asp34Asp|302/4390|102/822|34/273|| 22 41783530 . C T . . ANN=T|synonymous_variant|LOW|TEF|TEF|transcript|NM_003216.3|Coding|2/4|c.333C>T|p.Pro111Pro|449/4396|333/912|111/303||,T|synonymous_variant|LOW|TEF|TEF|transcript|NM_001145398.2|Coding|2/4|c.243C>T|p.Pro81Pro|443/4390|243/822|81/273|| 22 41783610 . C T . . ANN=T|missense_variant|MODERATE|TEF|TEF|transcript|NM_003216.3|Coding|2/4|c.413C>T|p.Thr138Ile|529/4396|413/912|138/303||,T|missense_variant|MODERATE|TEF|TEF|transcript|NM_001145398.2|Coding|2/4|c.323C>T|p.Thr108Ile|523/4390|323/822|108/273|| 22 41783659 . C T . . ANN=T|synonymous_variant|LOW|TEF|TEF|transcript|NM_003216.3|Coding|2/4|c.462C>T|p.Thr154Thr|578/4396|462/912|154/303||,T|synonymous_variant|LOW|TEF|TEF|transcript|NM_001145398.2|Coding|2/4|c.372C>T|p.Thr124Thr|572/4390|372/822|124/273|| 22 41790179 . G A . . ANN=A|synonymous_variant|LOW|TEF|TEF|transcript|NM_003216.3|Coding|3/4|c.555G>A|p.Pro185Pro|671/4396|555/912|185/303||,A|synonymous_variant|LOW|TEF|TEF|transcript|NM_001145398.2|Coding|3/4|c.465G>A|p.Pro155Pro|665/4390|465/822|155/273|| 22 41790308 . C T . . ANN=T|synonymous_variant|LOW|TEF|TEF|transcript|NM_003216.3|Coding|3/4|c.684C>T|p.Pro228Pro|800/4396|684/912|228/303||,T|synonymous_variant|LOW|TEF|TEF|transcript|NM_001145398.2|Coding|3/4|c.594C>T|p.Pro198Pro|794/4390|594/822|198/273|| 22 41790354 . C T . . ANN=T|intron_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|3/3|c.696+34C>T||||||,T|intron_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|3/3|c.606+34C>T|||||| 22 41790359 . G A . . ANN=A|intron_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|3/3|c.696+39G>A||||||,A|intron_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|3/3|c.606+39G>A|||||| 22 41791719 . G A . . ANN=A|intron_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|3/3|c.697-30G>A||||||,A|intron_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|3/3|c.607-30G>A|||||| 22 41791972 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|4/4|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|4/4|c.*8C>T|||||8| 22 41791983 . GC G . . ANN=G|3_prime_UTR_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|4/4|c.*20delC|||||20|,G|3_prime_UTR_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|4/4|c.*20delC|||||20| 22 41791985 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|4/4|c.*21G>A|||||21|,A|3_prime_UTR_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|4/4|c.*21G>A|||||21| 22 41791990 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|TEF|TEF|transcript|NM_003216.3|Coding|4/4|c.*26A>G|||||26|,G|3_prime_UTR_variant|MODIFIER|TEF|TEF|transcript|NM_001145398.2|Coding|4/4|c.*26A>G|||||26| 22 41832484 . C T . . ANN=T|missense_variant|MODERATE|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.866G>A|p.Ser289Asn|1573/4565|866/1035|289/344|| 22 41832485 . T C . . ANN=C|missense_variant|MODERATE|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.865A>G|p.Ser289Gly|1572/4565|865/1035|289/344|| 22 41832498 . G C . . ANN=C|synonymous_variant|LOW|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.852C>G|p.Gly284Gly|1559/4565|852/1035|284/344|| 22 41832522 . A G . . ANN=G|synonymous_variant|LOW|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.828T>C|p.Asp276Asp|1535/4565|828/1035|276/344|| 22 41832561 . G A . . ANN=A|synonymous_variant|LOW|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.789C>T|p.Asn263Asn|1496/4565|789/1035|263/344|| 22 41832562 . T C . . ANN=C|missense_variant|MODERATE|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.788A>G|p.Asn263Ser|1495/4565|788/1035|263/344|| 22 41832698 . G A . . ANN=A|missense_variant|MODERATE|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.652C>T|p.Arg218Cys|1359/4565|652/1035|218/344|| 22 41832726 . C T . . ANN=T|synonymous_variant|LOW|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.624G>A|p.Ala208Ala|1331/4565|624/1035|208/344|| 22 41832816 . G A . . ANN=A|synonymous_variant|LOW|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.534C>T|p.Thr178Thr|1241/4565|534/1035|178/344|| 22 41832989 . C T . . ANN=T|missense_variant|MODERATE|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.361G>A|p.Gly121Ser|1068/4565|361/1035|121/344|| 22 41832990 . G A . . ANN=A|synonymous_variant|LOW|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.360C>T|p.Cys120Cys|1067/4565|360/1035|120/344|| 22 41833080 . C T . . ANN=T|synonymous_variant|LOW|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.270G>A|p.Leu90Leu|977/4565|270/1035|90/344|| 22 41833116 . C T . . ANN=T|synonymous_variant|LOW|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.234G>A|p.Ala78Ala|941/4565|234/1035|78/344|| 22 41833136 . C T . . ANN=T|missense_variant|MODERATE|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.214G>A|p.Ala72Thr|921/4565|214/1035|72/344|| 22 41833225 . C G . . ANN=G|missense_variant|MODERATE|TOB2|TOB2|transcript|NM_016272.3|Coding|2/2|c.125G>C|p.Gly42Ala|832/4565|125/1035|42/344|| 22 41856377 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|4/4|c.*25C>A|||||25| 22 41856513 . T C . . ANN=C|intron_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|3/3|c.244-22A>G|||||| 22 41856527 . A G . . ANN=G|intron_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|3/3|c.244-36T>C|||||| 22 41863423 . A G . . ANN=G|intron_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|3/3|c.243+29T>C|||||| 22 41863427 . G A . . ANN=A|intron_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|3/3|c.243+25C>T|||||| 22 41864114 . T C . . ANN=C|intron_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|2/3|c.76+14A>G|||||| 22 41864190 . A T . . ANN=T|intron_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|1/3|c.53-39T>A|||||| 22 41864658 . A T . . ANN=T|5_prime_UTR_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|1/4|c.-1T>A|||||1| 22 41864688 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|1/4|c.-31A>G|||||31| 22 41864700 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|PHF5A|PHF5A|transcript|NM_032758.3|Coding|1/4|c.-43C>G|||||43| 22 41865217 . G C . . ANN=C|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|1/17|c.36+31G>C|||||| 22 41895686 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|1/17|c.37-44C>T|||||| 22 41895777 . A G . . ANN=G|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|2/18|c.84A>G|p.Gln28Gln|106/2741|84/2343|28/780|| 22 41895813 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|2/18|c.120C>T|p.Asn40Asn|142/2741|120/2343|40/780|| 22 41895908 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|2/17|c.173+42C>T|||||| 22 41903813 . A C . . ANN=C|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|3/18|c.192A>C|p.Thr64Thr|214/2741|192/2343|64/780|| 22 41903841 . C G . . ANN=G|missense_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|3/18|c.220C>G|p.Leu74Val|242/2741|220/2343|74/780|| 22 41903852 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|3/18|c.231C>T|p.Pro77Pro|253/2741|231/2343|77/780|| 22 41903960 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|3/18|c.339C>T|p.Ser113Ser|361/2741|339/2343|113/780|| 22 41904072 . T C . . ANN=C|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|3/17|c.432+19T>C|||||| 22 41907930 . T C . . ANN=C|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|4/18|c.483T>C|p.Tyr161Tyr|505/2741|483/2343|161/780|| 22 41907933 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|4/18|c.486C>T|p.Gly162Gly|508/2741|486/2343|162/780|| 22 41911426 . A C . . ANN=C|missense_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|5/18|c.571A>C|p.Thr191Pro|593/2741|571/2343|191/780|| 22 41911525 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|5/18|c.670C>T|p.Leu224Leu|692/2741|670/2343|224/780|| 22 41911570 . G C . . ANN=C|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|5/17|c.684+31G>C|||||| 22 41911805 . G C . . ANN=C|missense_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|6/18|c.719G>C|p.Gly240Ala|741/2741|719/2343|240/780|| 22 41911941 . G A . . ANN=A|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|6/17|c.835+20G>A|||||| 22 41913649 . G C . . ANN=C|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|7/17|c.940+14G>C|||||| 22 41914453 . C A . . ANN=A|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|7/17|c.941-32C>A|||||| 22 41914593 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|8/17|c.1032+17C>T|||||| 22 41916140 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|8/17|c.1033-35C>T|||||| 22 41919009 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|10/17|c.1296+18C>T|||||| 22 41919029 . C G . . ANN=G|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|10/17|c.1296+38C>G|||||| 22 41919182 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|10/17|c.1297-27C>T|||||| 22 41919330 . A G . . ANN=G|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|11/17|c.1370+48A>G|||||| 22 41919787 . G T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|11/17|c.1371-47G>T|||||| 22 41919850 . G T . . ANN=T|missense_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|12/18|c.1387G>T|p.Gly463Trp|1409/2741|1387/2343|463/780|| 22 41919893 . C T . . ANN=T|missense_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|12/18|c.1430C>T|p.Thr477Met|1452/2741|1430/2343|477/780|| 22 41919894 . G A . . ANN=A|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|12/18|c.1431G>A|p.Thr477Thr|1453/2741|1431/2343|477/780|| 22 41919961 . T C . . ANN=C|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|12/17|c.1482+16T>C|||||| 22 41919978 . T C . . ANN=C|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|12/17|c.1482+33T>C|||||| 22 41920984 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|13/17|c.1605+12C>T|||||| 22 41920995 . T C . . ANN=C|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|13/17|c.1605+23T>C|||||| 22 41921151 . G A . . ANN=A|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|13/17|c.1606-46G>A|||||| 22 41921177 . A G . . ANN=G|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|13/17|c.1606-20A>G|||||| 22 41921234 . C G . . ANN=G|missense_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|14/18|c.1643C>G|p.Pro548Arg|1665/2741|1643/2343|548/780|| 22 41921247 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|14/18|c.1656C>T|p.Ser552Ser|1678/2741|1656/2343|552/780|| 22 41921369 . C T . . ANN=T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|14/17|c.1761+17C>T|||||| 22 41922216 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*3071G>A|||||3071|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*3071G>A|||||3071|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*3071G>A|||||3071|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*3071G>A|||||3071|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*3071G>A|||||3071|,T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|14/17|c.1762-50C>T|||||| 22 41922376 . T A . . ANN=A|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|15/18|c.1872T>A|p.Ile624Ile|1894/2741|1872/2343|624/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*2911A>T|||||2911|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*2911A>T|||||2911|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*2911A>T|||||2911|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*2911A>T|||||2911|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*2911A>T|||||2911| 22 41922488 . TG T . . ANN=T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*2798delC|||||2798|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*2798delC|||||2798|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*2798delC|||||2798|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*2798delC|||||2798|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*2798delC|||||2798|,|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|15/17|c.1953+33delG||||||INFO_REALIGN_3_PRIME 22 41923260 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*2027C>G|||||2027|,C|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*2027C>G|||||2027|,C|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*2027C>G|||||2027|,C|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*2027C>G|||||2027|,C|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*2027C>G|||||2027|,C|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|15/17|c.1954-32G>C|||||| 22 41923279 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*2008C>T|||||2008|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*2008C>T|||||2008|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*2008C>T|||||2008|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*2008C>T|||||2008|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*2008C>T|||||2008|,A|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|15/17|c.1954-13G>A|||||| 22 41923280 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*2007G>A|||||2007|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*2007G>A|||||2007|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*2007G>A|||||2007|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*2007G>A|||||2007|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*2007G>A|||||2007|,T|intron_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|15/17|c.1954-12C>T|||||| 22 41923318 . C T . . ANN=T|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|16/18|c.1980C>T|p.Ile660Ile|2002/2741|1980/2343|660/780||,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*1969G>A|||||1969|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*1969G>A|||||1969|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*1969G>A|||||1969|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*1969G>A|||||1969|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*1969G>A|||||1969| 22 41923407 . G A . . ANN=A|missense_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|16/18|c.2069G>A|p.Ser690Asn|2091/2741|2069/2343|690/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*1880C>T|||||1880|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*1880C>T|||||1880|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*1880C>T|||||1880|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*1880C>T|||||1880|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*1880C>T|||||1880| 22 41924483 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|18/18|c.2209C>T|p.Pro737Ser|2231/2741|2209/2343|737/780||,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*804G>A|||||804|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*804G>A|||||804|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*804G>A|||||804|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*804G>A|||||804|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*804G>A|||||804| 22 41924552 . G A . . ANN=A|missense_variant|MODERATE|ACO2|ACO2|transcript|NM_001098.2|Coding|18/18|c.2278G>A|p.Glu760Lys|2300/2741|2278/2343|760/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*735C>T|||||735|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*735C>T|||||735|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*735C>T|||||735|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*735C>T|||||735|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*735C>T|||||735| 22 41924557 . G A . . ANN=A|synonymous_variant|LOW|ACO2|ACO2|transcript|NM_001098.2|Coding|18/18|c.2283G>A|p.Thr761Thr|2305/2741|2283/2343|761/780||,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*730C>T|||||730|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*730C>T|||||730|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*730C>T|||||730|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*730C>T|||||730|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*730C>T|||||730| 22 41924620 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|18/18|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*667C>T|||||667|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*667C>T|||||667|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*667C>T|||||667|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*667C>T|||||667|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*667C>T|||||667| 22 41924640 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ACO2|ACO2|transcript|NM_001098.2|Coding|18/18|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*647G>A|||||647|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*647G>A|||||647|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*647G>A|||||647|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*647G>A|||||647|,T|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*647G>A|||||647| 22 41925266 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|6/6|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|5/5|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|7/7|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|7/7|c.*21C>T|||||21|,A|3_prime_UTR_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|7/7|c.*21C>T|||||21| 22 41925342 . T C . . ANN=C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|5/5|c.562-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|4/4|c.475-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|6/6|c.562-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|POLR3H|transcript|NM_138338.4|Coding|6/6|c.562-2A>G||||||,C|splice_acceptor_variant&intron_variant|HIGH|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|6/6|c.562-2A>G||||||;LOF=(POLR3H|POLR3H|5|1.00) 22 41926645 . G A . . ANN=A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|5/5|c.561+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|4/4|c.474+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|6/6|c.561+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|6/6|c.561+46C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|6/6|c.561+46C>T|||||| 22 41926698 . G A . . ANN=A|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|5/6|c.554C>T|p.Thr185Met|942/4484|554/615|185/204||,A|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|4/5|c.467C>T|p.Thr156Met|855/4397|467/528|156/175||,A|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|6/7|c.554C>T|p.Thr185Met|629/4171|554/615|185/204||,A|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_138338.4|Coding|6/7|c.554C>T|p.Thr185Met|636/4178|554/615|185/204||,A|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|6/7|c.554C>T|p.Thr185Met|670/4212|554/615|185/204|| 22 41926730 . A C . . ANN=C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|5/6|c.522T>G|p.Ser174Arg|910/4484|522/615|174/204||,C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|4/5|c.435T>G|p.Ser145Arg|823/4397|435/528|145/175||,C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|6/7|c.522T>G|p.Ser174Arg|597/4171|522/615|174/204||,C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_138338.4|Coding|6/7|c.522T>G|p.Ser174Arg|604/4178|522/615|174/204||,C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|6/7|c.522T>G|p.Ser174Arg|638/4212|522/615|174/204|| 22 41926756 . T C . . ANN=C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|5/6|c.496A>G|p.Ser166Gly|884/4484|496/615|166/204||,C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|4/5|c.409A>G|p.Ser137Gly|797/4397|409/528|137/175||,C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|6/7|c.496A>G|p.Ser166Gly|571/4171|496/615|166/204||,C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_138338.4|Coding|6/7|c.496A>G|p.Ser166Gly|578/4178|496/615|166/204||,C|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|6/7|c.496A>G|p.Ser166Gly|612/4212|496/615|166/204|| 22 41926757 . G A . . ANN=A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|5/6|c.495C>T|p.Pro165Pro|883/4484|495/615|165/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|4/5|c.408C>T|p.Pro136Pro|796/4397|408/528|136/175||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|6/7|c.495C>T|p.Pro165Pro|570/4171|495/615|165/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_138338.4|Coding|6/7|c.495C>T|p.Pro165Pro|577/4178|495/615|165/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|6/7|c.495C>T|p.Pro165Pro|611/4212|495/615|165/204|| 22 41926859 . G A . . ANN=A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|5/6|c.393C>T|p.Tyr131Tyr|781/4484|393/615|131/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|4/5|c.306C>T|p.Tyr102Tyr|694/4397|306/528|102/175||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|6/7|c.393C>T|p.Tyr131Tyr|468/4171|393/615|131/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_138338.4|Coding|6/7|c.393C>T|p.Tyr131Tyr|475/4178|393/615|131/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|6/7|c.393C>T|p.Tyr131Tyr|509/4212|393/615|131/204|| 22 41926892 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|5/6|c.360C>T|p.Phe120Phe|748/4484|360/615|120/204||,A|splice_region_variant&synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|4/5|c.273C>T|p.Phe91Phe|661/4397|273/528|91/175||,A|splice_region_variant&synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|6/7|c.360C>T|p.Phe120Phe|435/4171|360/615|120/204||,A|splice_region_variant&synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_138338.4|Coding|6/7|c.360C>T|p.Phe120Phe|442/4178|360/615|120/204||,A|splice_region_variant&synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|6/7|c.360C>T|p.Phe120Phe|476/4212|360/615|120/204|| 22 41926924 . G C . . ANN=C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|4/5|c.360-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|3/4|c.273-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|5/6|c.360-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|5/6|c.360-32C>G||||||,C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|5/6|c.360-32C>G|||||| 22 41928058 . G C . . ANN=C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|4/5|c.359+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|3/4|c.272+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|5/6|c.359+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|5/6|c.359+40C>G||||||,C|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|5/6|c.359+40C>G|||||| 22 41928086 . C T . . ANN=T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|4/5|c.359+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|3/4|c.272+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|5/6|c.359+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|5/6|c.359+12G>A||||||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|5/6|c.359+12G>A|||||| 22 41928145 . G A . . ANN=A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|4/6|c.312C>T|p.Phe104Phe|700/4484|312/615|104/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|3/5|c.225C>T|p.Phe75Phe|613/4397|225/528|75/175||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|5/7|c.312C>T|p.Phe104Phe|387/4171|312/615|104/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_138338.4|Coding|5/7|c.312C>T|p.Phe104Phe|394/4178|312/615|104/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|5/7|c.312C>T|p.Phe104Phe|428/4212|312/615|104/204|| 22 41928211 . G A . . ANN=A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|3/5|c.296-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|2/4|c.209-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|4/6|c.296-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|4/6|c.296-50C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|4/6|c.296-50C>T|||||| 22 41928740 . C T . . ANN=T|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|3/6|c.218G>A|p.Arg73His|606/4484|218/615|73/204||,T|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|4/7|c.218G>A|p.Arg73His|293/4171|218/615|73/204||,T|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_138338.4|Coding|4/7|c.218G>A|p.Arg73His|300/4178|218/615|73/204||,T|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|4/7|c.218G>A|p.Arg73His|334/4212|218/615|73/204||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|2/4|c.209-579G>A|||||| 22 41928785 . G A . . ANN=A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|2/5|c.209-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|2/4|c.209-624C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|3/6|c.209-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|3/6|c.209-36C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|3/6|c.209-36C>T|||||| 22 41928797 . C T . . ANN=T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|2/5|c.209-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|2/4|c.209-636G>A||||||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|3/6|c.209-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|3/6|c.209-48G>A||||||,T|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|3/6|c.209-48G>A|||||| 22 41928798 . G A . . ANN=A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|2/5|c.209-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|2/4|c.209-637C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|3/6|c.209-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_138338.4|Coding|3/6|c.209-49C>T||||||,A|intron_variant|MODIFIER|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|3/6|c.209-49C>T|||||| 22 41936710 . G A . . ANN=A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|2/6|c.201C>T|p.His67His|589/4484|201/615|67/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|2/5|c.201C>T|p.His67His|589/4397|201/528|67/175||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|3/7|c.201C>T|p.His67His|276/4171|201/615|67/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_138338.4|Coding|3/7|c.201C>T|p.His67His|283/4178|201/615|67/204||,A|synonymous_variant|LOW|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|3/7|c.201C>T|p.His67His|317/4212|201/615|67/204|| 22 41936720 . C G . . ANN=G|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|2/6|c.191G>C|p.Gly64Ala|579/4484|191/615|64/204||,G|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|2/5|c.191G>C|p.Gly64Ala|579/4397|191/528|64/175||,G|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|3/7|c.191G>C|p.Gly64Ala|266/4171|191/615|64/204||,G|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_138338.4|Coding|3/7|c.191G>C|p.Gly64Ala|273/4178|191/615|64/204||,G|missense_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|3/7|c.191G>C|p.Gly64Ala|307/4212|191/615|64/204|| 22 41936799 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018050.3|Coding|2/6|c.112G>T|p.Val38Phe|500/4484|112/615|38/204||,A|missense_variant&splice_region_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001018052.3|Coding|2/5|c.112G>T|p.Val38Phe|500/4397|112/528|38/175||,A|missense_variant&splice_region_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282885.1|Coding|3/7|c.112G>T|p.Val38Phe|187/4171|112/615|38/204||,A|missense_variant&splice_region_variant|MODERATE|POLR3H|POLR3H|transcript|NM_138338.4|Coding|3/7|c.112G>T|p.Val38Phe|194/4178|112/615|38/204||,A|missense_variant&splice_region_variant|MODERATE|POLR3H|POLR3H|transcript|NM_001282884.1|Coding|3/7|c.112G>T|p.Val38Phe|228/4212|112/615|38/204|| 22 41968168 . G A . . ANN=A|intron_variant|MODIFIER|CSDC2|CSDC2|transcript|NM_014460.3|Coding|2/3|c.176+23G>A|||||| 22 41969683 . C G . . ANN=G|synonymous_variant|LOW|CSDC2|CSDC2|transcript|NM_014460.3|Coding|3/4|c.201C>G|p.Pro67Pro|498/2530|201/462|67/153|| 22 41969745 . A C . . ANN=C|missense_variant|MODERATE|CSDC2|CSDC2|transcript|NM_014460.3|Coding|3/4|c.263A>C|p.Glu88Ala|560/2530|263/462|88/153|| 22 41969823 . T G . . ANN=G|intron_variant|MODIFIER|CSDC2|CSDC2|transcript|NM_014460.3|Coding|3/3|c.299+42T>G|||||| 22 41969831 . A G . . ANN=G|intron_variant|MODIFIER|CSDC2|CSDC2|transcript|NM_014460.3|Coding|3/3|c.299+50A>G|||||| 22 41970731 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CSDC2|CSDC2|transcript|NM_014460.3|Coding|3/3|c.300-6C>T|||||| 22 41970752 . C T . . ANN=T|synonymous_variant|LOW|CSDC2|CSDC2|transcript|NM_014460.3|Coding|4/4|c.315C>T|p.Tyr105Tyr|612/2530|315/462|105/153|| 22 41970770 . C T . . ANN=T|synonymous_variant|LOW|CSDC2|CSDC2|transcript|NM_014460.3|Coding|4/4|c.333C>T|p.Asp111Asp|630/2530|333/462|111/153|| 22 41970872 . G A . . ANN=A|synonymous_variant|LOW|CSDC2|CSDC2|transcript|NM_014460.3|Coding|4/4|c.435G>A|p.Thr145Thr|732/2530|435/462|145/153|| 22 41970909 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CSDC2|CSDC2|transcript|NM_014460.3|Coding|4/4|c.*10T>C|||||10| 22 41970939 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CSDC2|CSDC2|transcript|NM_014460.3|Coding|4/4|c.*40G>A|||||40| 22 41973290 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PMM1|PMM1|transcript|NM_002676.2|Coding|8/8|c.*32G>A|||||32| 22 41973374 . G A . . ANN=A|missense_variant|MODERATE|PMM1|PMM1|transcript|NM_002676.2|Coding|8/8|c.737C>T|p.Thr246Met|799/1283|737/789|246/262|| 22 41973390 . C T . . ANN=T|missense_variant|MODERATE|PMM1|PMM1|transcript|NM_002676.2|Coding|8/8|c.721G>A|p.Val241Met|783/1283|721/789|241/262|| 22 41973452 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PMM1|PMM1|transcript|NM_002676.2|Coding|7/7|c.667-8G>A|||||| 22 41973780 . G A . . ANN=A|intron_variant|MODIFIER|PMM1|PMM1|transcript|NM_002676.2|Coding|7/7|c.666+32C>T|||||| 22 41973824 . G A . . ANN=A|synonymous_variant|LOW|PMM1|PMM1|transcript|NM_002676.2|Coding|7/8|c.654C>T|p.Asn218Asn|716/1283|654/789|218/262|| 22 41974805 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PMM1|PMM1|transcript|NM_002676.2|Coding|6/7|c.550+5G>A|||||| 22 41974904 . G A . . ANN=A|intron_variant|MODIFIER|PMM1|PMM1|transcript|NM_002676.2|Coding|5/7|c.475-19C>T|||||| 22 41979929 . C T . . ANN=T|intron_variant|MODIFIER|PMM1|PMM1|transcript|NM_002676.2|Coding|5/7|c.474+34G>A|||||| 22 41980043 . G A . . ANN=A|missense_variant|MODERATE|PMM1|PMM1|transcript|NM_002676.2|Coding|5/8|c.394C>T|p.Arg132Trp|456/1283|394/789|132/262|| 22 41980349 . G T . . ANN=T|missense_variant|MODERATE|PMM1|PMM1|transcript|NM_002676.2|Coding|4/8|c.310C>A|p.Leu104Met|372/1283|310/789|104/262|| 22 41980403 . C T . . ANN=T|intron_variant|MODIFIER|PMM1|PMM1|transcript|NM_002676.2|Coding|3/7|c.283-27G>A|||||| 22 41980567 . C T . . ANN=T|synonymous_variant|LOW|PMM1|PMM1|transcript|NM_002676.2|Coding|3/8|c.246G>A|p.Thr82Thr|308/1283|246/789|82/262|| 22 41982107 . C T . . ANN=T|missense_variant|MODERATE|PMM1|PMM1|transcript|NM_002676.2|Coding|2/8|c.178G>A|p.Ala60Thr|240/1283|178/789|60/262|| 22 41982136 . A G . . ANN=G|missense_variant|MODERATE|PMM1|PMM1|transcript|NM_002676.2|Coding|2/8|c.149T>C|p.Val50Ala|211/1283|149/789|50/262|| 22 41982207 . G T . . ANN=T|intron_variant|MODIFIER|PMM1|PMM1|transcript|NM_002676.2|Coding|1/7|c.88-10C>A|||||| 22 41985797 . C A . . ANN=A|missense_variant|MODERATE|PMM1|PMM1|transcript|NM_002676.2|Coding|1/8|c.13G>T|p.Ala5Ser|75/1283|13/789|5/262|| 22 41985801 . G A . . ANN=A|synonymous_variant|LOW|PMM1|PMM1|transcript|NM_002676.2|Coding|1/8|c.9C>T|p.Val3Val|71/1283|9/789|3/262|| 22 41997072 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|DESI1|DESI1|transcript|NM_015704.2|Coding|6/6|c.*29C>A|||||29| 22 41997217 . GA G . . ANN=G|intron_variant|MODIFIER|DESI1|DESI1|transcript|NM_015704.2|Coding|5/5|c.414-24delT|||||| 22 41999432 . G A . . ANN=A|intron_variant|MODIFIER|DESI1|DESI1|transcript|NM_015704.2|Coding|4/5|c.291-47C>T|||||| 22 42000072 . G A . . ANN=A|missense_variant|MODERATE|DESI1|DESI1|transcript|NM_015704.2|Coding|4/6|c.266C>T|p.Ser89Phe|484/3794|266/507|89/168|| 22 42003243 . A G . . ANN=G|intron_variant|MODIFIER|DESI1|DESI1|transcript|NM_015704.2|Coding|3/5|c.180+23T>C|||||| 22 42003362 . G A . . ANN=A|intron_variant|MODIFIER|DESI1|DESI1|transcript|NM_015704.2|Coding|2/5|c.111-27C>T|||||| 22 42003373 . T C . . ANN=C|intron_variant|MODIFIER|DESI1|DESI1|transcript|NM_015704.2|Coding|2/5|c.111-38A>G|||||| 22 42003820 . A G . . ANN=G|intron_variant|MODIFIER|DESI1|DESI1|transcript|NM_015704.2|Coding|2/5|c.110+24T>C|||||| 22 42016808 . G A . . ANN=A|synonymous_variant|LOW|DESI1|DESI1|transcript|NM_015704.2|Coding|1/6|c.36C>T|p.Tyr12Tyr|254/3794|36/507|12/168|| 22 42016862 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|DESI1|DESI1|transcript|NM_015704.2|Coding|1/6|c.-19G>C|||||19| 22 42024073 . CAAAT C . . ANN=C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|2/12|c.83-48_83-45delAAAT||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|2/12|c.83-48_83-45delAAAT||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|2/11|c.45+5984_45+5987delAAAT||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|2/12|c.83-48_83-45delAAAT|||||| 22 42024106 . A AT . . ANN=AT|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|2/12|c.83-16_83-15insT||||||,AT|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|2/12|c.83-16_83-15insT||||||,AT|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|2/11|c.45+6016_45+6017insT||||||,AT|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|2/12|c.83-16_83-15insT|||||| 22 42032101 . G A . . ANN=A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|3/12|c.196-16G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|3/12|c.196-139G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|2/11|c.46-16G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|3/12|c.196-16G>A|||||| 22 42032103 . A AT . . ANN=AT|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|3/12|c.196-14_196-13insT||||||,AT|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|3/12|c.196-137_196-136insT||||||,AT|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|2/11|c.46-14_46-13insT||||||,AT|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|3/12|c.196-14_196-13insT|||||| 22 42032277 . G C . . ANN=C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|4/12|c.334+22G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|4/12|c.211+22G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|3/11|c.184+22G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|4/12|c.334+22G>C|||||| 22 42032481 . C T . . ANN=T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|4/12|c.335-39C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|4/12|c.212-39C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|3/11|c.185-39C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|4/12|c.335-39C>T|||||| 22 42032610 . C T . . ANN=T|missense_variant|MODERATE|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|5/13|c.425C>T|p.Ser142Leu|509/2147|425/1830|142/609||,T|missense_variant|MODERATE|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|5/13|c.302C>T|p.Ser101Leu|500/2138|302/1707|101/568||,T|missense_variant|MODERATE|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|4/12|c.275C>T|p.Ser92Leu|510/2148|275/1680|92/559||,T|missense_variant|MODERATE|XRCC6|XRCC6|transcript|NM_001469.4|Coding|5/13|c.425C>T|p.Ser142Leu|623/2261|425/1830|142/609|| 22 42032806 . C T . . ANN=T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|5/12|c.589+32C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|5/12|c.466+32C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|4/11|c.439+32C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|5/12|c.589+32C>T|||||| 22 42032815 . A G . . ANN=G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|5/12|c.589+41A>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|5/12|c.466+41A>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|4/11|c.439+41A>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|5/12|c.589+41A>G|||||| 22 42033686 . A G . . ANN=G|missense_variant|MODERATE|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|6/13|c.664A>G|p.Ser222Gly|748/2147|664/1830|222/609||,G|missense_variant|MODERATE|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|6/13|c.541A>G|p.Ser181Gly|739/2138|541/1707|181/568||,G|missense_variant|MODERATE|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|5/12|c.514A>G|p.Ser172Gly|749/2148|514/1680|172/559||,G|missense_variant|MODERATE|XRCC6|XRCC6|transcript|NM_001469.4|Coding|6/13|c.664A>G|p.Ser222Gly|862/2261|664/1830|222/609|| 22 42033821 . C A . . ANN=A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|6/12|c.773+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|6/12|c.650+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|5/11|c.623+26C>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|6/12|c.773+26C>A|||||| 22 42042889 . T G . . ANN=G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|6/12|c.774-11T>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|6/12|c.651-11T>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|5/11|c.624-11T>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|6/12|c.774-11T>G|||||| 22 42043096 . G A . . ANN=A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|7/12|c.960+10G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|7/12|c.837+10G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|6/11|c.810+10G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|7/12|c.960+10G>A|||||| 22 42046861 . C T . . ANN=T|synonymous_variant|LOW|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|8/13|c.1095C>T|p.Ser365Ser|1179/2147|1095/1830|365/609||,T|synonymous_variant|LOW|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|8/13|c.972C>T|p.Ser324Ser|1170/2138|972/1707|324/568||,T|synonymous_variant|LOW|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|7/12|c.945C>T|p.Ser315Ser|1180/2148|945/1680|315/559||,T|synonymous_variant|LOW|XRCC6|XRCC6|transcript|NM_001469.4|Coding|8/13|c.1095C>T|p.Ser365Ser|1293/2261|1095/1830|365/609|| 22 42046910 . C G . . ANN=G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|8/12|c.1129+15C>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|8/12|c.1006+15C>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|7/11|c.979+15C>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|8/12|c.1129+15C>G|||||| 22 42046936 . G C . . ANN=C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|8/12|c.1129+41G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|8/12|c.1006+41G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|7/11|c.979+41G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|8/12|c.1129+41G>C|||||| 22 42049736 . A G . . ANN=G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|9/12|c.1291+42A>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|9/12|c.1168+42A>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|8/11|c.1141+42A>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|9/12|c.1291+42A>G|||||| 22 42052872 . A C . . ANN=C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|9/12|c.1292-35A>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|9/12|c.1169-35A>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|8/11|c.1142-35A>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|9/12|c.1292-35A>C|||||| 22 42054239 . CATT C . . ANN=C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|10/12|c.1422-16_1422-14delATT||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|10/12|c.1299-16_1299-14delATT||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|9/11|c.1272-16_1272-14delATT||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|10/12|c.1422-16_1422-14delATT|||||| 22 42054365 . G A . . ANN=A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|11/12|c.1522+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|11/12|c.1399+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|10/11|c.1372+9G>A||||||,A|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|11/12|c.1522+9G>A|||||| 22 42054366 . T C . . ANN=C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|11/12|c.1522+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|11/12|c.1399+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|10/11|c.1372+10T>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|11/12|c.1522+10T>C|||||| 22 42054373 . G C . . ANN=C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|11/12|c.1522+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|11/12|c.1399+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|10/11|c.1372+17G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|11/12|c.1522+17G>C|||||| 22 42057294 . C T . . ANN=T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|11/12|c.1523-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|11/12|c.1400-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|10/11|c.1373-41C>T||||||,T|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|11/12|c.1523-41C>T|||||| 22 42057295 . G C . . ANN=C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|11/12|c.1523-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|11/12|c.1400-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|10/11|c.1373-40G>C||||||,C|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|11/12|c.1523-40G>C|||||| 22 42057308 . C G . . ANN=G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|11/12|c.1523-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|11/12|c.1400-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|10/11|c.1373-27C>G||||||,G|intron_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|11/12|c.1523-27C>G|||||| 22 42059768 . G T . . ANN=T|synonymous_variant|LOW|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|13/13|c.1779G>T|p.Gly593Gly|1863/2147|1779/1830|593/609||,T|synonymous_variant|LOW|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|13/13|c.1656G>T|p.Gly552Gly|1854/2138|1656/1707|552/568||,T|synonymous_variant|LOW|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|12/12|c.1629G>T|p.Gly543Gly|1864/2148|1629/1680|543/559||,T|synonymous_variant|LOW|XRCC6|XRCC6|transcript|NM_001469.4|Coding|13/13|c.1779G>T|p.Gly593Gly|1977/2261|1779/1830|593/609|| 22 42059828 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|13/13|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|13/13|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|12/12|c.*9C>T|||||9|,T|3_prime_UTR_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|13/13|c.*9C>T|||||9| 22 42059854 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288976.1|Coding|13/13|c.*35G>T|||||35|,T|3_prime_UTR_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288977.1|Coding|13/13|c.*35G>T|||||35|,T|3_prime_UTR_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001288978.1|Coding|12/12|c.*35G>T|||||35|,T|3_prime_UTR_variant|MODIFIER|XRCC6|XRCC6|transcript|NM_001469.4|Coding|13/13|c.*35G>T|||||35| 22 42076318 . G A . . ANN=A|synonymous_variant|LOW|NHP2L1|NHP2L1|transcript|NM_001003796.1|Coding|2/3|c.54C>T|p.Leu18Leu|167/1500|54/387|18/128||,A|synonymous_variant|LOW|NHP2L1|NHP2L1|transcript|NM_005008.3|Coding|3/4|c.54C>T|p.Leu18Leu|399/1732|54/387|18/128|| 22 42076330 . G A . . ANN=A|synonymous_variant|LOW|NHP2L1|NHP2L1|transcript|NM_001003796.1|Coding|2/3|c.42C>T|p.Ala14Ala|155/1500|42/387|14/128||,A|synonymous_variant|LOW|NHP2L1|NHP2L1|transcript|NM_005008.3|Coding|3/4|c.42C>T|p.Ala14Ala|387/1732|42/387|14/128|| 22 42076372 . T TG . . ANN=TG|splice_region_variant&intron_variant|LOW|NHP2L1|NHP2L1|transcript|NM_001003796.1|Coding|1/2|c.4-5_4-4insC||||||,TG|splice_region_variant&intron_variant|LOW|NHP2L1|NHP2L1|transcript|NM_005008.3|Coding|2/3|c.4-5_4-4insC|||||| 22 42076381 . C A . . ANN=A|intron_variant|MODIFIER|NHP2L1|NHP2L1|transcript|NM_001003796.1|Coding|1/2|c.4-13G>T||||||,A|intron_variant|MODIFIER|NHP2L1|NHP2L1|transcript|NM_005008.3|Coding|2/3|c.4-13G>T|||||| 22 42078409 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|NHP2L1|NHP2L1|transcript|NM_005008.3|Coding|2/4|c.-47C>T|||||47|,A|intron_variant|MODIFIER|NHP2L1|NHP2L1|transcript|NM_001003796.1|Coding|1/2|c.4-2041C>T|||||| 22 42084790 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NHP2L1|NHP2L1|transcript|NM_001003796.1|Coding|1/2|c.3+8C>T||||||,A|splice_region_variant&intron_variant|LOW|NHP2L1|NHP2L1|transcript|NM_005008.3|Coding|1/3|c.-230+8C>T|||||| 22 42095517 . C T . . ANN=T|intergenic_region|MODIFIER|C22orf46-MEI1|C22orf46-MEI1|intergenic_region|C22orf46-MEI1||||||||| 22 42095539 . G GGA . . ANN=GA|frameshift_variant&start_lost|HIGH|MEI1|MEI1|transcript|NM_152513.3|Coding|1/31|c.-1_1dupGA|p.Met1fs|27/4006|2/3825|1/1274||INFO_REALIGN_3_PRIME;LOF=(MEI1|MEI1|1|1.00) 22 42095573 . A G . . ANN=G|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|1/31|c.31A>G|p.Thr11Ala|56/4006|31/3825|11/1274|| 22 42095603 . G A . . ANN=A|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|1/31|c.61G>A|p.Ala21Thr|86/4006|61/3825|21/1274|| 22 42095644 . C T . . ANN=T|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|1/31|c.102C>T|p.Arg34Arg|127/4006|102/3825|34/1274|| 22 42095658 . T G . . ANN=G|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|1/31|c.116T>G|p.Val39Gly|141/4006|116/3825|39/1274|| 22 42095711 . G C . . ANN=C|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|1/31|c.169G>C|p.Val57Leu|194/4006|169/3825|57/1274|| 22 42095725 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|1/30|c.174+9G>A|||||| 22 42099300 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|1/30|c.175-35G>A|||||| 22 42099371 . G C . . ANN=C|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|2/31|c.211G>C|p.Asp71His|236/4006|211/3825|71/1274|| 22 42099494 . A C . . ANN=C|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|2/30|c.298+36A>C|||||| 22 42101465 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|2/30|c.299-43C>T|||||| 22 42101594 . A G . . ANN=G|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|3/30|c.349+36A>G|||||| 22 42110049 . C T . . ANN=T|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|4/31|c.393C>T|p.Ile131Ile|418/4006|393/3825|131/1274|| 22 42112035 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|4/30|c.424-10C>T|||||| 22 42114027 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|5/30|c.530-48G>A|||||| 22 42114112 . C G . . ANN=G|stop_gained|HIGH|MEI1|MEI1|transcript|NM_152513.3|Coding|6/31|c.567C>G|p.Tyr189*|592/4006|567/3825|189/1274||;LOF=(MEI1|MEI1|1|1.00);NMD=(MEI1|MEI1|1|1.00) 22 42114122 . G T . . ANN=T|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|6/31|c.577G>T|p.Gly193Cys|602/4006|577/3825|193/1274|| 22 42114160 . A G . . ANN=G|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|6/31|c.615A>G|p.Leu205Leu|640/4006|615/3825|205/1274|| 22 42114306 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|6/30|c.733+28G>A|||||| 22 42120121 . G T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|7/30|c.864+44G>T|||||| 22 42125754 . C T . . ANN=T|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|8/31|c.950C>T|p.Ala317Val|975/4006|950/3825|317/1274|| 22 42126652 . A G . . ANN=G|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|9/30|c.1096+11A>G|||||| 22 42126683 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|9/30|c.1096+42C>T|||||| 22 42128343 . G C . . ANN=C|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|10/31|c.1191G>C|p.Leu397Leu|1216/4006|1191/3825|397/1274|| 22 42128450 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|10/30|c.1197-23G>A|||||| 22 42128461 . T A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|10/30|c.1197-12T>A|||||| 22 42128468 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|10/30|c.1197-5C>T|||||| 22 42139043 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|11/30|c.1332-41G>A|||||| 22 42139054 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|11/30|c.1332-30G>A|||||| 22 42139078 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|11/30|c.1332-6A>G|||||| 22 42139175 . A C . . ANN=C|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|12/31|c.1423A>C|p.Thr475Pro|1448/4006|1423/3825|475/1274|| 22 42139215 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|12/30|c.1446+17C>T|||||| 22 42141069 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|MEI1|MEI1|transcript|NM_152513.3|Coding|13/30|c.1538+1G>A||||||;LOF=(MEI1|MEI1|1|1.00) 22 42141111 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|13/30|c.1538+43G>A|||||| 22 42141117 . G A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|13/30|c.1538+49G>A|||||| 22 42141871 . C CA . . ANN=CA|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|13/30|c.1539-18_1539-17insA|||||| 22 42141949 . C T . . ANN=T|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|14/31|c.1599C>T|p.Ser533Ser|1624/4006|1599/3825|533/1274|| 22 42148633 . G A . . ANN=A|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|16/31|c.1831G>A|p.Ala611Thr|1856/4006|1831/3825|611/1274|| 22 42148678 . T C . . ANN=C|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|16/30|c.1853+23T>C|||||| 22 42148689 . A G . . ANN=G|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|16/30|c.1853+34A>G|||||| 22 42149910 . T C . . ANN=C|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|16/30|c.1854-43T>C|||||| 22 42149991 . A G . . ANN=G|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|17/31|c.1892A>G|p.Tyr631Cys|1917/4006|1892/3825|631/1274|| 22 42154380 . G A . . ANN=A|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|18/31|c.1963G>A|p.Val655Met|1988/4006|1963/3825|655/1274|| 22 42154386 . G C . . ANN=C|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|18/31|c.1969G>C|p.Glu657Gln|1994/4006|1969/3825|657/1274|| 22 42154430 . T C . . ANN=C|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|18/31|c.2013T>C|p.Pro671Pro|2038/4006|2013/3825|671/1274|| 22 42154546 . A G . . ANN=G|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|18/30|c.2120+9A>G|||||| 22 42154579 . C A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|18/30|c.2120+42C>A|||||| 22 42159229 . G T . . ANN=T|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|19/31|c.2172G>T|p.Ser724Ser|2197/4006|2172/3825|724/1274|| 22 42159255 . C T . . ANN=T|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|19/31|c.2198C>T|p.Pro733Leu|2223/4006|2198/3825|733/1274|| 22 42159270 . A G . . ANN=G|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|19/31|c.2213A>G|p.Lys738Arg|2238/4006|2213/3825|738/1274|| 22 42159297 . G C . . ANN=C|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|19/31|c.2240G>C|p.Cys747Ser|2265/4006|2240/3825|747/1274|| 22 42166724 . G A . . ANN=A|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|20/31|c.2303G>A|p.Gly768Asp|2328/4006|2303/3825|768/1274|| 22 42166729 . C T . . ANN=T|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|20/31|c.2308C>T|p.Pro770Ser|2333/4006|2308/3825|770/1274|| 22 42166956 . C T . . ANN=T|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|20/31|c.2535C>T|p.Leu845Leu|2560/4006|2535/3825|845/1274|| 22 42172056 . TC T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|20/30|c.2545-49delC|||||| 22 42172080 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|20/30|c.2545-26C>T|||||| 22 42172118 . T A . . ANN=A|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|21/31|c.2557T>A|p.Ser853Thr|2582/4006|2557/3825|853/1274|| 22 42174779 . A G . . ANN=G|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|22/31|c.2778A>G|p.Gln926Gln|2803/4006|2778/3825|926/1274|| 22 42177317 . A G . . ANN=G|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|23/31|c.2845A>G|p.Thr949Ala|2870/4006|2845/3825|949/1274|| 22 42177684 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|23/30|c.2927-5G>A|||||| 22 42177816 . C A . . ANN=A|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|24/31|c.3054C>A|p.Ser1018Ser|3079/4006|3054/3825|1018/1274|| 22 42177822 . T C . . ANN=C|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|24/31|c.3060T>C|p.Ser1020Ser|3085/4006|3060/3825|1020/1274|| 22 42177825 . C T . . ANN=T|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|24/31|c.3063C>T|p.Ala1021Ala|3088/4006|3063/3825|1021/1274|| 22 42177841 . A G . . ANN=G|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|24/31|c.3079A>G|p.Ser1027Gly|3104/4006|3079/3825|1027/1274|| 22 42177899 . A G . . ANN=G|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|24/30|c.3087+50A>G|||||| 22 42180400 . A G . . ANN=G|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|25/31|c.3145A>G|p.Lys1049Glu|3170/4006|3145/3825|1049/1274|| 22 42180441 . C A . . ANN=A|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|25/30|c.3169+17C>A|||||| 22 42180458 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|25/30|c.3169+34C>T|||||| 22 42180584 . T C . . ANN=C|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|25/30|c.3170-28T>C|||||| 22 42180679 . G A . . ANN=A|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|26/31|c.3237G>A|p.Val1079Val|3262/4006|3237/3825|1079/1274|| 22 42189810 . A AT . . ANN=AT|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|26/30|c.3346-23_3346-22insT|||||| 22 42190388 . C T . . ANN=T|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|28/31|c.3441C>T|p.Ala1147Ala|3466/4006|3441/3825|1147/1274|| 22 42191507 . G A . . ANN=A|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|29/31|c.3627G>A|p.Ser1209Ser|3652/4006|3627/3825|1209/1274|| 22 42191540 . C T . . ANN=T|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|29/31|c.3660C>T|p.Phe1220Phe|3685/4006|3660/3825|1220/1274|| 22 42191798 . G A . . ANN=A|synonymous_variant|LOW|MEI1|MEI1|transcript|NM_152513.3|Coding|30/31|c.3726G>A|p.Leu1242Leu|3751/4006|3726/3825|1242/1274|| 22 42191844 . G T . . ANN=T|missense_variant|MODERATE|MEI1|MEI1|transcript|NM_152513.3|Coding|30/31|c.3772G>T|p.Asp1258Tyr|3797/4006|3772/3825|1258/1274|| 22 42195237 . C T . . ANN=T|intron_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|30/30|c.3780-21C>T|||||| 22 42195324 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|31/31|c.*21A>G|||||21| 22 42195345 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MEI1|MEI1|transcript|NM_152513.3|Coding|31/31|c.*42C>T|||||42| 22 42204854 . C T . . ANN=T|intron_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|1/6|c.-16-25C>T|||||| 22 42204918 . C A . . ANN=A|synonymous_variant|LOW|CCDC134|CCDC134|transcript|NM_024821.2|Coding|2/7|c.24C>A|p.Ala8Ala|133/1275|24/690|8/229|| 22 42204946 . A T . . ANN=T|missense_variant|MODERATE|CCDC134|CCDC134|transcript|NM_024821.2|Coding|2/7|c.52A>T|p.Met18Leu|161/1275|52/690|18/229|| 22 42205043 . T C . . ANN=C|intron_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|2/6|c.103+46T>C|||||| 22 42205863 . C T . . ANN=T|intron_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|2/6|c.104-20C>T|||||| 22 42205957 . C T . . ANN=T|missense_variant|MODERATE|CCDC134|CCDC134|transcript|NM_024821.2|Coding|3/7|c.178C>T|p.His60Tyr|287/1275|178/690|60/229|| 22 42206019 . G A . . ANN=A|intron_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|3/6|c.225+15G>A|||||| 22 42206050 . C T . . ANN=T|intron_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|3/6|c.225+46C>T|||||| 22 42206280 . G A . . ANN=A|missense_variant|MODERATE|CCDC134|CCDC134|transcript|NM_024821.2|Coding|4/7|c.295G>A|p.Glu99Lys|404/1275|295/690|99/229|| 22 42206303 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CCDC134|CCDC134|transcript|NM_024821.2|Coding|4/6|c.310+8C>T|||||| 22 42209251 . C A . . ANN=A|intron_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|4/6|c.311-17C>A|||||| 22 42209258 . C T . . ANN=T|intron_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|4/6|c.311-10C>T|||||| 22 42209279 . G A . . ANN=A|missense_variant|MODERATE|CCDC134|CCDC134|transcript|NM_024821.2|Coding|5/7|c.322G>A|p.Val108Met|431/1275|322/690|108/229|| 22 42209326 . G A . . ANN=A|synonymous_variant|LOW|CCDC134|CCDC134|transcript|NM_024821.2|Coding|5/7|c.369G>A|p.Pro123Pro|478/1275|369/690|123/229|| 22 42209356 . C T . . ANN=T|synonymous_variant|LOW|CCDC134|CCDC134|transcript|NM_024821.2|Coding|5/7|c.399C>T|p.Asn133Asn|508/1275|399/690|133/229|| 22 42209418 . A G . . ANN=G|missense_variant|MODERATE|CCDC134|CCDC134|transcript|NM_024821.2|Coding|5/7|c.461A>G|p.Asn154Ser|570/1275|461/690|154/229|| 22 42221714 . A G . . ANN=G|missense_variant|MODERATE|CCDC134|CCDC134|transcript|NM_024821.2|Coding|7/7|c.577A>G|p.Thr193Ala|686/1275|577/690|193/229|| 22 42221786 . C T . . ANN=T|stop_gained|HIGH|CCDC134|CCDC134|transcript|NM_024821.2|Coding|7/7|c.649C>T|p.Arg217*|758/1275|649/690|217/229|| 22 42221808 . G A . . ANN=A|missense_variant|MODERATE|CCDC134|CCDC134|transcript|NM_024821.2|Coding|7/7|c.671G>A|p.Arg224Lys|780/1275|671/690|224/229|| 22 42221811 . C T . . ANN=T|missense_variant|MODERATE|CCDC134|CCDC134|transcript|NM_024821.2|Coding|7/7|c.674C>T|p.Ser225Phe|783/1275|674/690|225/229|| 22 42221836 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|7/7|c.*9C>A|||||9| 22 42221846 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CCDC134|CCDC134|transcript|NM_024821.2|Coding|7/7|c.*19C>T|||||19| 22 42229249 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|1/19|c.-26G>T|||||26|,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|1/22|n.167G>T|||||| 22 42262921 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|2/19|c.175G>A|p.Gly59Ser|367/5266|175/3426|59/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|2/22|n.367G>A|||||| 22 42262930 . AGCAGCAGCG A . . ANN=|disruptive_inframe_deletion|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|2/19|c.192_200delCGGCAGCAG|p.Gly65_Ser67del|384/5266|192/3426|64/1141||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|2/22|n.384_392delCGGCAGCAG||||||INFO_REALIGN_3_PRIME 22 42263050 . C G . . ANN=G|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|2/19|c.304C>G|p.Pro102Ala|496/5266|304/3426|102/1141||,G|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|2/22|n.496C>G|||||| 22 42263112 . C A . . ANN=A|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|2/19|c.366C>A|p.Pro122Pro|558/5266|366/3426|122/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|2/22|n.558C>A|||||| 22 42264726 . A C . . ANN=C|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|3/19|c.650A>C|p.Asn217Thr|842/5266|650/3426|217/1141||,C|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|3/22|n.842A>C|||||| 22 42264732 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|3/19|c.656C>T|p.Thr219Met|848/5266|656/3426|219/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|3/22|n.848C>T|||||| 22 42264751 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|3/19|c.675G>A|p.Pro225Pro|867/5266|675/3426|225/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|3/22|n.867G>A|||||| 22 42264775 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|3/19|c.699G>A|p.Ala233Ala|891/5266|699/3426|233/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|3/22|n.891G>A|||||| 22 42264796 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|3/19|c.720G>A|p.Pro240Pro|912/5266|720/3426|240/1141||,A|splice_region_variant&non_coding_exon_variant|LOW|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|3/22|n.912G>A|||||| 22 42266992 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|4/19|c.820C>T|p.Leu274Phe|1012/5266|820/3426|274/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|4/22|n.1012C>T|||||| 22 42267054 . C T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|4/18|c.867+15C>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|4/21|n.1059+15C>T|||||| 22 42269767 . G A . . ANN=A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|4/18|c.868-35G>A||||||,A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|4/21|n.1060-35G>A|||||| 22 42271293 . T C . . ANN=C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|5/18|c.1090-48T>C||||||,C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|5/21|n.1282-48T>C|||||| 22 42271363 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|6/19|c.1112G>A|p.Arg371Lys|1304/5266|1112/3426|371/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|6/22|n.1304G>A|||||| 22 42271491 . C T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|6/18|c.1204+36C>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|6/21|n.1396+36C>T|||||| 22 42271495 . G A . . ANN=A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|6/18|c.1204+40G>A||||||,A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|6/21|n.1396+40G>A|||||| 22 42271533 . G A . . ANN=A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|6/18|c.1205-14G>A||||||,A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|6/21|n.1397-14G>A|||||| 22 42271539 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|6/18|c.1205-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|6/21|n.1397-8C>T|||||| 22 42271653 . C A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|7/19|c.1311C>A|p.Asp437Glu|1503/5266|1311/3426|437/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|7/22|n.1503C>A|||||| 22 42271760 . A G . . ANN=G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|7/18|c.1386+32A>G||||||,G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|7/21|n.1578+32A>G|||||| 22 42273264 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|8/19|c.1418C>T|p.Ala473Val|1610/5266|1418/3426|473/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|8/22|n.1610C>T|||||| 22 42273269 . G C . . ANN=C|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|8/19|c.1423G>C|p.Gly475Arg|1615/5266|1423/3426|475/1141||,C|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|8/22|n.1615G>C|||||| 22 42273340 . T C . . ANN=C|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|8/19|c.1494T>C|p.Thr498Thr|1686/5266|1494/3426|498/1141||,C|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|8/22|n.1686T>C|||||| 22 42273418 . C T . . ANN=T|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|8/19|c.1572C>T|p.Phe524Phe|1764/5266|1572/3426|524/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|8/22|n.1764C>T|||||| 22 42273443 . G C . . ANN=C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|8/18|c.1579+18G>C||||||,C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|8/21|n.1771+18G>C|||||| 22 42273462 . G A . . ANN=A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|8/18|c.1579+37G>A||||||,A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|8/21|n.1771+37G>A|||||| 22 42273467 . A T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|8/18|c.1579+42A>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|8/21|n.1771+42A>T|||||| 22 42273933 . C T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|8/18|c.1580-13C>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|8/21|n.1772-13C>T|||||| 22 42273963 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|9/19|c.1597G>A|p.Asp533Asn|1789/5266|1597/3426|533/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|9/22|n.1789G>A|||||| 22 42274034 . G T . . ANN=T|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|9/19|c.1668G>T|p.Leu556Leu|1860/5266|1668/3426|556/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|9/22|n.1860G>T|||||| 22 42274076 . C T . . ANN=T|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|9/19|c.1710C>T|p.Ser570Ser|1902/5266|1710/3426|570/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|9/22|n.1902C>T|||||| 22 42274135 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|9/18|c.1761+8C>A||||||,A|splice_region_variant&intron_variant|LOW|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|9/21|n.1953+8C>A|||||| 22 42276742 . G C . . ANN=C|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|10/19|c.1784G>C|p.Gly595Ala|1976/5266|1784/3426|595/1141||,C|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|11/22|n.2076G>C|||||| 22 42276792 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|10/19|c.1834C>T|p.Arg612Cys|2026/5266|1834/3426|612/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|11/22|n.2126C>T|||||| 22 42276825 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|10/19|c.1867G>A|p.Val623Met|2059/5266|1867/3426|623/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|11/22|n.2159G>A|||||| 22 42276857 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|10/19|c.1899G>A|p.Leu633Leu|2091/5266|1899/3426|633/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|11/22|n.2191G>A|||||| 22 42276895 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|10/19|c.1937G>A|p.Arg646Gln|2129/5266|1937/3426|646/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|11/22|n.2229G>A|||||| 22 42276957 . G T . . ANN=T|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|10/19|c.1999G>T|p.Ala667Ser|2191/5266|1999/3426|667/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|11/22|n.2291G>T|||||| 22 42280875 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|11/19|c.2068G>A|p.Asp690Asn|2260/5266|2068/3426|690/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|12/22|n.2360G>A|||||| 22 42280889 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|11/19|c.2082G>A|p.Ala694Ala|2274/5266|2082/3426|694/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|12/22|n.2374G>A|||||| 22 42289096 . A G . . ANN=G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|11/18|c.2209-25A>G||||||,G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|12/21|n.2501-25A>G|||||| 22 42289164 . A G . . ANN=G|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|12/19|c.2252A>G|p.His751Arg|2444/5266|2252/3426|751/1141||,G|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|13/22|n.2544A>G|||||| 22 42289299 . C G . . ANN=G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|12/18|c.2377+10C>G||||||,G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|13/21|n.2669+10C>G|||||| 22 42289317 . T C . . ANN=C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|12/18|c.2377+28T>C||||||,C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|13/21|n.2669+28T>C|||||| 22 42290857 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|13/19|c.2411G>A|p.Cys804Tyr|2603/5266|2411/3426|804/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|14/22|n.2703G>A|||||| 22 42290962 . C T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|13/18|c.2495+21C>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|14/21|n.2787+21C>T|||||| 22 42290984 . C T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|13/18|c.2495+43C>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|14/21|n.2787+43C>T|||||| 22 42293026 . T C . . ANN=C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|13/18|c.2496-30T>C||||||,C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|14/21|n.2788-30T>C|||||| 22 42293140 . G C . . ANN=C|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|14/19|c.2580G>C|p.Arg860Ser|2772/5266|2580/3426|860/1141||,C|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|15/22|n.2872G>C|||||| 22 42293178 . G A . . ANN=A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|14/18|c.2605+13G>A||||||,A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|15/21|n.2897+13G>A|||||| 22 42293205 . G T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|14/18|c.2605+40G>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|15/21|n.2897+40G>T|||||| 22 42294613 . C T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|14/18|c.2606-40C>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|15/21|n.2898-40C>T|||||| 22 42294751 . G C . . ANN=C|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|15/19|c.2704G>C|p.Val902Leu|2896/5266|2704/3426|902/1141||,C|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|16/22|n.2996G>C|||||| 22 42294806 . A G . . ANN=G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|15/18|c.2738+21A>G||||||,G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|16/21|n.3030+21A>G|||||| 22 42296330 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|15/18|c.2739-4G>A||||||,A|splice_region_variant&intron_variant|LOW|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|18/21|n.3451-4G>A|||||| 22 42298957 . C T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|16/18|c.2908-17C>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|19/21|n.3620-17C>T|||||| 22 42299074 . C T . . ANN=T|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|17/19|c.3008C>T|p.Ala1003Val|3200/5266|3008/3426|1003/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|20/22|n.3720C>T|||||| 22 42299116 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|17/19|c.3050G>A|p.Ser1017Asn|3242/5266|3050/3426|1017/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|20/22|n.3762G>A|||||| 22 42299177 . G C . . ANN=C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|17/18|c.3093+18G>C||||||,C|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|20/21|n.3805+18G>C|||||| 22 42299183 . G A . . ANN=A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|17/18|c.3093+24G>A||||||,A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|20/21|n.3805+24G>A|||||| 22 42300878 . T C . . ANN=C|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|18/19|c.3105T>C|p.His1035His|3297/5266|3105/3426|1035/1141||,C|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|21/22|n.3817T>C|||||| 22 42300948 . C A . . ANN=A|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|18/19|c.3175C>A|p.Arg1059Arg|3367/5266|3175/3426|1059/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|21/22|n.3887C>A|||||| 22 42301014 . A G . . ANN=G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|18/18|c.3205+36A>G||||||,G|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|21/21|n.3917+36A>G|||||| 22 42301409 . G A . . ANN=A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|18/18|c.3206-35G>A||||||,A|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|21/21|n.3918-35G>A|||||| 22 42301434 . C T . . ANN=T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|18/18|c.3206-10C>T||||||,T|intron_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|21/21|n.3918-10C>T|||||| 22 42301477 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|19/19|c.3239G>A|p.Arg1080Gln|3431/5266|3239/3426|1080/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|22/22|n.3951G>A|||||| 22 42301535 . G A . . ANN=A|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|19/19|c.3297G>A|p.Pro1099Pro|3489/5266|3297/3426|1099/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|22/22|n.4009G>A|||||| 22 42301537 . G A . . ANN=A|missense_variant|MODERATE|SREBF2|SREBF2|transcript|NM_004599.3|Coding|19/19|c.3299G>A|p.Gly1100Asp|3491/5266|3299/3426|1100/1141||,A|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|22/22|n.4011G>A|||||| 22 42301554 . C T . . ANN=T|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|19/19|c.3316C>T|p.Leu1106Leu|3508/5266|3316/3426|1106/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|22/22|n.4028C>T|||||| 22 42301655 . C T . . ANN=T|synonymous_variant|LOW|SREBF2|SREBF2|transcript|NM_004599.3|Coding|19/19|c.3417C>T|p.Ala1139Ala|3609/5266|3417/3426|1139/1141||,T|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|22/22|n.4129C>T|||||| 22 42301690 . CCTCTCTCTCGATTT C . . ANN=|3_prime_UTR_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|19/19|c.*36_*49delGATTTCTCTCTCTC|||||36|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|22/22|n.4174_4187delGATTTCTCTCTCTC||||||INFO_REALIGN_3_PRIME 22 42301712 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|SREBF2|SREBF2|transcript|NM_004599.3|Coding|19/19|c.*48T>C|||||48|,C|non_coding_exon_variant|MODIFIER|SREBF2|SREBF2|transcript|NR_103834.1|Noncoding|22/22|n.4186T>C|||||| 22 42321451 . G A . . ANN=A|missense_variant|MODERATE|TNFRSF13C|TNFRSF13C|transcript|NM_052945.3|Coding|3/3|c.475C>T|p.His159Tyr|519/934|475/555|159/184|| 22 42321584 . C T . . ANN=T|intron_variant|MODIFIER|TNFRSF13C|TNFRSF13C|transcript|NM_052945.3|Coding|2/2|c.368-26G>A|||||| 22 42321591 . A G . . ANN=G|intron_variant|MODIFIER|TNFRSF13C|TNFRSF13C|transcript|NM_052945.3|Coding|2/2|c.368-33T>C|||||| 22 42322087 . C T . . ANN=T|intron_variant|MODIFIER|TNFRSF13C|TNFRSF13C|transcript|NM_052945.3|Coding|2/2|c.367+18G>A|||||| 22 42322155 . C T . . ANN=T|missense_variant|MODERATE|TNFRSF13C|TNFRSF13C|transcript|NM_052945.3|Coding|2/3|c.317G>A|p.Arg106Gln|361/934|317/555|106/184|| 22 42322190 . G A . . ANN=A|synonymous_variant|LOW|TNFRSF13C|TNFRSF13C|transcript|NM_052945.3|Coding|2/3|c.282C>T|p.Val94Val|326/934|282/555|94/184|| 22 42322243 . G A . . ANN=A|synonymous_variant|LOW|TNFRSF13C|TNFRSF13C|transcript|NM_052945.3|Coding|2/3|c.229C>T|p.Leu77Leu|273/934|229/555|77/184|| 22 42322716 . G C . . ANN=C|missense_variant|MODERATE|TNFRSF13C|TNFRSF13C|transcript|NM_052945.3|Coding|1/3|c.62C>G|p.Pro21Arg|106/934|62/555|21/184|| 22 42335147 . G A . . ANN=A|synonymous_variant|LOW|CENPM|CENPM|transcript|NM_024053.3|Coding|6/6|c.456C>T|p.Ile152Ile|524/930|456/543|152/180||,A|synonymous_variant|LOW|CENPM|CENPM|transcript|NM_001110215.1|Coding|2/2|c.90C>T|p.Ile30Ile|135/541|90/177|30/58||,A|3_prime_UTR_variant|MODIFIER|CENPM|CENPM|transcript|NM_001002876.1|Coding|5/5|c.*40C>T|||||40| 22 42336172 . G A . . ANN=A|stop_gained|HIGH|CENPM|CENPM|transcript|NM_001110215.1|Coding|1/2|c.7C>T|p.Arg3*|52/541|7/177|3/58||,A|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_024053.3|Coding|5/5|c.403-972C>T||||||,A|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_001002876.1|Coding|4/4|c.311-972C>T|||||| 22 42341201 . G T . . ANN=T|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_024053.3|Coding|4/5|c.310+28C>A||||||,T|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_001002876.1|Coding|4/4|c.310+28C>A|||||| 22 42341205 . G A . . ANN=A|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_024053.3|Coding|4/5|c.310+24C>T||||||,A|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_001002876.1|Coding|4/4|c.310+24C>T|||||| 22 42341308 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|CENPM|CENPM|transcript|NM_024053.3|Coding|4/6|c.231T>C|p.Ser77Ser|299/930|231/543|77/180||,G|splice_region_variant&synonymous_variant|LOW|CENPM|CENPM|transcript|NM_001002876.1|Coding|4/5|c.231T>C|p.Ser77Ser|299/838|231/324|77/107|| 22 42341934 . A G . . ANN=G|synonymous_variant|LOW|CENPM|CENPM|transcript|NM_024053.3|Coding|3/6|c.213T>C|p.Asn71Asn|281/930|213/543|71/180||,G|synonymous_variant|LOW|CENPM|CENPM|transcript|NM_001002876.1|Coding|3/5|c.213T>C|p.Asn71Asn|281/838|213/324|71/107|| 22 42341979 . G A . . ANN=A|synonymous_variant|LOW|CENPM|CENPM|transcript|NM_024053.3|Coding|3/6|c.168C>T|p.Ser56Ser|236/930|168/543|56/180||,A|synonymous_variant|LOW|CENPM|CENPM|transcript|NM_001002876.1|Coding|3/5|c.168C>T|p.Ser56Ser|236/838|168/324|56/107|| 22 42342462 . C T . . ANN=T|synonymous_variant|LOW|CENPM|CENPM|transcript|NM_024053.3|Coding|2/6|c.96G>A|p.Ala32Ala|164/930|96/543|32/180||,T|synonymous_variant|LOW|CENPM|CENPM|transcript|NM_001002876.1|Coding|2/5|c.96G>A|p.Ala32Ala|164/838|96/324|32/107|| 22 42342470 . G A . . ANN=A|stop_gained|HIGH|CENPM|CENPM|transcript|NM_024053.3|Coding|2/6|c.88C>T|p.Gln30*|156/930|88/543|30/180||,A|stop_gained|HIGH|CENPM|CENPM|transcript|NM_001002876.1|Coding|2/5|c.88C>T|p.Gln30*|156/838|88/324|30/107||;LOF=(CENPM|CENPM|3|0.67);NMD=(CENPM|CENPM|3|0.67) 22 42342977 . G C . . ANN=C|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_024053.3|Coding|1/5|c.57+47C>G||||||,C|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_001002876.1|Coding|1/4|c.57+47C>G|||||| 22 42342995 . G T . . ANN=T|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_024053.3|Coding|1/5|c.57+29C>A||||||,T|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_001002876.1|Coding|1/4|c.57+29C>A|||||| 22 42342996 . C T . . ANN=T|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_024053.3|Coding|1/5|c.57+28G>A||||||,T|intron_variant|MODIFIER|CENPM|CENPM|transcript|NM_001002876.1|Coding|1/4|c.57+28G>A|||||| 22 42343017 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CENPM|CENPM|transcript|NM_024053.3|Coding|1/5|c.57+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CENPM|CENPM|transcript|NM_001002876.1|Coding|1/4|c.57+7G>A|||||| 22 42343091 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CENPM|CENPM|transcript|NM_024053.3|Coding|1/6|c.-11C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|CENPM|CENPM|transcript|NM_001002876.1|Coding|1/5|c.-11C>T||||||,A|5_prime_UTR_variant|MODIFIER|CENPM|CENPM|transcript|NM_024053.3|Coding|1/6|c.-11C>T|||||11|,A|5_prime_UTR_variant|MODIFIER|CENPM|CENPM|transcript|NM_001002876.1|Coding|1/5|c.-11C>T|||||11| 22 42377667 . C A . . ANN=A|missense_variant|MODERATE|SEPT3|SEPT3|transcript|NM_145733.2|Coding|2/11|c.29C>A|p.Thr10Lys|167/2469|29/1077|10/358||,A|missense_variant|MODERATE|SEPT3|SEPT3|transcript|NM_019106.5|Coding|2/10|c.29C>A|p.Thr10Lys|167/4656|29/1053|10/350|| 22 42377851 . C T . . ANN=T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|2/10|c.202+11C>T||||||,T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|2/9|c.202+11C>T|||||| 22 42377878 . G A . . ANN=A|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|2/10|c.202+38G>A||||||,A|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|2/9|c.202+38G>A|||||| 22 42382109 . C T . . ANN=T|synonymous_variant|LOW|SEPT3|SEPT3|transcript|NM_145733.2|Coding|3/11|c.324C>T|p.Ile108Ile|462/2469|324/1077|108/358||,T|synonymous_variant|LOW|SEPT3|SEPT3|transcript|NM_019106.5|Coding|3/10|c.324C>T|p.Ile108Ile|462/4656|324/1053|108/350|| 22 42382126 . A G . . ANN=G|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|3/10|c.331+10A>G||||||,G|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|3/9|c.331+10A>G|||||| 22 42383244 . C T . . ANN=T|synonymous_variant|LOW|SEPT3|SEPT3|transcript|NM_145733.2|Coding|4/11|c.366C>T|p.Thr122Thr|504/2469|366/1077|122/358||,T|synonymous_variant|LOW|SEPT3|SEPT3|transcript|NM_019106.5|Coding|4/10|c.366C>T|p.Thr122Thr|504/4656|366/1053|122/350|| 22 42383583 . T C . . ANN=C|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|4/10|c.414-43T>C||||||,C|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|4/9|c.414-43T>C|||||| 22 42385696 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|SEPT3|SEPT3|transcript|NM_145733.2|Coding|6/10|c.669+8G>T||||||,T|splice_region_variant&intron_variant|LOW|SEPT3|SEPT3|transcript|NM_019106.5|Coding|6/9|c.669+8G>T|||||| 22 42385700 . C G . . ANN=G|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|6/10|c.669+12C>G||||||,G|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|6/9|c.669+12C>G|||||| 22 42385701 . C G . . ANN=G|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|6/10|c.669+13C>G||||||,G|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|6/9|c.669+13C>G|||||| 22 42385720 . C T . . ANN=T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|6/10|c.669+32C>T||||||,T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|6/9|c.669+32C>T|||||| 22 42385731 . C T . . ANN=T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|6/10|c.669+43C>T||||||,T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|6/9|c.669+43C>T|||||| 22 42387568 . C T . . ANN=T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|6/10|c.670-9C>T||||||,T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|6/9|c.670-9C>T|||||| 22 42387596 . T C . . ANN=C|missense_variant|MODERATE|SEPT3|SEPT3|transcript|NM_145733.2|Coding|7/11|c.689T>C|p.Val230Ala|827/2469|689/1077|230/358||,C|missense_variant|MODERATE|SEPT3|SEPT3|transcript|NM_019106.5|Coding|7/10|c.689T>C|p.Val230Ala|827/4656|689/1053|230/350|| 22 42387654 . G A . . ANN=A|synonymous_variant|LOW|SEPT3|SEPT3|transcript|NM_145733.2|Coding|7/11|c.747G>A|p.Thr249Thr|885/2469|747/1077|249/358||,A|synonymous_variant|LOW|SEPT3|SEPT3|transcript|NM_019106.5|Coding|7/10|c.747G>A|p.Thr249Thr|885/4656|747/1053|249/350|| 22 42387681 . C T . . ANN=T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|7/10|c.765+9C>T||||||,T|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|7/9|c.765+9C>T|||||| 22 42387705 . G A . . ANN=A|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|7/10|c.765+33G>A||||||,A|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|7/9|c.765+33G>A|||||| 22 42388638 . G A . . ANN=A|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|7/10|c.766-30G>A||||||,A|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|7/9|c.766-30G>A|||||| 22 42390393 . G C . . ANN=C|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|9/10|c.917+48G>C||||||,C|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|9/9|c.917+48G>C|||||| 22 42390746 . G A . . ANN=A|missense_variant|MODERATE|SEPT3|SEPT3|transcript|NM_019106.5|Coding|10/10|c.1039G>A|p.Asp347Asn|1177/4656|1039/1053|347/350||,A|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|10/10|c.1011+28G>A|||||| 22 42390786 . A C . . ANN=C|3_prime_UTR_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|10/10|c.*26A>C|||||26|,C|intron_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_145733.2|Coding|10/10|c.1011+68A>C|||||| 22 42392945 . G A . . ANN=A|missense_variant|MODERATE|SEPT3|SEPT3|transcript|NM_145733.2|Coding|11/11|c.1051G>A|p.Ala351Thr|1189/2469|1051/1077|351/358||,A|3_prime_UTR_variant|MODIFIER|SEPT3|SEPT3|transcript|NM_019106.5|Coding|10/10|c.*2185G>A|||||2185| 22 42394785 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|1/6|c.-38C>T|||||38| 22 42394794 . C G . . ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|1/6|c.-29C>G||||||,G|5_prime_UTR_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|1/6|c.-29C>G|||||29| 22 42394835 . C G . . ANN=G|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|1/6|c.13C>G|p.Gln5Glu|107/2316|13/930|5/309|| 22 42415292 . C G . . ANN=G|intron_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|1/5|c.63-23C>G|||||| 22 42415326 . G A . . ANN=A|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|2/6|c.74G>A|p.Arg25Gln|168/2316|74/930|25/309|| 22 42415359 . G A . . ANN=A|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|2/6|c.107G>A|p.Arg36Gln|201/2316|107/930|36/309|| 22 42415381 . T C . . ANN=C|synonymous_variant|LOW|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|2/6|c.129T>C|p.Phe43Phe|223/2316|129/930|43/309|| 22 42415433 . A G . . ANN=G|intron_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|2/5|c.171+10A>G|||||| 22 42415437 . C G . . ANN=G|intron_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|2/5|c.171+14C>G|||||| 22 42415457 . ACT A . . ANN=A|intron_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|2/5|c.171+35_171+36delCT|||||| 22 42415744 . A G . . ANN=G|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|3/6|c.250A>G|p.Thr84Ala|344/2316|250/930|84/309|| 22 42415831 . T C . . ANN=C|intron_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|3/5|c.313+24T>C|||||| 22 42415841 . TC T . . ANN=T|intron_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|3/5|c.313+35delC|||||| 22 42416056 . A G . . ANN=G|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|4/6|c.362A>G|p.Asp121Gly|456/2316|362/930|121/309|| 22 42416137 . G T . . ANN=T|intron_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|4/5|c.406+37G>T|||||| 22 42418204 . A G . . ANN=G|intron_variant|MODIFIER|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|4/5|c.407-49A>G|||||| 22 42418249 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|4/5|c.407-4C>G|||||| 22 42418265 . T G . . ANN=G|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|5/6|c.419T>G|p.Phe140Cys|513/2316|419/930|140/309|| 22 42418294 . A C . . ANN=C|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|5/6|c.448A>C|p.Ser150Arg|542/2316|448/930|150/309|| 22 42418333 . A C . . ANN=C|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|5/6|c.487A>C|p.Met163Leu|581/2316|487/930|163/309|| 22 42418340 . C G . . ANN=G|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|5/6|c.494C>G|p.Thr165Ser|588/2316|494/930|165/309|| 22 42418355 . G T . . ANN=T|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|5/6|c.509G>T|p.Cys170Phe|603/2316|509/930|170/309|| 22 42422777 . CTATGGAGCCCCACCTGCAGGA C . . ANN=|inframe_deletion|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|6/6|c.538_558delGCAGGATATGGAGCCCCACCT|p.Ala180_Pro186del|632/2316|538/930|180/309||INFO_REALIGN_3_PRIME 22 42422876 . T C . . ANN=C|synonymous_variant|LOW|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|6/6|c.621T>C|p.Pro207Pro|715/2316|621/930|207/309|| 22 42422973 . GCCCCACCTCTTGGATATGGAA G . . ANN=|disruptive_inframe_deletion|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|6/6|c.729_749delTGGATATGGAACCCCACCTCT|p.Gly244_Leu250del|823/2316|729/930|243/309||INFO_REALIGN_3_PRIME 22 42423052 . A G . . ANN=G|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|6/6|c.797A>G|p.Asn266Ser|891/2316|797/930|266/309|| 22 42423069 . G A . . ANN=A|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|6/6|c.814G>A|p.Gly272Arg|908/2316|814/930|272/309|| 22 42423110 . G C . . ANN=C|missense_variant|MODERATE|WBP2NL|WBP2NL|transcript|NM_152613.2|Coding|6/6|c.855G>C|p.Gln285His|949/2316|855/930|285/309|| 22 42456238 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|9/9|c.*45G>T|||||45| 22 42456265 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|9/9|c.*18C>T|||||18| 22 42456271 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|9/9|c.*12A>C|||||12| 22 42456373 . A G . . ANN=G|synonymous_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|9/9|c.1146T>C|p.Asp382Asp|1691/3726|1146/1236|382/411|| 22 42456461 . G T . . ANN=T|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|8/8|c.1102-44C>A|||||| 22 42456944 . C A . . ANN=A|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|8/9|c.1085G>T|p.Gly362Val|1630/3726|1085/1236|362/411|| 22 42457043 . C T . . ANN=T|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|8/9|c.986G>A|p.Arg329Gln|1531/3726|986/1236|329/411|| 22 42458827 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|7/8|c.957+4C>G|||||| 22 42458942 . C T . . ANN=T|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|7/9|c.846G>A|p.Met282Ile|1391/3726|846/1236|282/411|| 22 42458951 . G T . . ANN=T|synonymous_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|7/9|c.837C>A|p.Pro279Pro|1382/3726|837/1236|279/411|| 22 42459021 . A G . . ANN=G|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|7/9|c.767T>C|p.Ile256Thr|1312/3726|767/1236|256/411|| 22 42459035 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|6/8|c.760-7C>A|||||| 22 42461804 . C T . . ANN=T|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|6/9|c.697G>A|p.Val233Met|1242/3726|697/1236|233/411|| 22 42461883 . C T . . ANN=T|synonymous_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|6/9|c.618G>A|p.Ala206Ala|1163/3726|618/1236|206/411|| 22 42461918 . G A . . ANN=A|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|5/8|c.598-15C>T|||||| 22 42462729 . G A . . ANN=A|synonymous_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|5/9|c.582C>T|p.Gly194Gly|1127/3726|582/1236|194/411|| 22 42463071 . C T . . ANN=T|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|4/8|c.502+46G>A|||||| 22 42463091 . G A . . ANN=A|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|4/8|c.502+26C>T|||||| 22 42463114 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|4/8|c.502+3G>A|||||| 22 42463140 . G C . . ANN=C|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|4/9|c.479C>G|p.Ser160Cys|1024/3726|479/1236|160/411|| 22 42463165 . T C . . ANN=C|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|4/9|c.454A>G|p.Met152Val|999/3726|454/1236|152/411|| 22 42463213 . C T . . ANN=T|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|4/9|c.406G>A|p.Asp136Asn|951/3726|406/1236|136/411|| 22 42463244 . G A . . ANN=A|synonymous_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|4/9|c.375C>T|p.Phe125Phe|920/3726|375/1236|125/411|| 22 42463267 . T C . . ANN=C|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|4/9|c.352A>G|p.Ile118Val|897/3726|352/1236|118/411|| 22 42463302 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|3/8|c.325-8C>T|||||| 22 42463342 . G A . . ANN=A|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|3/8|c.325-48C>T|||||| 22 42463736 . T C . . ANN=C|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|3/8|c.324+33A>G|||||| 22 42463768 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|NAGA|NAGA|transcript|NM_000262.2|Coding|3/8|c.324+1G>A||||||;LOF=(NAGA|NAGA|1|1.00) 22 42463769 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|3/9|c.324C>T|p.Tyr108Tyr|869/3726|324/1236|108/411|| 22 42463813 . C T . . ANN=T|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|3/9|c.280G>A|p.Asp94Asn|825/3726|280/1236|94/411|| 22 42463814 . C T . . ANN=T|synonymous_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|3/9|c.279G>A|p.Pro93Pro|824/3726|279/1236|93/411|| 22 42463897 . C T . . ANN=T|missense_variant|MODERATE|NAGA|NAGA|transcript|NM_000262.2|Coding|3/9|c.196G>A|p.Gly66Arg|741/3726|196/1236|66/411|| 22 42463976 . C T . . ANN=T|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|2/8|c.153-36G>A|||||| 22 42464570 . G A . . ANN=A|synonymous_variant|LOW|NAGA|NAGA|transcript|NM_000262.2|Coding|2/9|c.25C>T|p.Leu9Leu|570/3726|25/1236|9/411|| 22 42464614 . G A . . ANN=A|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|1/8|c.17-36C>T|||||| 22 42464617 . G T . . ANN=T|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|1/8|c.17-39C>A|||||| 22 42464618 . C T . . ANN=T|intron_variant|MODIFIER|NAGA|NAGA|transcript|NM_000262.2|Coding|1/8|c.17-40G>A|||||| 22 42473288 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.-10C>T||||||,T|5_prime_UTR_variant|MODIFIER|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.-10C>T|||||10| 22 42473376 . TG T . . ANN=|frameshift_variant|HIGH|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.86delG|p.Gly29fs|273/2332|86/780|29/259||INFO_REALIGN_3_PRIME;LOF=(FAM109B|FAM109B|1|1.00) 22 42473426 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.129C>T|p.Cys43Cys|316/2332|129/780|43/259|| 22 42473509 . G A . . ANN=A|missense_variant|MODERATE|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.212G>A|p.Gly71Asp|399/2332|212/780|71/259|| 22 42473528 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.231C>T|p.Ala77Ala|418/2332|231/780|77/259|| 22 42473586 . C T . . ANN=T|missense_variant|MODERATE|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.289C>T|p.Arg97Cys|476/2332|289/780|97/259|| 22 42473603 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.306C>T|p.Ala102Ala|493/2332|306/780|102/259|| 22 42473671 . G A . . ANN=A|missense_variant|MODERATE|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.374G>A|p.Arg125His|561/2332|374/780|125/259|| 22 42473683 . G A . . ANN=A|missense_variant|MODERATE|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.386G>A|p.Arg129His|573/2332|386/780|129/259|| 22 42473684 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.387C>T|p.Arg129Arg|574/2332|387/780|129/259|| 22 42473774 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.477C>T|p.Pro159Pro|664/2332|477/780|159/259|| 22 42473860 . C G . . ANN=G|missense_variant|MODERATE|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.563C>G|p.Ala188Gly|750/2332|563/780|188/259|| 22 42473883 . G A . . ANN=A|missense_variant|MODERATE|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.586G>A|p.Gly196Arg|773/2332|586/780|196/259|| 22 42473927 . A C . . ANN=C|synonymous_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.630A>C|p.Leu210Leu|817/2332|630/780|210/259|| 22 42473990 . T C . . ANN=C|synonymous_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.693T>C|p.Tyr231Tyr|880/2332|693/780|231/259|| 22 42474002 . C T . . ANN=T|synonymous_variant|LOW|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.705C>T|p.Ile235Ile|892/2332|705/780|235/259|| 22 42474068 . T G . . ANN=G|missense_variant|MODERATE|FAM109B|FAM109B|transcript|NM_001002034.2|Coding|3/3|c.771T>G|p.Asp257Glu|958/2332|771/780|257/259|| 22 42475797 . C T . . ANN=T|synonymous_variant|LOW|SMDT1|SMDT1|transcript|NM_033318.4|Coding|1/3|c.25C>T|p.Leu9Leu|103/1571|25/324|9/107|| 22 42475860 . G A . . ANN=A|missense_variant|MODERATE|SMDT1|SMDT1|transcript|NM_033318.4|Coding|1/3|c.88G>A|p.Asp30Asn|166/1571|88/324|30/107|| 22 42475898 . G C . . ANN=C|synonymous_variant|LOW|SMDT1|SMDT1|transcript|NM_033318.4|Coding|1/3|c.126G>C|p.Leu42Leu|204/1571|126/324|42/107|| 22 42475948 . A G . . ANN=G|missense_variant|MODERATE|SMDT1|SMDT1|transcript|NM_033318.4|Coding|1/3|c.176A>G|p.Lys59Arg|254/1571|176/324|59/107|| 22 42475971 . C T . . ANN=T|intron_variant|MODIFIER|SMDT1|SMDT1|transcript|NM_033318.4|Coding|1/2|c.186+13C>T|||||| 22 42476004 . T C . . ANN=C|intron_variant|MODIFIER|SMDT1|SMDT1|transcript|NM_033318.4|Coding|1/2|c.186+46T>C|||||| 22 42477884 . A G . . ANN=G|intron_variant|MODIFIER|SMDT1|SMDT1|transcript|NM_033318.4|Coding|1/2|c.187-45A>G|||||| 22 42477935 . T A . . ANN=A|missense_variant|MODERATE|SMDT1|SMDT1|transcript|NM_033318.4|Coding|2/3|c.193T>A|p.Phe65Ile|271/1571|193/324|65/107|| 22 42477982 . C T . . ANN=T|synonymous_variant|LOW|SMDT1|SMDT1|transcript|NM_033318.4|Coding|2/3|c.240C>T|p.Val80Val|318/1571|240/324|80/107|| 22 42478045 . G C . . ANN=C|missense_variant|MODERATE|SMDT1|SMDT1|transcript|NM_033318.4|Coding|2/3|c.303G>C|p.Glu101Asp|381/1571|303/324|101/107|| 22 42478099 . G A . . ANN=A|intron_variant|MODIFIER|SMDT1|SMDT1|transcript|NM_033318.4|Coding|2/2|c.*3+30G>A|||||| 22 42482164 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|3/3|c.*23C>T|||||23| 22 42482177 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|3/3|c.*10G>T|||||10| 22 42482195 . C T . . ANN=T|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|3/3|c.457G>A|p.Asp153Asn|519/1184|457/465|153/154|| 22 42482252 . G A . . ANN=A|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|3/3|c.400C>T|p.His134Tyr|462/1184|400/465|134/154|| 22 42482368 . A G . . ANN=G|intron_variant|MODIFIER|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|2/2|c.334-50T>C|||||| 22 42483046 . T G . . ANN=G|intron_variant|MODIFIER|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|2/2|c.333+18A>C|||||| 22 42483090 . T C . . ANN=C|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|2/3|c.307A>G|p.Arg103Gly|369/1184|307/465|103/154|| 22 42483134 . T G . . ANN=G|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|2/3|c.263A>C|p.Lys88Thr|325/1184|263/465|88/154|| 22 42483169 . G T . . ANN=T|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|2/3|c.228C>A|p.Phe76Leu|290/1184|228/465|76/154|| 22 42486611 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.216T>C|p.Thr72Thr|278/1184|216/465|72/154|| 22 42486662 . C T . . ANN=T|synonymous_variant|LOW|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.165G>A|p.Lys55Lys|227/1184|165/465|55/154|| 22 42486701 . G A . . ANN=A|synonymous_variant|LOW|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.126C>T|p.Phe42Phe|188/1184|126/465|42/154|| 22 42486713 . G A . . ANN=A|synonymous_variant|LOW|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.114C>T|p.Thr38Thr|176/1184|114/465|38/154|| 22 42486723 . G A . . ANN=A|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.104C>T|p.Ala35Val|166/1184|104/465|35/154|| 22 42486742 . C T . . ANN=T|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.85G>A|p.Gly29Arg|147/1184|85/465|29/154|| 22 42486755 . A C . . ANN=C|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.72T>G|p.Phe24Leu|134/1184|72/465|24/154|| 22 42486789 . G A . . ANN=A|missense_variant|MODERATE|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.38C>T|p.Ala13Val|100/1184|38/465|13/154|| 22 42486842 . G GC . . ANN=GC|5_prime_UTR_variant|MODIFIER|NDUFA6|NDUFA6|transcript|NM_002490.3|Coding|1/3|c.-17dupG|||||17| 22 42522613 . G C . . ANN=C|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|9/9|c.1457C>G|p.Thr486Ser|1547/1659|1457/1494|486/497||,C|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|8/8|c.1304C>G|p.Thr435Ser|1394/1506|1304/1341|435/446||,C|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|9/9|n.1546C>G|||||| 22 42523639 . G GGACA . . ANN=GGACA|splice_region_variant&intron_variant|LOW|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/8|c.986-4_986-3insTGTC||||||,GGACA|splice_region_variant&intron_variant|LOW|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/8|n.1075-4_1075-3insTGTC||||||,GGACA|splice_region_variant&intron_variant|LOW|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/7|c.833-4_833-3insTGTC|||||| 22 42523805 . C T . . ANN=T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/8|c.985+39G>A||||||,T|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/8|n.1074+39G>A||||||,T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/7|c.832+39G>A|||||| 22 42523809 . C T . . ANN=T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/8|c.985+35G>A||||||,T|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/8|n.1074+35G>A||||||,T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/7|c.832+35G>A|||||| 22 42523813 . G A . . ANN=A|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/8|c.985+31C>T||||||,A|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/8|n.1074+31C>T||||||,A|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/7|c.832+31C>T|||||| 22 42523832 . A AGAT . . ANN=AGAT|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/8|c.985+11_985+12insATC||||||,AGAT|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/8|n.1074+11_1074+12insATC||||||,AGAT|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/7|c.832+11_832+12insATC|||||| 22 42523833 . G A . . ANN=A|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/8|c.985+11C>T||||||,A|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/8|n.1074+11C>T||||||,A|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/7|c.832+11C>T|||||| 22 42523835 . T C . . ANN=C|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/8|c.985+9A>G||||||,C|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/8|n.1074+9A>G||||||,C|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/7|c.832+9A>G|||||| 22 42523854 . C T . . ANN=T|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/9|c.975G>A|p.Pro325Pro|1065/1659|975/1494|325/497||,T|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/8|c.822G>A|p.Pro274Pro|912/1506|822/1341|274/446||,T|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/9|n.1064G>A|||||| 22 42523871 . G A . . ANN=A|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/9|c.958C>T|p.Leu320Phe|1048/1659|958/1494|320/497||,A|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/8|c.805C>T|p.Leu269Phe|895/1506|805/1341|269/446||,A|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/9|n.1047C>T|||||| 22 42523872 . C T . . ANN=T|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/9|c.957G>A|p.Leu319Leu|1047/1659|957/1494|319/497||,T|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/8|c.804G>A|p.Leu268Leu|894/1506|804/1341|268/446||,T|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/9|n.1046G>A|||||| 22 42523896 . C T . . ANN=T|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|6/9|c.933G>A|p.Ser311Ser|1023/1659|933/1494|311/497||,T|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|5/8|c.780G>A|p.Ser260Ser|870/1506|780/1341|260/446||,T|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|6/9|n.1022G>A|||||| 22 42524033 . A T . . ANN=T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|5/8|c.844-48T>A||||||,T|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|5/8|n.933-48T>A||||||,T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|4/7|c.691-48T>A|||||| 22 42524130 . C T . . ANN=T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|5/8|c.843+46G>A||||||,T|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|5/8|n.932+46G>A||||||,T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|4/7|c.690+46G>A|||||| 22 42524175 . CCTT C . . ANN=C|inframe_deletion&splice_region_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|5/9|c.841_843delAAG|p.Lys281del|933/1659|841/1494|281/497||,C|inframe_deletion&splice_region_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|4/8|c.688_690delAAG|p.Lys230del|780/1506|688/1341|230/446||,C|splice_region_variant&non_coding_exon_variant|LOW|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|5/9|n.930_932delAAG|||||| 22 42524191 . C A . . ANN=A|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|5/9|c.828G>T|p.Leu276Leu|918/1659|828/1494|276/497||,A|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|4/8|c.675G>T|p.Leu225Leu|765/1506|675/1341|225/446||,A|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|5/9|n.917G>T|||||| 22 42524213 . C CG . . ANN=CG|frameshift_variant|HIGH|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|5/9|c.805dupC|p.Arg269fs|895/1659|805/1494|269/497||,CG|frameshift_variant|HIGH|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|4/8|c.652dupC|p.Arg218fs|742/1506|652/1341|218/446||,CG|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|5/9|n.894dupC||||||;LOF=(CYP2D6|CYP2D6|2|1.00) 22 42524243 . CT C . . ANN=C|frameshift_variant|HIGH|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|5/9|c.775delA|p.Arg259fs|865/1659|775/1494|259/497||,C|frameshift_variant|HIGH|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|4/8|c.622delA|p.Arg208fs|712/1506|622/1341|208/446||,C|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|5/9|n.864delA||||||;LOF=(CYP2D6|CYP2D6|2|1.00) 22 42524322 . T G . . ANN=G|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|5/9|c.697A>C|p.Ile233Leu|787/1659|697/1494|233/497||,G|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|4/8|c.544A>C|p.Ile182Leu|634/1506|544/1341|182/446||,G|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|5/9|n.786A>C|||||| 22 42524820 . T TC . . ANN=TC|frameshift_variant|HIGH|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|4/9|c.631dupG|p.Glu211fs|721/1659|631/1494|211/497||,TC|frameshift_variant|HIGH|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|3/8|c.478dupG|p.Glu160fs|568/1506|478/1341|160/446||,TC|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|4/9|n.720dupG||||||;LOF=(CYP2D6|CYP2D6|2|1.00) 22 42525046 . G A . . ANN=A|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|3/9|c.494C>T|p.Ala165Val|584/1659|494/1494|165/497||,A|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|2/7|c.353-100C>T||||||,A|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|3/9|n.584C>T|||||| 22 42525085 . CA C . . ANN=C|frameshift_variant|HIGH|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|3/9|c.454delT|p.Trp152fs|544/1659|454/1494|152/497||,C|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|2/7|c.353-140delT||||||,C|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|3/9|n.544delT||||||;LOF=(CYP2D6|CYP2D6|2|0.50) 22 42525134 . C T . . ANN=T|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|3/9|c.406G>A|p.Val136Ile|496/1659|406/1494|136/497||,T|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|2/7|c.353-188G>A||||||,T|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|3/9|n.496G>A|||||| 22 42525728 . A C . . ANN=C|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|2/8|c.352+12T>G||||||,C|intron_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|2/8|n.442+12T>G||||||,C|intron_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|2/7|c.352+12T>G|||||| 22 42525756 . G A . . ANN=A|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|2/9|c.336C>T|p.Phe112Phe|426/1659|336/1494|112/497||,A|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|2/8|c.336C>T|p.Phe112Phe|426/1506|336/1341|112/446||,A|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|2/9|n.426C>T|||||| 22 42525772 . G A . . ANN=A|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|2/9|c.320C>T|p.Thr107Ile|410/1659|320/1494|107/497||,A|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|2/8|c.320C>T|p.Thr107Ile|410/1506|320/1341|107/446||,A|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|2/9|n.410C>T|||||| 22 42525801 . G C . . ANN=C|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|2/9|c.291C>G|p.Asp97Glu|381/1659|291/1494|97/497||,C|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|2/8|c.291C>G|p.Asp97Glu|381/1506|291/1341|97/446||,C|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|2/9|n.381C>G|||||| 22 42526763 . C T . . ANN=T|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|1/9|c.31G>A|p.Val11Met|121/1659|31/1494|11/497||,T|missense_variant|MODERATE|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|1/8|c.31G>A|p.Val11Met|121/1506|31/1341|11/446||,T|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|1/9|n.121G>A|||||| 22 42526778 . G A . . ANN=A|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|1/9|c.16C>T|p.Leu6Leu|106/1659|16/1494|6/497||,A|synonymous_variant|LOW|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|1/8|c.16C>T|p.Leu6Leu|106/1506|16/1341|6/446||,A|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|1/9|n.106C>T|||||| 22 42526836 . A AC . . ANN=AC|5_prime_UTR_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_000106.5|Coding|1/9|c.-44dupG|||||44|,AC|5_prime_UTR_variant|MODIFIER|CYP2D6|CYP2D6|transcript|NM_001025161.2|Coding|1/8|c.-44dupG|||||44|,AC|non_coding_exon_variant|MODIFIER|LOC101929829|LOC101929829|transcript|NR_111920.1|Noncoding|1/9|n.47dupG|||||| 22 42557344 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|TCF20|TCF20|transcript|NM_005650.2|Coding|5/5|c.*65A>G|||||7315|,C|3_prime_UTR_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|4/4|c.*3A>G|||||3| 22 42557356 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|4/4|c.5808G>A|p.Leu1936Leu|5844/7181|5808/5817|1936/1938||,T|3_prime_UTR_variant|MODIFIER|TCF20|TCF20|transcript|NM_005650.2|Coding|5/5|c.*53G>A|||||7303| 22 42557363 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|4/4|c.5801T>C|p.Val1934Ala|5837/7181|5801/5817|1934/1938||,G|splice_region_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|5/5|c.*46T>C||||||,G|3_prime_UTR_variant|MODIFIER|TCF20|TCF20|transcript|NM_005650.2|Coding|5/5|c.*46T>C|||||7296| 22 42557413 . C A . . ANN=A|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_005650.2|Coding|4/4|c.*45-49G>T||||||,A|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|3/3|c.5800-49G>T|||||| 22 42564698 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|4/5|c.5844G>A|p.Ala1948Ala|5880/7309|5844/5883|1948/1960||,T|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|3/3|c.5799+1155G>A|||||| 22 42564718 . G A,C,T . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|4/5|c.5824C>T|p.Pro1942Ser|5860/7309|5824/5883|1942/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|4/5|c.5824C>G|p.Pro1942Ala|5860/7309|5824/5883|1942/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|4/5|c.5824C>A|p.Pro1942Thr|5860/7309|5824/5883|1942/1960||,A|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|3/3|c.5799+1135C>T||||||,C|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|3/3|c.5799+1135C>G||||||,T|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|3/3|c.5799+1135C>A|||||| 22 42564732 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|4/5|c.5810C>T|p.Pro1937Leu|5846/7309|5810/5883|1937/1960||,A|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|3/3|c.5799+1121C>T|||||| 22 42564750 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|3/4|c.5800-8C>T||||||,A|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|3/3|c.5799+1103C>T|||||| 22 42565835 . T C . . ANN=C|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_005650.2|Coding|3/4|c.5799+18A>G||||||,C|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|3/3|c.5799+18A>G|||||| 22 42565950 . T C . . ANN=C|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_005650.2|Coding|2/4|c.5750-48A>G||||||,C|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|2/3|c.5750-48A>G|||||| 22 42575632 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|2/5|c.5732C>T|p.Pro1911Leu|5768/7309|5732/5883|1911/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|2/4|c.5732C>T|p.Pro1911Leu|5768/7181|5732/5817|1911/1938|| 22 42575687 . C T . . ANN=T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|2/5|c.5677G>A|p.Ala1893Thr|5713/7309|5677/5883|1893/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|2/4|c.5677G>A|p.Ala1893Thr|5713/7181|5677/5817|1893/1938|| 22 42575719 . G A . . ANN=A|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_005650.2|Coding|1/4|c.5656-11C>T||||||,A|intron_variant|MODIFIER|TCF20|TCF20|transcript|NM_181492.2|Coding|1/3|c.5656-11C>T|||||| 22 42605724 . T C . . ANN=C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.5588A>G|p.Asn1863Ser|5624/7309|5588/5883|1863/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.5588A>G|p.Asn1863Ser|5624/7181|5588/5817|1863/1938|| 22 42605821 . T C . . ANN=C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.5491A>G|p.Thr1831Ala|5527/7309|5491/5883|1831/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.5491A>G|p.Thr1831Ala|5527/7181|5491/5817|1831/1938|| 22 42605878 . C T . . ANN=T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.5434G>A|p.Ala1812Thr|5470/7309|5434/5883|1812/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.5434G>A|p.Ala1812Thr|5470/7181|5434/5817|1812/1938|| 22 42606257 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.5055G>A|p.Ser1685Ser|5091/7309|5055/5883|1685/1960||,T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.5055G>A|p.Ser1685Ser|5091/7181|5055/5817|1685/1938|| 22 42606263 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.5049G>A|p.Pro1683Pro|5085/7309|5049/5883|1683/1960||,T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.5049G>A|p.Pro1683Pro|5085/7181|5049/5817|1683/1938|| 22 42606744 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.4568C>T|p.Pro1523Leu|4604/7309|4568/5883|1523/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.4568C>T|p.Pro1523Leu|4604/7181|4568/5817|1523/1938|| 22 42606818 . A G . . ANN=G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.4494T>C|p.Pro1498Pro|4530/7309|4494/5883|1498/1960||,G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.4494T>C|p.Pro1498Pro|4530/7181|4494/5817|1498/1938|| 22 42606905 . T C . . ANN=C|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.4407A>G|p.Ser1469Ser|4443/7309|4407/5883|1469/1960||,C|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.4407A>G|p.Ser1469Ser|4443/7181|4407/5817|1469/1938|| 22 42606992 . G A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.4320C>T|p.Ser1440Ser|4356/7309|4320/5883|1440/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.4320C>T|p.Ser1440Ser|4356/7181|4320/5817|1440/1938|| 22 42607071 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.4241C>T|p.Ser1414Leu|4277/7309|4241/5883|1414/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.4241C>T|p.Ser1414Leu|4277/7181|4241/5817|1414/1938|| 22 42607085 . T C . . ANN=C|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.4227A>G|p.Lys1409Lys|4263/7309|4227/5883|1409/1960||,C|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.4227A>G|p.Lys1409Lys|4263/7181|4227/5817|1409/1938|| 22 42607160 . A G . . ANN=G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.4152T>C|p.Asp1384Asp|4188/7309|4152/5883|1384/1960||,G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.4152T>C|p.Asp1384Asp|4188/7181|4152/5817|1384/1938|| 22 42607194 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.4118C>T|p.Ala1373Val|4154/7309|4118/5883|1373/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.4118C>T|p.Ala1373Val|4154/7181|4118/5817|1373/1938|| 22 42607338 . C T . . ANN=T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3974G>A|p.Ser1325Asn|4010/7309|3974/5883|1325/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3974G>A|p.Ser1325Asn|4010/7181|3974/5817|1325/1938|| 22 42607451 . T A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3861A>T|p.Ser1287Ser|3897/7309|3861/5883|1287/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3861A>T|p.Ser1287Ser|3897/7181|3861/5817|1287/1938|| 22 42607652 . T A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3660A>T|p.Gly1220Gly|3696/7309|3660/5883|1220/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3660A>T|p.Gly1220Gly|3696/7181|3660/5817|1220/1938|| 22 42607690 . T C . . ANN=C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3622A>G|p.Ser1208Gly|3658/7309|3622/5883|1208/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3622A>G|p.Ser1208Gly|3658/7181|3622/5817|1208/1938|| 22 42607817 . C T . . ANN=T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3495G>A|p.Met1165Ile|3531/7309|3495/5883|1165/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3495G>A|p.Met1165Ile|3531/7181|3495/5817|1165/1938|| 22 42607937 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3375G>A|p.Gln1125Gln|3411/7309|3375/5883|1125/1960||,T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3375G>A|p.Gln1125Gln|3411/7181|3375/5817|1125/1938|| 22 42607947 . C G . . ANN=G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3365G>C|p.Ser1122Thr|3401/7309|3365/5883|1122/1960||,G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3365G>C|p.Ser1122Thr|3401/7181|3365/5817|1122/1938|| 22 42608024 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3288G>A|p.Glu1096Glu|3324/7309|3288/5883|1096/1960||,T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3288G>A|p.Glu1096Glu|3324/7181|3288/5817|1096/1938|| 22 42608203 . T C . . ANN=C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3109A>G|p.Met1037Val|3145/7309|3109/5883|1037/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3109A>G|p.Met1037Val|3145/7181|3109/5817|1037/1938|| 22 42608238 . C A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.3074G>T|p.Gly1025Val|3110/7309|3074/5883|1025/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.3074G>T|p.Gly1025Val|3110/7181|3074/5817|1025/1938|| 22 42608314 . C G . . ANN=G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.2998G>C|p.Gly1000Arg|3034/7309|2998/5883|1000/1960||,G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.2998G>C|p.Gly1000Arg|3034/7181|2998/5817|1000/1938|| 22 42608432 . A G . . ANN=G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.2880T>C|p.Ser960Ser|2916/7309|2880/5883|960/1960||,G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.2880T>C|p.Ser960Ser|2916/7181|2880/5817|960/1938|| 22 42608515 . A G . . ANN=G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.2797T>C|p.Phe933Leu|2833/7309|2797/5883|933/1960||,G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.2797T>C|p.Phe933Leu|2833/7181|2797/5817|933/1938|| 22 42608568 . A C . . ANN=C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.2744T>G|p.Val915Gly|2780/7309|2744/5883|915/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.2744T>G|p.Val915Gly|2780/7181|2744/5817|915/1938|| 22 42608574 . C T . . ANN=T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.2738G>A|p.Gly913Asp|2774/7309|2738/5883|913/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.2738G>A|p.Gly913Asp|2774/7181|2738/5817|913/1938|| 22 42609148 . T C . . ANN=C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.2164A>G|p.Ser722Gly|2200/7309|2164/5883|722/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.2164A>G|p.Ser722Gly|2200/7181|2164/5817|722/1938|| 22 42609249 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.2063C>T|p.Ala688Val|2099/7309|2063/5883|688/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.2063C>T|p.Ala688Val|2099/7181|2063/5817|688/1938|| 22 42609539 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.1773G>A|p.Leu591Leu|1809/7309|1773/5883|591/1960||,T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.1773G>A|p.Leu591Leu|1809/7181|1773/5817|591/1938|| 22 42609579 . C G . . ANN=G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.1733G>C|p.Arg578Thr|1769/7309|1733/5883|578/1960||,G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.1733G>C|p.Arg578Thr|1769/7181|1733/5817|578/1938|| 22 42609845 . G A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.1467C>T|p.Pro489Pro|1503/7309|1467/5883|489/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.1467C>T|p.Pro489Pro|1503/7181|1467/5817|489/1938|| 22 42609858 . G T . . ANN=T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.1454C>A|p.Thr485Asn|1490/7309|1454/5883|485/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.1454C>A|p.Thr485Asn|1490/7181|1454/5817|485/1938|| 22 42609871 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.1441C>T|p.Pro481Ser|1477/7309|1441/5883|481/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.1441C>T|p.Pro481Ser|1477/7181|1441/5817|481/1938|| 22 42609872 . A C . . ANN=C|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.1440T>G|p.Thr480Thr|1476/7309|1440/5883|480/1960||,C|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.1440T>G|p.Thr480Thr|1476/7181|1440/5817|480/1938|| 22 42610099 . T C . . ANN=C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.1213A>G|p.Met405Val|1249/7309|1213/5883|405/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.1213A>G|p.Met405Val|1249/7181|1213/5817|405/1938|| 22 42610256 . A G . . ANN=G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.1056T>C|p.Val352Val|1092/7309|1056/5883|352/1960||,G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.1056T>C|p.Val352Val|1092/7181|1056/5817|352/1938|| 22 42610336 . G C . . ANN=C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.976C>G|p.Gln326Glu|1012/7309|976/5883|326/1960||,C|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.976C>G|p.Gln326Glu|1012/7181|976/5817|326/1938|| 22 42610343 . GTGT G . . ANN=G|disruptive_inframe_deletion|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.966_968delACA|p.Gln322del|1004/7309|966/5883|322/1960||,G|disruptive_inframe_deletion|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.966_968delACA|p.Gln322del|1004/7181|966/5817|322/1938|| 22 42610547 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.765G>A|p.Gln255Gln|801/7309|765/5883|255/1960||,T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.765G>A|p.Gln255Gln|801/7181|765/5817|255/1938|| 22 42610583 . G A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.729C>T|p.Ser243Ser|765/7309|729/5883|243/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.729C>T|p.Ser243Ser|765/7181|729/5817|243/1938|| 22 42610653 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.659C>T|p.Ser220Phe|695/7309|659/5883|220/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.659C>T|p.Ser220Phe|695/7181|659/5817|220/1938|| 22 42610728 . G T . . ANN=T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.584C>A|p.Pro195Gln|620/7309|584/5883|195/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.584C>A|p.Pro195Gln|620/7181|584/5817|195/1938|| 22 42610793 . G A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.519C>T|p.Ser173Ser|555/7309|519/5883|173/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.519C>T|p.Ser173Ser|555/7181|519/5817|173/1938|| 22 42610871 . G A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.441C>T|p.Gly147Gly|477/7309|441/5883|147/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.441C>T|p.Gly147Gly|477/7181|441/5817|147/1938|| 22 42610958 . A G . . ANN=G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.354T>C|p.Tyr118Tyr|390/7309|354/5883|118/1960||,G|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.354T>C|p.Tyr118Tyr|390/7181|354/5817|118/1938|| 22 42610968 . A G . . ANN=G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.344T>C|p.Val115Ala|380/7309|344/5883|115/1960||,G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.344T>C|p.Val115Ala|380/7181|344/5817|115/1938|| 22 42611053 . C T . . ANN=T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.259G>A|p.Gly87Arg|295/7309|259/5883|87/1960||,T|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.259G>A|p.Gly87Arg|295/7181|259/5817|87/1938|| 22 42611077 . A AACC . . ANN=AACC|inframe_insertion|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.232_234dupGGT|p.Gly78dup|270/7309|234/5883|78/1960||,AACC|inframe_insertion|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.232_234dupGGT|p.Gly78dup|270/7181|234/5817|78/1938|| 22 42611099 . G A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.213C>T|p.Ser71Ser|249/7309|213/5883|71/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.213C>T|p.Ser71Ser|249/7181|213/5817|71/1938|| 22 42611108 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.204G>A|p.Ala68Ala|240/7309|204/5883|68/1960||,T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.204G>A|p.Ala68Ala|240/7181|204/5817|68/1938|| 22 42611113 . C A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.199G>T|p.Ala67Ser|235/7309|199/5883|67/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.199G>T|p.Ala67Ser|235/7181|199/5817|67/1938|| 22 42611114 . C T . . ANN=T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.198G>A|p.Ala66Ala|234/7309|198/5883|66/1960||,T|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.198G>A|p.Ala66Ala|234/7181|198/5817|66/1938|| 22 42611115 . G A . . ANN=A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.197C>T|p.Ala66Val|233/7309|197/5883|66/1960||,A|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.197C>T|p.Ala66Val|233/7181|197/5817|66/1938|| 22 42611144 . ACCACTG A . . ANN=A|disruptive_inframe_deletion|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.162_167delCAGTGG|p.Ser55_Gly56del|203/7309|162/5883|54/1960||,A|disruptive_inframe_deletion|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.162_167delCAGTGG|p.Ser55_Gly56del|203/7181|162/5817|54/1938|| 22 42611174 . G A . . ANN=A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.138C>T|p.Gly46Gly|174/7309|138/5883|46/1960||,A|synonymous_variant|LOW|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.138C>T|p.Gly46Gly|174/7181|138/5817|46/1938|| 22 42611265 . C G . . ANN=G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_005650.2|Coding|1/5|c.47G>C|p.Ser16Thr|83/7309|47/5883|16/1960||,G|missense_variant|MODERATE|TCF20|TCF20|transcript|NM_181492.2|Coding|1/4|c.47G>C|p.Ser16Thr|83/7181|47/5817|16/1938|| 22 42611360 . G A . . ANN=A|intergenic_region|MODIFIER|TCF20-OGFRP1|TCF20-OGFRP1|intergenic_region|TCF20-OGFRP1||||||||| 22 42781187 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|6/6|c.793C>T|p.Leu265Leu|831/5604|793/813|265/270|| 22 42781198 . C G . . ANN=G|missense_variant|MODERATE|NFAM1|NFAM1|transcript|NM_145912.5|Coding|6/6|c.782G>C|p.Gly261Ala|820/5604|782/813|261/270|| 22 42781200 . A G . . ANN=G|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|6/6|c.780T>C|p.Asp260Asp|818/5604|780/813|260/270|| 22 42781208 . C T . . ANN=T|missense_variant|MODERATE|NFAM1|NFAM1|transcript|NM_145912.5|Coding|6/6|c.772G>A|p.Glu258Lys|810/5604|772/813|258/270|| 22 42781209 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|6/6|c.771C>T|p.Phe257Phe|809/5604|771/813|257/270|| 22 42781219 . G A . . ANN=A|missense_variant|MODERATE|NFAM1|NFAM1|transcript|NM_145912.5|Coding|6/6|c.761C>T|p.Pro254Leu|799/5604|761/813|254/270|| 22 42782982 . A T . . ANN=T|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|5/5|c.753+13T>A|||||| 22 42782985 . G A . . ANN=A|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|5/5|c.753+10C>T|||||| 22 42783019 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|5/6|c.729C>T|p.Thr243Thr|767/5604|729/813|243/270|| 22 42783064 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|5/6|c.684C>T|p.Thr228Thr|722/5604|684/813|228/270|| 22 42783070 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|5/6|c.678C>T|p.Arg226Arg|716/5604|678/813|226/270|| 22 42783096 . G A . . ANN=A|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|4/5|c.664-12C>T|||||| 22 42783130 . G T . . ANN=T|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|4/5|c.664-46C>A|||||| 22 42793845 . C T . . ANN=T|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|4/5|c.663+19G>A|||||| 22 42793846 . G A . . ANN=A|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|4/5|c.663+18C>T|||||| 22 42793873 . A G . . ANN=G|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|4/6|c.654T>C|p.Ser218Ser|692/5604|654/813|218/270|| 22 42793987 . C T . . ANN=T|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|3/5|c.565-25G>A|||||| 22 42794001 . T C . . ANN=C|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|3/5|c.565-39A>G|||||| 22 42805436 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|3/5|c.564+5G>A|||||| 22 42805437 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|3/5|c.564+4C>T|||||| 22 42805444 . G C . . ANN=C|missense_variant|MODERATE|NFAM1|NFAM1|transcript|NM_145912.5|Coding|3/6|c.561C>G|p.Asn187Lys|599/5604|561/813|187/270|| 22 42805496 . G GTGA . . ANN=GTGA|inframe_insertion|MODERATE|NFAM1|NFAM1|transcript|NM_145912.5|Coding|3/6|c.506_508dupTCA|p.Phe169_Thr170insIle|546/5604|508/813|170/270|| 22 42805531 . C T . . ANN=T|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|3/6|c.474G>A|p.Pro158Pro|512/5604|474/813|158/270|| 22 42805580 . G T . . ANN=T|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|2/5|c.452-27C>A|||||| 22 42807401 . A G . . ANN=G|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|2/5|c.451+12T>C|||||| 22 42807455 . G A . . ANN=A|missense_variant|MODERATE|NFAM1|NFAM1|transcript|NM_145912.5|Coding|2/6|c.409C>T|p.His137Tyr|447/5604|409/813|137/270|| 22 42807612 . A G . . ANN=G|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|2/6|c.252T>C|p.His84His|290/5604|252/813|84/270|| 22 42828212 . G T . . ANN=T|intron_variant|MODIFIER|NFAM1|NFAM1|transcript|NM_145912.5|Coding|1/5|c.121+31C>A|||||| 22 42828277 . G A . . ANN=A|synonymous_variant|LOW|NFAM1|NFAM1|transcript|NM_145912.5|Coding|1/6|c.87C>T|p.Gly29Gly|125/5604|87/813|29/270|| 22 42828404 . G A . . ANN=A|intergenic_region|MODIFIER|NFAM1-SERHL|NFAM1-SERHL|intergenic_region|NFAM1-SERHL||||||||| 22 42908870 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|7/7|c.*46A>C|||||46| 22 42908897 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|7/7|c.*19A>G|||||19| 22 42908903 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|7/7|c.*13G>T|||||13| 22 42910142 . C T . . ANN=T|missense_variant|MODERATE|RRP7A|RRP7A|transcript|NM_015703.4|Coding|6/7|c.727G>A|p.Ala243Thr|764/5455|727/843|243/280|| 22 42910685 . T TA . . ANN=TA|splice_donor_variant&intron_variant|HIGH|RRP7A|RRP7A|transcript|NM_015703.4|Coding|5/6|c.558+2_558+3insT||||||;LOF=(RRP7A|RRP7A|1|1.00) 22 42910786 . C CT . . ANN=CT|splice_acceptor_variant&intron_variant|HIGH|RRP7A|RRP7A|transcript|NM_015703.4|Coding|4/6|c.461-2_461-1insA||||||;LOF=(RRP7A|RRP7A|1|1.00) 22 42911973 . C CCCA . . ANN=CCCA|intron_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/6|c.342+43_342+44insTGG|||||| 22 42911980 . C G . . ANN=G|intron_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/6|c.342+37G>C|||||| 22 42911981 . C G . . ANN=G|intron_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/6|c.342+36G>C|||||| 22 42912011 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/6|c.342+6C>T|||||| 22 42912024 . G A . . ANN=A|missense_variant|MODERATE|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/7|c.335C>T|p.Pro112Leu|372/5455|335/843|112/280|| 22 42912029 . G T . . ANN=T|synonymous_variant|LOW|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/7|c.330C>A|p.Pro110Pro|367/5455|330/843|110/280|| 22 42912091 . A G . . ANN=G|synonymous_variant|LOW|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/7|c.268T>C|p.Leu90Leu|305/5455|268/843|90/280|| 22 42912097 . C T . . ANN=T|missense_variant|MODERATE|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/7|c.262G>A|p.Val88Ile|299/5455|262/843|88/280|| 22 42912106 . C T . . ANN=T|missense_variant|MODERATE|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/7|c.253G>A|p.Val85Ile|290/5455|253/843|85/280|| 22 42912136 . G T . . ANN=T|missense_variant|MODERATE|RRP7A|RRP7A|transcript|NM_015703.4|Coding|3/7|c.223C>A|p.Leu75Met|260/5455|223/843|75/280|| 22 42913971 . T C . . ANN=C|intron_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|2/6|c.216+40A>G|||||| 22 42915711 . G T . . ANN=T|intron_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|1/6|c.73+9C>A|||||| 22 42915803 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|RRP7A|RRP7A|transcript|NM_015703.4|Coding|1/7|c.-11C>T||||||,A|5_prime_UTR_variant|MODIFIER|RRP7A|RRP7A|transcript|NM_015703.4|Coding|1/7|c.-11C>T|||||11| 22 42949982 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_014509.4|Coding|1/12|c.-45C>T|||||45|,T|5_prime_UTR_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|1/10|c.-45C>T|||||45|,T|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|1/11|n.115C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|1/11|n.115C>T|||||| 22 42950004 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_014509.4|Coding|1/12|c.-23A>G|||||23|,G|5_prime_UTR_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|1/10|c.-23A>G|||||23|,G|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|1/11|n.137A>G||||||,G|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|1/11|n.137A>G|||||| 22 42950033 . G A . . ANN=A|missense_variant|MODERATE|SERHL2|SERHL2|transcript|NM_014509.4|Coding|1/12|c.7G>A|p.Glu3Lys|166/1431|7/945|3/314||,A|missense_variant|MODERATE|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|1/10|c.7G>A|p.Glu3Lys|166/1239|7/753|3/250||,A|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|1/11|n.166G>A||||||,A|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|1/11|n.166G>A|||||| 22 42950055 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NM_014509.4|Coding|1/11|c.22+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|1/9|c.22+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|1/10|n.181+7C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|1/10|n.181+7C>T|||||| 22 42952488 . CT C . . ANN=C|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_014509.4|Coding|5/11|c.349-31delT||||||,C|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|3/9|c.157-31delT||||||,C|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|5/10|n.524-31delT||||||,C|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|5/10|n.508-31delT|||||| 22 42956183 . TC T . . ANN=T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NM_014509.4|Coding|7/11|c.534-8delC||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|5/9|c.342-8delC||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|7/10|n.709-8delC||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|7/10|n.693-8delC|||||| 22 42956189 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NM_014509.4|Coding|7/11|c.534-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|5/9|c.342-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|7/10|n.709-3C>T||||||,T|splice_region_variant&intron_variant|LOW|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|7/10|n.693-3C>T|||||| 22 42956211 . C T . . ANN=T|missense_variant|MODERATE|SERHL2|SERHL2|transcript|NM_014509.4|Coding|8/12|c.553C>T|p.His185Tyr|712/1431|553/945|185/314||,T|missense_variant|MODERATE|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|6/10|c.361C>T|p.His121Tyr|520/1239|361/753|121/250||,T|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|8/11|n.728C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|8/11|n.712C>T|||||| 22 42956224 . A C . . ANN=C|missense_variant|MODERATE|SERHL2|SERHL2|transcript|NM_014509.4|Coding|8/12|c.566A>C|p.Glu189Ala|725/1431|566/945|189/314||,C|missense_variant|MODERATE|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|6/10|c.374A>C|p.Glu125Ala|533/1239|374/753|125/250||,C|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|8/11|n.741A>C||||||,C|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|8/11|n.725A>C|||||| 22 42956273 . T A . . ANN=A|splice_donor_variant&intron_variant|HIGH|SERHL2|SERHL2|transcript|NM_014509.4|Coding|8/11|c.613+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|6/9|c.421+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|8/10|n.788+2T>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|8/10|n.772+2T>A||||||;LOF=(SERHL2|SERHL2|4|0.50) 22 42956284 . A G . . ANN=G|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_014509.4|Coding|8/11|c.613+13A>G||||||,G|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|6/9|c.421+13A>G||||||,G|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|8/10|n.788+13A>G||||||,G|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|8/10|n.772+13A>G|||||| 22 42962329 . C T . . ANN=T|synonymous_variant|LOW|SERHL2|SERHL2|transcript|NM_014509.4|Coding|9/12|c.633C>T|p.Asp211Asp|792/1431|633/945|211/314||,T|synonymous_variant|LOW|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|7/10|c.441C>T|p.Asp147Asp|600/1239|441/753|147/250||,T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|8/10|n.789-4798C>T||||||,T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|8/10|n.773-4798C>T|||||| 22 42962330 . C T . . ANN=T|stop_gained|HIGH|SERHL2|SERHL2|transcript|NM_014509.4|Coding|9/12|c.634C>T|p.Gln212*|793/1431|634/945|212/314||,T|stop_gained|HIGH|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|7/10|c.442C>T|p.Gln148*|601/1239|442/753|148/250||,T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|8/10|n.789-4797C>T||||||,T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|8/10|n.773-4797C>T||||||;LOF=(SERHL2|SERHL2|4|0.50);NMD=(SERHL2|SERHL2|4|0.50) 22 42962356 . T G . . ANN=G|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_014509.4|Coding|9/11|c.648+12T>G||||||,G|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|7/9|c.456+12T>G||||||,G|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|8/10|n.789-4771T>G||||||,G|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|8/10|n.773-4771T>G|||||| 22 42962359 . C T . . ANN=T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_014509.4|Coding|9/11|c.648+15C>T||||||,T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|7/9|c.456+15C>T||||||,T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|8/10|n.789-4768C>T||||||,T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|8/10|n.773-4768C>T|||||| 22 42967257 . C T . . ANN=T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_014509.4|Coding|10/11|c.731+48C>T||||||,T|intron_variant|MODIFIER|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|8/9|c.539+48C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|9/11|n.919C>T||||||,T|non_coding_exon_variant|MODIFIER|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|9/11|n.903C>T|||||| 22 42968536 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|SERHL2|SERHL2|transcript|NM_014509.4|Coding|11/11|c.825+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|9/9|c.633+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|10/10|n.1663+1G>A||||||,A|splice_donor_variant&intron_variant|HIGH|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|10/10|n.1647+1G>A||||||;LOF=(SERHL2|SERHL2|4|0.50) 22 42969938 . CCAG C . . ANN=|inframe_deletion&splice_region_variant|MODERATE|SERHL2|SERHL2|transcript|NM_014509.4|Coding|12/12|c.826_828delCAG|p.Gln276del|985/1431|826/945|276/314||INFO_REALIGN_3_PRIME,|inframe_deletion&splice_region_variant|MODERATE|SERHL2|SERHL2|transcript|NM_001284334.1|Coding|10/10|c.634_636delCAG|p.Gln212del|793/1239|634/753|212/250||INFO_REALIGN_3_PRIME,|splice_region_variant&non_coding_exon_variant|LOW|SERHL2|SERHL2|transcript|NR_104300.1|Noncoding|11/11|n.1664_1666delCAG||||||INFO_REALIGN_3_PRIME,|splice_region_variant&non_coding_exon_variant|LOW|SERHL2|SERHL2|transcript|NR_104301.1|Noncoding|11/11|n.1648_1650delCAG||||||INFO_REALIGN_3_PRIME,C|non_coding_exon_variant|MODIFIER|RRP7B|RRP7B|transcript|NR_002184.2|Noncoding|7/7|n.1641_1643delCTG|||||| 22 42981795 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|9/9|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|9/9|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|8/8|c.*2C>T|||||2|,A|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|9/9|n.1362C>T|||||| 22 42981840 . G A . . ANN=A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|9/9|c.1274C>T|p.Ala425Val|1379/3492|1274/1317|425/438||,A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|9/9|c.1223C>T|p.Ala408Val|1328/3441|1223/1266|408/421||,A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|8/8|c.1136C>T|p.Ala379Val|1241/3354|1136/1179|379/392||,A|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|9/9|n.1317C>T|||||| 22 42981860 . T C . . ANN=C|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|9/9|c.1254A>G|p.Ala418Ala|1359/3492|1254/1317|418/438||,C|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|9/9|c.1203A>G|p.Ala401Ala|1308/3441|1203/1266|401/421||,C|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|8/8|c.1116A>G|p.Ala372Ala|1221/3354|1116/1179|372/392||,C|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|9/9|n.1297A>G|||||| 22 42981890 . G A . . ANN=A|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|9/9|c.1224C>T|p.Ala408Ala|1329/3492|1224/1317|408/438||,A|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|9/9|c.1173C>T|p.Ala391Ala|1278/3441|1173/1266|391/421||,A|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|8/8|c.1086C>T|p.Ala362Ala|1191/3354|1086/1179|362/392||,A|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|9/9|n.1267C>T|||||| 22 42981961 . T A . . ANN=A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|9/9|c.1153A>T|p.Ser385Cys|1258/3492|1153/1317|385/438||,A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|9/9|c.1102A>T|p.Ser368Cys|1207/3441|1102/1266|368/421||,A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|8/8|c.1015A>T|p.Ser339Cys|1120/3354|1015/1179|339/392||,A|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|9/9|n.1196A>T|||||| 22 42982018 . C T . . ANN=T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|8/8|c.1140-44G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|8/8|c.1089-44G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|7/7|c.1002-44G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|8/8|n.1183-44G>A|||||| 22 42983467 . A G . . ANN=G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|8/8|c.1139+45T>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|8/8|c.1088+45T>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|7/7|c.1001+45T>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|8/8|n.1182+45T>C|||||| 22 42983472 . C T . . ANN=T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|8/8|c.1139+40G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|8/8|c.1088+40G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|7/7|c.1001+40G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|8/8|n.1182+40G>A|||||| 22 42983560 . T C . . ANN=C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|8/9|c.1091A>G|p.Asn364Ser|1196/3492|1091/1317|364/438||,C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|8/9|c.1040A>G|p.Asn347Ser|1145/3441|1040/1266|347/421||,C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|7/8|c.953A>G|p.Asn318Ser|1058/3354|953/1179|318/392||,C|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|8/9|n.1134A>G|||||| 22 42983620 . C T . . ANN=T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|7/8|c.1073-42G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|7/8|c.1022-42G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|6/7|c.935-42G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|7/8|n.1116-42G>A|||||| 22 42988031 . C T . . ANN=T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|7/9|c.1002G>A|p.Ala334Ala|1107/3492|1002/1317|334/438||,T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|7/9|c.951G>A|p.Ala317Ala|1056/3441|951/1266|317/421||,T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|6/8|c.864G>A|p.Ala288Ala|969/3354|864/1179|288/392||,T|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|7/9|n.1045G>A|||||| 22 42988076 . C T . . ANN=T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|7/9|c.957G>A|p.Val319Val|1062/3492|957/1317|319/438||,T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|7/9|c.906G>A|p.Val302Val|1011/3441|906/1266|302/421||,T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|6/8|c.819G>A|p.Val273Val|924/3354|819/1179|273/392||,T|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|7/9|n.1000G>A|||||| 22 42988117 . T C . . ANN=C|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|6/8|c.943-27A>G||||||,C|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|6/8|c.892-27A>G||||||,C|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|5/7|c.805-27A>G||||||,C|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|6/8|n.986-27A>G|||||| 22 42988118 . G C . . ANN=C|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|6/8|c.943-28C>G||||||,C|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|6/8|c.892-28C>G||||||,C|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|5/7|c.805-28C>G||||||,C|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|6/8|n.986-28C>G|||||| 22 42992147 . C T . . ANN=T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|5/8|c.864+45G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|5/8|c.813+45G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|4/7|c.726+45G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|5/8|n.918+45G>A|||||| 22 42992251 . T C . . ANN=C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|5/9|c.805A>G|p.Asn269Asp|910/3492|805/1317|269/438||,C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|5/9|c.754A>G|p.Asn252Asp|859/3441|754/1266|252/421||,C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|4/8|c.667A>G|p.Asn223Asp|772/3354|667/1179|223/392||,C|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|5/9|n.859A>G|||||| 22 42992275 . A C . . ANN=C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|5/9|c.781T>G|p.Ser261Ala|886/3492|781/1317|261/438||,C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|5/9|c.730T>G|p.Ser244Ala|835/3441|730/1266|244/421||,C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|4/8|c.643T>G|p.Ser215Ala|748/3354|643/1179|215/392||,C|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|5/9|n.835T>G|||||| 22 42992355 . GA G . . ANN=G|frameshift_variant|HIGH|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|5/9|c.700delT|p.Ser234fs|805/3492|700/1317|234/438||,G|frameshift_variant|HIGH|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|5/9|c.649delT|p.Ser217fs|754/3441|649/1266|217/421||,G|frameshift_variant|HIGH|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|4/8|c.562delT|p.Ser188fs|667/3354|562/1179|188/392||,G|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|5/9|n.754delT||||||;LOF=(POLDIP3|POLDIP3|4|0.75) 22 42992386 . A G . . ANN=G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|4/8|c.685-15T>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|4/8|c.634-15T>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|3/7|c.547-15T>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|4/8|n.739-15T>C|||||| 22 42992387 . GA G . . ANN=G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|4/8|c.685-17delT||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|4/8|c.634-17delT||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|3/7|c.547-17delT||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|4/8|n.739-17delT|||||| 22 42995674 . C T . . ANN=T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|4/8|c.684+30G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|4/8|c.633+30G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|3/7|c.546+30G>A||||||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|4/8|n.738+30G>A|||||| 22 42995724 . C T . . ANN=T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|4/9|c.664G>A|p.Gly222Ser|769/3492|664/1317|222/438||,T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|4/9|c.613G>A|p.Gly205Ser|718/3441|613/1266|205/421||,T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|3/8|c.526G>A|p.Gly176Ser|631/3354|526/1179|176/392||,T|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|4/9|n.718G>A|||||| 22 42995754 . G C . . ANN=C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|4/9|c.634C>G|p.Pro212Ala|739/3492|634/1317|212/438||,C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|4/9|c.583C>G|p.Pro195Ala|688/3441|583/1266|195/421||,C|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|3/8|c.496C>G|p.Pro166Ala|601/3354|496/1179|166/392||,C|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|4/9|n.688C>G|||||| 22 42997957 . T TCTCA . . ANN=TCTCA|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|3/8|c.588+18_588+19insTGAG||||||,TCTCA|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|3/8|c.537+18_537+19insTGAG||||||,TCTCA|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/7|c.450+818_450+819insTGAG||||||,TCTCA|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|3/8|n.642+18_642+19insTGAG|||||| 22 42998007 . A G . . ANN=G|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|3/9|c.557T>C|p.Ile186Thr|662/3492|557/1317|186/438||,G|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|3/9|c.506T>C|p.Ile169Thr|611/3441|506/1266|169/421||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/7|c.450+769T>C||||||,G|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|3/9|n.611T>C|||||| 22 42998030 . A G . . ANN=G|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|3/9|c.534T>C|p.His178His|639/3492|534/1317|178/438||,G|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|3/9|c.483T>C|p.His161His|588/3441|483/1266|161/421||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/7|c.450+746T>C||||||,G|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|3/9|n.588T>C|||||| 22 42998054 . C T . . ANN=T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|3/9|c.510G>A|p.Gln170Gln|615/3492|510/1317|170/438||,T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|3/9|c.459G>A|p.Gln153Gln|564/3441|459/1266|153/421||,T|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/7|c.450+722G>A||||||,T|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|3/9|n.564G>A|||||| 22 42998731 . T G . . ANN=G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|2/8|c.450+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|2/8|c.450+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/7|c.450+45A>C||||||,G|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|2/8|n.555+45A>C|||||| 22 42998740 . G A . . ANN=A|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|2/8|c.450+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|2/8|c.450+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/7|c.450+36C>T||||||,A|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|2/8|n.555+36C>T|||||| 22 42998759 . C CA . . ANN=CA|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|2/8|c.450+16_450+17insT||||||,CA|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|2/8|c.450+16_450+17insT||||||,CA|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/7|c.450+16_450+17insT||||||,CA|intron_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|2/8|n.555+16_555+17insT|||||| 22 42998846 . G A . . ANN=A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|2/9|c.380C>T|p.Ser127Phe|485/3492|380/1317|127/438||,A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|2/9|c.380C>T|p.Ser127Phe|485/3441|380/1266|127/421||,A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/8|c.380C>T|p.Ser127Phe|485/3354|380/1179|127/392||,A|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|2/9|n.485C>T|||||| 22 42998902 . G T . . ANN=T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|2/9|c.324C>A|p.Pro108Pro|429/3492|324/1317|108/438||,T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|2/9|c.324C>A|p.Pro108Pro|429/3441|324/1266|108/421||,T|synonymous_variant|LOW|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/8|c.324C>A|p.Pro108Pro|429/3354|324/1179|108/392||,T|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|2/9|n.429C>A|||||| 22 42999138 . C T . . ANN=T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|2/9|c.88G>A|p.Val30Ile|193/3492|88/1317|30/438||,T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|2/9|c.88G>A|p.Val30Ile|193/3441|88/1266|30/421||,T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|2/8|c.88G>A|p.Val30Ile|193/3354|88/1179|30/392||,T|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|2/9|n.193G>A|||||| 22 43010817 . G A . . ANN=A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|1/9|c.47C>T|p.Ala16Val|152/3492|47/1317|16/438||,A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|1/9|c.47C>T|p.Ala16Val|152/3441|47/1266|16/421||,A|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|1/8|c.47C>T|p.Ala16Val|152/3354|47/1179|16/392||,A|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|1/9|n.152C>T|||||| 22 43010821 . C T . . ANN=T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|1/9|c.43G>A|p.Ala15Thr|148/3492|43/1317|15/438||,T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|1/9|c.43G>A|p.Ala15Thr|148/3441|43/1266|15/421||,T|missense_variant|MODERATE|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|1/8|c.43G>A|p.Ala15Thr|148/3354|43/1179|15/392||,T|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|1/9|n.148G>A|||||| 22 43010889 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|1/9|c.-26G>A|||||26|,T|5_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|1/9|c.-26G>A|||||26|,T|5_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|1/8|c.-26G>A|||||26|,T|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|1/9|n.80G>A|||||| 22 43010909 . C A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|1/9|c.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|1/9|c.-46G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|1/8|c.-46G>T||||||,A|5_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_001278657.1|Coding|1/9|c.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_032311.4|Coding|1/9|c.-46G>T|||||46|,A|5_prime_UTR_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NM_178136.2|Coding|1/8|c.-46G>T|||||46|,A|non_coding_exon_variant|MODIFIER|POLDIP3|POLDIP3|transcript|NR_103820.1|Noncoding|1/9|n.60G>T|||||| 22 43015787 . C T . . ANN=T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|9/9|c.997G>A|p.Val333Ile|1122/3063|997/1005|333/334||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|9/9|c.829G>A|p.Val277Ile|1226/3167|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|10/10|c.829G>A|p.Val277Ile|1042/2983|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|9/9|c.829G>A|p.Val277Ile|981/2922|829/837|277/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|9/9|c.898G>A|p.Val300Ile|982/2923|898/906|300/301|| 22 43015795 . C T . . ANN=T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|9/9|c.989G>A|p.Arg330His|1114/3063|989/1005|330/334||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|9/9|c.821G>A|p.Arg274His|1218/3167|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|10/10|c.821G>A|p.Arg274His|1034/2983|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|9/9|c.821G>A|p.Arg274His|973/2922|821/837|274/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|9/9|c.890G>A|p.Arg297His|974/2923|890/906|297/301|| 22 43015977 . T G . . ANN=G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|8/8|c.833-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|8/8|c.665-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|9/9|c.665-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|8/8|c.665-26A>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|8/8|c.734-26A>C|||||| 22 43019769 . C T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|8/8|c.832+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|8/8|c.664+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|9/9|c.664+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|8/8|c.664+26G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|8/8|c.733+26G>A|||||| 22 43019817 . GTACCAGAGCTTGAAGCGTGCA G . . ANN=G|disruptive_inframe_deletion|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|8/9|c.789_809delTGCACGCTTCAAGCTCTGGTA|p.Ala264_Tyr270del|934/3063|789/1005|263/334||,G|disruptive_inframe_deletion|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|8/9|c.621_641delTGCACGCTTCAAGCTCTGGTA|p.Ala208_Tyr214del|1038/3167|621/837|207/278||,G|disruptive_inframe_deletion|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|9/10|c.621_641delTGCACGCTTCAAGCTCTGGTA|p.Ala208_Tyr214del|854/2983|621/837|207/278||,G|disruptive_inframe_deletion|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|8/9|c.621_641delTGCACGCTTCAAGCTCTGGTA|p.Ala208_Tyr214del|793/2922|621/837|207/278||,G|disruptive_inframe_deletion|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|8/9|c.690_710delTGCACGCTTCAAGCTCTGGTA|p.Ala231_Tyr237del|794/2923|690/906|230/301|| 22 43019826 . C T . . ANN=T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|8/9|c.801G>A|p.Lys267Lys|926/3063|801/1005|267/334||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|8/9|c.633G>A|p.Lys211Lys|1030/3167|633/837|211/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|9/10|c.633G>A|p.Lys211Lys|846/2983|633/837|211/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|8/9|c.633G>A|p.Lys211Lys|785/2922|633/837|211/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|8/9|c.702G>A|p.Lys234Lys|786/2923|702/906|234/301|| 22 43019843 . G A . . ANN=A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|8/9|c.784C>T|p.His262Tyr|909/3063|784/1005|262/334||,A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|8/9|c.616C>T|p.His206Tyr|1013/3167|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|9/10|c.616C>T|p.His206Tyr|829/2983|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|8/9|c.616C>T|p.His206Tyr|768/2922|616/837|206/278||,A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|8/9|c.685C>T|p.His229Tyr|769/2923|685/906|229/301|| 22 43019943 . C G . . ANN=G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|7/8|c.733-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|7/8|c.565-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|8/9|c.565-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|7/8|c.565-49G>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|7/8|c.634-49G>C|||||| 22 43023263 . C T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|7/8|c.732+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|7/8|c.564+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|8/9|c.564+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|7/8|c.564+47G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|7/8|c.633+47G>A|||||| 22 43023295 . G A . . ANN=A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|7/8|c.732+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|7/8|c.564+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|8/9|c.564+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|7/8|c.564+15C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|7/8|c.633+15C>T|||||| 22 43023368 . C T . . ANN=T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|7/9|c.674G>A|p.Arg225His|799/3063|674/1005|225/334||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|7/9|c.506G>A|p.Arg169His|903/3167|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|8/10|c.506G>A|p.Arg169His|719/2983|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|7/9|c.506G>A|p.Arg169His|658/2922|506/837|169/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|7/9|c.575G>A|p.Arg192His|659/2923|575/906|192/301|| 22 43023409 . G C . . ANN=C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/8|c.647-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/8|c.479-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/9|c.479-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/8|c.479-14C>G||||||,C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/8|c.548-14C>G|||||| 22 43023429 . G C . . ANN=C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/8|c.647-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/8|c.479-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/9|c.479-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/8|c.479-34C>G||||||,C|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/8|c.548-34C>G|||||| 22 43023432 . C T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/8|c.647-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/8|c.479-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/9|c.479-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/8|c.479-37G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/8|c.548-37G>A|||||| 22 43023563 . C T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/8|c.646+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/8|c.478+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/9|c.478+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/8|c.478+48G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/8|c.547+48G>A|||||| 22 43023579 . C T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/8|c.646+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/8|c.478+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/9|c.478+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/8|c.478+32G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/8|c.547+32G>A|||||| 22 43023586 . C G . . ANN=G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/8|c.646+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/8|c.478+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/9|c.478+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/8|c.478+25G>C||||||,G|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/8|c.547+25G>C|||||| 22 43023599 . G T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/8|c.646+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/8|c.478+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/9|c.478+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/8|c.478+12C>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/8|c.547+12C>A|||||| 22 43023621 . C T . . ANN=T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/9|c.636G>A|p.Ala212Ala|761/3063|636/1005|212/334||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/9|c.468G>A|p.Ala156Ala|865/3167|468/837|156/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/10|c.468G>A|p.Ala156Ala|681/2983|468/837|156/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/9|c.468G>A|p.Ala156Ala|620/2922|468/837|156/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/9|c.537G>A|p.Ala179Ala|621/2923|537/906|179/301|| 22 43023622 . G A . . ANN=A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/9|c.635C>T|p.Ala212Val|760/3063|635/1005|212/334||,A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/9|c.467C>T|p.Ala156Val|864/3167|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/10|c.467C>T|p.Ala156Val|680/2983|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/9|c.467C>T|p.Ala156Val|619/2922|467/837|156/278||,A|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/9|c.536C>T|p.Ala179Val|620/2923|536/906|179/301|| 22 43023687 . G A . . ANN=A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|6/9|c.570C>T|p.Phe190Phe|695/3063|570/1005|190/334||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|6/9|c.402C>T|p.Phe134Phe|799/3167|402/837|134/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|7/10|c.402C>T|p.Phe134Phe|615/2983|402/837|134/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|6/9|c.402C>T|p.Phe134Phe|554/2922|402/837|134/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|6/9|c.471C>T|p.Phe157Phe|555/2923|471/906|157/301|| 22 43024119 . G A . . ANN=A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|5/8|c.562+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|5/8|c.394+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|6/9|c.394+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|5/8|c.394+39C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|5/8|c.463+39C>T|||||| 22 43024145 . C T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|5/8|c.562+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|5/8|c.394+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|6/9|c.394+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|5/8|c.394+13G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|5/8|c.463+13G>A|||||| 22 43024189 . G A . . ANN=A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|5/9|c.531C>T|p.Gly177Gly|656/3063|531/1005|177/334||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|5/9|c.363C>T|p.Gly121Gly|760/3167|363/837|121/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|6/10|c.363C>T|p.Gly121Gly|576/2983|363/837|121/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|5/9|c.363C>T|p.Gly121Gly|515/2922|363/837|121/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|5/9|c.432C>T|p.Gly144Gly|516/2923|432/906|144/301|| 22 43024214 . A G . . ANN=G|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|5/9|c.506T>C|p.Ile169Thr|631/3063|506/1005|169/334||,G|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|5/9|c.338T>C|p.Ile113Thr|735/3167|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|6/10|c.338T>C|p.Ile113Thr|551/2983|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|5/9|c.338T>C|p.Ile113Thr|490/2922|338/837|113/278||,G|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|5/9|c.407T>C|p.Ile136Thr|491/2923|407/906|136/301|| 22 43024271 . G C . . ANN=C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|5/9|c.449C>G|p.Thr150Ser|574/3063|449/1005|150/334||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|5/9|c.281C>G|p.Thr94Ser|678/3167|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|6/10|c.281C>G|p.Thr94Ser|494/2983|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|5/9|c.281C>G|p.Thr94Ser|433/2922|281/837|94/278||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|5/9|c.350C>G|p.Thr117Ser|434/2923|350/906|117/301|| 22 43024318 . C T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|4/8|c.433-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|4/8|c.265-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|5/9|c.265-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|4/8|c.265-31G>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|4/8|c.334-31G>A|||||| 22 43026905 . C T . . ANN=T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|4/9|c.415G>A|p.Val139Met|540/3063|415/1005|139/334||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|4/9|c.247G>A|p.Val83Met|644/3167|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|5/10|c.247G>A|p.Val83Met|460/2983|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|4/9|c.247G>A|p.Val83Met|399/2922|247/837|83/278||,T|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|4/9|c.316G>A|p.Val106Met|400/2923|316/906|106/301|| 22 43026908 . A C . . ANN=C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|4/9|c.412T>G|p.Phe138Val|537/3063|412/1005|138/334||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|4/9|c.244T>G|p.Phe82Val|641/3167|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|5/10|c.244T>G|p.Phe82Val|457/2983|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|4/9|c.244T>G|p.Phe82Val|396/2922|244/837|82/278||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|4/9|c.313T>G|p.Phe105Val|397/2923|313/906|105/301|| 22 43026924 . G A . . ANN=A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|4/9|c.396C>T|p.Ser132Ser|521/3063|396/1005|132/334||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|4/9|c.228C>T|p.Ser76Ser|625/3167|228/837|76/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|5/10|c.228C>T|p.Ser76Ser|441/2983|228/837|76/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|4/9|c.228C>T|p.Ser76Ser|380/2922|228/837|76/278||,A|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|4/9|c.297C>T|p.Ser99Ser|381/2923|297/906|99/301|| 22 43027000 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|3/8|c.326-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|3/8|c.158-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|4/9|c.158-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|3/8|c.158-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|3/8|c.227-6C>T|||||| 22 43027356 . G A . . ANN=A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|3/8|c.325+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|3/8|c.157+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|4/9|c.157+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|3/8|c.157+28C>T||||||,A|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|3/8|c.226+28C>T|||||| 22 43032742 . C T . . ANN=T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|2/9|c.231G>A|p.Pro77Pro|356/3063|231/1005|77/334||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|2/9|c.63G>A|p.Pro21Pro|460/3167|63/837|21/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|3/10|c.63G>A|p.Pro21Pro|276/2983|63/837|21/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|2/9|c.63G>A|p.Pro21Pro|215/2922|63/837|21/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|2/9|c.132G>A|p.Pro44Pro|216/2923|132/906|44/301|| 22 43032757 . C T . . ANN=T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|2/9|c.216G>A|p.Pro72Pro|341/3063|216/1005|72/334||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|2/9|c.48G>A|p.Pro16Pro|445/3167|48/837|16/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|3/10|c.48G>A|p.Pro16Pro|261/2983|48/837|16/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|2/9|c.48G>A|p.Pro16Pro|200/2922|48/837|16/278||,T|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|2/9|c.117G>A|p.Pro39Pro|201/2923|117/906|39/301|| 22 43032829 . T C . . ANN=C|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|2/9|c.144A>G|p.Pro48Pro|269/3063|144/1005|48/334||,C|synonymous_variant|LOW|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|2/9|c.45A>G|p.Pro15Pro|129/2923|45/906|15/301||,C|5_prime_UTR_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|2/9|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|3/10|c.-25A>G|||||25|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|2/9|c.-25A>G|||||25| 22 43032843 . T C . . ANN=C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|2/9|c.130A>G|p.Met44Val|255/3063|130/1005|44/334||,C|missense_variant|MODERATE|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|2/9|c.31A>G|p.Met11Val|115/2923|31/906|11/301||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|2/9|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|3/10|c.-39A>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|2/9|c.-39A>G||||||,C|5_prime_UTR_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|2/9|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|3/10|c.-39A>G|||||39|,C|5_prime_UTR_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|2/9|c.-39A>G|||||39| 22 43032870 . G T . . ANN=T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171660.1|Coding|1/8|c.121-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001129819.2|Coding|1/8|c.-48-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_001171661.1|Coding|2/9|c.-48-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_007326.4|Coding|1/8|c.-48-18C>A||||||,T|intron_variant|MODIFIER|CYB5R3|CYB5R3|transcript|NM_000398.6|Coding|1/8|c.22-18C>A|||||| 22 43088856 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.*40G>A|||||40| 22 43088890 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.*6C>T|||||6| 22 43088902 . G A . . ANN=A|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.1056C>T|p.Tyr352Tyr|1317/2092|1056/1062|352/353|| 22 43088928 . T TG . . ANN=TG|frameshift_variant|HIGH|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.1029dupC|p.Thr344fs|1290/2092|1029/1062|343/353|| 22 43088971 . C T . . ANN=T|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.987G>A|p.Thr329Thr|1248/2092|987/1062|329/353|| 22 43089044 . G A . . ANN=A|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.914C>T|p.Pro305Leu|1175/2092|914/1062|305/353|| 22 43089055 . G C . . ANN=C|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.903C>G|p.Pro301Pro|1164/2092|903/1062|301/353|| 22 43089066 . C A . . ANN=A|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.892G>T|p.Asp298Tyr|1153/2092|892/1062|298/353|| 22 43089109 . G A . . ANN=A|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.849C>T|p.Ala283Ala|1110/2092|849/1062|283/353|| 22 43089281 . C T . . ANN=T|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.677G>A|p.Arg226Gln|938/2092|677/1062|226/353|| 22 43089289 . G A . . ANN=A|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.669C>T|p.Phe223Phe|930/2092|669/1062|223/353|| 22 43089400 . G A . . ANN=A|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.558C>T|p.Phe186Phe|819/2092|558/1062|186/353|| 22 43089464 . C T . . ANN=T|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.494G>A|p.Arg165His|755/2092|494/1062|165/353|| 22 43089470 . T C . . ANN=C|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.488A>G|p.Gln163Arg|749/2092|488/1062|163/353|| 22 43089517 . C T . . ANN=T|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.441G>A|p.Arg147Arg|702/2092|441/1062|147/353|| 22 43089591 . A G . . ANN=G|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.367T>C|p.Ser123Pro|628/2092|367/1062|123/353|| 22 43089658 . C G . . ANN=G|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.300G>C|p.Ser100Ser|561/2092|300/1062|100/353|| 22 43089753 . G A . . ANN=A|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.205C>T|p.Pro69Ser|466/2092|205/1062|69/353|| 22 43089757 . G C . . ANN=C|synonymous_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.201C>G|p.Pro67Pro|462/2092|201/1062|67/353|| 22 43089849 . T C . . ANN=C|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.109A>G|p.Met37Val|370/2092|109/1062|37/353|| 22 43089858 . C T . . ANN=T|missense_variant|MODERATE|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.100G>A|p.Val34Ile|361/2092|100/1062|34/353|| 22 43089997 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.-40C>T||||||,A|5_prime_UTR_variant|MODIFIER|A4GALT|A4GALT|transcript|NM_017436.4|Coding|3/3|c.-40C>T|||||40| 22 43193576 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|16/16|c.*18G>A|||||18|,T|3_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|15/15|c.*18G>A|||||18| 22 43193579 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|16/16|c.*15T>C|||||15|,G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|15/15|c.*15T>C|||||15| 22 43193590 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|16/16|c.*4T>C|||||4|,G|3_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|15/15|c.*4T>C|||||4| 22 43193603 . G A . . ANN=A|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|16/16|c.1542C>T|p.Tyr514Tyr|1762/2833|1542/1551|514/516||,A|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|15/15|c.1410C>T|p.Tyr470Tyr|1630/2701|1410/1419|470/472|| 22 43193641 . G A . . ANN=A|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|15/15|c.1534-30C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|14/14|c.1402-30C>T|||||| 22 43195109 . T C . . ANN=C|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|15/16|c.1469A>G|p.Gln490Arg|1689/2833|1469/1551|490/516||,C|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|14/15|c.1337A>G|p.Gln446Arg|1557/2701|1337/1419|446/472|| 22 43195114 . G C . . ANN=C|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|15/16|c.1464C>G|p.Phe488Leu|1684/2833|1464/1551|488/516||,C|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|14/15|c.1332C>G|p.Phe444Leu|1552/2701|1332/1419|444/472|| 22 43195134 . C T . . ANN=T|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|15/16|c.1444G>A|p.Ala482Thr|1664/2833|1444/1551|482/516||,T|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|14/15|c.1312G>A|p.Ala438Thr|1532/2701|1312/1419|438/472|| 22 43195147 . A G . . ANN=G|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|15/16|c.1431T>C|p.Ser477Ser|1651/2833|1431/1551|477/516||,G|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|14/15|c.1299T>C|p.Ser433Ser|1519/2701|1299/1419|433/472|| 22 43195164 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|15/16|c.1414A>G|p.Asn472Asp|1634/2833|1414/1551|472/516||,C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|14/15|c.1282A>G|p.Asn428Asp|1502/2701|1282/1419|428/472|| 22 43195172 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|14/15|c.1412-6G>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|13/14|c.1280-6G>A|||||| 22 43195179 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|14/15|c.1412-13T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|13/14|c.1280-13T>C|||||| 22 43195194 . A T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|14/15|c.1412-28T>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|13/14|c.1280-28T>A|||||| 22 43203086 . C A . . ANN=A|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|14/16|c.1404G>T|p.Gln468His|1624/2833|1404/1551|468/516||,A|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|13/15|c.1272G>T|p.Gln424His|1492/2701|1272/1419|424/472|| 22 43203137 . C T . . ANN=T|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|14/16|c.1353G>A|p.Ser451Ser|1573/2833|1353/1551|451/516||,T|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|13/15|c.1221G>A|p.Ser407Ser|1441/2701|1221/1419|407/472|| 22 43203210 . T C . . ANN=C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|13/15|c.1321-41A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|12/14|c.1189-41A>G|||||| 22 43204800 . C T . . ANN=T|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|13/16|c.1293G>A|p.Met431Ile|1513/2833|1293/1551|431/516||,T|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|12/15|c.1161G>A|p.Met387Ile|1381/2701|1161/1419|387/472|| 22 43204801 . A G . . ANN=G|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|13/16|c.1292T>C|p.Met431Thr|1512/2833|1292/1551|431/516||,G|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|12/15|c.1160T>C|p.Met387Thr|1380/2701|1160/1419|387/472|| 22 43204809 . T C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|13/16|c.1284A>G|p.Ser428Ser|1504/2833|1284/1551|428/516||,C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|12/15|c.1152A>G|p.Ser384Ser|1372/2701|1152/1419|384/472|| 22 43204882 . C T . . ANN=T|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|13/16|c.1211G>A|p.Arg404His|1431/2833|1211/1551|404/516||,T|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|12/15|c.1079G>A|p.Arg360His|1299/2701|1079/1419|360/472|| 22 43206775 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|12/15|c.1196+44T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|11/14|c.1064+44T>C|||||| 22 43206781 . G T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|12/15|c.1196+38C>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|11/14|c.1064+38C>A|||||| 22 43206882 . T C . . ANN=C|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|12/16|c.1133A>G|p.Tyr378Cys|1353/2833|1133/1551|378/516||,C|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|11/15|c.1001A>G|p.Tyr334Cys|1221/2701|1001/1419|334/472|| 22 43206950 . A C . . ANN=C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|12/16|c.1065T>G|p.Ser355Arg|1285/2833|1065/1551|355/516||,C|missense_variant&splice_region_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|11/15|c.933T>G|p.Ser311Arg|1153/2701|933/1419|311/472|| 22 43213215 . T G . . ANN=G|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|11/16|c.997A>C|p.Ile333Leu|1217/2833|997/1551|333/516||,G|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|10/15|c.865A>C|p.Ile289Leu|1085/2701|865/1419|289/472|| 22 43213217 . G A . . ANN=A|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|11/16|c.995C>T|p.Pro332Leu|1215/2833|995/1551|332/516||,A|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|10/15|c.863C>T|p.Pro288Leu|1083/2701|863/1419|288/472|| 22 43213262 . G A . . ANN=A|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|11/16|c.950C>T|p.Ser317Leu|1170/2833|950/1551|317/516||,A|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|10/15|c.818C>T|p.Ser273Leu|1038/2701|818/1419|273/472|| 22 43213266 . T A . . ANN=A|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|11/16|c.946A>T|p.Ile316Phe|1166/2833|946/1551|316/516||,A|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|10/15|c.814A>T|p.Ile272Phe|1034/2701|814/1419|272/472|| 22 43213278 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|10/15|c.942-8T>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|9/14|c.810-8T>A|||||| 22 43213761 . G A . . ANN=A|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|10/16|c.915C>T|p.Leu305Leu|1135/2833|915/1551|305/516||,A|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|9/15|c.783C>T|p.Leu261Leu|1003/2701|783/1419|261/472|| 22 43218227 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|9/15|c.812+49T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|8/14|c.680+49T>C|||||| 22 43218254 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|9/15|c.812+22T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|8/14|c.680+22T>C|||||| 22 43218397 . T C . . ANN=C|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|9/16|c.691A>G|p.Ser231Gly|911/2833|691/1551|231/516||,C|missense_variant|MODERATE|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|8/15|c.559A>G|p.Ser187Gly|779/2701|559/1419|187/472|| 22 43218435 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|8/15|c.673-20T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|7/14|c.541-20T>C|||||| 22 43218446 . G A . . ANN=A|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|8/15|c.673-31C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|7/14|c.541-31C>T|||||| 22 43218463 . C T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|8/15|c.673-48G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|7/14|c.541-48G>A|||||| 22 43219712 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|7/15|c.626-4G>A||||||,T|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|6/14|c.494-4G>A|||||| 22 43222925 . G A . . ANN=A|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|7/15|c.625+21C>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|6/14|c.493+21C>T|||||| 22 43222927 . A G . . ANN=G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|7/15|c.625+19T>C||||||,G|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|6/14|c.493+19T>C|||||| 22 43223032 . C T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|6/15|c.566-27G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|5/14|c.434-27G>A|||||| 22 43227519 . T C . . ANN=C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|6/15|c.565+36A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|5/14|c.433+36A>G|||||| 22 43227524 . T C . . ANN=C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|6/15|c.565+31A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|5/14|c.433+31A>G|||||| 22 43227529 . T C . . ANN=C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|6/15|c.565+26A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|5/14|c.433+26A>G|||||| 22 43227577 . T C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|6/16|c.543A>G|p.Glu181Glu|763/2833|543/1551|181/516||,C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|5/15|c.411A>G|p.Glu137Glu|631/2701|411/1419|137/472|| 22 43227592 . T C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|6/16|c.528A>G|p.Thr176Thr|748/2833|528/1551|176/516||,C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|5/15|c.396A>G|p.Thr132Thr|616/2701|396/1419|132/472|| 22 43227654 . C T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|5/15|c.478-12G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|4/14|c.346-12G>A|||||| 22 43230224 . AATGATGTGAAGCATAAT A . . ANN=A|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|5/15|c.477+7_477+23delATTATGCTTCACATCAT||||||,A|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|4/14|c.345+7_345+23delATTATGCTTCACATCAT|||||| 22 43230229 . T C . . ANN=C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|5/15|c.477+19A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|4/14|c.345+19A>G|||||| 22 43230266 . G A . . ANN=A|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|5/16|c.459C>T|p.Ala153Ala|679/2833|459/1551|153/516||,A|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|4/15|c.327C>T|p.Ala109Ala|547/2701|327/1419|109/472|| 22 43230278 . T C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|5/16|c.447A>G|p.Glu149Glu|667/2833|447/1551|149/516||,C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|4/15|c.315A>G|p.Glu105Glu|535/2701|315/1419|105/472|| 22 43231360 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|4/15|c.393+8A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|3/14|c.262-1029A>G|||||| 22 43231515 . T C . . ANN=C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|3/15|c.262-16A>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|3/14|c.262-1184A>G|||||| 22 43231532 . G C . . ANN=C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|3/15|c.262-33C>G||||||,C|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|3/14|c.262-1201C>G|||||| 22 43231541 . C T . . ANN=T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|3/15|c.262-42G>A||||||,T|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|3/14|c.262-1210G>A|||||| 22 43237072 . C A . . ANN=A|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|2/15|c.189-50G>T||||||,A|intron_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|2/14|c.189-50G>T|||||| 22 43243552 . G A . . ANN=A|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|2/16|c.156C>T|p.His52His|376/2833|156/1551|52/516||,A|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|2/15|c.156C>T|p.His52His|376/2701|156/1419|52/472|| 22 43253126 . A C . . ANN=C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|1/16|c.63T>G|p.Thr21Thr|283/2833|63/1551|21/516||,C|synonymous_variant|LOW|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|1/15|c.63T>G|p.Thr21Thr|283/2701|63/1419|21/472|| 22 43253204 . G A,C,T . . ANN=A|5_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|1/16|c.-16C>T|||||16|,C|5_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|1/16|c.-16C>G|||||16|,T|5_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_014570.4|Coding|1/16|c.-16C>A|||||16|,A|5_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|1/15|c.-16C>T|||||16|,C|5_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|1/15|c.-16C>G|||||16|,T|5_prime_UTR_variant|MODIFIER|ARFGAP3|ARFGAP3|transcript|NM_001142293.1|Coding|1/15|c.-16C>A|||||16| 22 43267326 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|11/11|c.*37C>T|||||37|,A|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|11/11|c.*37C>T|||||37|,A|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|10/10|c.*37C>T|||||37| 22 43267328 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|11/11|c.*35G>A|||||35|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|11/11|c.*35G>A|||||35|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|10/10|c.*35G>A|||||35| 22 43267336 . T TC . . ANN=TC|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|11/11|c.*26dupG|||||26|,TC|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|11/11|c.*26dupG|||||26|,TC|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|10/10|c.*26dupG|||||26| 22 43267356 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|11/11|c.*7G>A|||||7|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|11/11|c.*7G>A|||||7|,T|3_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|10/10|c.*7G>A|||||7| 22 43267405 . T C . . ANN=C|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|11/11|c.1419A>G|p.Gln473Gln|1654/3287|1419/1461|473/486||,C|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|11/11|c.1419A>G|p.Gln473Gln|1641/3274|1419/1461|473/486||,C|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|10/10|c.1296A>G|p.Gln432Gln|1456/3089|1296/1338|432/445|| 22 43267515 . A G . . ANN=G|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|10/10|c.1349-40T>C||||||,G|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|10/10|c.1349-40T>C||||||,G|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|9/9|c.1226-40T>C|||||| 22 43267522 . C T . . ANN=T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|10/10|c.1349-47G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|10/10|c.1349-47G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|9/9|c.1226-47G>A|||||| 22 43272108 . C A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|10/10|c.1348+35G>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|10/10|c.1348+35G>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|9/9|c.1225+35G>T|||||| 22 43272116 . C T . . ANN=T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|10/10|c.1348+27G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|10/10|c.1348+27G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|9/9|c.1225+27G>A|||||| 22 43272195 . C G . . ANN=G|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|10/11|c.1296G>C|p.Arg432Arg|1531/3287|1296/1461|432/486||,G|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|10/11|c.1296G>C|p.Arg432Arg|1518/3274|1296/1461|432/486||,G|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|9/10|c.1173G>C|p.Arg391Arg|1333/3089|1173/1338|391/445|| 22 43272283 . G A . . ANN=A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|10/11|c.1208C>T|p.Ser403Phe|1443/3287|1208/1461|403/486||,A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|10/11|c.1208C>T|p.Ser403Phe|1430/3274|1208/1461|403/486||,A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|9/10|c.1085C>T|p.Ser362Phe|1245/3089|1085/1338|362/445|| 22 43272291 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|10/11|c.1200C>T|p.Asp400Asp|1435/3287|1200/1461|400/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|10/11|c.1200C>T|p.Asp400Asp|1422/3274|1200/1461|400/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|9/10|c.1077C>T|p.Asp359Asp|1237/3089|1077/1338|359/445|| 22 43272384 . G A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|9/10|c.1152-45C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|9/10|c.1152-45C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/9|c.1029-45C>T|||||| 22 43272854 . G C . . ANN=C|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|9/10|c.1151+40C>G||||||,C|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|9/10|c.1151+40C>G||||||,C|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/9|c.1029-515C>G|||||| 22 43272856 . G A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|9/10|c.1151+38C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|9/10|c.1151+38C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/9|c.1029-517C>T|||||| 22 43272982 . C T . . ANN=T|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|9/11|c.1063G>A|p.Ala355Thr|1298/3287|1063/1461|355/486||,T|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|9/11|c.1063G>A|p.Ala355Thr|1285/3274|1063/1461|355/486||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/9|c.1029-643G>A|||||| 22 43273063 . C A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|8/10|c.1029-47G>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|8/10|c.1029-47G>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/9|c.1029-724G>T|||||| 22 43275010 . C T . . ANN=T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|8/10|c.1028+44G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|8/10|c.1028+44G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/9|c.1028+44G>A|||||| 22 43275082 . C T . . ANN=T|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|8/11|c.1000G>A|p.Asp334Asn|1235/3287|1000/1461|334/486||,T|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|8/11|c.1000G>A|p.Asp334Asn|1222/3274|1000/1461|334/486||,T|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/10|c.1000G>A|p.Asp334Asn|1160/3089|1000/1338|334/445|| 22 43275083 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|8/11|c.999C>T|p.Gly333Gly|1234/3287|999/1461|333/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|8/11|c.999C>T|p.Gly333Gly|1221/3274|999/1461|333/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/10|c.999C>T|p.Gly333Gly|1159/3089|999/1338|333/445|| 22 43275113 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|8/11|c.969C>T|p.Gly323Gly|1204/3287|969/1461|323/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|8/11|c.969C>T|p.Gly323Gly|1191/3274|969/1461|323/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|8/10|c.969C>T|p.Gly323Gly|1129/3089|969/1338|323/445|| 22 43278148 . C T . . ANN=T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|7/10|c.906+42G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|7/10|c.906+42G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|7/9|c.906+42G>A|||||| 22 43278162 . T C . . ANN=C|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|7/10|c.906+28A>G||||||,C|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|7/10|c.906+28A>G||||||,C|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|7/9|c.906+28A>G|||||| 22 43278180 . C T . . ANN=T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|7/10|c.906+10G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|7/10|c.906+10G>A||||||,T|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|7/9|c.906+10G>A|||||| 22 43278220 . C T . . ANN=T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|7/11|c.876G>A|p.Pro292Pro|1111/3287|876/1461|292/486||,T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|7/11|c.876G>A|p.Pro292Pro|1098/3274|876/1461|292/486||,T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|7/10|c.876G>A|p.Pro292Pro|1036/3089|876/1338|292/445|| 22 43278230 . T C . . ANN=C|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|7/11|c.866A>G|p.Asn289Ser|1101/3287|866/1461|289/486||,C|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|7/11|c.866A>G|p.Asn289Ser|1088/3274|866/1461|289/486||,C|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|7/10|c.866A>G|p.Asn289Ser|1026/3089|866/1338|289/445|| 22 43280363 . G A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|6/10|c.785+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|6/10|c.785+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|6/9|c.785+29C>T|||||| 22 43280466 . C T . . ANN=T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|6/11|c.711G>A|p.Glu237Glu|946/3287|711/1461|237/486||,T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|6/11|c.711G>A|p.Glu237Glu|933/3274|711/1461|237/486||,T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|6/10|c.711G>A|p.Glu237Glu|871/3089|711/1338|237/445|| 22 43284643 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|5/10|c.609+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|5/10|c.609+6C>T||||||,A|splice_region_variant&intron_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|5/9|c.609+6C>T|||||| 22 43284734 . T C . . ANN=C|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|5/11|c.524A>G|p.Asn175Ser|759/3287|524/1461|175/486||,C|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|5/11|c.524A>G|p.Asn175Ser|746/3274|524/1461|175/486||,C|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|5/10|c.524A>G|p.Asn175Ser|684/3089|524/1338|175/445|| 22 43284802 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|5/11|c.456A>G|p.Val152Val|691/3287|456/1461|152/486||,C|splice_region_variant&synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|5/11|c.456A>G|p.Val152Val|678/3274|456/1461|152/486||,C|splice_region_variant&synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|5/10|c.456A>G|p.Val152Val|616/3089|456/1338|152/445|| 22 43286904 . G A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|4/10|c.453+49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|4/10|c.453+49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|4/9|c.453+49C>T|||||| 22 43286924 . G A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|4/10|c.453+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|4/10|c.453+29C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|4/9|c.453+29C>T|||||| 22 43287108 . C A,T . . ANN=A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|4/11|c.298G>T|p.Val100Leu|533/3287|298/1461|100/486||,T|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|4/11|c.298G>A|p.Val100Met|533/3287|298/1461|100/486||,A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|4/11|c.298G>T|p.Val100Leu|520/3274|298/1461|100/486||,T|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|4/11|c.298G>A|p.Val100Met|520/3274|298/1461|100/486||,A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|4/10|c.298G>T|p.Val100Leu|458/3089|298/1338|100/445||,T|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|4/10|c.298G>A|p.Val100Met|458/3089|298/1338|100/445|| 22 43287160 . G C . . ANN=C|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|4/11|c.246C>G|p.Ala82Ala|481/3287|246/1461|82/486||,C|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|4/11|c.246C>G|p.Ala82Ala|468/3274|246/1461|82/486||,C|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|4/10|c.246C>G|p.Ala82Ala|406/3089|246/1338|82/445|| 22 43287173 . G A . . ANN=A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|4/11|c.233C>T|p.Thr78Ile|468/3287|233/1461|78/486||,A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|4/11|c.233C>T|p.Thr78Ile|455/3274|233/1461|78/486||,A|missense_variant|MODERATE|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|4/10|c.233C>T|p.Thr78Ile|393/3089|233/1338|78/445|| 22 43287237 . G A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|3/10|c.218-49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|3/10|c.218-49C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|3/9|c.218-49C>T|||||| 22 43289453 . G A . . ANN=A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|3/10|c.217+10C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|3/10|c.217+10C>T||||||,A|intron_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|3/9|c.217+10C>T|||||| 22 43289473 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|3/11|c.207C>T|p.Leu69Leu|442/3287|207/1461|69/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|3/11|c.207C>T|p.Leu69Leu|429/3274|207/1461|69/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|3/10|c.207C>T|p.Leu69Leu|367/3089|207/1338|69/445|| 22 43289518 . C T . . ANN=T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|3/11|c.162G>A|p.Ala54Ala|397/3287|162/1461|54/486||,T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|3/11|c.162G>A|p.Ala54Ala|384/3274|162/1461|54/486||,T|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|3/10|c.162G>A|p.Ala54Ala|322/3089|162/1338|54/445|| 22 43308063 . G A . . ANN=A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|2/11|c.24C>T|p.Ser8Ser|259/3287|24/1461|8/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|2/11|c.24C>T|p.Ser8Ser|246/3274|24/1461|8/486||,A|synonymous_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|2/10|c.24C>T|p.Ser8Ser|184/3089|24/1338|8/445|| 22 43308084 . C A . . ANN=A|start_lost|HIGH|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|2/11|c.3G>T|p.Met1?|238/3287|3/1461|1/486||,A|start_lost|HIGH|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|2/11|c.3G>T|p.Met1?|225/3274|3/1461|1/486||,A|start_lost|HIGH|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|2/10|c.3G>T|p.Met1?|163/3089|3/1338|1/445||;LOF=(PACSIN2|PACSIN2|3|1.00) 22 43308112 . A C . . ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|2/11|c.-26T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|2/11|c.-26T>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|2/10|c.-26T>G||||||,C|5_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184970.1|Coding|2/11|c.-26T>G|||||26|,C|5_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_007229.3|Coding|2/11|c.-26T>G|||||26|,C|5_prime_UTR_variant|MODIFIER|PACSIN2|PACSIN2|transcript|NM_001184971.1|Coding|2/10|c.-26T>G|||||26| 22 43435812 . C T . . ANN=T|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|11/11|c.1242G>A|p.Ser414Ser|1483/1772|1242/1272|414/423||,T|non_coding_exon_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|1/3|n.1222C>T||||||,T|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|12/12|n.1587G>A|||||| 22 43435821 . C T . . ANN=T|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|11/11|c.1233G>A|p.Ser411Ser|1474/1772|1233/1272|411/423||,T|non_coding_exon_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|1/3|n.1231C>T||||||,T|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|12/12|n.1578G>A|||||| 22 43435875 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|11/11|c.1179C>T|p.Asp393Asp|1420/1772|1179/1272|393/423||,A|non_coding_exon_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|1/3|n.1285G>A||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|12/12|n.1524C>T|||||| 22 43435918 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|10/10|c.1143-7T>C||||||,G|splice_region_variant&intron_variant|LOW|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|11/11|n.1488-7T>C||||||,G|non_coding_exon_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|1/3|n.1328A>G|||||| 22 43442376 . A G . . ANN=G|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1771+5069A>G||||||,G|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|10/10|c.1142+40T>C||||||,G|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|11/11|n.1487+40T>C|||||| 22 43442393 . C T . . ANN=T|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1771+5086C>T||||||,T|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|10/10|c.1142+23G>A||||||,T|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|11/11|n.1487+23G>A|||||| 22 43442542 . T C . . ANN=C|missense_variant|MODERATE|TTLL1|TTLL1|transcript|NM_012263.4|Coding|10/11|c.1016A>G|p.Asn339Ser|1257/1772|1016/1272|339/423||,C|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1771+5235T>C||||||,C|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|11/12|n.1361A>G|||||| 22 43442557 . G A . . ANN=A|missense_variant|MODERATE|TTLL1|TTLL1|transcript|NM_012263.4|Coding|10/11|c.1001C>T|p.Thr334Met|1242/1772|1001/1272|334/423||,A|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1771+5250G>A||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|11/12|n.1346C>T|||||| 22 43442599 . T C . . ANN=C|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1771+5292T>C||||||,C|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|9/10|c.979-20A>G||||||,C|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|10/11|n.1324-20A>G|||||| 22 43442609 . C G . . ANN=G|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1771+5302C>G||||||,G|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|9/10|c.979-30G>C||||||,G|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|10/11|n.1324-30G>C|||||| 22 43442620 . G A . . ANN=A|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1771+5313G>A||||||,A|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|9/10|c.979-41C>T||||||,A|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|10/11|n.1324-41C>T|||||| 22 43447827 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|9/11|c.958C>T|p.Leu320Leu|1199/1772|958/1272|320/423||,A|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1772-234G>A||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|10/12|n.1303C>T|||||| 22 43447870 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|9/11|c.915C>T|p.His305His|1156/1772|915/1272|305/423||,A|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1772-191G>A||||||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|10/12|n.1260C>T|||||| 22 43447891 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|9/11|c.894G>A|p.Pro298Pro|1135/1772|894/1272|298/423||,T|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|10/12|n.1239G>A||||||,T|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1772-170C>T|||||| 22 43447939 . C T . . ANN=T|intron_variant|MODIFIER|LOC100506679|LOC100506679|transcript|NR_125362.1|Noncoding|2/2|n.1772-122C>T||||||,T|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|8/10|c.892-46G>A||||||,T|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|9/11|n.1237-46G>A|||||| 22 43455432 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|8/11|c.849C>T|p.Asp283Asp|1090/1772|849/1272|283/423||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|9/12|n.1194C>T|||||| 22 43455457 . T C . . ANN=C|missense_variant|MODERATE|TTLL1|TTLL1|transcript|NM_012263.4|Coding|8/11|c.824A>G|p.Lys275Arg|1065/1772|824/1272|275/423||,C|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|9/12|n.1169A>G|||||| 22 43455531 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|8/11|c.750G>A|p.Glu250Glu|991/1772|750/1272|250/423||,T|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|9/12|n.1095G>A|||||| 22 43455537 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|7/10|c.748-4C>T||||||,A|splice_region_variant&intron_variant|LOW|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|8/11|n.1093-4C>T|||||| 22 43455549 . C T . . ANN=T|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|7/10|c.748-16G>A||||||,T|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|8/11|n.1093-16G>A|||||| 22 43459813 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|7/10|c.747+6T>C||||||,G|splice_region_variant&intron_variant|LOW|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|8/11|n.1092+6T>C|||||| 22 43459846 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|7/11|c.720C>T|p.Leu240Leu|961/1772|720/1272|240/423||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|8/12|n.1065C>T|||||| 22 43459864 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|7/11|c.702C>T|p.Asp234Asp|943/1772|702/1272|234/423||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|8/12|n.1047C>T|||||| 22 43460215 . G A . . ANN=A|missense_variant|MODERATE|TTLL1|TTLL1|transcript|NM_012263.4|Coding|6/11|c.619C>T|p.Arg207Cys|860/1772|619/1272|207/423||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|7/12|n.964C>T|||||| 22 43460324 . C T . . ANN=T|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|6/11|c.510G>A|p.Val170Val|751/1772|510/1272|170/423||,T|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|7/12|n.855G>A|||||| 22 43460379 . C T . . ANN=T|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|5/10|c.504-49G>A||||||,T|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|6/11|n.849-49G>A|||||| 22 43464416 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TTLL1|TTLL1|transcript|NM_012263.4|Coding|5/11|c.503C>T|p.Ser168Leu|744/1772|503/1272|168/423||,A|splice_region_variant&non_coding_exon_variant|LOW|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|6/12|n.848C>T|||||| 22 43464436 . G C . . ANN=C|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|5/11|c.483C>G|p.Ser161Ser|724/1772|483/1272|161/423||,C|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|6/12|n.828C>G|||||| 22 43464544 . C T . . ANN=T|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|5/11|c.375G>A|p.Glu125Glu|616/1772|375/1272|125/423||,T|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|6/12|n.720G>A|||||| 22 43464621 . T G . . ANN=G|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|4/10|c.323-25A>C||||||,G|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|5/11|n.668-25A>C|||||| 22 43465650 . A C . . ANN=C|missense_variant|MODERATE|TTLL1|TTLL1|transcript|NM_012263.4|Coding|4/11|c.314T>G|p.Leu105Arg|555/1772|314/1272|105/423||,C|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|5/12|n.627T>G|||||| 22 43465668 . T A . . ANN=A|missense_variant|MODERATE|TTLL1|TTLL1|transcript|NM_012263.4|Coding|4/11|c.296A>T|p.Asp99Val|537/1772|296/1272|99/423||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|5/12|n.609A>T|||||| 22 43465814 . A G . . ANN=G|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|4/11|c.150T>C|p.Val50Val|391/1772|150/1272|50/423||,G|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|5/12|n.463T>C|||||| 22 43465885 . G C . . ANN=C|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|3/10|c.114-35C>G||||||,C|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|4/11|n.427-35C>G|||||| 22 43465887 . T C . . ANN=C|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|3/10|c.114-37A>G||||||,C|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|4/11|n.427-37A>G|||||| 22 43471437 . G A . . ANN=A|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NM_012263.4|Coding|3/10|c.113+43C>T||||||,A|intron_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|3/11|n.354+43C>T|||||| 22 43471560 . G A . . ANN=A|synonymous_variant|LOW|TTLL1|TTLL1|transcript|NM_012263.4|Coding|3/11|c.33C>T|p.Ile11Ile|274/1772|33/1272|11/423||,A|non_coding_exon_variant|MODIFIER|TTLL1|TTLL1|transcript|NR_027779.1|Noncoding|3/12|n.274C>T|||||| 22 43520017 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|BIK|BIK|transcript|NM_001197.4|Coding|1/4|c.-7-5C>G|||||| 22 43520105 . C T . . ANN=T|missense_variant|MODERATE|BIK|BIK|transcript|NM_001197.4|Coding|2/5|c.77C>T|p.Thr26Ile|140/953|77/483|26/160|| 22 43520205 . C T . . ANN=T|intron_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|2/4|c.161+16C>T|||||| 22 43520218 . T G . . ANN=G|intron_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|2/4|c.161+29T>G|||||| 22 43523668 . C T . . ANN=T|intron_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|2/4|c.162-35C>T|||||| 22 43523766 . G A . . ANN=A|synonymous_variant|LOW|BIK|BIK|transcript|NM_001197.4|Coding|3/5|c.225G>A|p.Pro75Pro|288/953|225/483|75/160|| 22 43524487 . CCT C . . ANN=C|intron_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|3/4|c.261-14_261-13delCT|||||| 22 43524582 . T C . . ANN=C|missense_variant|MODERATE|BIK|BIK|transcript|NM_001197.4|Coding|4/5|c.341T>C|p.Leu114Pro|404/953|341/483|114/160|| 22 43524587 . G A . . ANN=A|missense_variant|MODERATE|BIK|BIK|transcript|NM_001197.4|Coding|4/5|c.346G>A|p.Glu116Lys|409/953|346/483|116/160|| 22 43524613 . C G . . ANN=G|synonymous_variant|LOW|BIK|BIK|transcript|NM_001197.4|Coding|4/5|c.372C>G|p.Ser124Ser|435/953|372/483|124/160|| 22 43524655 . C G . . ANN=G|intron_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|4/4|c.390+24C>G|||||| 22 43524665 . G A . . ANN=A|intron_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|4/4|c.390+34G>A|||||| 22 43525176 . C T . . ANN=T|intron_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|4/4|c.391-43C>T|||||| 22 43525197 . C T . . ANN=T|intron_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|4/4|c.391-22C>T|||||| 22 43525231 . C T . . ANN=T|stop_gained|HIGH|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.403C>T|p.Gln135*|466/953|403/483|135/160|| 22 43525234 . GTGCTGCTGGCGCTGCTGC G . . ANN=|disruptive_inframe_deletion|MODERATE|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.428_445delTGCTGGCGCTGCTGCTGC|p.Leu143_Leu148del|491/953|428/483|143/160||INFO_REALIGN_3_PRIME 22 43525262 . C T . . ANN=T|missense_variant|MODERATE|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.434C>T|p.Ala145Val|497/953|434/483|145/160|| 22 43525278 . G A . . ANN=A|synonymous_variant|LOW|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.450G>A|p.Leu150Leu|513/953|450/483|150/160|| 22 43525285 . G A . . ANN=A|missense_variant|MODERATE|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.457G>A|p.Gly153Arg|520/953|457/483|153/160|| 22 43525315 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.*4C>T|||||4| 22 43525321 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.*10G>A|||||10| 22 43525331 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.*20G>A|||||20| 22 43525332 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|BIK|BIK|transcript|NM_001197.4|Coding|5/5|c.*21G>T|||||21| 22 43529016 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.*33G>A|||||33|,T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*445G>A|||||445|,T|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.1071G>A|||||| 22 43529020 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.*29C>A|||||29|,T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*441C>A|||||441|,T|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.1067C>A|||||| 22 43529024 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.*25C>A|||||25|,T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*437C>A|||||437|,T|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.1063C>A|||||| 22 43529029 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.*20G>A|||||20|,T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*432G>A|||||432|,T|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.1058G>A|||||| 22 43529059 . G A . . ANN=A|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.1163C>T|p.Pro388Leu|1212/2059|1163/1173|388/390||,A|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*402C>T|||||402|,A|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.1028C>T|||||| 22 43529061 . C A . . ANN=A|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.1161G>T|p.Glu387Asp|1210/2059|1161/1173|387/390||,A|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*400G>T|||||400|,A|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.1026G>T|||||| 22 43529094 . C G . . ANN=G|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.1128G>C|p.Gln376His|1177/2059|1128/1173|376/390||,G|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*367G>C|||||367|,G|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.993G>C|||||| 22 43529138 . T C . . ANN=C|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.1084A>G|p.Asn362Asp|1133/2059|1084/1173|362/390||,C|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*323A>G|||||323|,C|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.949A>G|||||| 22 43529314 . G C . . ANN=C|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.908C>G|p.Ala303Gly|957/2059|908/1173|303/390||,C|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*147C>G|||||147|,C|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.773C>G|||||| 22 43529321 . C T . . ANN=T|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.901G>A|p.Val301Ile|950/2059|901/1173|301/390||,T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*140G>A|||||140|,T|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.766G>A|||||| 22 43529322 . G A . . ANN=A|synonymous_variant|LOW|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.900C>T|p.Asn300Asn|949/2059|900/1173|300/390||,A|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*139C>T|||||139|,A|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.765C>T|||||| 22 43529323 . T C . . ANN=C|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.899A>G|p.Asn300Ser|948/2059|899/1173|300/390||,C|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*138A>G|||||138|,C|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.764A>G|||||| 22 43529393 . C T . . ANN=T|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.829G>A|p.Ala277Thr|878/2059|829/1173|277/390||,T|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*68G>A|||||68|,T|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.694G>A|||||| 22 43529408 . G A . . ANN=A|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|4/4|c.814C>T|p.Arg272Cys|863/2059|814/1173|272/390||,A|3_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|3/3|c.*53C>T|||||53|,A|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|3/3|n.679C>T|||||| 22 43529517 . C T . . ANN=T|intron_variant|MODIFIER|MCAT|MCAT|transcript|NM_173467.4|Coding|3/3|c.730-25G>A||||||,T|intron_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|2/2|c.512-25G>A||||||,T|intron_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|2/2|n.595-25G>A|||||| 22 43533044 . C T . . ANN=T|intron_variant|MODIFIER|MCAT|MCAT|transcript|NM_173467.4|Coding|3/3|c.729+43G>A||||||,T|intron_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|2/2|c.512-3552G>A||||||,T|intron_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|2/2|n.595-3552G>A|||||| 22 43533105 . C G . . ANN=G|synonymous_variant|LOW|MCAT|MCAT|transcript|NM_173467.4|Coding|3/4|c.711G>C|p.Val237Val|760/2059|711/1173|237/390||,G|intron_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|2/2|c.512-3613G>C||||||,G|intron_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|2/2|n.595-3613G>C|||||| 22 43533146 . C T . . ANN=T|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|3/4|c.670G>A|p.Val224Ile|719/2059|670/1173|224/390||,T|intron_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|2/2|c.512-3654G>A||||||,T|intron_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|2/2|n.595-3654G>A|||||| 22 43533221 . G A . . ANN=A|stop_gained|HIGH|MCAT|MCAT|transcript|NM_173467.4|Coding|3/4|c.595C>T|p.Gln199*|644/2059|595/1173|199/390||,A|intron_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|2/2|c.512-3729C>T||||||,A|intron_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|2/2|n.595-3729C>T||||||;LOF=(MCAT|MCAT|3|0.33);NMD=(MCAT|MCAT|3|0.33) 22 43533222 . G A . . ANN=A|synonymous_variant|LOW|MCAT|MCAT|transcript|NM_173467.4|Coding|3/4|c.594C>T|p.Gly198Gly|643/2059|594/1173|198/390||,A|intron_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|2/2|c.512-3730C>T||||||,A|intron_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|2/2|n.595-3730C>T|||||| 22 43538965 . G C . . ANN=C|synonymous_variant|LOW|MCAT|MCAT|transcript|NM_173467.4|Coding|1/4|c.390C>G|p.Ala130Ala|439/2059|390/1173|130/390||,C|synonymous_variant|LOW|MCAT|MCAT|transcript|NM_014507.3|Coding|1/3|c.390C>G|p.Ala130Ala|439/1841|390/543|130/180||,C|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|1/3|n.439C>G|||||| 22 43539120 . G C . . ANN=C|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|1/4|c.235C>G|p.Arg79Gly|284/2059|235/1173|79/390||,C|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_014507.3|Coding|1/3|c.235C>G|p.Arg79Gly|284/1841|235/543|79/180||,C|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|1/3|n.284C>G|||||| 22 43539246 . C T . . ANN=T|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|1/4|c.109G>A|p.Glu37Lys|158/2059|109/1173|37/390||,T|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_014507.3|Coding|1/3|c.109G>A|p.Glu37Lys|158/1841|109/543|37/180||,T|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|1/3|n.158G>A|||||| 22 43539279 . G A . . ANN=A|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_173467.4|Coding|1/4|c.76C>T|p.Pro26Ser|125/2059|76/1173|26/390||,A|missense_variant|MODERATE|MCAT|MCAT|transcript|NM_014507.3|Coding|1/3|c.76C>T|p.Pro26Ser|125/1841|76/543|26/180||,A|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|1/3|n.125C>T|||||| 22 43539375 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_173467.4|Coding|1/4|c.-21C>T|||||21|,A|5_prime_UTR_variant|MODIFIER|MCAT|MCAT|transcript|NM_014507.3|Coding|1/3|c.-21C>T|||||21|,A|non_coding_exon_variant|MODIFIER|MCAT|MCAT|transcript|NR_046423.1|Noncoding|1/3|n.29C>T|||||| 22 43555285 . C T . . ANN=T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_000714.5|Coding|2/4|c.41C>T|p.Ala14Val|161/881|41/510|14/169||,T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256531.1|Coding|2/4|c.41C>T|p.Ala14Val|265/985|41/510|14/169||,T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256530.1|Coding|2/4|c.41C>T|p.Ala14Val|356/1076|41/510|14/169||,T|intron_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|1/2|n.92-1773C>T|||||| 22 43555337 . C T . . ANN=T|synonymous_variant|LOW|TSPO|TSPO|transcript|NM_000714.5|Coding|2/4|c.93C>T|p.Leu31Leu|213/881|93/510|31/169||,T|synonymous_variant|LOW|TSPO|TSPO|transcript|NM_001256531.1|Coding|2/4|c.93C>T|p.Leu31Leu|317/985|93/510|31/169||,T|synonymous_variant|LOW|TSPO|TSPO|transcript|NM_001256530.1|Coding|2/4|c.93C>T|p.Leu31Leu|408/1076|93/510|31/169||,T|intron_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|1/2|n.92-1721C>T|||||| 22 43555409 . G A . . ANN=A|synonymous_variant|LOW|TSPO|TSPO|transcript|NM_000714.5|Coding|2/4|c.165G>A|p.Thr55Thr|285/881|165/510|55/169||,A|synonymous_variant|LOW|TSPO|TSPO|transcript|NM_001256531.1|Coding|2/4|c.165G>A|p.Thr55Thr|389/985|165/510|55/169||,A|synonymous_variant|LOW|TSPO|TSPO|transcript|NM_001256530.1|Coding|2/4|c.165G>A|p.Thr55Thr|480/1076|165/510|55/169||,A|intron_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|1/2|n.92-1649G>A|||||| 22 43557008 . G A . . ANN=A|intron_variant|MODIFIER|TSPO|TSPO|transcript|NM_000714.5|Coding|2/3|c.183-50G>A||||||,A|intron_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|1/2|n.92-50G>A||||||,A|intron_variant|MODIFIER|TSPO|TSPO|transcript|NM_001256531.1|Coding|2/3|c.183-50G>A||||||,A|intron_variant|MODIFIER|TSPO|TSPO|transcript|NM_001256530.1|Coding|2/3|c.183-50G>A|||||| 22 43557156 . C T . . ANN=T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_000714.5|Coding|3/4|c.281C>T|p.Ala94Val|401/881|281/510|94/169||,T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256531.1|Coding|3/4|c.281C>T|p.Ala94Val|505/985|281/510|94/169||,T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256530.1|Coding|3/4|c.281C>T|p.Ala94Val|596/1076|281/510|94/169||,T|non_coding_exon_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|2/3|n.190C>T|||||| 22 43558843 . C T . . ANN=T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_000714.5|Coding|4/4|c.356C>T|p.Ala119Val|476/881|356/510|119/169||,T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256531.1|Coding|4/4|c.356C>T|p.Ala119Val|580/985|356/510|119/169||,T|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256530.1|Coding|4/4|c.356C>T|p.Ala119Val|671/1076|356/510|119/169||,T|non_coding_exon_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|3/3|n.265C>T|||||| 22 43558926 . A G . . ANN=G|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_000714.5|Coding|4/4|c.439A>G|p.Thr147Ala|559/881|439/510|147/169||,G|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256531.1|Coding|4/4|c.439A>G|p.Thr147Ala|663/985|439/510|147/169||,G|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256530.1|Coding|4/4|c.439A>G|p.Thr147Ala|754/1076|439/510|147/169||,G|non_coding_exon_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|3/3|n.348A>G|||||| 22 43558972 . G A . . ANN=A|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_000714.5|Coding|4/4|c.485G>A|p.Arg162His|605/881|485/510|162/169||,A|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256531.1|Coding|4/4|c.485G>A|p.Arg162His|709/985|485/510|162/169||,A|missense_variant|MODERATE|TSPO|TSPO|transcript|NM_001256530.1|Coding|4/4|c.485G>A|p.Arg162His|800/1076|485/510|162/169||,A|non_coding_exon_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|3/3|n.394G>A|||||| 22 43558999 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|TSPO|TSPO|transcript|NM_000714.5|Coding|4/4|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TSPO|TSPO|transcript|NM_001256531.1|Coding|4/4|c.*2T>G|||||2|,G|3_prime_UTR_variant|MODIFIER|TSPO|TSPO|transcript|NM_001256530.1|Coding|4/4|c.*2T>G|||||2|,G|non_coding_exon_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|3/3|n.421T>G|||||| 22 43559056 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TSPO|TSPO|transcript|NM_000714.5|Coding|4/4|c.*59G>A|||||59|,A|3_prime_UTR_variant|MODIFIER|TSPO|TSPO|transcript|NM_001256531.1|Coding|4/4|c.*59G>A|||||59|,A|3_prime_UTR_variant|MODIFIER|TSPO|TSPO|transcript|NM_001256530.1|Coding|4/4|c.*59G>A|||||59|,A|non_coding_exon_variant|MODIFIER|TSPO|TSPO|transcript|NR_046308.1|Noncoding|3/3|n.478G>A|||||| 22 43563998 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|14/14|c.*16A>G|||||16| 22 43564050 . G C . . ANN=C|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|14/14|c.1899C>G|p.Asp633Glu|1961/3383|1899/1935|633/644|| 22 43564146 . C A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|14/14|c.1803G>T|p.Pro601Pro|1865/3383|1803/1935|601/644|| 22 43564733 . A AG . . ANN=AG|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|13/13|c.1783+46_1783+47insC|||||| 22 43564814 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|13/14|c.1749C>T|p.Val583Val|1811/3383|1749/1935|583/644|| 22 43564860 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|13/14|c.1703C>T|p.Pro568Leu|1765/3383|1703/1935|568/644|| 22 43564923 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|12/13|c.1645-5C>A|||||| 22 43564963 . C G . . ANN=G|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|12/13|c.1645-45G>C|||||| 22 43565459 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|12/13|c.1644+47G>A|||||| 22 43565460 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|12/13|c.1644+46C>T|||||| 22 43565473 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|12/13|c.1644+33G>A|||||| 22 43565515 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|12/14|c.1635G>A|p.Thr545Thr|1697/3383|1635/1935|545/644|| 22 43565516 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|12/14|c.1634C>T|p.Thr545Met|1696/3383|1634/1935|545/644|| 22 43565600 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|11/13|c.1576-26C>T|||||| 22 43567789 . T C . . ANN=C|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|11/13|c.1575+36A>G|||||| 22 43567813 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|11/13|c.1575+12G>A|||||| 22 43567816 . A T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|11/13|c.1575+9T>A|||||| 22 43567861 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|11/14|c.1539G>A|p.Thr513Thr|1601/3383|1539/1935|513/644|| 22 43567876 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|11/14|c.1524C>T|p.Tyr508Tyr|1586/3383|1524/1935|508/644|| 22 43567936 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/13|c.1494-30C>T|||||| 22 43567937 . T A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/13|c.1494-31A>T|||||| 22 43567954 . C A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/13|c.1494-48G>T|||||| 22 43568362 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/13|c.1493+47G>A|||||| 22 43568439 . T C . . ANN=C|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/14|c.1463A>G|p.Tyr488Cys|1525/3383|1463/1935|488/644|| 22 43568494 . C T . . ANN=T|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/14|c.1408G>A|p.Asp470Asn|1470/3383|1408/1935|470/644|| 22 43568495 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/14|c.1407C>T|p.Phe469Phe|1469/3383|1407/1935|469/644|| 22 43568512 . C T . . ANN=T|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/14|c.1390G>A|p.Val464Met|1452/3383|1390/1935|464/644|| 22 43568534 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|10/14|c.1368C>T|p.Pro456Pro|1430/3383|1368/1935|456/644|| 22 43568583 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|9/13|c.1342-23G>A|||||| 22 43569673 . GT G . . ANN=G|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|9/13|c.1341+47delA|||||| 22 43569692 . C G . . ANN=G|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|9/13|c.1341+29G>C|||||| 22 43569755 . T C . . ANN=C|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|9/14|c.1307A>G|p.His436Arg|1369/3383|1307/1935|436/644|| 22 43569836 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|8/13|c.1230-4C>G|||||| 22 43569838 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|8/13|c.1230-6C>T|||||| 22 43569839 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|8/13|c.1230-7T>C|||||| 22 43569858 . G C . . ANN=C|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|8/13|c.1230-26C>G|||||| 22 43569861 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|8/13|c.1230-29G>A|||||| 22 43570223 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|8/14|c.1221G>A|p.Arg407Arg|1283/3383|1221/1935|407/644|| 22 43570301 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|8/14|c.1143C>T|p.Pro381Pro|1205/3383|1143/1935|381/644|| 22 43570322 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|8/14|c.1122C>T|p.Ile374Ile|1184/3383|1122/1935|374/644|| 22 43570441 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/13|c.1035-32C>T|||||| 22 43570454 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/13|c.1035-45C>T|||||| 22 43570463 . A G . . ANN=G|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/13|c.1034+42T>C|||||| 22 43570487 . G C . . ANN=C|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/13|c.1034+18C>G|||||| 22 43570498 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/13|c.1034+7G>T|||||| 22 43570531 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/14|c.1008C>T|p.Phe336Phe|1070/3383|1008/1935|336/644|| 22 43570546 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/14|c.993C>T|p.Asp331Asp|1055/3383|993/1935|331/644|| 22 43570550 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/14|c.989C>T|p.Ala330Val|1051/3383|989/1935|330/644|| 22 43570583 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/14|c.956C>T|p.Thr319Ile|1018/3383|956/1935|319/644|| 22 43570602 . G C . . ANN=C|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|7/14|c.937C>G|p.Gln313Glu|999/3383|937/1935|313/644|| 22 43570659 . A C . . ANN=C|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/13|c.918-38T>G|||||| 22 43570670 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/13|c.918-49G>A|||||| 22 43570671 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/13|c.918-50C>T|||||| 22 43572308 . TG T,TGG . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/13|c.917+17delC||||||,TGG|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/13|c.917+16_917+17insC|||||| 22 43572311 . G A,T . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/13|c.917+15C>T||||||,T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/13|c.917+15C>A|||||| 22 43572322 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/13|c.917+4C>T|||||| 22 43572349 . C A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/14|c.894G>T|p.Val298Val|956/3383|894/1935|298/644|| 22 43572354 . C T . . ANN=T|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|6/14|c.889G>A|p.Val297Met|951/3383|889/1935|297/644|| 22 43572416 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|5/13|c.841-14G>A|||||| 22 43572420 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|5/13|c.841-18C>T|||||| 22 43575616 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|5/13|c.840+9C>T|||||| 22 43575682 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|5/14|c.783C>T|p.Pro261Pro|845/3383|783/1935|261/644|| 22 43575775 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/13|c.707-17C>T|||||| 22 43575795 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/13|c.707-37G>A|||||| 22 43575828 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/13|c.706+19C>T|||||| 22 43575849 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/14|c.704G>A|p.Gly235Asp|766/3383|704/1935|235/644|| 22 43575914 . G C . . ANN=C|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/14|c.639C>G|p.Pro213Pro|701/3383|639/1935|213/644|| 22 43575935 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/14|c.618G>A|p.Val206Val|680/3383|618/1935|206/644|| 22 43575939 . TC T . . ANN=T|frameshift_variant|HIGH|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/14|c.613delG|p.Asp205fs|675/3383|613/1935|205/644||;LOF=(TTLL12|TTLL12|1|1.00) 22 43575941 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/14|c.612G>A|p.Ala204Ala|674/3383|612/1935|204/644|| 22 43575956 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/14|c.597G>A|p.Ser199Ser|659/3383|597/1935|199/644|| 22 43576006 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|4/14|c.547A>G|p.Thr183Ala|609/3383|547/1935|183/644|| 22 43576035 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/13|c.547-29G>A|||||| 22 43576049 . C A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/13|c.547-43G>T|||||| 22 43576054 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/13|c.547-48G>A|||||| 22 43576721 . C G . . ANN=G|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/13|c.546+27G>C|||||| 22 43576727 . G A . . ANN=A|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/13|c.546+21C>T|||||| 22 43576831 . C G . . ANN=G|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/14|c.463G>C|p.Gly155Arg|525/3383|463/1935|155/644|| 22 43576832 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/14|c.462C>T|p.His154His|524/3383|462/1935|154/644|| 22 43576880 . C A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/14|c.414G>T|p.Val138Val|476/3383|414/1935|138/644|| 22 43576904 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|3/14|c.390C>T|p.His130His|452/3383|390/1935|130/644|| 22 43576977 . C T . . ANN=T|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/13|c.348-31G>A|||||| 22 43579006 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/14|c.327C>T|p.Leu109Leu|389/3383|327/1935|109/644|| 22 43579008 . G C . . ANN=C|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/14|c.325C>G|p.Leu109Val|387/3383|325/1935|109/644|| 22 43579012 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/14|c.321C>T|p.Ser107Ser|383/3383|321/1935|107/644|| 22 43579049 . T C . . ANN=C|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/14|c.284A>G|p.Asn95Ser|346/3383|284/1935|95/644|| 22 43579055 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/14|c.278C>T|p.Pro93Leu|340/3383|278/1935|93/644|| 22 43579081 . C T . . ANN=T|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/14|c.252G>A|p.Arg84Arg|314/3383|252/1935|84/644|| 22 43579083 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/14|c.250C>T|p.Arg84Trp|312/3383|250/1935|84/644|| 22 43579150 . G A . . ANN=A|synonymous_variant|LOW|TTLL12|TTLL12|transcript|NM_015140.3|Coding|2/14|c.183C>T|p.Phe61Phe|245/3383|183/1935|61/644|| 22 43579181 . G C . . ANN=C|intron_variant|MODIFIER|TTLL12|TTLL12|transcript|NM_015140.3|Coding|1/13|c.178-26C>G|||||| 22 43583051 . G A . . ANN=A|missense_variant|MODERATE|TTLL12|TTLL12|transcript|NM_015140.3|Coding|1/14|c.25C>T|p.Arg9Cys|87/3383|25/1935|9/644|| 22 43599958 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|22/22|c.*45G>A|||||45| 22 43599965 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|22/22|c.*38G>A|||||38| 22 43599991 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|22/22|c.*12G>A|||||12| 22 43600000 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|22/22|c.*3G>A|||||3| 22 43600126 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|22/22|c.2844C>T|p.Asp948Asp|2971/3868|2844/2967|948/988|| 22 43603510 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|21/21|c.2814+30G>A|||||| 22 43603585 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|21/22|c.2769C>T|p.Arg923Arg|2896/3868|2769/2967|923/988|| 22 43603665 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|20/21|c.2735-46C>T|||||| 22 43604034 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|20/21|c.2734+44G>A|||||| 22 43604152 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|20/22|c.2660A>G|p.Lys887Arg|2787/3868|2660/2967|887/988|| 22 43604235 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/21|c.2582-5C>T|||||| 22 43606024 . C G . . ANN=G|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/21|c.2581+25G>C|||||| 22 43606040 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/21|c.2581+9G>A|||||| 22 43606057 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2573G>A|p.Arg858Lys|2700/3868|2573/2967|858/988|| 22 43606088 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2542G>A|p.Glu848Lys|2669/3868|2542/2967|848/988|| 22 43606143 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2487G>A|p.Ala829Ala|2614/3868|2487/2967|829/988|| 22 43606158 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2472C>T|p.Cys824Cys|2599/3868|2472/2967|824/988|| 22 43606181 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2449G>A|p.Asp817Asn|2576/3868|2449/2967|817/988|| 22 43606203 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2427C>T|p.Ile809Ile|2554/3868|2427/2967|809/988|| 22 43606212 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2418C>T|p.Thr806Thr|2545/3868|2418/2967|806/988|| 22 43606215 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2415C>T|p.Tyr805Tyr|2542/3868|2415/2967|805/988|| 22 43606236 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|19/22|c.2394C>T|p.Cys798Cys|2521/3868|2394/2967|798/988|| 22 43606944 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|18/22|c.2367C>T|p.Asn789Asn|2494/3868|2367/2967|789/988|| 22 43606987 . G A . . ANN=A|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|18/22|c.2324C>T|p.Thr775Ile|2451/3868|2324/2967|775/988|| 22 43607031 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|18/22|c.2280C>T|p.Pro760Pro|2407/3868|2280/2967|760/988|| 22 43607040 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|18/22|c.2271C>T|p.Ile757Ile|2398/3868|2271/2967|757/988|| 22 43608531 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|17/22|c.2121G>A|p.Thr707Thr|2248/3868|2121/2967|707/988|| 22 43608626 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/21|c.2054-28C>T|||||| 22 43610059 . C G . . ANN=G|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/21|c.2053+37G>C|||||| 22 43610090 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/21|c.2053+6T>C|||||| 22 43610106 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/22|c.2043G>A|p.Ser681Ser|2170/3868|2043/2967|681/988|| 22 43610112 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/22|c.2037C>T|p.Asn679Asn|2164/3868|2037/2967|679/988|| 22 43610138 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/22|c.2011G>A|p.Gly671Arg|2138/3868|2011/2967|671/988|| 22 43610141 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/22|c.2008G>A|p.Asp670Asn|2135/3868|2008/2967|670/988|| 22 43610201 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/22|c.1948A>G|p.Met650Val|2075/3868|1948/2967|650/988|| 22 43610207 . A G . . ANN=G|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|16/22|c.1942T>C|p.Ser648Pro|2069/3868|1942/2967|648/988|| 22 43614223 . C G . . ANN=G|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|15/21|c.1891+38G>C|||||| 22 43614292 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|15/22|c.1860C>T|p.Gly620Gly|1987/3868|1860/2967|620/988|| 22 43614316 . C G . . ANN=G|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|15/22|c.1836G>C|p.Ala612Ala|1963/3868|1836/2967|612/988|| 22 43614364 . G T . . ANN=T|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|15/22|c.1788C>A|p.Val596Val|1915/3868|1788/2967|596/988|| 22 43614489 . A G . . ANN=G|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|14/21|c.1688-25T>C|||||| 22 43616481 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|14/22|c.1662C>T|p.Ile554Ile|1789/3868|1662/2967|554/988|| 22 43616565 . G C . . ANN=C|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|14/22|c.1578C>G|p.Leu526Leu|1705/3868|1578/2967|526/988|| 22 43616580 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|14/22|c.1563G>A|p.Val521Val|1690/3868|1563/2967|521/988|| 22 43616627 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|13/21|c.1550-34C>T|||||| 22 43616628 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|13/21|c.1550-35G>A|||||| 22 43617144 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|13/21|c.1549+35C>T|||||| 22 43617168 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|13/21|c.1549+11C>T|||||| 22 43618619 . A G . . ANN=G|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|12/21|c.1432+25T>C|||||| 22 43618632 . CG C . . ANN=C|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|12/21|c.1432+11delC|||||| 22 43618637 . G GGGTT . . ANN=GGGTT|splice_region_variant&intron_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|12/21|c.1432+6_1432+7insAACC|||||| 22 43618695 . C A . . ANN=A|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|12/22|c.1381G>T|p.Ala461Ser|1508/3868|1381/2967|461/988|| 22 43618708 . C A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|12/22|c.1368G>T|p.Gly456Gly|1495/3868|1368/2967|456/988|| 22 43619062 . C G . . ANN=G|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|11/21|c.1327+41G>C|||||| 22 43619072 . A C . . ANN=C|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|11/21|c.1327+31T>G|||||| 22 43619096 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|11/21|c.1327+7C>T|||||| 22 43619125 . C G . . ANN=G|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|11/22|c.1305G>C|p.Pro435Pro|1432/3868|1305/2967|435/988|| 22 43619170 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|11/22|c.1260C>T|p.Ser420Ser|1387/3868|1260/2967|420/988|| 22 43619183 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|11/22|c.1247G>A|p.Arg416Gln|1374/3868|1247/2967|416/988|| 22 43619200 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|11/22|c.1230C>T|p.Arg410Arg|1357/3868|1230/2967|410/988|| 22 43623353 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|10/21|c.1207+27C>T|||||| 22 43623383 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|10/22|c.1204G>A|p.Val402Met|1331/3868|1204/2967|402/988|| 22 43623386 . A G . . ANN=G|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|10/22|c.1201T>C|p.Cys401Arg|1328/3868|1201/2967|401/988|| 22 43623395 . C G . . ANN=G|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|10/22|c.1192G>C|p.Gly398Arg|1319/3868|1192/2967|398/988|| 22 43623417 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|10/22|c.1170G>A|p.Pro390Pro|1297/3868|1170/2967|390/988|| 22 43623418 . G C . . ANN=C|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|10/22|c.1169C>G|p.Pro390Arg|1296/3868|1169/2967|390/988|| 22 43623429 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|10/22|c.1158C>T|p.Cys386Cys|1285/3868|1158/2967|386/988|| 22 43623430 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|10/22|c.1157G>A|p.Cys386Tyr|1284/3868|1157/2967|386/988|| 22 43623515 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|9/21|c.1085-13G>A|||||| 22 43625045 . G C . . ANN=C|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|9/21|c.1084+33C>G|||||| 22 43625063 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|9/21|c.1084+15C>T|||||| 22 43625093 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|9/22|c.1069A>G|p.Thr357Ala|1196/3868|1069/2967|357/988|| 22 43625113 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|9/22|c.1049G>A|p.Arg350His|1176/3868|1049/2967|350/988|| 22 43625127 . C T . . ANN=T|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|9/22|c.1035G>A|p.Gln345Gln|1162/3868|1035/2967|345/988|| 22 43625225 . G T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|8/21|c.968-31C>A|||||| 22 43627712 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|8/21|c.967+47G>A|||||| 22 43627727 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|8/21|c.967+32G>A|||||| 22 43627728 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|8/21|c.967+31C>T|||||| 22 43627838 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|8/22|c.888C>T|p.Phe296Phe|1015/3868|888/2967|296/988|| 22 43634809 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|7/21|c.844+35G>A|||||| 22 43634902 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|7/22|c.786C>T|p.Gly262Gly|913/3868|786/2967|262/988|| 22 43634953 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|7/22|c.735C>T|p.Cys245Cys|862/3868|735/2967|245/988|| 22 43654190 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|6/21|c.727+35G>A|||||| 22 43654226 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|6/22|c.726C>T|p.Ile242Ile|853/3868|726/2967|242/988|| 22 43654253 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|6/22|c.699C>T|p.Ala233Ala|826/3868|699/2967|233/988|| 22 43654278 . G A . . ANN=A|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|6/22|c.674C>T|p.Thr225Met|801/3868|674/2967|225/988|| 22 43658691 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|5/21|c.610+35G>A|||||| 22 43658774 . C T . . ANN=T|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|5/22|c.562G>A|p.Asp188Asn|689/3868|562/2967|188/988|| 22 43658876 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|4/21|c.485-25G>A|||||| 22 43658892 . C A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|4/21|c.485-41G>T|||||| 22 43687007 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|4/21|c.484+45G>A|||||| 22 43687014 . G T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|4/21|c.484+38C>A|||||| 22 43687171 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|4/22|c.365A>G|p.Gln122Arg|492/3868|365/2967|122/988|| 22 43687213 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|3/21|c.350-27G>A|||||| 22 43716097 . G A . . ANN=A|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|2/21|c.221-26C>T|||||| 22 43716118 . T G . . ANN=G|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|2/21|c.221-47A>C|||||| 22 43735086 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|2/21|c.220+24G>A|||||| 22 43735096 . C T . . ANN=T|intron_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|2/21|c.220+14G>A|||||| 22 43735185 . T C . . ANN=C|missense_variant|MODERATE|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|2/22|c.145A>G|p.Ile49Val|272/3868|145/2967|49/988|| 22 43735234 . G A . . ANN=A|synonymous_variant|LOW|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|2/22|c.96C>T|p.Val32Val|223/3868|96/2967|32/988|| 22 43739290 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SCUBE1|SCUBE1|transcript|NM_173050.3|Coding|1/22|c.-23G>A|||||23| 22 43820952 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|2/7|c.-40C>T|||||40| 22 43820981 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|2/7|c.-11G>A|||||11| 22 43830908 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|2/6|c.225-46C>T|||||| 22 43830910 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|2/6|c.225-44C>T|||||| 22 43830921 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|2/6|c.225-33C>T|||||| 22 43830996 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|3/7|c.267C>T|p.Tyr89Tyr|490/2508|267/981|89/326|| 22 43831005 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|3/7|c.276C>T|p.Phe92Phe|499/2508|276/981|92/326|| 22 43831023 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|3/7|c.294C>T|p.Thr98Thr|517/2508|294/981|98/326|| 22 43831056 . C T . . ANN=T|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|3/7|c.327C>T|p.Tyr109Tyr|550/2508|327/981|109/326|| 22 43831058 . G C . . ANN=C|missense_variant|MODERATE|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|3/7|c.329G>C|p.Gly110Ala|552/2508|329/981|110/326|| 22 43870704 . G A . . ANN=A|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|4/7|c.495G>A|p.Gln165Gln|718/2508|495/981|165/326|| 22 43870725 . T A . . ANN=A|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|4/7|c.516T>A|p.Ser172Ser|739/2508|516/981|172/326|| 22 43870743 . G A . . ANN=A|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|4/7|c.534G>A|p.Pro178Pro|757/2508|534/981|178/326|| 22 43870761 . G A . . ANN=A|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|4/7|c.552G>A|p.Val184Val|775/2508|552/981|184/326|| 22 43870800 . G A . . ANN=A|synonymous_variant|LOW|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|4/7|c.591G>A|p.Ser197Ser|814/2508|591/981|197/326|| 22 43870810 . G A . . ANN=A|missense_variant|MODERATE|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|4/7|c.601G>A|p.Val201Met|824/2508|601/981|201/326|| 22 43898489 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|5/6|c.749-35C>T|||||| 22 43898650 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|6/6|c.862+13C>T|||||| 22 43898667 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|6/6|c.862+30C>T|||||| 22 43898685 . T C . . ANN=C|intron_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|6/6|c.862+48T>C|||||| 22 43901333 . C T . . ANN=T|intron_variant|MODIFIER|MPPED1|MPPED1|transcript|NM_001044370.1|Coding|6/6|c.863-45C>T|||||| 22 43924691 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|32/32|c.*42C>A|||||42|,T|3_prime_UTR_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|30/30|c.*42C>A|||||42|,T|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-6042G>T|||||| 22 43924749 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|32/32|c.4490G>A|p.Arg1497Gln|4804/4929|4490/4506|1497/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|30/30|c.4034G>A|p.Arg1345Gln|4446/4571|4034/4050|1345/1349||,T|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-5984C>T|||||| 22 43924753 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|32/32|c.4486C>T|p.Leu1496Phe|4800/4929|4486/4506|1496/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|30/30|c.4030C>T|p.Leu1344Phe|4442/4571|4030/4050|1344/1349||,A|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-5980G>A|||||| 22 43926715 . T G . . ANN=G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|31/32|c.4363A>C|p.Ser1455Arg|4677/4929|4363/4506|1455/1501||,G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|29/30|c.3907A>C|p.Ser1303Arg|4319/4571|3907/4050|1303/1349||,G|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-4018T>G|||||| 22 43926725 . T C . . ANN=C|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|31/32|c.4353A>G|p.Thr1451Thr|4667/4929|4353/4506|1451/1501||,C|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|29/30|c.3897A>G|p.Thr1299Thr|4309/4571|3897/4050|1299/1349||,C|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-4008T>C|||||| 22 43926729 . C A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|31/32|c.4349G>T|p.Gly1450Val|4663/4929|4349/4506|1450/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|29/30|c.3893G>T|p.Gly1298Val|4305/4571|3893/4050|1298/1349||,A|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-4004C>A|||||| 22 43926741 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|31/32|c.4337A>G|p.Tyr1446Cys|4651/4929|4337/4506|1446/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|29/30|c.3881A>G|p.Tyr1294Cys|4293/4571|3881/4050|1294/1349||,C|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-3992T>C|||||| 22 43926758 . C G . . ANN=G|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|31/32|c.4320G>C|p.Arg1440Arg|4634/4929|4320/4506|1440/1501||,G|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|29/30|c.3864G>C|p.Arg1288Arg|4276/4571|3864/4050|1288/1349||,G|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-3975C>G|||||| 22 43926808 . CAGAGT C . . ANN=C|frameshift_variant|HIGH|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|31/32|c.4265_4269delACTCT|p.Tyr1422fs|4583/4929|4265/4506|1422/1501||,C|frameshift_variant|HIGH|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|29/30|c.3809_3813delACTCT|p.Tyr1270fs|4225/4571|3809/4050|1270/1349||,|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-3923_245-3919delGAGTA||||||INFO_REALIGN_3_PRIME;LOF=(EFCAB6|EFCAB6|2|1.00) 22 43926857 . CAAGAAGGGGT C . . ANN=C|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-3875_245-3866delAAGAAGGGGT||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|30/31|c.4234-23_4234-14delACCCCTTCTT||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|28/29|c.3778-23_3778-14delACCCCTTCTT|||||| 22 43930524 . C G . . ANN=G|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-209C>G||||||,G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|30/31|c.4233+44G>C||||||,G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|28/29|c.3777+44G>C|||||| 22 43930672 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|30/32|c.4129G>A|p.Gly1377Arg|4443/4929|4129/4506|1377/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|28/30|c.3673G>A|p.Gly1225Arg|4085/4571|3673/4050|1225/1349||,T|intron_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|2/2|n.245-61C>T|||||| 22 43930785 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/31|c.4049-33C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/29|c.3593-33C>T||||||,A|non_coding_exon_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|3/3|n.297G>A|||||| 22 43930797 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/31|c.4049-45G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/29|c.3593-45G>A||||||,T|non_coding_exon_variant|MODIFIER|EFCAB6-AS1|EFCAB6-AS1|transcript|NR_046563.1|Noncoding|3/3|n.309C>T|||||| 22 43933207 . TGCCACAGGG T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/31|c.4048+41_4048+49delCCCTGTGGC||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/29|c.3592+41_3592+49delCCCTGTGGC|||||| 22 43933252 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/31|c.4048+5G>T||||||,A|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/29|c.3592+5G>T|||||| 22 43933284 . CCT C . . ANN=C|frameshift_variant|HIGH|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/32|c.4019_4020delAG|p.Gln1340fs|4334/4929|4019/4506|1340/1501||,C|frameshift_variant|HIGH|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/30|c.3563_3564delAG|p.Gln1188fs|3976/4571|3563/4050|1188/1349||;LOF=(EFCAB6|EFCAB6|2|1.00) 22 43933317 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/32|c.3988A>G|p.Lys1330Glu|4302/4929|3988/4506|1330/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/30|c.3532A>G|p.Lys1178Glu|3944/4571|3532/4050|1178/1349|| 22 43933329 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/32|c.3976C>T|p.Arg1326Cys|4290/4929|3976/4506|1326/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/30|c.3520C>T|p.Arg1174Cys|3932/4571|3520/4050|1174/1349|| 22 43933352 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/32|c.3953G>A|p.Arg1318Gln|4267/4929|3953/4506|1318/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/30|c.3497G>A|p.Arg1166Gln|3909/4571|3497/4050|1166/1349|| 22 43933357 . C A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/32|c.3948G>T|p.Arg1316Ser|4262/4929|3948/4506|1316/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/30|c.3492G>T|p.Arg1164Ser|3904/4571|3492/4050|1164/1349|| 22 43933408 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|29/32|c.3897C>T|p.Thr1299Thr|4211/4929|3897/4506|1299/1501||,A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|27/30|c.3441C>T|p.Thr1147Thr|3853/4571|3441/4050|1147/1349|| 22 43933463 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/31|c.3880-38C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/29|c.3424-38C>T|||||| 22 43933473 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/31|c.3880-48C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/29|c.3424-48C>T|||||| 22 43936074 . G C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/32|c.3812C>G|p.Thr1271Ser|4126/4929|3812/4506|1271/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/30|c.3356C>G|p.Thr1119Ser|3768/4571|3356/4050|1119/1349|| 22 43936082 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/32|c.3804G>A|p.Ser1268Ser|4118/4929|3804/4506|1268/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/30|c.3348G>A|p.Ser1116Ser|3760/4571|3348/4050|1116/1349|| 22 43936117 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/32|c.3769G>A|p.Val1257Met|4083/4929|3769/4506|1257/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/30|c.3313G>A|p.Val1105Met|3725/4571|3313/4050|1105/1349|| 22 43936166 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/32|c.3720G>A|p.Arg1240Arg|4034/4929|3720/4506|1240/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/30|c.3264G>A|p.Arg1088Arg|3676/4571|3264/4050|1088/1349|| 22 43936181 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/32|c.3705G>A|p.Pro1235Pro|4019/4929|3705/4506|1235/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/30|c.3249G>A|p.Pro1083Pro|3661/4571|3249/4050|1083/1349|| 22 43936207 . T A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/32|c.3679A>T|p.Asn1227Tyr|3993/4929|3679/4506|1227/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/30|c.3223A>T|p.Asn1075Tyr|3635/4571|3223/4050|1075/1349|| 22 43936219 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|28/32|c.3667G>A|p.Glu1223Lys|3981/4929|3667/4506|1223/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|26/30|c.3211G>A|p.Glu1071Lys|3623/4571|3211/4050|1071/1349|| 22 43950728 . G C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/31|c.3648+21C>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/29|c.3192+21C>G|||||| 22 43950774 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3623G>A|p.Arg1208His|3937/4929|3623/4506|1208/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.3167G>A|p.Arg1056His|3579/4571|3167/4050|1056/1349|| 22 43950800 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3597G>A|p.Glu1199Glu|3911/4929|3597/4506|1199/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.3141G>A|p.Glu1047Glu|3553/4571|3141/4050|1047/1349|| 22 43950819 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3578C>T|p.Thr1193Met|3892/4929|3578/4506|1193/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.3122C>T|p.Thr1041Met|3534/4571|3122/4050|1041/1349|| 22 43950826 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3571A>G|p.Met1191Val|3885/4929|3571/4506|1191/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.3115A>G|p.Met1039Val|3527/4571|3115/4050|1039/1349|| 22 43950853 . T G . . ANN=G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3544A>C|p.Thr1182Pro|3858/4929|3544/4506|1182/1501||,G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.3088A>C|p.Thr1030Pro|3500/4571|3088/4050|1030/1349|| 22 43950891 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3506G>A|p.Arg1169His|3820/4929|3506/4506|1169/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.3050G>A|p.Arg1017His|3462/4571|3050/4050|1017/1349|| 22 43950935 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3462G>A|p.Pro1154Pro|3776/4929|3462/4506|1154/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.3006G>A|p.Pro1002Pro|3418/4571|3006/4050|1002/1349|| 22 43950936 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3461C>T|p.Pro1154Leu|3775/4929|3461/4506|1154/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.3005C>T|p.Pro1002Leu|3417/4571|3005/4050|1002/1349|| 22 43950949 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|27/32|c.3448C>T|p.Pro1150Ser|3762/4929|3448/4506|1150/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|25/30|c.2992C>T|p.Pro998Ser|3404/4571|2992/4050|998/1349|| 22 43951008 . T A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|26/31|c.3421-32A>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|24/29|c.2965-32A>T|||||| 22 43972255 . C G . . ANN=G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|26/32|c.3342G>C|p.Leu1114Phe|3656/4929|3342/4506|1114/1501||,G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|24/30|c.2886G>C|p.Leu962Phe|3298/4571|2886/4050|962/1349|| 22 43972363 . A C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|26/32|c.3234T>G|p.Phe1078Leu|3548/4929|3234/4506|1078/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|24/30|c.2778T>G|p.Phe926Leu|3190/4571|2778/4050|926/1349|| 22 43972393 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|25/31|c.3229-25C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|23/29|c.2773-25C>T|||||| 22 43976307 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|25/31|c.3228+37A>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|23/29|c.2772+37A>G|||||| 22 43976359 . C A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|25/32|c.3213G>T|p.Gln1071His|3527/4929|3213/4506|1071/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|23/30|c.2757G>T|p.Gln919His|3169/4571|2757/4050|919/1349|| 22 43976396 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|25/32|c.3176C>T|p.Ala1059Val|3490/4929|3176/4506|1059/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|23/30|c.2720C>T|p.Ala907Val|3132/4571|2720/4050|907/1349|| 22 43976414 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|25/32|c.3158C>T|p.Thr1053Met|3472/4929|3158/4506|1053/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|23/30|c.2702C>T|p.Thr901Met|3114/4571|2702/4050|901/1349|| 22 43976423 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|25/32|c.3149A>G|p.Asn1050Ser|3463/4929|3149/4506|1050/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|23/30|c.2693A>G|p.Asn898Ser|3105/4571|2693/4050|898/1349|| 22 43985907 . T G . . ANN=G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|24/31|c.3032+47A>C||||||,G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|22/29|c.2576+47A>C|||||| 22 43985929 . CAT C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|24/31|c.3032+23_3032+24delAT||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|22/29|c.2576+23_2576+24delAT|||||| 22 43986125 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|23/31|c.2877-16A>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|21/29|c.2421-16A>G|||||| 22 43986134 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|23/31|c.2877-25A>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|21/29|c.2421-25A>G|||||| 22 43986141 . A G . . ANN=G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|23/31|c.2877-32T>C||||||,G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|21/29|c.2421-32T>C|||||| 22 43986153 . CAAAT C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|23/31|c.2877-48_2877-45delATTT||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|21/29|c.2421-48_2421-45delATTT|||||| 22 43995970 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|23/32|c.2855C>T|p.Thr952Ile|3169/4929|2855/4506|952/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|21/30|c.2399C>T|p.Thr800Ile|2811/4571|2399/4050|800/1349|| 22 43996082 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|23/32|c.2743A>G|p.Asn915Asp|3057/4929|2743/4506|915/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|21/30|c.2287A>G|p.Asn763Asp|2699/4571|2287/4050|763/1349|| 22 44004350 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|22/31|c.2681+12G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|20/29|c.2225+12G>A|||||| 22 44004351 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|22/31|c.2681+11C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|20/29|c.2225+11C>T|||||| 22 44004465 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|22/32|c.2578G>A|p.Asp860Asn|2892/4929|2578/4506|860/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|20/30|c.2122G>A|p.Asp708Asn|2534/4571|2122/4050|708/1349|| 22 44004498 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|21/31|c.2563-18C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|19/29|c.2107-18C>T|||||| 22 44004513 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|21/31|c.2563-33C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|19/29|c.2107-33C>T|||||| 22 44022331 . T G . . ANN=G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2461A>C|p.Ile821Leu|2775/4929|2461/4506|821/1501||,G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.2005A>C|p.Ile669Leu|2417/4571|2005/4050|669/1349|| 22 44022344 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2448G>A|p.Ala816Ala|2762/4929|2448/4506|816/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.1992G>A|p.Ala664Ala|2404/4571|1992/4050|664/1349|| 22 44022345 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2447C>T|p.Ala816Val|2761/4929|2447/4506|816/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.1991C>T|p.Ala664Val|2403/4571|1991/4050|664/1349|| 22 44022394 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2398C>T|p.Arg800Trp|2712/4929|2398/4506|800/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.1942C>T|p.Arg648Trp|2354/4571|1942/4050|648/1349|| 22 44022418 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2374A>G|p.Arg792Gly|2688/4929|2374/4506|792/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.1918A>G|p.Arg640Gly|2330/4571|1918/4050|640/1349|| 22 44022441 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2351G>A|p.Arg784His|2665/4929|2351/4506|784/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.1895G>A|p.Arg632His|2307/4571|1895/4050|632/1349|| 22 44022454 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2338G>A|p.Asp780Asn|2652/4929|2338/4506|780/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.1882G>A|p.Asp628Asn|2294/4571|1882/4050|628/1349|| 22 44022466 . T A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2326A>T|p.Asn776Tyr|2640/4929|2326/4506|776/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.1870A>T|p.Asn624Tyr|2282/4571|1870/4050|624/1349|| 22 44022493 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|20/32|c.2299C>T|p.His767Tyr|2613/4929|2299/4506|767/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|18/30|c.1843C>T|p.His615Tyr|2255/4571|1843/4050|615/1349|| 22 44022578 . C A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/31|c.2233-19G>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/29|c.1777-19G>T|||||| 22 44022601 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/31|c.2233-42G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/29|c.1777-42G>A|||||| 22 44027964 . C A,T . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/31|c.2232+21G>T||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/31|c.2232+21G>A||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/29|c.1776+21G>T||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/29|c.1776+21G>A|||||| 22 44027965 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/31|c.2232+20C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/29|c.1776+20C>T|||||| 22 44028078 . A G . . ANN=G|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/32|c.2139T>C|p.Pro713Pro|2453/4929|2139/4506|713/1501||,G|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/30|c.1683T>C|p.Pro561Pro|2095/4571|1683/4050|561/1349|| 22 44028085 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/32|c.2132C>T|p.Pro711Leu|2446/4929|2132/4506|711/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/30|c.1676C>T|p.Pro559Leu|2088/4571|1676/4050|559/1349|| 22 44028087 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/32|c.2130G>A|p.Pro710Pro|2444/4929|2130/4506|710/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/30|c.1674G>A|p.Pro558Pro|2086/4571|1674/4050|558/1349|| 22 44028100 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|19/32|c.2117C>T|p.Pro706Leu|2431/4929|2117/4506|706/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|17/30|c.1661C>T|p.Pro554Leu|2073/4571|1661/4050|554/1349|| 22 44028139 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/31|c.2099-21C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/29|c.1643-21C>T|||||| 22 44030935 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/31|c.2098+47C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/29|c.1642+47C>T|||||| 22 44030959 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/31|c.2098+23C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/29|c.1642+23C>T|||||| 22 44030977 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/31|c.2098+5C>G||||||,C|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/29|c.1642+5C>G|||||| 22 44030978 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/31|c.2098+4G>C||||||,G|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/29|c.1642+4G>C|||||| 22 44031027 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/32|c.2053G>A|p.Glu685Lys|2367/4929|2053/4506|685/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/30|c.1597G>A|p.Glu533Lys|2009/4571|1597/4050|533/1349|| 22 44031042 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/32|c.2038A>G|p.Thr680Ala|2352/4929|2038/4506|680/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/30|c.1582A>G|p.Thr528Ala|1994/4571|1582/4050|528/1349|| 22 44031070 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/32|c.2010G>A|p.Met670Ile|2324/4929|2010/4506|670/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/30|c.1554G>A|p.Met518Ile|1966/4571|1554/4050|518/1349|| 22 44031075 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|18/32|c.2005C>T|p.Pro669Ser|2319/4929|2005/4506|669/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|16/30|c.1549C>T|p.Pro517Ser|1961/4571|1549/4050|517/1349|| 22 44031101 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1984-5G>C||||||,G|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1528-5G>C|||||| 22 44031110 . CAG C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1984-16_1984-15delCT||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1528-16_1528-15delCT|||||| 22 44031114 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1984-18C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1528-18C>T|||||| 22 44031128 . C A,T . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1984-32G>T||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1984-32G>A||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1528-32G>T||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1528-32G>A|||||| 22 44031140 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1984-44G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1528-44G>A|||||| 22 44031142 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1984-46G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1528-46G>A|||||| 22 44031143 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1984-47C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1528-47C>T|||||| 22 44062938 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/31|c.1983+46C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/29|c.1527+46C>T|||||| 22 44063048 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/32|c.1919A>G|p.Lys640Arg|2233/4929|1919/4506|640/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/30|c.1463A>G|p.Lys488Arg|1875/4571|1463/4050|488/1349|| 22 44063052 . A G . . ANN=G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|17/32|c.1915T>C|p.Phe639Leu|2229/4929|1915/4506|639/1501||,G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|15/30|c.1459T>C|p.Phe487Leu|1871/4571|1459/4050|487/1349|| 22 44063179 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|16/31|c.1815-27G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|14/29|c.1359-27G>A|||||| 22 44064909 . G C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|16/32|c.1657C>G|p.Gln553Glu|1971/4929|1657/4506|553/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|14/30|c.1201C>G|p.Gln401Glu|1613/4571|1201/4050|401/1349|| 22 44064973 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|15/31|c.1641-48G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|13/29|c.1185-48G>A|||||| 22 44067871 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|15/32|c.1622C>T|p.Thr541Met|1936/4929|1622/4506|541/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|13/30|c.1166C>T|p.Thr389Met|1578/4571|1166/4050|389/1349|| 22 44068081 . A G . . ANN=G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|14/31|c.1479+45T>C||||||,G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|12/29|c.1023+45T>C|||||| 22 44068193 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|13/31|c.1420-8C>T||||||,A|splice_region_variant&intron_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|11/29|c.964-8C>T|||||| 22 44068194 . G T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|13/31|c.1420-9C>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|11/29|c.964-9C>A|||||| 22 44068226 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|13/31|c.1420-41A>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|11/29|c.964-41A>G|||||| 22 44073983 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|13/32|c.1312A>G|p.Lys438Glu|1626/4929|1312/4506|438/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|11/30|c.856A>G|p.Lys286Glu|1268/4571|856/4050|286/1349|| 22 44074021 . C A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|13/32|c.1274G>T|p.Arg425Ile|1588/4929|1274/4506|425/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|11/30|c.818G>T|p.Arg273Ile|1230/4571|818/4050|273/1349|| 22 44074059 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|12/31|c.1252-16A>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|10/29|c.796-16A>G|||||| 22 44074063 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|12/31|c.1252-20A>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|10/29|c.796-20A>G|||||| 22 44074076 . GA G,GAA . . ANN=G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|12/31|c.1252-34delT||||||,GAA|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|12/31|c.1252-35_1252-34insT||||||,G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|10/29|c.796-34delT||||||,GAA|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|10/29|c.796-35_796-34insT|||||| 22 44079645 . T C . . ANN=C|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|12/32|c.1233A>G|p.Ala411Ala|1547/4929|1233/4506|411/1501||,C|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|10/30|c.777A>G|p.Ala259Ala|1189/4571|777/4050|259/1349|| 22 44079660 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|12/32|c.1218G>A|p.Ala406Ala|1532/4929|1218/4506|406/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|10/30|c.762G>A|p.Ala254Ala|1174/4571|762/4050|254/1349|| 22 44079680 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|12/32|c.1198C>T|p.His400Tyr|1512/4929|1198/4506|400/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|10/30|c.742C>T|p.His248Tyr|1154/4571|742/4050|248/1349|| 22 44079728 . A C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|12/32|c.1150T>G|p.Ser384Ala|1464/4929|1150/4506|384/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|10/30|c.694T>G|p.Ser232Ala|1106/4571|694/4050|232/1349|| 22 44083327 . G GT,GTT . . ANN=GT|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|11/31|c.1142+23_1142+24insA||||||,GTT|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|11/31|c.1142+23_1142+24insAA||||||,GT|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|9/29|c.686+23_686+24insA||||||,GTT|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|9/29|c.686+23_686+24insAA|||||| 22 44083330 . T TG . . ANN=TG|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|11/31|c.1142+20_1142+21insC||||||,TG|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|9/29|c.686+20_686+21insC|||||| 22 44083332 . T TTG . . ANN=TTG|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|11/31|c.1142+18_1142+19insCA||||||,TTG|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|9/29|c.686+18_686+19insCA|||||| 22 44083333 . T TG . . ANN=TG|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|11/31|c.1142+17_1142+18insC||||||,TG|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|9/29|c.686+17_686+18insC|||||| 22 44083368 . G T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|11/32|c.1125C>A|p.Pro375Pro|1439/4929|1125/4506|375/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|9/30|c.669C>A|p.Pro223Pro|1081/4571|669/4050|223/1349|| 22 44083418 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|11/32|c.1075C>T|p.Leu359Leu|1389/4929|1075/4506|359/1501||,A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|9/30|c.619C>T|p.Leu207Leu|1031/4571|619/4050|207/1349|| 22 44083442 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|11/32|c.1051A>G|p.Thr351Ala|1365/4929|1051/4506|351/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|9/30|c.595A>G|p.Thr199Ala|1007/4571|595/4050|199/1349|| 22 44083501 . AT A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|10/31|c.1032-41delA||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|8/29|c.576-41delA|||||| 22 44107306 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|10/31|c.1031+49G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|8/29|c.575+49G>A|||||| 22 44107329 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|10/31|c.1031+26A>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|8/29|c.575+26A>G|||||| 22 44107407 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|10/32|c.979G>A|p.Asp327Asn|1293/4929|979/4506|327/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|8/30|c.523G>A|p.Asp175Asn|935/4571|523/4050|175/1349|| 22 44107471 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|10/32|c.915C>T|p.Ala305Ala|1229/4929|915/4506|305/1501||,A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|8/30|c.459C>T|p.Ala153Ala|871/4571|459/4050|153/1349|| 22 44107498 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|10/32|c.888G>A|p.Ser296Ser|1202/4929|888/4506|296/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|8/30|c.432G>A|p.Ser144Ser|844/4571|432/4050|144/1349|| 22 44107499 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|10/32|c.887C>T|p.Ser296Leu|1201/4929|887/4506|296/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|8/30|c.431C>T|p.Ser144Leu|843/4571|431/4050|144/1349|| 22 44112807 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|9/32|c.803G>A|p.Arg268His|1117/4929|803/4506|268/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|7/30|c.347G>A|p.Arg116His|759/4571|347/4050|116/1349|| 22 44112845 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|9/32|c.765G>A|p.Ser255Ser|1079/4929|765/4506|255/1501||,T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|7/30|c.309G>A|p.Ser103Ser|721/4571|309/4050|103/1349|| 22 44112846 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|9/32|c.764C>T|p.Ser255Leu|1078/4929|764/4506|255/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|7/30|c.308C>T|p.Ser103Leu|720/4571|308/4050|103/1349|| 22 44127543 . T C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|8/31|c.757+36A>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|6/29|c.301+36A>G|||||| 22 44127629 . T G . . ANN=G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|8/32|c.707A>C|p.Asn236Thr|1021/4929|707/4506|236/1501||,G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|6/30|c.251A>C|p.Asn84Thr|663/4571|251/4050|84/1349|| 22 44127643 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|8/32|c.693C>T|p.Asn231Asn|1007/4929|693/4506|231/1501||,A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|6/30|c.237C>T|p.Asn79Asn|649/4571|237/4050|79/1349|| 22 44131776 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|7/32|c.605A>G|p.Glu202Gly|919/4929|605/4506|202/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|5/30|c.149A>G|p.Glu50Gly|561/4571|149/4050|50/1349|| 22 44131786 . T C . . ANN=C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|7/32|c.595A>G|p.Arg199Gly|909/4929|595/4506|199/1501||,C|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|5/30|c.139A>G|p.Arg47Gly|551/4571|139/4050|47/1349|| 22 44131803 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|7/32|c.578G>A|p.Arg193Gln|892/4929|578/4506|193/1501||,T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|5/30|c.122G>A|p.Arg41Gln|534/4571|122/4050|41/1349|| 22 44131832 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|7/32|c.549C>T|p.Leu183Leu|863/4929|549/4506|183/1501||,A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|5/30|c.93C>T|p.Leu31Leu|505/4571|93/4050|31/1349|| 22 44151656 . A G . . ANN=G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|6/32|c.497T>C|p.Val166Ala|811/4929|497/4506|166/1501||,G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|4/30|c.41T>C|p.Val14Ala|453/4571|41/4050|14/1349|| 22 44151684 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|6/32|c.469C>T|p.Arg157Cys|783/4929|469/4506|157/1501||,A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|4/30|c.13C>T|p.Arg5Cys|425/4571|13/4050|5/1349|| 22 44151721 . TA T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|5/31|c.441-10delT||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|3/29|c.-16-10delT|||||| 22 44161173 . C G . . ANN=G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|5/31|c.440+12G>C||||||,G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|3/29|c.-17+12G>C|||||| 22 44161194 . C T . . ANN=T|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|5/32|c.431G>A|p.Gly144Asp|745/4929|431/4506|144/1501||,T|5_prime_UTR_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|3/30|c.-26G>A|||||9498| 22 44161245 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|5/32|c.380C>T|p.Pro127Leu|694/4929|380/4506|127/1501||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|3/30|c.-77C>T||||||,A|5_prime_UTR_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|3/30|c.-77C>T|||||9549| 22 44161261 . T A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|5/32|c.364A>T|p.Thr122Ser|678/4929|364/4506|122/1501||,A|5_prime_UTR_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|3/30|c.-93A>T|||||9565| 22 44161285 . G C . . ANN=C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|4/31|c.352-12C>G||||||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-12C>G|||||| 22 44168935 . A G . . ANN=G|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|4/32|c.188T>C|p.Ile63Thr|502/4929|188/4506|63/1501||,G|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-7662T>C|||||| 22 44168955 . G A . . ANN=A|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|4/32|c.168C>T|p.Ser56Ser|482/4929|168/4506|56/1501||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-7682C>T|||||| 22 44178050 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|3/31|c.139+10C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-16777C>T|||||| 22 44178103 . T C . . ANN=C|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|3/32|c.96A>G|p.Val32Val|410/4929|96/4506|32/1501||,C|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-16830A>G|||||| 22 44178160 . C T . . ANN=T|synonymous_variant|LOW|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|3/32|c.39G>A|p.Ser13Ser|353/4929|39/4506|13/1501||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-16887G>A|||||| 22 44178161 . G A . . ANN=A|missense_variant|MODERATE|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|3/32|c.38C>T|p.Ser13Leu|352/4929|38/4506|13/1501||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-16888C>T|||||| 22 44178231 . C T . . ANN=T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|2/31|c.-7-26G>A||||||,T|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-16958G>A|||||| 22 44178232 . G A . . ANN=A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_022785.3|Coding|2/31|c.-7-27C>T||||||,A|intron_variant|MODIFIER|EFCAB6|EFCAB6|transcript|NM_198856.2|Coding|2/29|c.-105-16959C>T|||||| 22 44221971 . G A . . ANN=A|synonymous_variant|LOW|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|7/7|c.765C>T|p.Asp255Asp|881/2465|765/855|255/284|| 22 44222001 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|6/6|c.743-8C>T|||||| 22 44222036 . G A . . ANN=A|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|6/6|c.743-43C>T|||||| 22 44224917 . G A . . ANN=A|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|6/6|c.742+23C>T|||||| 22 44225073 . C A . . ANN=A|synonymous_variant|LOW|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|6/7|c.609G>T|p.Leu203Leu|725/2465|609/855|203/284|| 22 44229492 . G C . . ANN=C|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|5/6|c.603+28C>G|||||| 22 44229508 . G A . . ANN=A|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|5/6|c.603+12C>T|||||| 22 44234713 . C T . . ANN=T|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|4/6|c.508+34G>A|||||| 22 44234728 . G T . . ANN=T|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|4/6|c.508+19C>A|||||| 22 44234737 . C T . . ANN=T|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|4/6|c.508+10G>A|||||| 22 44235819 . G GCTTA . . ANN=GCTTA|splice_region_variant&intron_variant|LOW|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|3/6|c.381+5_381+6insTAAG|||||| 22 44237662 . G A . . ANN=A|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|2/6|c.300+20C>T|||||| 22 44237700 . C T . . ANN=T|synonymous_variant|LOW|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|2/7|c.282G>A|p.Pro94Pro|398/2465|282/855|94/284|| 22 44237862 . C T . . ANN=T|intron_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|1/6|c.170-50G>A|||||| 22 44258221 . C T . . ANN=T|synonymous_variant|LOW|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|1/7|c.42G>A|p.Glu14Glu|158/2465|42/855|14/284|| 22 44258283 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|SULT4A1|SULT4A1|transcript|NM_014351.3|Coding|1/7|c.-21G>A|||||21| 22 44276760 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|9/9|c.1205C>T|p.Pro402Leu|1338/2540|1205/1290|402/429||,A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|7/7|c.863C>T|p.Pro288Leu|996/2198|863/948|288/315|| 22 44276788 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|8/8|c.1200-23C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|6/6|c.858-23C>T|||||| 22 44276807 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|8/8|c.1200-42C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|6/6|c.858-42C>T|||||| 22 44277398 . CA C . . ANN=C|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|8/8|c.1199+39delT||||||,C|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|6/6|c.857+39delT|||||| 22 44277406 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|8/8|c.1199+32G>A||||||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|6/6|c.857+32G>A|||||| 22 44277512 . C G . . ANN=G|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|8/9|c.1125G>C|p.Trp375Cys|1258/2540|1125/1290|375/429||,G|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|6/7|c.783G>C|p.Trp261Cys|916/2198|783/948|261/315|| 22 44277559 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|7/8|c.1083-5T>A||||||,T|splice_region_variant&intron_variant|LOW|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|5/6|c.741-5T>A|||||| 22 44280049 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|7/8|c.1082+44G>A||||||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|5/6|c.740+44G>A|||||| 22 44280050 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|7/8|c.1082+43C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|5/6|c.740+43C>T|||||| 22 44280057 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|7/8|c.1082+36C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|5/6|c.740+36C>T|||||| 22 44280076 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|7/8|c.1082+17G>A||||||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|5/6|c.740+17G>A|||||| 22 44280184 . G C . . ANN=C|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|7/9|c.991C>G|p.Arg331Gly|1124/2540|991/1290|331/429||,C|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|5/7|c.649C>G|p.Arg217Gly|782/2198|649/948|217/315|| 22 44280226 . C T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|6/8|c.950-1G>A||||||,T|splice_acceptor_variant&intron_variant|HIGH|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|4/6|c.608-1G>A||||||;LOF=(PNPLA5|PNPLA5|2|1.00) 22 44280250 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|6/8|c.950-25G>A||||||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|4/6|c.608-25G>A|||||| 22 44282177 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|6/8|c.949+6G>T||||||,A|splice_region_variant&intron_variant|LOW|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|4/6|c.607+6G>T|||||| 22 44282276 . A G . . ANN=G|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|6/9|c.856T>C|p.Trp286Arg|989/2540|856/1290|286/429||,G|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|4/7|c.514T>C|p.Trp172Arg|647/2198|514/948|172/315|| 22 44282278 . C T . . ANN=T|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|6/9|c.854G>A|p.Arg285His|987/2540|854/1290|285/429||,T|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|4/7|c.512G>A|p.Arg171His|645/2198|512/948|171/315|| 22 44282280 . T C . . ANN=C|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|6/9|c.852A>G|p.Gln284Gln|985/2540|852/1290|284/429||,C|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|4/7|c.510A>G|p.Gln170Gln|643/2198|510/948|170/315|| 22 44282307 . G A . . ANN=A|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|6/9|c.825C>T|p.Asp275Asp|958/2540|825/1290|275/429||,A|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|4/7|c.483C>T|p.Asp161Asp|616/2198|483/948|161/315|| 22 44282388 . A T . . ANN=T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|5/8|c.764-20T>A||||||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|3/6|c.422-20T>A|||||| 22 44283440 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|5/8|c.763+31C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|3/6|c.421+31C>T|||||| 22 44283556 . A G . . ANN=G|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|4/8|c.707-29T>C||||||,G|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|2/6|c.365-29T>C|||||| 22 44285258 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|4/9|c.653C>T|p.Thr218Ile|786/2540|653/1290|218/429||,A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|2/7|c.311C>T|p.Thr104Ile|444/2198|311/948|104/315|| 22 44285272 . G A . . ANN=A|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|4/9|c.639C>T|p.Ser213Ser|772/2540|639/1290|213/429||,A|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|2/7|c.297C>T|p.Ser99Ser|430/2198|297/948|99/315|| 22 44285312 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|4/9|c.599C>T|p.Thr200Ile|732/2540|599/1290|200/429||,A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|2/7|c.257C>T|p.Thr86Ile|390/2198|257/948|86/315|| 22 44285348 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|4/9|c.563C>T|p.Pro188Leu|696/2540|563/1290|188/429||,A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|2/7|c.221C>T|p.Pro74Leu|354/2198|221/948|74/315|| 22 44285418 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|4/9|c.493C>T|p.Arg165Cys|626/2540|493/1290|165/429||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.194-43C>T|||||| 22 44285428 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|3/8|c.493-10C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.194-53C>T|||||| 22 44285639 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|3/8|c.492+40C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.194-264C>T|||||| 22 44285658 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|3/8|c.492+21C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.194-283C>T|||||| 22 44285667 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|3/8|c.492+12C>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.194-292C>T|||||| 22 44285693 . C T . . ANN=T|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|3/9|c.478G>A|p.Glu160Lys|611/2540|478/1290|160/429||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.194-318G>A|||||| 22 44285723 . A G . . ANN=G|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|3/9|c.448T>C|p.Phe150Leu|581/2540|448/1290|150/429||,G|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.194-348T>C|||||| 22 44285765 . A G . . ANN=G|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/8|c.427-21T>C||||||,G|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.194-390T>C|||||| 22 44286916 . A G . . ANN=G|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/8|c.426+26T>C||||||,G|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+652T>C|||||| 22 44286930 . C A . . ANN=A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/8|c.426+12G>T||||||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+638G>T|||||| 22 44286950 . G A . . ANN=A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/9|c.418C>T|p.Leu140Phe|551/2540|418/1290|140/429||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+618C>T|||||| 22 44286956 . C T . . ANN=T|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/9|c.412G>A|p.Asp138Asn|545/2540|412/1290|138/429||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+612G>A|||||| 22 44287062 . A G . . ANN=G|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/9|c.306T>C|p.Asp102Asp|439/2540|306/1290|102/429||,G|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+506T>C|||||| 22 44287073 . G A . . ANN=A|stop_gained|HIGH|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/9|c.295C>T|p.Gln99*|428/2540|295/1290|99/429||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+495C>T||||||;LOF=(PNPLA5|PNPLA5|2|0.50);NMD=(PNPLA5|PNPLA5|2|0.50) 22 44287074 . C T . . ANN=T|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/9|c.294G>A|p.Gln98Gln|427/2540|294/1290|98/429||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+494G>A|||||| 22 44287165 . C A . . ANN=A|missense_variant|MODERATE|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|2/9|c.203G>T|p.Cys68Phe|336/2540|203/1290|68/429||,A|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+403G>T|||||| 22 44287207 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|1/8|c.194-33G>A||||||,T|intron_variant|MODIFIER|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/6|c.193+361G>A|||||| 22 44287629 . G A . . ANN=A|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|1/9|c.132C>T|p.Arg44Arg|265/2540|132/1290|44/429||,A|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/7|c.132C>T|p.Arg44Arg|265/2198|132/948|44/315|| 22 44287698 . G T . . ANN=T|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_138814.3|Coding|1/9|c.63C>A|p.Gly21Gly|196/2540|63/1290|21/429||,T|synonymous_variant|LOW|PNPLA5|PNPLA5|transcript|NM_001177675.1|Coding|1/7|c.63C>A|p.Gly21Gly|196/2198|63/948|21/315|| 22 44319752 . C G . . ANN=G|5_prime_UTR_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|1/9|c.-40C>G|||||40| 22 44319777 . CCCG C . . ANN=|5_prime_UTR_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|1/9|c.-3_-1delGCC|||||1|INFO_REALIGN_3_PRIME 22 44319951 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|1/9|c.160G>A|p.Val54Ile|333/2805|160/1446|54/481|| 22 44319990 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|1/8|c.187+12G>A|||||| 22 44322766 . A G . . ANN=G|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|1/8|c.188-49A>G|||||| 22 44322843 . T C . . ANN=C|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/9|c.216T>C|p.Leu72Leu|389/2805|216/1446|72/481|| 22 44322862 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/9|c.235C>T|p.Arg79Trp|408/2805|235/1446|79/481|| 22 44322913 . C T . . ANN=T|stop_gained|HIGH|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/9|c.286C>T|p.Gln96*|459/2805|286/1446|96/481||;LOF=(PNPLA3|PNPLA3|1|1.00);NMD=(PNPLA3|PNPLA3|1|1.00) 22 44322922 . T G . . ANN=G|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/9|c.295T>G|p.Cys99Gly|468/2805|295/1446|99/481|| 22 44322936 . G A . . ANN=A|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/9|c.309G>A|p.Pro103Pro|482/2805|309/1446|103/481|| 22 44322970 . G T . . ANN=T|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/9|c.343G>T|p.Gly115Cys|516/2805|343/1446|115/481|| 22 44322978 . T G . . ANN=G|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/9|c.351T>G|p.Ser117Ser|524/2805|351/1446|117/481|| 22 44323070 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/8|c.420+23C>T|||||| 22 44323074 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/8|c.420+27G>A|||||| 22 44323084 . A C . . ANN=C|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/8|c.420+37A>C|||||| 22 44324676 . A G . . ANN=G|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|2/8|c.421-28A>G|||||| 22 44324727 . C G . . ANN=G|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|3/9|c.444C>G|p.Ile148Met|617/2805|444/1446|148/481|| 22 44324730 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|3/9|c.447C>T|p.Pro149Pro|620/2805|447/1446|149/481|| 22 44328730 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|3/8|c.487-28G>A|||||| 22 44328737 . CT C . . ANN=C|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|3/8|c.487-20delT|||||| 22 44328742 . TC T . . ANN=T|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|3/8|c.487-15delC|||||| 22 44328798 . T C . . ANN=C|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/9|c.527T>C|p.Ile176Thr|700/2805|527/1446|176/481|| 22 44328821 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/9|c.550G>A|p.Val184Met|723/2805|550/1446|184/481|| 22 44328832 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/9|c.561C>T|p.Phe187Phe|734/2805|561/1446|187/481|| 22 44328870 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/9|c.599C>T|p.Thr200Met|772/2805|599/1446|200/481|| 22 44328930 . A G . . ANN=G|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/9|c.659A>G|p.Tyr220Cys|832/2805|659/1446|220/481|| 22 44328939 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/9|c.668C>T|p.Ser223Leu|841/2805|668/1446|223/481|| 22 44328950 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/9|c.679G>A|p.Val227Ile|852/2805|679/1446|227/481|| 22 44330464 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/8|c.697-22C>T|||||| 22 44330474 . C G . . ANN=G|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/8|c.697-12C>G|||||| 22 44330481 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|4/8|c.697-5C>A|||||| 22 44330574 . T C . . ANN=C|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|5/8|c.757+28T>C|||||| 22 44332888 . T TC . . ANN=TC|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|5/8|c.758-43_758-42insC|||||| 22 44332889 . C CA . . ANN=CA|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|5/8|c.758-42_758-41insA|||||| 22 44332890 . C CA . . ANN=CA|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|5/8|c.758-41_758-40insA|||||| 22 44332891 . C CA . . ANN=CA|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|5/8|c.758-40_758-39insA|||||| 22 44332897 . C G . . ANN=G|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|5/8|c.758-34C>G|||||| 22 44332922 . C A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|5/8|c.758-9C>A|||||| 22 44332974 . A C . . ANN=C|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/9|c.801A>C|p.Glu267Asp|974/2805|801/1446|267/481|| 22 44333034 . G A . . ANN=A|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/9|c.861G>A|p.Pro287Pro|1034/2805|861/1446|287/481|| 22 44333039 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/9|c.866C>T|p.Ser289Leu|1039/2805|866/1446|289/481|| 22 44333046 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/9|c.873C>T|p.Ala291Ala|1046/2805|873/1446|291/481|| 22 44333131 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/9|c.958C>T|p.Leu320Phe|1131/2805|958/1446|320/481|| 22 44333145 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/9|c.972C>T|p.Leu324Leu|1145/2805|972/1446|324/481|| 22 44333146 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/9|c.973G>A|p.Ala325Thr|1146/2805|973/1446|325/481|| 22 44333166 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/8|c.979+14G>A|||||| 22 44333172 . A G . . ANN=G|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/8|c.979+20A>G|||||| 22 44333179 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/8|c.979+27G>A|||||| 22 44335858 . A C . . ANN=C|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|6/8|c.980-15A>C|||||| 22 44335885 . A G . . ANN=G|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|7/9|c.992A>G|p.Glu331Gly|1165/2805|992/1446|331/481|| 22 44335962 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|7/9|c.1069C>T|p.Pro357Ser|1242/2805|1069/1446|357/481|| 22 44336019 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|7/8|c.1112+14G>A|||||| 22 44336023 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|7/8|c.1112+18C>T|||||| 22 44336030 . T A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|7/8|c.1112+25T>A|||||| 22 44340532 . C A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|7/8|c.1113-39C>A|||||| 22 44340560 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|7/8|c.1113-11C>T|||||| 22 44340602 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/9|c.1144G>A|p.Asp382Asn|1317/2805|1144/1446|382/481|| 22 44340640 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/9|c.1182C>T|p.Phe394Phe|1355/2805|1182/1446|394/481|| 22 44340642 . C G . . ANN=G|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/9|c.1184C>G|p.Thr395Ser|1357/2805|1184/1446|395/481|| 22 44340667 . C T . . ANN=T|synonymous_variant|LOW|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/9|c.1209C>T|p.Pro403Pro|1382/2805|1209/1446|403/481|| 22 44340702 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/8|c.1217+27G>A|||||| 22 44341986 . T C . . ANN=C|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/8|c.1218-48T>C|||||| 22 44341994 . C T . . ANN=T|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/8|c.1218-40C>T|||||| 22 44342001 . G A . . ANN=A|intron_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/8|c.1218-33G>A|||||| 22 44342033 . G A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|8/8|c.1218-1G>A||||||;LOF=(PNPLA3|PNPLA3|1|1.00) 22 44342038 . C A . . ANN=A|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|9/9|c.1222C>A|p.Gln408Lys|1395/2805|1222/1446|408/481|| 22 44342116 . A G . . ANN=G|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|9/9|c.1300A>G|p.Lys434Glu|1473/2805|1300/1446|434/481|| 22 44342146 . G A . . ANN=A|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|9/9|c.1330G>A|p.Ala444Thr|1503/2805|1330/1446|444/481|| 22 44342153 . C T . . ANN=T|missense_variant|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|9/9|c.1337C>T|p.Pro446Leu|1510/2805|1337/1446|446/481|| 22 44342180 . ACTT A . . ANN=|disruptive_inframe_deletion|MODERATE|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|9/9|c.1371_1373delCTT|p.Phe457del|1544/2805|1371/1446|457/481||INFO_REALIGN_3_PRIME 22 44342269 . TGAG T . . ANN=|3_prime_UTR_variant|MODIFIER|PNPLA3|PNPLA3|transcript|NM_025225.2|Coding|9/9|c.*12_*14delAGG|||||12|INFO_REALIGN_3_PRIME 22 44359149 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|1/14|c.22-17C>T|||||| 22 44359151 . C G . . ANN=G|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|1/14|c.22-15C>G|||||| 22 44359218 . AAGC A . . ANN=A|disruptive_inframe_deletion|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|2/15|c.75_77delAGC|p.Glu25_Ala26delinsAsp|272/1756|75/1410|25/469|| 22 44359246 . A G . . ANN=G|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|2/15|c.102A>G|p.Glu34Glu|299/1756|102/1410|34/469|| 22 44359313 . G T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|2/14|c.132+37G>T|||||| 22 44360335 . G A . . ANN=A|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|3/15|c.136G>A|p.Val46Ile|333/1756|136/1410|46/469|| 22 44364594 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|3/14|c.235-17C>T|||||| 22 44364596 . T C . . ANN=C|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|3/14|c.235-15T>C|||||| 22 44364651 . G A . . ANN=A|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|4/15|c.275G>A|p.Arg92His|472/1756|275/1410|92/469|| 22 44364708 . G T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|4/14|c.322+10G>T|||||| 22 44368122 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|5/15|c.329A>G|p.Asp110Gly|526/1756|329/1410|110/469|| 22 44368133 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|5/15|c.340A>G|p.Asn114Asp|537/1756|340/1410|114/469|| 22 44368144 . C A . . ANN=A|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|5/15|c.351C>A|p.Asp117Glu|548/1756|351/1410|117/469|| 22 44368179 . C T . . ANN=T|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|5/15|c.386C>T|p.Thr129Met|583/1756|386/1410|129/469|| 22 44368204 . A G . . ANN=G|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|5/15|c.411A>G|p.Gly137Gly|608/1756|411/1410|137/469|| 22 44368728 . A AT . . ANN=AT|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|5/14|c.430-23_430-22insT|||||| 22 44368740 . TC T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|5/14|c.430-10delC|||||| 22 44368741 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|5/14|c.430-10C>T|||||| 22 44368865 . G A . . ANN=A|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|6/15|c.544G>A|p.Gly182Arg|741/1756|544/1410|182/469|| 22 44368902 . T C . . ANN=C|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|6/14|c.560+21T>C|||||| 22 44368906 . G GTACAC . . ANN=GTACAC|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|6/14|c.560+25_560+26insTACAC|||||| 22 44369176 . G A . . ANN=A|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|7/15|c.621G>A|p.Thr207Thr|818/1756|621/1410|207/469|| 22 44369237 . G A . . ANN=A|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|7/14|c.648+34G>A|||||| 22 44371906 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|7/14|c.649-29C>T|||||| 22 44371941 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|8/15|c.655A>G|p.Ile219Val|852/1756|655/1410|219/469|| 22 44372008 . C T . . ANN=T|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|8/15|c.722C>T|p.Thr241Met|919/1756|722/1410|241/469|| 22 44372069 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|8/14|c.777+6G>A|||||| 22 44372632 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|9/15|c.780C>T|p.His260His|977/1756|780/1410|260/469|| 22 44372652 . G A . . ANN=A|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|9/15|c.800G>A|p.Arg267Gln|997/1756|800/1410|267/469|| 22 44372730 . A G . . ANN=G|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|9/14|c.849+29A>G|||||| 22 44373711 . G A . . ANN=A|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|9/14|c.850-41G>A|||||| 22 44373744 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|9/14|c.850-8C>T|||||| 22 44373766 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|10/15|c.864C>T|p.Tyr288Tyr|1061/1756|864/1410|288/469|| 22 44373820 . G A . . ANN=A|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|10/15|c.918G>A|p.Lys306Lys|1115/1756|918/1410|306/469|| 22 44377221 . G T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|10/14|c.937-50G>T|||||| 22 44377315 . T C . . ANN=C|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|11/15|c.981T>C|p.Gly327Gly|1178/1756|981/1410|327/469|| 22 44377391 . CT C . . ANN=C|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|11/14|c.1007+51delT|||||| 22 44379822 . T C . . ANN=C|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|12/15|c.1017T>C|p.Leu339Leu|1214/1756|1017/1410|339/469|| 22 44379837 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|12/15|c.1032C>T|p.Ser344Ser|1229/1756|1032/1410|344/469|| 22 44379838 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|12/15|c.1033A>G|p.Ile345Val|1230/1756|1033/1410|345/469|| 22 44379889 . T G . . ANN=G|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|12/14|c.1075+9T>G|||||| 22 44379902 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|12/14|c.1075+22C>T|||||| 22 44379923 . G A . . ANN=A|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|12/14|c.1075+43G>A|||||| 22 44385028 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|13/15|c.1113C>T|p.Gly371Gly|1310/1756|1113/1410|371/469|| 22 44385109 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|13/15|c.1194C>T|p.Asn398Asn|1391/1756|1194/1410|398/469|| 22 44385148 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|13/14|c.1222+11C>T|||||| 22 44386106 . CG C . . ANN=C|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|13/14|c.1223-38delG|||||| 22 44386173 . G A . . ANN=A|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|14/15|c.1251G>A|p.Lys417Lys|1448/1756|1251/1410|417/469|| 22 44386199 . A G . . ANN=G|missense_variant|MODERATE|SAMM50|SAMM50|transcript|NM_015380.4|Coding|14/15|c.1277A>G|p.Tyr426Cys|1474/1756|1277/1410|426/469|| 22 44386257 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|14/15|c.1335C>T|p.Cys445Cys|1532/1756|1335/1410|445/469|| 22 44386281 . C T . . ANN=T|synonymous_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|14/15|c.1359C>T|p.Gly453Gly|1556/1756|1359/1410|453/469|| 22 44386289 . A ACGTGTTGGGAATTATT . . ANN=ACGTGTTGGGAATTATT|splice_region_variant&intron_variant|LOW|SAMM50|SAMM50|transcript|NM_015380.4|Coding|14/14|c.1364+3_1364+4insCGTGTTGGGAATTATT|||||| 22 44392169 . G C . . ANN=C|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|14/14|c.1365-49G>C|||||| 22 44392187 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|14/14|c.1365-31C>T|||||| 22 44392207 . C T . . ANN=T|intron_variant|MODIFIER|SAMM50|SAMM50|transcript|NM_015380.4|Coding|14/14|c.1365-11C>T|||||| 22 44395212 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|1/14|c.-9T>C|||||9| 22 44395283 . C G . . ANN=G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|1/14|c.63C>G|p.Asn21Lys|193/1878|63/1194|21/397|| 22 44395429 . G T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|2/14|c.87G>T|p.Leu29Leu|217/1878|87/1194|29/397|| 22 44395434 . G A . . ANN=A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|2/14|c.92G>A|p.Arg31His|222/1878|92/1194|31/397|| 22 44395451 . T C . . ANN=C|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|2/14|c.109T>C|p.Trp37Arg|239/1878|109/1194|37/397|| 22 44395540 . T C . . ANN=C|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|2/14|c.198T>C|p.Tyr66Tyr|328/1878|198/1194|66/397|| 22 44489815 . C A . . ANN=A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|3/14|c.219C>A|p.Asp73Glu|349/1878|219/1194|73/397||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|2/13|c.120C>A|p.Asp40Glu|183/1712|120/1095|40/364||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|2/13|c.9C>A|p.Asp3Glu|54/1583|9/984|3/327||,A|5_prime_UTR_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/12|c.-37C>A|||||37| 22 44489850 . C G,T . . ANN=G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|3/14|c.254C>G|p.Pro85Arg|384/1878|254/1194|85/397||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|3/14|c.254C>T|p.Pro85Leu|384/1878|254/1194|85/397||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|2/13|c.155C>G|p.Pro52Arg|218/1712|155/1095|52/364||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|2/13|c.155C>T|p.Pro52Leu|218/1712|155/1095|52/364||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|2/13|c.44C>G|p.Pro15Arg|89/1583|44/984|15/327||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|2/13|c.44C>T|p.Pro15Leu|89/1583|44/984|15/327||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/12|c.-2C>T||||||,G|5_prime_UTR_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/12|c.-2C>G|||||2|,T|5_prime_UTR_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/12|c.-2C>T|||||2| 22 44489868 . T C . . ANN=C|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|3/14|c.272T>C|p.Val91Ala|402/1878|272/1194|91/397||,C|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|2/13|c.173T>C|p.Val58Ala|236/1712|173/1095|58/364||,C|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/12|c.17T>C|p.Val6Ala|134/1541|17/870|6/289||,C|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|2/13|c.62T>C|p.Val21Ala|107/1583|62/984|21/327|| 22 44489871 . A T . . ANN=T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|3/14|c.275A>T|p.Asp92Val|405/1878|275/1194|92/397||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|2/13|c.176A>T|p.Asp59Val|239/1712|176/1095|59/364||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/12|c.20A>T|p.Asp7Val|137/1541|20/870|7/289||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|2/13|c.65A>T|p.Asp22Val|110/1583|65/984|22/327|| 22 44489896 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|3/14|c.300T>C|p.Leu100Leu|430/1878|300/1194|100/397||,C|splice_region_variant&synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|2/13|c.201T>C|p.Leu67Leu|264/1712|201/1095|67/364||,C|splice_region_variant&synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/12|c.45T>C|p.Leu15Leu|162/1541|45/870|15/289||,C|splice_region_variant&synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|2/13|c.90T>C|p.Leu30Leu|135/1583|90/984|30/327|| 22 44489942 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|3/13|c.301+45C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|2/12|c.202+45C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/11|c.46+45C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|2/12|c.91+45C>T|||||| 22 44495908 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|3/13|c.302-25C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|2/12|c.203-25C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|2/11|c.47-25C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|2/12|c.92-25C>T|||||| 22 44495940 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|4/14|c.309C>T|p.Asn103Asn|439/1878|309/1194|103/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|3/13|c.210C>T|p.Asn70Asn|273/1712|210/1095|70/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|3/12|c.54C>T|p.Asn18Asn|171/1541|54/870|18/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|3/13|c.99C>T|p.Asn33Asn|144/1583|99/984|33/327|| 22 44495951 . C G,T . . ANN=G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|4/14|c.320C>G|p.Thr107Arg|450/1878|320/1194|107/397||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|4/14|c.320C>T|p.Thr107Met|450/1878|320/1194|107/397||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|3/13|c.221C>G|p.Thr74Arg|284/1712|221/1095|74/364||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|3/13|c.221C>T|p.Thr74Met|284/1712|221/1095|74/364||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|3/12|c.65C>G|p.Thr22Arg|182/1541|65/870|22/289||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|3/12|c.65C>T|p.Thr22Met|182/1541|65/870|22/289||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|3/13|c.110C>G|p.Thr37Arg|155/1583|110/984|37/327||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|3/13|c.110C>T|p.Thr37Met|155/1583|110/984|37/327|| 22 44495952 . G C . . ANN=C|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|4/14|c.321G>C|p.Thr107Thr|451/1878|321/1194|107/397||,C|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|3/13|c.222G>C|p.Thr74Thr|285/1712|222/1095|74/364||,C|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|3/12|c.66G>C|p.Thr22Thr|183/1541|66/870|22/289||,C|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|3/13|c.111G>C|p.Thr37Thr|156/1583|111/984|37/327|| 22 44495953 . A G . . ANN=G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|4/14|c.322A>G|p.Met108Val|452/1878|322/1194|108/397||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|3/13|c.223A>G|p.Met75Val|286/1712|223/1095|75/364||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|3/12|c.67A>G|p.Met23Val|184/1541|67/870|23/289||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|3/13|c.112A>G|p.Met38Val|157/1583|112/984|38/327|| 22 44495983 . A G . . ANN=G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|4/14|c.352A>G|p.Lys118Glu|482/1878|352/1194|118/397||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|3/13|c.253A>G|p.Lys85Glu|316/1712|253/1095|85/364||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|3/12|c.97A>G|p.Lys33Glu|214/1541|97/870|33/289||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|3/13|c.142A>G|p.Lys48Glu|187/1583|142/984|48/327|| 22 44496016 . G A . . ANN=A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|4/13|c.372+13G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|3/12|c.273+13G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|3/11|c.117+13G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|3/12|c.162+13G>A|||||| 22 44496043 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|4/13|c.372+40C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|3/12|c.273+40C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|3/11|c.117+40C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|3/12|c.162+40C>T|||||| 22 44514941 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|5/14|c.396C>T|p.Asp132Asp|526/1878|396/1194|132/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|4/13|c.297C>T|p.Asp99Asp|360/1712|297/1095|99/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|4/12|c.141C>T|p.Asp47Asp|258/1541|141/870|47/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|4/13|c.186C>T|p.Asp62Asp|231/1583|186/984|62/327|| 22 44514974 . G T . . ANN=T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|5/14|c.429G>T|p.Gln143His|559/1878|429/1194|143/397||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|4/13|c.330G>T|p.Gln110His|393/1712|330/1095|110/364||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|4/12|c.174G>T|p.Gln58His|291/1541|174/870|58/289||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|4/13|c.219G>T|p.Gln73His|264/1583|219/984|73/327|| 22 44514995 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|5/14|c.450C>T|p.Asp150Asp|580/1878|450/1194|150/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|4/13|c.351C>T|p.Asp117Asp|414/1712|351/1095|117/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|4/12|c.195C>T|p.Asp65Asp|312/1541|195/870|65/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|4/13|c.240C>T|p.Asp80Asp|285/1583|240/984|80/327|| 22 44527414 . G A . . ANN=A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|6/14|c.523G>A|p.Glu175Lys|653/1878|523/1194|175/397||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|5/13|c.424G>A|p.Glu142Lys|487/1712|424/1095|142/364||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|5/12|c.268G>A|p.Glu90Lys|385/1541|268/870|90/289||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|5/13|c.313G>A|p.Glu105Lys|358/1583|313/984|105/327|| 22 44527489 . C T . . ANN=T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|6/14|c.598C>T|p.Leu200Phe|728/1878|598/1194|200/397||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|5/13|c.499C>T|p.Leu167Phe|562/1712|499/1095|167/364||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|5/12|c.343C>T|p.Leu115Phe|460/1541|343/870|115/289||,T|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|5/13|c.388C>T|p.Leu130Phe|433/1583|388/984|130/327|| 22 44527548 . G A . . ANN=A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|6/13|c.616+41G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|5/12|c.517+41G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|5/11|c.361+41G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|5/12|c.406+41G>A|||||| 22 44527551 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|6/13|c.616+44C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|5/12|c.517+44C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|5/11|c.361+44C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|5/12|c.406+44C>T|||||| 22 44528736 . CT C . . ANN=C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|6/13|c.617-37delT||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|5/12|c.518-37delT||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|5/11|c.362-37delT||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|5/12|c.407-37delT|||||| 22 44528781 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|7/14|c.624C>T|p.His208His|754/1878|624/1194|208/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|6/13|c.525C>T|p.His175His|588/1712|525/1095|175/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|6/12|c.369C>T|p.His123His|486/1541|369/870|123/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|6/13|c.414C>T|p.His138His|459/1583|414/984|138/327|| 22 44528826 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|7/14|c.669C>T|p.Ala223Ala|799/1878|669/1194|223/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|6/13|c.570C>T|p.Ala190Ala|633/1712|570/1095|190/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|6/12|c.414C>T|p.Ala138Ala|531/1541|414/870|138/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|6/13|c.459C>T|p.Ala153Ala|504/1583|459/984|153/327|| 22 44532306 . G A . . ANN=A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|7/13|c.733-34G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|6/12|c.634-34G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|6/11|c.478-34G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|6/12|c.523-34G>A|||||| 22 44532421 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|8/13|c.791+23C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|7/12|c.692+23C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|7/11|c.536+23C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|7/12|c.581+23C>T|||||| 22 44532430 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|8/13|c.791+32C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|7/12|c.692+32C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|7/11|c.536+32C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|7/12|c.581+32C>T|||||| 22 44535956 . T C . . ANN=C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|8/13|c.792-48T>C||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|7/12|c.693-48T>C||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|7/11|c.537-48T>C||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|7/12|c.582-48T>C|||||| 22 44536003 . G T . . ANN=T|splice_acceptor_variant&intron_variant|HIGH|PARVB|PARVB|transcript|NM_001003828.2|Coding|8/13|c.792-1G>T||||||,T|splice_acceptor_variant&intron_variant|HIGH|PARVB|PARVB|transcript|NM_013327.4|Coding|7/12|c.693-1G>T||||||,T|splice_acceptor_variant&intron_variant|HIGH|PARVB|PARVB|transcript|NM_001243386.1|Coding|7/11|c.537-1G>T||||||,T|splice_acceptor_variant&intron_variant|HIGH|PARVB|PARVB|transcript|NM_001243385.1|Coding|7/12|c.582-1G>T||||||;LOF=(PARVB|PARVB|4|1.00) 22 44536017 . C A . . ANN=A|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|9/14|c.805C>A|p.Arg269Arg|935/1878|805/1194|269/397||,A|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|8/13|c.706C>A|p.Arg236Arg|769/1712|706/1095|236/364||,A|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|8/12|c.550C>A|p.Arg184Arg|667/1541|550/870|184/289||,A|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|8/13|c.595C>A|p.Arg199Arg|640/1583|595/984|199/327|| 22 44536045 . G A . . ANN=A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|9/13|c.811+22G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|8/12|c.712+22G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|8/11|c.556+22G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|8/12|c.601+22G>A|||||| 22 44543709 . G A . . ANN=A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|9/13|c.812-32G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|8/12|c.713-32G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|8/11|c.557-32G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|8/12|c.602-32G>A|||||| 22 44543721 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|9/13|c.812-20C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|8/12|c.713-20C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|8/11|c.557-20C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|8/12|c.602-20C>T|||||| 22 44543766 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|10/14|c.837C>T|p.Phe279Phe|967/1878|837/1194|279/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|9/13|c.738C>T|p.Phe246Phe|801/1712|738/1095|246/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|9/12|c.582C>T|p.Phe194Phe|699/1541|582/870|194/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|9/13|c.627C>T|p.Phe209Phe|672/1583|627/984|209/327|| 22 44547322 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|10/13|c.874-41C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|9/12|c.775-41C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|9/11|c.618+3520C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|9/12|c.664-41C>T|||||| 22 44547335 . G A . . ANN=A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|10/13|c.874-28G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|9/12|c.775-28G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|9/11|c.618+3533G>A||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|9/12|c.664-28G>A|||||| 22 44547340 . T C . . ANN=C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|10/13|c.874-23T>C||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|9/12|c.775-23T>C||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|9/11|c.618+3538T>C||||||,C|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|9/12|c.664-23T>C|||||| 22 44547355 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|10/13|c.874-8C>G||||||,G|splice_region_variant&intron_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|9/12|c.775-8C>G||||||,G|splice_region_variant&intron_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|9/12|c.664-8C>G||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|9/11|c.618+3553C>G|||||| 22 44547365 . T G . . ANN=G|splice_region_variant&synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|11/14|c.876T>G|p.Ser292Ser|1006/1878|876/1194|292/397||,G|splice_region_variant&synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|10/13|c.777T>G|p.Ser259Ser|840/1712|777/1095|259/364||,G|splice_region_variant&synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|10/13|c.666T>G|p.Ser222Ser|711/1583|666/984|222/327||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|9/11|c.618+3563T>G|||||| 22 44547418 . A G . . ANN=G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|11/14|c.929A>G|p.Glu310Gly|1059/1878|929/1194|310/397||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|10/13|c.830A>G|p.Glu277Gly|893/1712|830/1095|277/364||,G|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|10/13|c.719A>G|p.Glu240Gly|764/1583|719/984|240/327||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|9/11|c.618+3616A>G|||||| 22 44553852 . T TG . . ANN=TG|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|11/13|c.943-10_943-9insG||||||,TG|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|10/12|c.844-10_844-9insG||||||,TG|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|9/11|c.619-10_619-9insG||||||,TG|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|10/12|c.733-10_733-9insG|||||| 22 44553972 . A G . . ANN=G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|12/13|c.1044+9A>G||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|11/12|c.945+9A>G||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|10/11|c.720+9A>G||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|11/12|c.834+9A>G|||||| 22 44559714 . TG T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|12/13|c.1045-23delG||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|11/12|c.946-23delG||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|10/11|c.721-23delG||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|11/12|c.835-23delG|||||| 22 44559715 . GA G . . ANN=G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|12/13|c.1045-22delA||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|11/12|c.946-22delA||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|10/11|c.721-22delA||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|11/12|c.835-22delA|||||| 22 44559716 . AC A . . ANN=A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|12/13|c.1045-21delC||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|11/12|c.946-21delC||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|10/11|c.721-21delC||||||,A|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|11/12|c.835-21delC|||||| 22 44559753 . T A . . ANN=A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|13/14|c.1060T>A|p.Phe354Ile|1190/1878|1060/1194|354/397||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|12/13|c.961T>A|p.Phe321Ile|1024/1712|961/1095|321/364||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|11/12|c.736T>A|p.Phe246Ile|853/1541|736/870|246/289||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|12/13|c.850T>A|p.Phe284Ile|895/1583|850/984|284/327|| 22 44559755 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|13/14|c.1062C>T|p.Phe354Phe|1192/1878|1062/1194|354/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|12/13|c.963C>T|p.Phe321Phe|1026/1712|963/1095|321/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|11/12|c.738C>T|p.Phe246Phe|855/1541|738/870|246/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|12/13|c.852C>T|p.Phe284Phe|897/1583|852/984|284/327|| 22 44559799 . C A . . ANN=A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001003828.2|Coding|13/14|c.1106C>A|p.Ala369Asp|1236/1878|1106/1194|369/397||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_013327.4|Coding|12/13|c.1007C>A|p.Ala336Asp|1070/1712|1007/1095|336/364||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243386.1|Coding|11/12|c.782C>A|p.Ala261Asp|899/1541|782/870|261/289||,A|missense_variant|MODERATE|PARVB|PARVB|transcript|NM_001243385.1|Coding|12/13|c.896C>A|p.Ala299Asp|941/1583|896/984|299/327|| 22 44559842 . A G . . ANN=G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|13/13|c.1117+32A>G||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|12/12|c.1018+32A>G||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|11/11|c.793+32A>G||||||,G|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|12/12|c.907+32A>G|||||| 22 44559851 . C T . . ANN=T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|13/13|c.1117+41C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|12/12|c.1018+41C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|11/11|c.793+41C>T||||||,T|intron_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|12/12|c.907+41C>T|||||| 22 44564479 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|13/13|c.1118-3C>A||||||,A|splice_region_variant&intron_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|12/12|c.1019-3C>A||||||,A|splice_region_variant&intron_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|11/11|c.794-3C>A||||||,A|splice_region_variant&intron_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|12/12|c.908-3C>A|||||| 22 44564507 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|14/14|c.1143C>T|p.Ser381Ser|1273/1878|1143/1194|381/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|13/13|c.1044C>T|p.Ser348Ser|1107/1712|1044/1095|348/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|12/12|c.819C>T|p.Ser273Ser|936/1541|819/870|273/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|13/13|c.933C>T|p.Ser311Ser|978/1583|933/984|311/327|| 22 44564549 . C T . . ANN=T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001003828.2|Coding|14/14|c.1185C>T|p.Asn395Asn|1315/1878|1185/1194|395/397||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_013327.4|Coding|13/13|c.1086C>T|p.Asn362Asn|1149/1712|1086/1095|362/364||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243386.1|Coding|12/12|c.861C>T|p.Asn287Asn|978/1541|861/870|287/289||,T|synonymous_variant|LOW|PARVB|PARVB|transcript|NM_001243385.1|Coding|13/13|c.975C>T|p.Asn325Asn|1020/1583|975/984|325/327|| 22 44564559 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PARVB|PARVB|transcript|NM_001003828.2|Coding|14/14|c.*1C>T|||||1|,T|3_prime_UTR_variant|MODIFIER|PARVB|PARVB|transcript|NM_013327.4|Coding|13/13|c.*1C>T|||||1|,T|3_prime_UTR_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243386.1|Coding|12/12|c.*1C>T|||||1|,T|3_prime_UTR_variant|MODIFIER|PARVB|PARVB|transcript|NM_001243385.1|Coding|13/13|c.*1C>T|||||1| 22 44579172 . C T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|2/13|c.-12-26C>T||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|2/13|c.-12-26C>T|||||| 22 44579173 . G A . . ANN=A|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|2/13|c.-12-25G>A||||||,A|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|2/13|c.-12-25G>A|||||| 22 44579253 . G C . . ANN=C|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_001137605.2|Coding|3/14|c.44G>C|p.Gly15Ala|468/3463|44/996|15/331||,C|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_022141.6|Coding|3/14|c.44G>C|p.Gly15Ala|528/3523|44/996|15/331|| 22 44579275 . G A . . ANN=A|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|3/14|c.66G>A|p.Glu22Glu|490/3463|66/996|22/331||,A|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|3/14|c.66G>A|p.Glu22Glu|550/3523|66/996|22/331|| 22 44581709 . C T . . ANN=T|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_001137605.2|Coding|4/14|c.101C>T|p.Pro34Leu|525/3463|101/996|34/331||,T|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_022141.6|Coding|4/14|c.101C>T|p.Pro34Leu|585/3523|101/996|34/331|| 22 44583611 . G A . . ANN=A|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|4/13|c.145-45G>A||||||,A|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|4/13|c.145-45G>A|||||| 22 44583631 . A G . . ANN=G|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|4/13|c.145-25A>G||||||,G|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|4/13|c.145-25A>G|||||| 22 44583650 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|4/13|c.145-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|4/13|c.145-6C>T|||||| 22 44583779 . C T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|5/13|c.247+21C>T||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|5/13|c.247+21C>T|||||| 22 44585138 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|6/13|c.388+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|6/13|c.388+4C>T|||||| 22 44586391 . C T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|6/13|c.389-40C>T||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|6/13|c.389-40C>T|||||| 22 44586484 . A G . . ANN=G|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_001137605.2|Coding|7/14|c.442A>G|p.Lys148Glu|866/3463|442/996|148/331||,G|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_022141.6|Coding|7/14|c.442A>G|p.Lys148Glu|926/3523|442/996|148/331|| 22 44586498 . C T . . ANN=T|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|7/14|c.456C>T|p.Pro152Pro|880/3463|456/996|152/331||,T|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|7/14|c.456C>T|p.Pro152Pro|940/3523|456/996|152/331|| 22 44586506 . C G . . ANN=G|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_001137605.2|Coding|7/14|c.464C>G|p.Ser155Cys|888/3463|464/996|155/331||,G|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_022141.6|Coding|7/14|c.464C>G|p.Ser155Cys|948/3523|464/996|155/331|| 22 44586519 . C A . . ANN=A|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_001137605.2|Coding|7/14|c.477C>A|p.Asn159Lys|901/3463|477/996|159/331||,A|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_022141.6|Coding|7/14|c.477C>A|p.Asn159Lys|961/3523|477/996|159/331|| 22 44586522 . C T . . ANN=T|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|7/14|c.480C>T|p.Val160Val|904/3463|480/996|160/331||,T|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|7/14|c.480C>T|p.Val160Val|964/3523|480/996|160/331|| 22 44587906 . TC T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|7/13|c.505-22delC||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|7/13|c.505-22delC|||||| 22 44588028 . G A . . ANN=A|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|8/13|c.560+44G>A||||||,A|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|8/13|c.560+44G>A|||||| 22 44588029 . C T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|8/13|c.560+45C>T||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|8/13|c.560+45C>T|||||| 22 44589693 . C T . . ANN=T|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|9/14|c.573C>T|p.Asp191Asp|997/3463|573/996|191/331||,T|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|9/14|c.573C>T|p.Asp191Asp|1057/3523|573/996|191/331|| 22 44589736 . C T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|9/13|c.583+33C>T||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|9/13|c.583+33C>T|||||| 22 44592191 . C T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|10/13|c.643-36C>T||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|10/13|c.643-36C>T|||||| 22 44592207 . C CCTTGTT . . ANN=CCTTGTT|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|10/13|c.643-20_643-19insCTTGTT||||||,CCTTGTT|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|10/13|c.643-20_643-19insCTTGTT|||||| 22 44594456 . G A . . ANN=A|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|11/13|c.712-45G>A||||||,A|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|11/13|c.712-45G>A|||||| 22 44594476 . T C . . ANN=C|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|11/13|c.712-25T>C||||||,C|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|11/13|c.712-25T>C|||||| 22 44594480 . C T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|11/13|c.712-21C>T||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|11/13|c.712-21C>T|||||| 22 44594535 . G A . . ANN=A|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_001137605.2|Coding|12/14|c.746G>A|p.Gly249Glu|1170/3463|746/996|249/331||,A|missense_variant|MODERATE|PARVG|PARVG|transcript|NM_022141.6|Coding|12/14|c.746G>A|p.Gly249Glu|1230/3523|746/996|249/331|| 22 44594584 . C G . . ANN=G|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|12/14|c.795C>G|p.Pro265Pro|1219/3463|795/996|265/331||,G|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|12/14|c.795C>G|p.Pro265Pro|1279/3523|795/996|265/331|| 22 44601602 . T C . . ANN=C|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|12/13|c.814-35T>C||||||,C|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|12/13|c.814-35T>C|||||| 22 44601734 . C T . . ANN=T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|13/13|c.886+25C>T||||||,T|intron_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|13/13|c.886+25C>T|||||| 22 44602222 . C T . . ANN=T|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|14/14|c.912C>T|p.Ser304Ser|1336/3463|912/996|304/331||,T|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|14/14|c.912C>T|p.Ser304Ser|1396/3523|912/996|304/331|| 22 44602229 . A C . . ANN=C|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|14/14|c.919A>C|p.Arg307Arg|1343/3463|919/996|307/331||,C|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|14/14|c.919A>C|p.Arg307Arg|1403/3523|919/996|307/331|| 22 44602262 . C T . . ANN=T|stop_gained|HIGH|PARVG|PARVG|transcript|NM_001137605.2|Coding|14/14|c.952C>T|p.Gln318*|1376/3463|952/996|318/331||,T|stop_gained|HIGH|PARVG|PARVG|transcript|NM_022141.6|Coding|14/14|c.952C>T|p.Gln318*|1436/3523|952/996|318/331|| 22 44602300 . G A . . ANN=A|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_001137605.2|Coding|14/14|c.990G>A|p.Pro330Pro|1414/3463|990/996|330/331||,A|synonymous_variant|LOW|PARVG|PARVG|transcript|NM_022141.6|Coding|14/14|c.990G>A|p.Pro330Pro|1474/3523|990/996|330/331|| 22 44602313 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PARVG|PARVG|transcript|NM_001137605.2|Coding|14/14|c.*7C>T|||||7|,T|3_prime_UTR_variant|MODIFIER|PARVG|PARVG|transcript|NM_022141.6|Coding|14/14|c.*7C>T|||||7| 22 44645532 . T A . . ANN=A|3_prime_UTR_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|5/5|c.*33A>T|||||33| 22 44645539 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|5/5|c.*26G>C|||||26| 22 44645561 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|5/5|c.*4C>T|||||4| 22 44645575 . A ATACAAGG . . ANN=ATACAAGG|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|4/4|c.600-11_600-10insCCTTGTA|||||| 22 44645582 . GA G . . ANN=G|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|4/4|c.600-18delT|||||| 22 44645593 . TCA T . . ANN=T|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|4/4|c.600-30_600-29delTG|||||| 22 44645598 . T G . . ANN=G|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|4/4|c.600-33A>C|||||| 22 44681317 . G A . . ANN=A|missense_variant|MODERATE|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|4/5|c.590C>T|p.Ser197Leu|723/6741|590/600|197/199|| 22 44681418 . TGGGGCCCGCTGACCCGGCCGA T . . ANN=T|disruptive_inframe_deletion|MODERATE|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|4/5|c.468_488delTCGGCCGGGTCAGCGGGCCCC|p.Arg157_Pro163del|621/6741|468/600|156/199|| 22 44681612 . A G . . ANN=G|synonymous_variant|LOW|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|4/5|c.295T>C|p.Leu99Leu|428/6741|295/600|99/199|| 22 44681613 . G A . . ANN=A|synonymous_variant|LOW|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|4/5|c.294C>T|p.Ala98Ala|427/6741|294/600|98/199|| 22 44681630 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|3/4|c.282-5C>T|||||| 22 44681644 . G T . . ANN=T|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|3/4|c.282-19C>A|||||| 22 44681674 . C T . . ANN=T|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|3/4|c.282-49G>A|||||| 22 44692540 . A G . . ANN=G|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|3/4|c.281+12T>C|||||| 22 44692689 . G T . . ANN=T|synonymous_variant|LOW|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|3/5|c.144C>A|p.Pro48Pro|277/6741|144/600|48/199|| 22 44692780 . C T . . ANN=T|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|2/4|c.68-15G>A|||||| 22 44692800 . C G . . ANN=G|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|2/4|c.68-35G>C|||||| 22 44692815 . G C . . ANN=C|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|2/4|c.68-50C>G|||||| 22 44696721 . C T . . ANN=T|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|2/4|c.67+38G>A|||||| 22 44696732 . C T . . ANN=T|intron_variant|MODIFIER|KIAA1644|KIAA1644|transcript|NM_001099294.1|Coding|2/4|c.67+27G>A|||||| 22 44893302 . G T . . ANN=T|synonymous_variant|LOW|LDOC1L|LDOC1L|transcript|NM_032287.2|Coding|2/2|c.135C>A|p.Thr45Thr|472/5324|135/720|45/239|| 22 44893335 . G A . . ANN=A|synonymous_variant|LOW|LDOC1L|LDOC1L|transcript|NM_032287.2|Coding|2/2|c.102C>T|p.Leu34Leu|439/5324|102/720|34/239|| 22 44893337 . G T . . ANN=T|missense_variant|MODERATE|LDOC1L|LDOC1L|transcript|NM_032287.2|Coding|2/2|c.100C>A|p.Leu34Ile|437/5324|100/720|34/239|| 22 44893383 . C T . . ANN=T|synonymous_variant|LOW|LDOC1L|LDOC1L|transcript|NM_032287.2|Coding|2/2|c.54G>A|p.Pro18Pro|391/5324|54/720|18/239|| 22 45110443 . T G . . ANN=G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|3/9|c.204-28T>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|1/14|c.108-28T>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|2/8|c.108-28T>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|1/7|c.-151-28T>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|1/7|c.-151-28T>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|2/8|c.108-28T>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|1/7|c.135-28T>G|||||| 22 45110464 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|3/9|c.204-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|1/14|c.108-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|2/8|c.108-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|1/7|c.-151-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|1/7|c.-151-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|2/8|c.108-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|1/7|c.135-7C>A|||||| 22 45110585 . T C . . ANN=C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|4/9|c.284+34T>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|2/14|c.188+34T>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|3/8|c.188+34T>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|2/7|c.-71+34T>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|2/7|c.-71+34T>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|3/8|c.188+34T>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|2/7|c.215+34T>C|||||| 22 45121097 . C T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|4/9|c.285-27C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|2/14|c.189-27C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|3/8|c.189-27C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|2/7|c.-70-27C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|2/7|c.-70-27C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|3/8|c.189-27C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|2/7|c.216-27C>T|||||| 22 45121101 . CTT C . . ANN=C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|4/9|c.285-22_285-21delTT||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|2/14|c.189-22_189-21delTT||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|3/8|c.189-22_189-21delTT||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|2/7|c.-70-22_-70-21delTT||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|2/7|c.-70-22_-70-21delTT||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|3/8|c.189-22_189-21delTT||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|2/7|c.216-22_216-21delTT|||||| 22 45121160 . G A . . ANN=A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|5/10|c.321G>A|p.Thr107Thr|1207/2556|321/1236|107/411||,A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|3/15|c.225G>A|p.Thr75Thr|225/1857|225/1668|75/555||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|4/9|c.225G>A|p.Thr75Thr|494/1843|225/1140|75/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|4/9|c.225G>A|p.Thr75Thr|668/2017|225/1140|75/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|3/8|c.252G>A|p.Thr84Thr|529/1878|252/1167|84/388||,A|5_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|3/8|c.-34G>A|||||1318|,A|5_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|3/8|c.-34G>A|||||1318| 22 45121195 . A G . . ANN=G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|5/9|c.333+23A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|3/14|c.237+23A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|4/8|c.237+23A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|3/7|c.-22+23A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|3/7|c.-22+23A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|4/8|c.237+23A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|3/7|c.264+23A>G|||||| 22 45122428 . G A . . ANN=A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|5/9|c.334-29G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|3/14|c.238-29G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|4/8|c.238-29G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|3/7|c.-21-29G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|3/7|c.-21-29G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|4/8|c.238-29G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|3/7|c.265-29G>A|||||| 22 45122448 . T A . . ANN=A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|5/9|c.334-9T>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|3/14|c.238-9T>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|4/8|c.238-9T>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|3/7|c.-21-9T>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|3/7|c.-21-9T>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|4/8|c.238-9T>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|3/7|c.265-9T>A|||||| 22 45122483 . G C . . ANN=C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|6/10|c.360G>C|p.Val120Val|1246/2556|360/1236|120/411||,C|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/15|c.264G>C|p.Val88Val|264/1857|264/1668|88/555||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|5/9|c.264G>C|p.Val88Val|533/1843|264/1140|88/379||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|4/8|c.6G>C|p.Val2Val|416/1726|6/882|2/293||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|4/8|c.6G>C|p.Val2Val|590/1900|6/882|2/293||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|5/9|c.264G>C|p.Val88Val|707/2017|264/1140|88/379||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|4/8|c.291G>C|p.Val97Val|568/1878|291/1167|97/388|| 22 45122534 . C G . . ANN=G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|6/9|c.391+20C>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+20C>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|5/8|c.295+20C>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|4/7|c.37+20C>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|4/7|c.37+20C>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|5/8|c.295+20C>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|4/7|c.322+20C>G|||||| 22 45122535 . G A . . ANN=A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|6/9|c.391+21G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+21G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|5/8|c.295+21G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|4/7|c.37+21G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|4/7|c.37+21G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|5/8|c.295+21G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|4/7|c.322+21G>A|||||| 22 45122537 . C T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|6/9|c.391+23C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+23C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|5/8|c.295+23C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|4/7|c.37+23C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|4/7|c.37+23C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|5/8|c.295+23C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|4/7|c.322+23C>T|||||| 22 45127568 . C T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|6/9|c.392-42C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5054C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|5/8|c.296-42C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|4/7|c.38-42C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|4/7|c.38-42C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|5/8|c.296-42C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|4/7|c.323-42C>T|||||| 22 45127569 . G A . . ANN=A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|6/9|c.392-41G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5055G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|5/8|c.296-41G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|4/7|c.38-41G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|4/7|c.38-41G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|5/8|c.296-41G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|4/7|c.323-41G>A|||||| 22 45127572 . C T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|6/9|c.392-38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5058C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|5/8|c.296-38C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|4/7|c.38-38C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|4/7|c.38-38C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|5/8|c.296-38C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|4/7|c.323-38C>T|||||| 22 45127581 . C T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|6/9|c.392-29C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5067C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|5/8|c.296-29C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|4/7|c.38-29C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|4/7|c.38-29C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|5/8|c.296-29C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|4/7|c.323-29C>T|||||| 22 45127739 . C T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|7/9|c.483+38C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5225C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|6/8|c.387+38C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|5/7|c.129+38C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|5/7|c.129+38C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|6/8|c.387+38C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|5/7|c.414+38C>T|||||| 22 45128114 . G A . . ANN=A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|7/9|c.484-17G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5600G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|6/8|c.388-17G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|5/7|c.130-17G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|5/7|c.130-17G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|6/8|c.388-17G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|5/7|c.415-17G>A|||||| 22 45128218 . C T . . ANN=T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/10|c.571C>T|p.Arg191Trp|1457/2556|571/1236|191/411||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/9|c.475C>T|p.Arg159Trp|744/1843|475/1140|159/379||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/8|c.217C>T|p.Arg73Trp|627/1726|217/882|73/293||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/8|c.217C>T|p.Arg73Trp|801/1900|217/882|73/293||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|7/9|c.475C>T|p.Arg159Trp|918/2017|475/1140|159/379||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|6/8|c.502C>T|p.Arg168Trp|779/1878|502/1167|168/388||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5704C>T|||||| 22 45128231 . G A . . ANN=A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/10|c.584G>A|p.Arg195His|1470/2556|584/1236|195/411||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/9|c.488G>A|p.Arg163His|757/1843|488/1140|163/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/8|c.230G>A|p.Arg77His|640/1726|230/882|77/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/8|c.230G>A|p.Arg77His|814/1900|230/882|77/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|7/9|c.488G>A|p.Arg163His|931/2017|488/1140|163/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|6/8|c.515G>A|p.Arg172His|792/1878|515/1167|172/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5717G>A|||||| 22 45128232 . T C . . ANN=C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/10|c.585T>C|p.Arg195Arg|1471/2556|585/1236|195/411||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/9|c.489T>C|p.Arg163Arg|758/1843|489/1140|163/379||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/8|c.231T>C|p.Arg77Arg|641/1726|231/882|77/293||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/8|c.231T>C|p.Arg77Arg|815/1900|231/882|77/293||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|7/9|c.489T>C|p.Arg163Arg|932/2017|489/1140|163/379||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|6/8|c.516T>C|p.Arg172Arg|793/1878|516/1167|172/388||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5718T>C|||||| 22 45128233 . G A . . ANN=A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/10|c.586G>A|p.Val196Met|1472/2556|586/1236|196/411||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/9|c.490G>A|p.Val164Met|759/1843|490/1140|164/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/8|c.232G>A|p.Val78Met|642/1726|232/882|78/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/8|c.232G>A|p.Val78Met|816/1900|232/882|78/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|7/9|c.490G>A|p.Val164Met|933/2017|490/1140|164/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|6/8|c.517G>A|p.Val173Met|794/1878|517/1167|173/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5719G>A|||||| 22 45128288 . G C . . ANN=C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/9|c.624+17G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+5774G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/8|c.528+17G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/7|c.270+17G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/7|c.270+17G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|7/8|c.528+17G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|6/7|c.555+17G>C|||||| 22 45130867 . G C . . ANN=C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/9|c.625-40G>C||||||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8353G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/8|c.529-40G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/7|c.271-40G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/7|c.271-40G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|7/8|c.529-40G>C||||||,C|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|6/7|c.556-40G>C|||||| 22 45130873 . A G . . ANN=G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/9|c.625-34A>G||||||,G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8359A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/8|c.529-34A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/7|c.271-34A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/7|c.271-34A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|7/8|c.529-34A>G||||||,G|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|6/7|c.556-34A>G|||||| 22 45130894 . C A . . ANN=A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/9|c.625-13C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8380C>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/8|c.529-13C>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/7|c.271-13C>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/7|c.271-13C>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|7/8|c.529-13C>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|6/7|c.556-13C>A|||||| 22 45130900 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|8/9|c.625-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|7/8|c.529-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|6/7|c.271-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|6/7|c.271-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|7/8|c.529-7C>A||||||,A|splice_region_variant&intron_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|6/7|c.556-7C>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8386C>A|||||| 22 45130932 . C T . . ANN=T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/10|c.650C>T|p.Thr217Ile|1536/2556|650/1236|217/411||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/9|c.554C>T|p.Thr185Ile|823/1843|554/1140|185/379||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/8|c.296C>T|p.Thr99Ile|706/1726|296/882|99/293||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/8|c.296C>T|p.Thr99Ile|880/1900|296/882|99/293||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|8/9|c.554C>T|p.Thr185Ile|997/2017|554/1140|185/379||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|7/8|c.581C>T|p.Thr194Ile|858/1878|581/1167|194/388||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8418C>T|||||| 22 45130947 . G A . . ANN=A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/10|c.665G>A|p.Arg222His|1551/2556|665/1236|222/411||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/9|c.569G>A|p.Arg190His|838/1843|569/1140|190/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/8|c.311G>A|p.Arg104His|721/1726|311/882|104/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/8|c.311G>A|p.Arg104His|895/1900|311/882|104/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|8/9|c.569G>A|p.Arg190His|1012/2017|569/1140|190/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|7/8|c.596G>A|p.Arg199His|873/1878|596/1167|199/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8433G>A|||||| 22 45130949 . C T . . ANN=T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/10|c.667C>T|p.Leu223Leu|1553/2556|667/1236|223/411||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/9|c.571C>T|p.Leu191Leu|840/1843|571/1140|191/379||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/8|c.313C>T|p.Leu105Leu|723/1726|313/882|105/293||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/8|c.313C>T|p.Leu105Leu|897/1900|313/882|105/293||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|8/9|c.571C>T|p.Leu191Leu|1014/2017|571/1140|191/379||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|7/8|c.598C>T|p.Leu200Leu|875/1878|598/1167|200/388||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8435C>T|||||| 22 45130957 . G A . . ANN=A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/10|c.675G>A|p.Thr225Thr|1561/2556|675/1236|225/411||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/9|c.579G>A|p.Thr193Thr|848/1843|579/1140|193/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/8|c.321G>A|p.Thr107Thr|731/1726|321/882|107/293||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/8|c.321G>A|p.Thr107Thr|905/1900|321/882|107/293||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|8/9|c.579G>A|p.Thr193Thr|1022/2017|579/1140|193/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|7/8|c.606G>A|p.Thr202Thr|883/1878|606/1167|202/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8443G>A|||||| 22 45130997 . G A . . ANN=A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/10|c.715G>A|p.Gly239Ser|1601/2556|715/1236|239/411||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/9|c.619G>A|p.Gly207Ser|888/1843|619/1140|207/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/8|c.361G>A|p.Gly121Ser|771/1726|361/882|121/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/8|c.361G>A|p.Gly121Ser|945/1900|361/882|121/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|8/9|c.619G>A|p.Gly207Ser|1062/2017|619/1140|207/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|7/8|c.646G>A|p.Gly216Ser|923/1878|646/1167|216/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8483G>A|||||| 22 45131053 . G A . . ANN=A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/9|c.760+11G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8539G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/8|c.664+11G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/7|c.406+11G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/7|c.406+11G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|8/8|c.664+11G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|7/7|c.691+11G>A|||||| 22 45131086 . G T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/9|c.760+44G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8572G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/8|c.664+44G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/7|c.406+44G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/7|c.406+44G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|8/8|c.664+44G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|7/7|c.691+44G>T|||||| 22 45131087 . G T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/9|c.760+45G>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8573G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/8|c.664+45G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/7|c.406+45G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/7|c.406+45G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|8/8|c.664+45G>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|7/7|c.691+45G>T|||||| 22 45131092 . C T . . ANN=T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/9|c.760+50C>T||||||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+8578C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/8|c.664+50C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/7|c.406+50C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/7|c.406+50C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|8/8|c.664+50C>T||||||,T|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|7/7|c.691+50C>T|||||| 22 45132638 . G A . . ANN=A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|9/9|c.761-14G>A||||||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10124G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|8/8|c.665-14G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|7/7|c.407-14G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|7/7|c.407-14G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|8/8|c.665-14G>A||||||,A|intron_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|7/7|c.692-14G>A|||||| 22 45132665 . C A . . ANN=A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.774C>A|p.Leu258Leu|1660/2556|774/1236|258/411||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.678C>A|p.Leu226Leu|947/1843|678/1140|226/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.420C>A|p.Leu140Leu|830/1726|420/882|140/293||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.420C>A|p.Leu140Leu|1004/1900|420/882|140/293||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.678C>A|p.Leu226Leu|1121/2017|678/1140|226/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.705C>A|p.Leu235Leu|982/1878|705/1167|235/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10151C>A|||||| 22 45132675 . C T . . ANN=T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.784C>T|p.Arg262Cys|1670/2556|784/1236|262/411||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.688C>T|p.Arg230Cys|957/1843|688/1140|230/379||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.430C>T|p.Arg144Cys|840/1726|430/882|144/293||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.430C>T|p.Arg144Cys|1014/1900|430/882|144/293||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.688C>T|p.Arg230Cys|1131/2017|688/1140|230/379||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.715C>T|p.Arg239Cys|992/1878|715/1167|239/388||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10161C>T|||||| 22 45132687 . G A . . ANN=A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.796G>A|p.Val266Met|1682/2556|796/1236|266/411||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.700G>A|p.Val234Met|969/1843|700/1140|234/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.442G>A|p.Val148Met|852/1726|442/882|148/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.442G>A|p.Val148Met|1026/1900|442/882|148/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.700G>A|p.Val234Met|1143/2017|700/1140|234/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.727G>A|p.Val243Met|1004/1878|727/1167|243/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10173G>A|||||| 22 45132704 . T C . . ANN=C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.813T>C|p.Pro271Pro|1699/2556|813/1236|271/411||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.717T>C|p.Pro239Pro|986/1843|717/1140|239/379||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.459T>C|p.Pro153Pro|869/1726|459/882|153/293||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.459T>C|p.Pro153Pro|1043/1900|459/882|153/293||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.717T>C|p.Pro239Pro|1160/2017|717/1140|239/379||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.744T>C|p.Pro248Pro|1021/1878|744/1167|248/388||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10190T>C|||||| 22 45132725 . C T . . ANN=T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.834C>T|p.Tyr278Tyr|1720/2556|834/1236|278/411||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.738C>T|p.Tyr246Tyr|1007/1843|738/1140|246/379||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.480C>T|p.Tyr160Tyr|890/1726|480/882|160/293||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.480C>T|p.Tyr160Tyr|1064/1900|480/882|160/293||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.738C>T|p.Tyr246Tyr|1181/2017|738/1140|246/379||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.765C>T|p.Tyr255Tyr|1042/1878|765/1167|255/388||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10211C>T|||||| 22 45132785 . T C . . ANN=C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.894T>C|p.Gly298Gly|1780/2556|894/1236|298/411||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.798T>C|p.Gly266Gly|1067/1843|798/1140|266/379||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.540T>C|p.Gly180Gly|950/1726|540/882|180/293||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.540T>C|p.Gly180Gly|1124/1900|540/882|180/293||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.798T>C|p.Gly266Gly|1241/2017|798/1140|266/379||,C|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.825T>C|p.Gly275Gly|1102/1878|825/1167|275/388||,C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10271T>C|||||| 22 45132794 . C T . . ANN=T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.903C>T|p.Ile301Ile|1789/2556|903/1236|301/411||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.807C>T|p.Ile269Ile|1076/1843|807/1140|269/379||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.549C>T|p.Ile183Ile|959/1726|549/882|183/293||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.549C>T|p.Ile183Ile|1133/1900|549/882|183/293||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.807C>T|p.Ile269Ile|1250/2017|807/1140|269/379||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.834C>T|p.Ile278Ile|1111/1878|834/1167|278/388||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10280C>T|||||| 22 45132831 . G A . . ANN=A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.940G>A|p.Glu314Lys|1826/2556|940/1236|314/411||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.844G>A|p.Glu282Lys|1113/1843|844/1140|282/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.586G>A|p.Glu196Lys|996/1726|586/882|196/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.586G>A|p.Glu196Lys|1170/1900|586/882|196/293||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.844G>A|p.Glu282Lys|1287/2017|844/1140|282/379||,A|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.871G>A|p.Glu291Lys|1148/1878|871/1167|291/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10317G>A|||||| 22 45132853 . C T . . ANN=T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.962C>T|p.Pro321Leu|1848/2556|962/1236|321/411||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.866C>T|p.Pro289Leu|1135/1843|866/1140|289/379||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.608C>T|p.Pro203Leu|1018/1726|608/882|203/293||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.608C>T|p.Pro203Leu|1192/1900|608/882|203/293||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.866C>T|p.Pro289Leu|1309/2017|866/1140|289/379||,T|missense_variant|MODERATE|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.893C>T|p.Pro298Leu|1170/1878|893/1167|298/388||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10339C>T|||||| 22 45132854 . G A . . ANN=A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.963G>A|p.Pro321Pro|1849/2556|963/1236|321/411||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.867G>A|p.Pro289Pro|1136/1843|867/1140|289/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.609G>A|p.Pro203Pro|1019/1726|609/882|203/293||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.609G>A|p.Pro203Pro|1193/1900|609/882|203/293||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.867G>A|p.Pro289Pro|1310/2017|867/1140|289/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.894G>A|p.Pro298Pro|1171/1878|894/1167|298/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10340G>A|||||| 22 45132857 . C T . . ANN=T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.966C>T|p.Pro322Pro|1852/2556|966/1236|322/411||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.870C>T|p.Pro290Pro|1139/1843|870/1140|290/379||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.612C>T|p.Pro204Pro|1022/1726|612/882|204/293||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.612C>T|p.Pro204Pro|1196/1900|612/882|204/293||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.870C>T|p.Pro290Pro|1313/2017|870/1140|290/379||,T|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.897C>T|p.Pro299Pro|1174/1878|897/1167|299/388||,T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10343C>T|||||| 22 45132896 . G A . . ANN=A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.1005G>A|p.Ala335Ala|1891/2556|1005/1236|335/411||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.909G>A|p.Ala303Ala|1178/1843|909/1140|303/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.651G>A|p.Ala217Ala|1061/1726|651/882|217/293||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.651G>A|p.Ala217Ala|1235/1900|651/882|217/293||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.909G>A|p.Ala303Ala|1352/2017|909/1140|303/379||,A|synonymous_variant|LOW|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.936G>A|p.Ala312Ala|1213/1878|936/1167|312/388||,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10382G>A|||||| 22 45133173 . CG C . . ANN=|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.*51delG|||||51|INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10664delG||||||INFO_REALIGN_3_PRIME 22 45133174 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001198721.1|Coding|10/10|c.*47G>A|||||47|,A|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017528.2|Coding|9/9|c.*47G>A|||||47|,A|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017529.2|Coding|8/8|c.*47G>A|||||47|,A|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_001017530.1|Coding|8/8|c.*47G>A|||||47|,A|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_015366.3|Coding|9/9|c.*47G>A|||||47|,A|3_prime_UTR_variant|MODIFIER|PRR5|PRR5|transcript|NM_181333.3|Coding|8/8|c.*47G>A|||||47|,A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|4/14|c.295+10660G>A|||||| 22 45182361 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|5/15|c.320C>T|p.Ala107Val|320/1857|320/1668|107/555||,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|2/13|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|2/11|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|2/12|c.-47C>T|||||47| 22 45182362 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|5/15|c.321G>A|p.Ala107Ala|321/1857|321/1668|107/555||,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|2/13|c.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|2/11|c.-46G>A|||||46|,A|5_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|2/12|c.-46G>A|||||46| 22 45182428 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|5/15|c.387G>A|p.Ala129Ala|387/1857|387/1668|129/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|2/13|c.21G>A|p.Ala7Ala|162/1725|21/1395|7/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|2/11|c.21G>A|p.Ala7Ala|162/1528|21/918|7/305||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|2/12|c.21G>A|p.Ala7Ala|162/1632|21/1302|7/433|| 22 45182436 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|5/15|c.395C>T|p.Thr132Met|395/1857|395/1668|132/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|2/13|c.29C>T|p.Thr10Met|170/1725|29/1395|10/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|2/11|c.29C>T|p.Thr10Met|170/1528|29/918|10/305||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|2/12|c.29C>T|p.Thr10Met|170/1632|29/1302|10/433|| 22 45182453 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|5/15|c.412G>A|p.Asp138Asn|412/1857|412/1668|138/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|2/13|c.46G>A|p.Asp16Asn|187/1725|46/1395|16/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|2/11|c.46G>A|p.Asp16Asn|187/1528|46/918|16/305||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|2/12|c.46G>A|p.Asp16Asn|187/1632|46/1302|16/433|| 22 45182466 . A G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|5/15|c.425A>G|p.His142Arg|425/1857|425/1668|142/555||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|2/13|c.59A>G|p.His20Arg|200/1725|59/1395|20/464||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|2/11|c.59A>G|p.His20Arg|200/1528|59/918|20/305||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|2/12|c.59A>G|p.His20Arg|200/1632|59/1302|20/433|| 22 45198000 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|6/15|c.489C>T|p.Cys163Cys|489/1857|489/1668|163/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|3/13|c.123C>T|p.Cys41Cys|264/1725|123/1395|41/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|3/11|c.123C>T|p.Cys41Cys|264/1528|123/918|41/305||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|3/12|c.123C>T|p.Cys41Cys|264/1632|123/1302|41/433|| 22 45198002 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|6/15|c.491G>A|p.Arg164Gln|491/1857|491/1668|164/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|3/13|c.125G>A|p.Arg42Gln|266/1725|125/1395|42/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|3/11|c.125G>A|p.Arg42Gln|266/1528|125/918|42/305||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|3/12|c.125G>A|p.Arg42Gln|266/1632|125/1302|42/433|| 22 45198009 . A G . . ANN=G|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|6/15|c.498A>G|p.Pro166Pro|498/1857|498/1668|166/555||,G|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|3/13|c.132A>G|p.Pro44Pro|273/1725|132/1395|44/464||,G|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|3/11|c.132A>G|p.Pro44Pro|273/1528|132/918|44/305||,G|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|3/12|c.132A>G|p.Pro44Pro|273/1632|132/1302|44/433|| 22 45198034 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|6/15|c.523C>T|p.Arg175Trp|523/1857|523/1668|175/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|3/13|c.157C>T|p.Arg53Trp|298/1725|157/1395|53/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|3/11|c.157C>T|p.Arg53Trp|298/1528|157/918|53/305||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|3/12|c.157C>T|p.Arg53Trp|298/1632|157/1302|53/433|| 22 45204163 . C A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|6/14|c.534-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|3/12|c.168-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|3/10|c.168-24C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|3/11|c.168-24C>A|||||| 22 45204235 . C A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|7/15|c.582C>A|p.Ile194Ile|582/1857|582/1668|194/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|4/13|c.216C>A|p.Ile72Ile|357/1725|216/1395|72/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|4/11|c.216C>A|p.Ile72Ile|357/1528|216/918|72/305||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|4/12|c.216C>A|p.Ile72Ile|357/1632|216/1302|72/433|| 22 45204354 . G T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|7/14|c.665+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|4/12|c.299+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|4/10|c.299+36G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|4/11|c.299+36G>T|||||| 22 45210505 . T A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|7/14|c.666-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|5/12|c.393-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|4/10|c.300-47T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|4/11|c.300-47T>A|||||| 22 45210514 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|7/14|c.666-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|5/12|c.393-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|4/10|c.300-38C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|4/11|c.300-38C>T|||||| 22 45210633 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|8/15|c.747C>T|p.Leu249Leu|747/1857|747/1668|249/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|6/13|c.474C>T|p.Leu158Leu|615/1725|474/1395|158/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|5/11|c.381C>T|p.Leu127Leu|522/1528|381/918|127/305||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|5/12|c.381C>T|p.Leu127Leu|522/1632|381/1302|127/433|| 22 45210666 . G A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|8/14|c.752+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|6/12|c.479+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|5/10|c.386+28G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|5/11|c.386+28G>A|||||| 22 45210675 . G A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|8/14|c.752+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|6/12|c.479+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|5/10|c.386+37G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|5/11|c.386+37G>A|||||| 22 45210685 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|8/14|c.752+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|6/12|c.479+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|5/10|c.386+47C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|5/11|c.386+47C>T|||||| 22 45218206 . G A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|8/14|c.753-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|6/12|c.480-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|5/10|c.387-45G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|5/11|c.387-45G>A|||||| 22 45218211 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|8/14|c.753-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|6/12|c.480-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|5/10|c.387-40C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|5/11|c.387-40C>T|||||| 22 45218223 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|8/14|c.753-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|6/12|c.480-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|5/10|c.387-28C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|5/11|c.387-28C>T|||||| 22 45218286 . A G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|9/15|c.788A>G|p.Tyr263Cys|788/1857|788/1668|263/555||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|7/13|c.515A>G|p.Tyr172Cys|656/1725|515/1395|172/464||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|6/11|c.422A>G|p.Tyr141Cys|563/1528|422/918|141/305||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|6/12|c.422A>G|p.Tyr141Cys|563/1632|422/1302|141/433|| 22 45218318 . G T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|9/15|c.820G>T|p.Asp274Tyr|820/1857|820/1668|274/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|7/13|c.547G>T|p.Asp183Tyr|688/1725|547/1395|183/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|6/11|c.454G>T|p.Asp152Tyr|595/1528|454/918|152/305||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|6/12|c.454G>T|p.Asp152Tyr|595/1632|454/1302|152/433|| 22 45218339 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|9/15|c.841G>A|p.Glu281Lys|841/1857|841/1668|281/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|7/13|c.568G>A|p.Glu190Lys|709/1725|568/1395|190/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|6/11|c.475G>A|p.Glu159Lys|616/1528|475/918|159/305||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|6/12|c.475G>A|p.Glu159Lys|616/1632|475/1302|159/433|| 22 45218349 . GGTAA G . . ANN=G|splice_donor_variant&splice_region_variant&intron_variant|HIGH|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|9/14|c.851+1_851+4delGTAA||||||,G|splice_donor_variant&splice_region_variant&intron_variant|HIGH|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|7/12|c.578+1_578+4delGTAA||||||,G|splice_donor_variant&splice_region_variant&intron_variant|HIGH|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|6/10|c.485+1_485+4delGTAA||||||,G|splice_donor_variant&splice_region_variant&intron_variant|HIGH|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|6/11|c.485+1_485+4delGTAA||||||;LOF=(ARHGAP8|ARHGAP8|3|1.00),(PRR5-ARHGAP8|PRR5-ARHGAP8|1|1.00) 22 45218385 . A G . . ANN=G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|9/14|c.851+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|7/12|c.578+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|6/10|c.485+36A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|6/11|c.485+36A>G|||||| 22 45221334 . T A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|9/14|c.852-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|7/12|c.579-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|6/10|c.486-29T>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|6/11|c.486-29T>A|||||| 22 45221398 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|10/15|c.887G>A|p.Arg296Gln|887/1857|887/1668|296/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|8/13|c.614G>A|p.Arg205Gln|755/1725|614/1395|205/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|7/11|c.521G>A|p.Arg174Gln|662/1528|521/918|174/305||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|7/12|c.521G>A|p.Arg174Gln|662/1632|521/1302|174/433|| 22 45221404 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|10/15|c.893C>T|p.Pro298Leu|893/1857|893/1668|298/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|8/13|c.620C>T|p.Pro207Leu|761/1725|620/1395|207/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|7/11|c.527C>T|p.Pro176Leu|668/1528|527/918|176/305||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|7/12|c.527C>T|p.Pro176Leu|668/1632|527/1302|176/433|| 22 45221423 . A T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|10/15|c.912A>T|p.Pro304Pro|912/1857|912/1668|304/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|8/13|c.639A>T|p.Pro213Pro|780/1725|639/1395|213/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|7/11|c.546A>T|p.Pro182Pro|687/1528|546/918|182/305||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|7/12|c.546A>T|p.Pro182Pro|687/1632|546/1302|182/433|| 22 45221485 . G A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|10/14|c.962+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|8/12|c.689+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|7/10|c.596+12G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|7/11|c.596+12G>A|||||| 22 45241102 . C G . . ANN=G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|10/14|c.963-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|8/12|c.690-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|7/10|c.597-47C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|7/11|c.597-47C>G|||||| 22 45241125 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|10/14|c.963-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|8/12|c.690-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|7/10|c.597-24C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|7/11|c.597-24C>T|||||| 22 45241179 . C A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|11/15|c.993C>A|p.Ile331Ile|993/1857|993/1668|331/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|9/13|c.720C>A|p.Ile240Ile|861/1725|720/1395|240/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|8/11|c.627C>A|p.Ile209Ile|768/1528|627/918|209/305||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|8/12|c.627C>A|p.Ile209Ile|768/1632|627/1302|209/433|| 22 45241205 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|11/15|c.1019C>T|p.Thr340Met|1019/1857|1019/1668|340/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|9/13|c.746C>T|p.Thr249Met|887/1725|746/1395|249/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|8/11|c.653C>T|p.Thr218Met|794/1528|653/918|218/305||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|8/12|c.653C>T|p.Thr218Met|794/1632|653/1302|218/433|| 22 45241206 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|11/15|c.1020G>A|p.Thr340Thr|1020/1857|1020/1668|340/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|9/13|c.747G>A|p.Thr249Thr|888/1725|747/1395|249/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|8/11|c.654G>A|p.Thr218Thr|795/1528|654/918|218/305||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|8/12|c.654G>A|p.Thr218Thr|795/1632|654/1302|218/433|| 22 45243842 . C G . . ANN=G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|11/14|c.1037-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|9/12|c.764-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|8/10|c.671-11C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|8/11|c.671-11C>G|||||| 22 45243863 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|12/15|c.1047C>T|p.Thr349Thr|1047/1857|1047/1668|349/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|10/13|c.774C>T|p.Thr258Thr|915/1725|774/1395|258/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|9/11|c.681C>T|p.Thr227Thr|822/1528|681/918|227/305||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|9/12|c.681C>T|p.Thr227Thr|822/1632|681/1302|227/433|| 22 45243899 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|12/15|c.1083C>T|p.Thr361Thr|1083/1857|1083/1668|361/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|10/13|c.810C>T|p.Thr270Thr|951/1725|810/1395|270/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|9/11|c.717C>T|p.Thr239Thr|858/1528|717/918|239/305||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|9/12|c.717C>T|p.Thr239Thr|858/1632|717/1302|239/433|| 22 45243914 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|12/15|c.1098G>A|p.Gln366Gln|1098/1857|1098/1668|366/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|10/13|c.825G>A|p.Gln275Gln|966/1725|825/1395|275/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|9/11|c.732G>A|p.Gln244Gln|873/1528|732/918|244/305||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|9/12|c.732G>A|p.Gln244Gln|873/1632|732/1302|244/433|| 22 45243920 . C A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|12/15|c.1104C>A|p.Leu368Leu|1104/1857|1104/1668|368/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|10/13|c.831C>A|p.Leu277Leu|972/1725|831/1395|277/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|9/11|c.738C>A|p.Leu246Leu|879/1528|738/918|246/305||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|9/12|c.738C>A|p.Leu246Leu|879/1632|738/1302|246/433|| 22 45243933 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|12/14|c.1114+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|10/12|c.841+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|9/10|c.748+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|9/11|c.748+3G>A|||||| 22 45243980 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|12/14|c.1114+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|10/12|c.841+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|9/10|c.748+50C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|9/11|c.748+50C>T|||||| 22 45244782 . G C . . ANN=C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|12/14|c.1115-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|10/12|c.842-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|9/10|c.749-30G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|9/11|c.749-30G>C|||||| 22 45244784 . C A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|12/14|c.1115-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|10/12|c.842-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|9/10|c.749-28C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|9/11|c.749-28C>A|||||| 22 45244819 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/15|c.1122C>T|p.Pro374Pro|1122/1857|1122/1668|374/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/13|c.849C>T|p.Pro283Pro|990/1725|849/1395|283/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/11|c.756C>T|p.Pro252Pro|897/1528|756/918|252/305||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/12|c.756C>T|p.Pro252Pro|897/1632|756/1302|252/433|| 22 45244919 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/15|c.1222G>A|p.Glu408Lys|1222/1857|1222/1668|408/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/13|c.949G>A|p.Glu317Lys|1090/1725|949/1395|317/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/11|c.856G>A|p.Glu286Lys|997/1528|856/918|286/305||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/12|c.856G>A|p.Glu286Lys|997/1632|856/1302|286/433|| 22 45244930 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/15|c.1233C>T|p.Leu411Leu|1233/1857|1233/1668|411/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/13|c.960C>T|p.Leu320Leu|1101/1725|960/1395|320/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/11|c.867C>T|p.Leu289Leu|1008/1528|867/918|289/305||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/12|c.867C>T|p.Leu289Leu|1008/1632|867/1302|289/433|| 22 45244945 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/14|c.1243+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/12|c.970+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.877+5G>A||||||,A|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/11|c.877+5G>A|||||| 22 45244967 . G T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/14|c.1243+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/12|c.970+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.877+27G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/11|c.877+27G>T|||||| 22 45244983 . A G . . ANN=G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/14|c.1243+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/12|c.970+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.877+43A>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/11|c.877+43A>G|||||| 22 45255580 . G C . . ANN=C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/14|c.1244-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/12|c.971-31G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2575G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/11|c.878-31G>C|||||| 22 45255594 . G A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/14|c.1244-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/12|c.971-17G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2561G>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/11|c.878-17G>A|||||| 22 45255599 . A C . . ANN=C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|13/14|c.1244-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|11/12|c.971-12A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2556A>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|10/11|c.878-12A>C|||||| 22 45255628 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1261C>T|p.Arg421Cys|1261/1857|1261/1668|421/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.988C>T|p.Arg330Cys|1129/1725|988/1395|330/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.895C>T|p.Arg299Cys|1036/1632|895/1302|299/433||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2527C>T|||||| 22 45255637 . G C . . ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1270G>C|p.Gly424Arg|1270/1857|1270/1668|424/555||,C|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.997G>C|p.Gly333Arg|1138/1725|997/1395|333/464||,C|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.904G>C|p.Gly302Arg|1045/1632|904/1302|302/433||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2518G>C|||||| 22 45255644 . G T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1277G>T|p.Arg426Leu|1277/1857|1277/1668|426/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1004G>T|p.Arg335Leu|1145/1725|1004/1395|335/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.911G>T|p.Arg304Leu|1052/1632|911/1302|304/433||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2511G>T|||||| 22 45255655 . C A,T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1288C>T|p.Arg430Trp|1288/1857|1288/1668|430/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1015C>T|p.Arg339Trp|1156/1725|1015/1395|339/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.922C>T|p.Arg308Trp|1063/1632|922/1302|308/433||,A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1288C>A|p.Arg430Arg|1288/1857|1288/1668|430/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1015C>A|p.Arg339Arg|1156/1725|1015/1395|339/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.922C>A|p.Arg308Arg|1063/1632|922/1302|308/433||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2500C>A||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2500C>T|||||| 22 45255663 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1296C>T|p.Leu432Leu|1296/1857|1296/1668|432/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1023C>T|p.Leu341Leu|1164/1725|1023/1395|341/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.930C>T|p.Leu310Leu|1071/1632|930/1302|310/433||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2492C>T|||||| 22 45255677 . A G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1310A>G|p.Tyr437Cys|1310/1857|1310/1668|437/555||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1037A>G|p.Tyr346Cys|1178/1725|1037/1395|346/464||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.944A>G|p.Tyr315Cys|1085/1632|944/1302|315/433||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2478A>G|||||| 22 45255681 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1314C>T|p.Val438Val|1314/1857|1314/1668|438/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1041C>T|p.Val347Val|1182/1725|1041/1395|347/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.948C>T|p.Val316Val|1089/1632|948/1302|316/433||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2474C>T|||||| 22 45255682 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1315G>A|p.Val439Ile|1315/1857|1315/1668|439/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1042G>A|p.Val348Ile|1183/1725|1042/1395|348/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.949G>A|p.Val317Ile|1090/1632|949/1302|317/433||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2473G>A|||||| 22 45255687 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1320C>T|p.Leu440Leu|1320/1857|1320/1668|440/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1047C>T|p.Leu349Leu|1188/1725|1047/1395|349/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.954C>T|p.Leu318Leu|1095/1632|954/1302|318/433||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2468C>T|||||| 22 45255688 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1321C>T|p.Arg441Cys|1321/1857|1321/1668|441/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1048C>T|p.Arg350Cys|1189/1725|1048/1395|350/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.955C>T|p.Arg319Cys|1096/1632|955/1302|319/433||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2467C>T|||||| 22 45255689 . G T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1322G>T|p.Arg441Leu|1322/1857|1322/1668|441/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1049G>T|p.Arg350Leu|1190/1725|1049/1395|350/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.956G>T|p.Arg319Leu|1097/1632|956/1302|319/433||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2466G>T|||||| 22 45255711 . T C . . ANN=C|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1344T>C|p.His448His|1344/1857|1344/1668|448/555||,C|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1071T>C|p.His357His|1212/1725|1071/1395|357/464||,C|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.978T>C|p.His326His|1119/1632|978/1302|326/433||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2444T>C|||||| 22 45255713 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1346C>T|p.Ala449Val|1346/1857|1346/1668|449/555||,T|missense_variant&splice_region_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1073C>T|p.Ala358Val|1214/1725|1073/1395|358/464||,T|missense_variant&splice_region_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.980C>T|p.Ala327Val|1121/1632|980/1302|327/433||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2442C>T|||||| 22 45255714 . G A,C,T . . ANN=A|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1347G>A|p.Ala449Ala|1347/1857|1347/1668|449/555||,C|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1347G>C|p.Ala449Ala|1347/1857|1347/1668|449/555||,T|splice_region_variant&synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/15|c.1347G>T|p.Ala449Ala|1347/1857|1347/1668|449/555||,A|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1074G>A|p.Ala358Ala|1215/1725|1074/1395|358/464||,C|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1074G>C|p.Ala358Ala|1215/1725|1074/1395|358/464||,T|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/13|c.1074G>T|p.Ala358Ala|1215/1725|1074/1395|358/464||,A|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.981G>A|p.Ala327Ala|1122/1632|981/1302|327/433||,C|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.981G>C|p.Ala327Ala|1122/1632|981/1302|327/433||,T|splice_region_variant&synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/12|c.981G>T|p.Ala327Ala|1122/1632|981/1302|327/433||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2441G>A||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2441G>C||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2441G>T|||||| 22 45255727 . G C . . ANN=C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1347+13G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1074+13G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2428G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.981+13G>C|||||| 22 45255728 . G C . . ANN=C|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1347+14G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1074+14G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2427G>C||||||,C|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.981+14G>C|||||| 22 45255732 . G GA . . ANN=GA|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1347+18_1347+19insA||||||,GA|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1074+18_1074+19insA||||||,GA|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2423_878-2422insA||||||,GA|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.981+18_981+19insA|||||| 22 45255735 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1347+21C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1074+21C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2420C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.981+21C>T|||||| 22 45255749 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1347+35C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1074+35C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2406C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.981+35C>T|||||| 22 45255751 . G T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1347+37G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1074+37G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2404G>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.981+37G>T|||||| 22 45255763 . C G . . ANN=G|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1347+49C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1074+49C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2392C>G||||||,G|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.981+49C>G|||||| 22 45255764 . C A . . ANN=A|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1347+50C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1074+50C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-2391C>A||||||,A|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.981+50C>A|||||| 22 45258106 . C T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1348-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1075-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-49C>T||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.982-49C>T|||||| 22 45258130 . TTTAC T . . ANN=T|intron_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1348-24_1348-21delTTAC||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1075-24_1075-21delTTAC||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-24_878-21delTTAC||||||,T|intron_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.982-24_982-21delTTAC|||||| 22 45258149 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|14/14|c.1348-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|12/12|c.1075-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|10/10|c.878-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|11/11|c.982-6C>T|||||| 22 45258160 . C G . . ANN=G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.883C>G|p.Pro295Ala|1024/1528|883/918|295/305||,G|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1353C>G|p.Ser451Ser|1353/1857|1353/1668|451/555||,G|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1080C>G|p.Ser360Ser|1221/1725|1080/1395|360/464||,G|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.987C>G|p.Ser329Ser|1128/1632|987/1302|329/433|| 22 45258162 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1355G>A|p.Arg452Gln|1355/1857|1355/1668|452/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1082G>A|p.Arg361Gln|1223/1725|1082/1395|361/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.989G>A|p.Arg330Gln|1130/1632|989/1302|330/433||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.885G>A|p.Pro295Pro|1026/1528|885/918|295/305|| 22 45258168 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1361G>A|p.Ser454Asn|1361/1857|1361/1668|454/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1088G>A|p.Ser363Asn|1229/1725|1088/1395|363/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.995G>A|p.Ser332Asn|1136/1632|995/1302|332/433||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.891G>A|p.Glu297Glu|1032/1528|891/918|297/305|| 22 45258187 . C G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1380C>G|p.Asn460Lys|1380/1857|1380/1668|460/555||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1107C>G|p.Asn369Lys|1248/1725|1107/1395|369/464||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.910C>G|p.Gln304Glu|1051/1528|910/918|304/305||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1014C>G|p.Asn338Lys|1155/1632|1014/1302|338/433|| 22 45258211 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1404C>T|p.Phe468Phe|1404/1857|1404/1668|468/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1131C>T|p.Phe377Phe|1272/1725|1131/1395|377/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1038C>T|p.Phe346Phe|1179/1632|1038/1302|346/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*16C>T|||||16| 22 45258233 . T G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1426T>G|p.Ser476Ala|1426/1857|1426/1668|476/555||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1153T>G|p.Ser385Ala|1294/1725|1153/1395|385/464||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1060T>G|p.Ser354Ala|1201/1632|1060/1302|354/433||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*38T>G|||||38| 22 45258234 . C G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1427C>G|p.Ser476Cys|1427/1857|1427/1668|476/555||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1154C>G|p.Ser385Cys|1295/1725|1154/1395|385/464||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1061C>G|p.Ser354Cys|1202/1632|1061/1302|354/433||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*39C>G|||||39| 22 45258253 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1446G>A|p.Leu482Leu|1446/1857|1446/1668|482/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1173G>A|p.Leu391Leu|1314/1725|1173/1395|391/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1080G>A|p.Leu360Leu|1221/1632|1080/1302|360/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*58G>A|||||58| 22 45258265 . G C . . ANN=C|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1458G>C|p.Val486Val|1458/1857|1458/1668|486/555||,C|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1185G>C|p.Val395Val|1326/1725|1185/1395|395/464||,C|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1092G>C|p.Val364Val|1233/1632|1092/1302|364/433||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*70G>C|||||70| 22 45258284 . G C . . ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1477G>C|p.Glu493Gln|1477/1857|1477/1668|493/555||,C|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1204G>C|p.Glu402Gln|1345/1725|1204/1395|402/464||,C|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1111G>C|p.Glu371Gln|1252/1632|1111/1302|371/433||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*89G>C|||||89| 22 45258295 . C A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1488C>A|p.Ile496Ile|1488/1857|1488/1668|496/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1215C>A|p.Ile405Ile|1356/1725|1215/1395|405/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1122C>A|p.Ile374Ile|1263/1632|1122/1302|374/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*100C>A|||||100| 22 45258296 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1489G>A|p.Glu497Lys|1489/1857|1489/1668|497/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1216G>A|p.Glu406Lys|1357/1725|1216/1395|406/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1123G>A|p.Glu375Lys|1264/1632|1123/1302|375/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*101G>A|||||101| 22 45258324 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1517C>T|p.Pro506Leu|1517/1857|1517/1668|506/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1244C>T|p.Pro415Leu|1385/1725|1244/1395|415/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1151C>T|p.Pro384Leu|1292/1632|1151/1302|384/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*129C>T|||||129| 22 45258325 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1518G>A|p.Pro506Pro|1518/1857|1518/1668|506/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1245G>A|p.Pro415Pro|1386/1725|1245/1395|415/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1152G>A|p.Pro384Pro|1293/1632|1152/1302|384/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*130G>A|||||130| 22 45258333 . C G . . ANN=G|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1526C>G|p.Pro509Arg|1526/1857|1526/1668|509/555||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1253C>G|p.Pro418Arg|1394/1725|1253/1395|418/464||,G|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1160C>G|p.Pro387Arg|1301/1632|1160/1302|387/433||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*138C>G|||||138| 22 45258343 . C T . . ANN=T|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1536C>T|p.His512His|1536/1857|1536/1668|512/555||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1263C>T|p.His421His|1404/1725|1263/1395|421/464||,T|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1170C>T|p.His390His|1311/1632|1170/1302|390/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*148C>T|||||148| 22 45258344 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1537G>A|p.Gly513Ser|1537/1857|1537/1668|513/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1264G>A|p.Gly422Ser|1405/1725|1264/1395|422/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1171G>A|p.Gly391Ser|1312/1632|1171/1302|391/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*149G>A|||||149| 22 45258349 . G A . . ANN=A|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1542G>A|p.Leu514Leu|1542/1857|1542/1668|514/555||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1269G>A|p.Leu423Leu|1410/1725|1269/1395|423/464||,A|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1176G>A|p.Leu392Leu|1317/1632|1176/1302|392/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*154G>A|||||154| 22 45258361 . ACAGGGGAG A . . ANN=|frameshift_variant|HIGH|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1560_1567delGAGCAGGG|p.Gly520fs|1560/1857|1560/1668|520/555||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1287_1294delGAGCAGGG|p.Gly429fs|1428/1725|1287/1395|429/464||INFO_REALIGN_3_PRIME,|frameshift_variant|HIGH|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1194_1201delGAGCAGGG|p.Gly398fs|1335/1632|1194/1302|398/433||INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*172_*179delGAGCAGGG|||||172|INFO_REALIGN_3_PRIME;LOF=(ARHGAP8|ARHGAP8|3|0.67),(PRR5-ARHGAP8|PRR5-ARHGAP8|1|1.00) 22 45258373 . G C . . ANN=C|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1566G>C|p.Arg522Ser|1566/1857|1566/1668|522/555||,C|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1293G>C|p.Arg431Ser|1434/1725|1293/1395|431/464||,C|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1200G>C|p.Arg400Ser|1341/1632|1200/1302|400/433||,C|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*178G>C|||||178| 22 45258401 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1594C>T|p.Arg532Trp|1594/1857|1594/1668|532/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1321C>T|p.Arg441Trp|1462/1725|1321/1395|441/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1228C>T|p.Arg410Trp|1369/1632|1228/1302|410/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*206C>T|||||206| 22 45258402 . G A . . ANN=A|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1595G>A|p.Arg532Gln|1595/1857|1595/1668|532/555||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1322G>A|p.Arg441Gln|1463/1725|1322/1395|441/464||,A|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1229G>A|p.Arg410Gln|1370/1632|1229/1302|410/433||,A|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*207G>A|||||207| 22 45258414 . C T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1607C>T|p.Thr536Met|1607/1857|1607/1668|536/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1334C>T|p.Thr445Met|1475/1725|1334/1395|445/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1241C>T|p.Thr414Met|1382/1632|1241/1302|414/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*219C>T|||||219| 22 45258427 . G T . . ANN=T|missense_variant|MODERATE|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1620G>T|p.Lys540Asn|1620/1857|1620/1668|540/555||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1347G>T|p.Lys449Asn|1488/1725|1347/1395|449/464||,T|missense_variant|MODERATE|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1254G>T|p.Lys418Asn|1395/1632|1254/1302|418/433||,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*232G>T|||||232| 22 45258457 . A G . . ANN=G|synonymous_variant|LOW|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.1650A>G|p.Ala550Ala|1650/1857|1650/1668|550/555||,G|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.1377A>G|p.Ala459Ala|1518/1725|1377/1395|459/464||,G|synonymous_variant|LOW|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.1284A>G|p.Ala428Ala|1425/1632|1284/1302|428/433||,G|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*262A>G|||||262| 22 45258481 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.*6C>T|||||6|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*286C>T|||||286|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.*6C>T|||||6| 22 45258486 . ACT A . . ANN=|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*294_*295delCT|||||294|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.*14_*15delCT|||||14|INFO_REALIGN_3_PRIME 22 45258489 . CTG C . . ANN=|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*296_*297delGT|||||296|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.*16_*17delGT|||||16|INFO_REALIGN_3_PRIME 22 45258491 . GTATA G . . ANN=|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*298_*301delATAT|||||298|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.*18_*21delATAT|||||18|INFO_REALIGN_3_PRIME 22 45258511 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.*36C>T|||||36|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*316C>T|||||316|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.*36C>T|||||36| 22 45258513 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*318C>T|||||318|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.*38C>T|||||38| 22 45258516 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PRR5-ARHGAP8|PRR5-ARHGAP8|transcript|NM_181334.4|Coding|15/15|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001017526.1|Coding|13/13|c.*41C>T|||||41|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_001198726.1|Coding|11/11|c.*321C>T|||||321|,T|3_prime_UTR_variant|MODIFIER|ARHGAP8|ARHGAP8|transcript|NM_181335.2|Coding|12/12|c.*41C>T|||||41| 22 45278938 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|13/13|c.*28G>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|13/13|c.*28G>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|14/14|c.*28G>A|||||28|,T|3_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|14/14|c.*28G>A|||||28| 22 45278963 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|13/13|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|13/13|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|14/14|c.*3C>G|||||3|,C|3_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|14/14|c.*3C>G|||||3| 22 45279003 . G A . . ANN=A|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|13/13|c.1559C>T|p.Thr520Ile|1710/3670|1559/1596|520/531||,A|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|13/13|c.1397C>T|p.Thr466Ile|1579/3539|1397/1434|466/477||,A|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|14/14|c.947C>T|p.Thr316Ile|1625/3585|947/984|316/327||,A|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|14/14|c.1433C>T|p.Thr478Ile|1539/3499|1433/1470|478/489|| 22 45279034 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|13/13|c.1528G>A|p.Gly510Arg|1679/3670|1528/1596|510/531||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|13/13|c.1366G>A|p.Gly456Arg|1548/3539|1366/1434|456/477||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|14/14|c.916G>A|p.Gly306Arg|1594/3585|916/984|306/327||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|14/14|c.1402G>A|p.Gly468Arg|1508/3499|1402/1470|468/489|| 22 45279119 . G A . . ANN=A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|13/13|c.1443C>T|p.Arg481Arg|1594/3670|1443/1596|481/531||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|13/13|c.1281C>T|p.Arg427Arg|1463/3539|1281/1434|427/477||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|14/14|c.831C>T|p.Arg277Arg|1509/3585|831/984|277/327||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|14/14|c.1317C>T|p.Arg439Arg|1423/3499|1317/1470|439/489|| 22 45279176 . C T . . ANN=T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|13/13|c.1386G>A|p.Leu462Leu|1537/3670|1386/1596|462/531||,T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|13/13|c.1224G>A|p.Leu408Leu|1406/3539|1224/1434|408/477||,T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|14/14|c.774G>A|p.Leu258Leu|1452/3585|774/984|258/327||,T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|14/14|c.1260G>A|p.Leu420Leu|1366/3499|1260/1470|420/489|| 22 45279192 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|12/12|c.1378-8C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|12/12|c.1216-8C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|13/13|c.766-8C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|13/13|c.1252-8C>T|||||| 22 45279222 . T G . . ANN=G|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|12/12|c.1378-38A>C||||||,G|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|12/12|c.1216-38A>C||||||,G|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|13/13|c.766-38A>C||||||,G|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|13/13|c.1252-38A>C|||||| 22 45279223 . C T . . ANN=T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|12/12|c.1378-39G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|12/12|c.1216-39G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|13/13|c.766-39G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|13/13|c.1252-39G>A|||||| 22 45279224 . G A . . ANN=A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|12/12|c.1378-40C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|12/12|c.1216-40C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|13/13|c.766-40C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|13/13|c.1252-40C>T|||||| 22 45281269 . G A . . ANN=A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|12/12|c.1377+37C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|12/12|c.1215+37C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|13/13|c.765+37C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|13/13|c.1251+37C>T|||||| 22 45281696 . G A . . ANN=A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|11/12|c.1273+47C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|11/12|c.1111+47C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|12/13|c.661+47C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|12/13|c.1147+47C>T|||||| 22 45281715 . C G . . ANN=G|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|11/12|c.1273+28G>C||||||,G|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|11/12|c.1111+28G>C||||||,G|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|12/13|c.661+28G>C||||||,G|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|12/13|c.1147+28G>C|||||| 22 45283897 . C T . . ANN=T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|10/13|c.1143G>A|p.Pro381Pro|1294/3670|1143/1596|381/531||,T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|10/13|c.981G>A|p.Pro327Pro|1163/3539|981/1434|327/477||,T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|11/14|c.531G>A|p.Pro177Pro|1209/3585|531/984|177/327||,T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|11/14|c.1017G>A|p.Pro339Pro|1123/3499|1017/1470|339/489|| 22 45283971 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|10/13|c.1069G>A|p.Ala357Thr|1220/3670|1069/1596|357/531||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|10/13|c.907G>A|p.Ala303Thr|1089/3539|907/1434|303/477||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|11/14|c.457G>A|p.Ala153Thr|1135/3585|457/984|153/327||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|11/14|c.943G>A|p.Ala315Thr|1049/3499|943/1470|315/489|| 22 45283999 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|10/13|c.1041C>T|p.Asn347Asn|1192/3670|1041/1596|347/531||,A|splice_region_variant&synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|10/13|c.879C>T|p.Asn293Asn|1061/3539|879/1434|293/477||,A|splice_region_variant&synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|11/14|c.429C>T|p.Asn143Asn|1107/3585|429/984|143/327||,A|splice_region_variant&synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|11/14|c.915C>T|p.Asn305Asn|1021/3499|915/1470|305/489|| 22 45285621 . G A . . ANN=A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|9/12|c.1038+19C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|9/12|c.876+19C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|10/13|c.426+19C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|10/13|c.912+19C>T|||||| 22 45287218 . T C . . ANN=C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|8/13|c.983A>G|p.Tyr328Cys|1134/3670|983/1596|328/531||,C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|8/13|c.821A>G|p.Tyr274Cys|1003/3539|821/1434|274/477||,C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|9/14|c.371A>G|p.Tyr124Cys|1049/3585|371/984|124/327||,C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|9/14|c.857A>G|p.Tyr286Cys|963/3499|857/1470|286/489|| 22 45289325 . C T . . ANN=T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|7/12|c.960+12G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|7/12|c.798+12G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|8/13|c.348+12G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|8/13|c.834+12G>A|||||| 22 45291943 . C A . . ANN=A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|6/13|c.852G>T|p.Ala284Ala|1003/3670|852/1596|284/531||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|6/13|c.690G>T|p.Ala230Ala|872/3539|690/1434|230/477||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|7/14|c.240G>T|p.Ala80Ala|918/3585|240/984|80/327||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|7/14|c.726G>T|p.Ala242Ala|832/3499|726/1470|242/489|| 22 45291948 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|6/13|c.847G>A|p.Val283Ile|998/3670|847/1596|283/531||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|6/13|c.685G>A|p.Val229Ile|867/3539|685/1434|229/477||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|7/14|c.235G>A|p.Val79Ile|913/3585|235/984|79/327||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|7/14|c.721G>A|p.Val241Ile|827/3499|721/1470|241/489|| 22 45291975 . AACAG A . . ANN=A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|5/12|c.832-16_832-13delCTGT||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|5/12|c.670-16_670-13delCTGT||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|6/13|c.220-16_220-13delCTGT||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|6/13|c.706-16_706-13delCTGT|||||| 22 45309653 . C T . . ANN=T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|5/12|c.831+49G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|5/12|c.669+49G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|6/13|c.219+49G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|6/13|c.705+49G>A|||||| 22 45309673 . C T . . ANN=T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|5/12|c.831+29G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|5/12|c.669+29G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|6/13|c.219+29G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|6/13|c.705+29G>A|||||| 22 45309680 . C T . . ANN=T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|5/12|c.831+22G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|5/12|c.669+22G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|6/13|c.219+22G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|6/13|c.705+22G>A|||||| 22 45309685 . G A . . ANN=A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|5/12|c.831+17C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|5/12|c.669+17C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|6/13|c.219+17C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|6/13|c.705+17C>T|||||| 22 45309727 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|5/13|c.806G>A|p.Arg269Gln|957/3670|806/1596|269/531||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|5/13|c.644G>A|p.Arg215Gln|826/3539|644/1434|215/477||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|6/14|c.194G>A|p.Arg65Gln|872/3585|194/984|65/327||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|6/14|c.680G>A|p.Arg227Gln|786/3499|680/1470|227/489|| 22 45309851 . T C . . ANN=C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|5/13|c.682A>G|p.Ile228Val|833/3670|682/1596|228/531||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/12|c.529-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/13|c.79-9A>G||||||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/13|c.565-9A>G|||||| 22 45309892 . G C . . ANN=C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|5/13|c.641C>G|p.Thr214Ser|792/3670|641/1596|214/531||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/12|c.529-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/13|c.79-50C>G||||||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/13|c.565-50C>G|||||| 22 45312113 . T C . . ANN=C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/12|c.564+47A>G||||||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/12|c.528+47A>G||||||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/13|c.78+47A>G||||||,C|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/13|c.564+47A>G|||||| 22 45312124 . G A . . ANN=A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/12|c.564+36C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/12|c.528+36C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/13|c.78+36C>T||||||,A|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/13|c.564+36C>T|||||| 22 45312244 . G A . . ANN=A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.480C>T|p.Ala160Ala|631/3670|480/1596|160/531||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.444C>T|p.Ala148Ala|626/3539|444/1434|148/477||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.480C>T|p.Ala160Ala|586/3499|480/1470|160/489||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-7C>T||||||,A|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-7C>T|||||7| 22 45312245 . G A . . ANN=A|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.479C>T|p.Ala160Val|630/3670|479/1596|160/531||,A|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.443C>T|p.Ala148Val|625/3539|443/1434|148/477||,A|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.479C>T|p.Ala160Val|585/3499|479/1470|160/489||,A|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-8C>T|||||8| 22 45312274 . G A . . ANN=A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.450C>T|p.Tyr150Tyr|601/3670|450/1596|150/531||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.414C>T|p.Tyr138Tyr|596/3539|414/1434|138/477||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.450C>T|p.Tyr150Tyr|556/3499|450/1470|150/489||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-37C>T||||||,A|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-37C>T|||||37| 22 45312306 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.418G>A|p.Ala140Thr|569/3670|418/1596|140/531||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.382G>A|p.Ala128Thr|564/3539|382/1434|128/477||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.418G>A|p.Ala140Thr|524/3499|418/1470|140/489||,T|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-69G>A|||||69| 22 45312307 . G A . . ANN=A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.417C>T|p.Leu139Leu|568/3670|417/1596|139/531||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.381C>T|p.Leu127Leu|563/3539|381/1434|127/477||,A|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.417C>T|p.Leu139Leu|523/3499|417/1470|139/489||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-70C>T||||||,A|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-70C>T|||||70| 22 45312345 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.379G>A|p.Gly127Ser|530/3670|379/1596|127/531||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.343G>A|p.Gly115Ser|525/3539|343/1434|115/477||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.379G>A|p.Gly127Ser|485/3499|379/1470|127/489||,T|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-108G>A|||||108| 22 45312430 . G C . . ANN=C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.294C>G|p.Phe98Leu|445/3670|294/1596|98/531||,C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.258C>G|p.Phe86Leu|440/3539|258/1434|86/477||,C|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.294C>G|p.Phe98Leu|400/3499|294/1470|98/489||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-193C>G||||||,C|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-193C>G|||||193| 22 45312455 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.269G>A|p.Arg90Gln|420/3670|269/1596|90/531||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.233G>A|p.Arg78Gln|415/3539|233/1434|78/477||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.269G>A|p.Arg90Gln|375/3499|269/1470|90/489||,T|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-218G>A|||||218| 22 45312474 . C T . . ANN=T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_138415.4|Coding|4/13|c.250G>A|p.Val84Ile|401/3670|250/1596|84/531||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|4/13|c.214G>A|p.Val72Ile|396/3539|214/1434|72/477||,T|missense_variant|MODERATE|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|5/14|c.250G>A|p.Val84Ile|356/3499|250/1470|84/489||,T|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|5/14|c.-237G>A|||||237| 22 45316250 . C T . . ANN=T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|3/12|c.213+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|3/12|c.177+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|4/13|c.-274+28G>A||||||,T|intron_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|4/13|c.213+28G>A|||||| 22 45316293 . C T . . ANN=T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|3/13|c.198G>A|p.Ala66Ala|349/3670|198/1596|66/531||,T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|3/13|c.162G>A|p.Ala54Ala|344/3539|162/1434|54/477||,T|synonymous_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|4/14|c.198G>A|p.Ala66Ala|304/3499|198/1470|66/489||,T|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|4/14|c.-289G>A|||||4056| 22 45404497 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PHF21B|PHF21B|transcript|NM_138415.4|Coding|1/12|c.55-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|PHF21B|transcript|NM_001242450.1|Coding|1/12|c.19-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|PHF21B|transcript|NM_001284296.1|Coding|1/13|c.-478-6C>T||||||,A|splice_region_variant&intron_variant|LOW|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|2/13|c.55-6C>T|||||| 22 45405433 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|1/13|c.-3G>A|||||3|,T|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|2/14|c.-3G>A|||||3| 22 45405434 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_138415.4|Coding|1/13|c.-4C>G|||||4|,C|5_prime_UTR_variant|MODIFIER|PHF21B|PHF21B|transcript|NM_001135862.2|Coding|2/14|c.-4C>G|||||4| 22 45564028 . C T . . ANN=T|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_007172.3|Coding|1/7|c.-10-21C>T||||||,T|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_153645.2|Coding|1/8|c.-284-21C>T|||||| 22 45564161 . T G . . ANN=G|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_007172.3|Coding|2/7|c.69+34T>G||||||,G|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_153645.2|Coding|2/8|c.-206+34T>G|||||| 22 45567477 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|NUP50|NUP50|transcript|NM_007172.3|Coding|2/7|c.70-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP50|NUP50|transcript|NM_153645.2|Coding|3/8|c.-15-4G>T|||||| 22 45567544 . C T . . ANN=T|missense_variant|MODERATE|NUP50|NUP50|transcript|NM_007172.3|Coding|3/8|c.133C>T|p.Arg45Cys|595/5223|133/1407|45/468||,T|missense_variant|MODERATE|NUP50|NUP50|transcript|NM_153645.2|Coding|4/9|c.49C>T|p.Arg17Cys|421/5049|49/1323|17/440|| 22 45567580 . C A . . ANN=A|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_007172.3|Coding|3/7|c.153+16C>A||||||,A|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_153645.2|Coding|4/8|c.69+16C>A|||||| 22 45567585 . C A . . ANN=A|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_007172.3|Coding|3/7|c.153+21C>A||||||,A|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_153645.2|Coding|4/8|c.69+21C>A|||||| 22 45571735 . A C . . ANN=C|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_007172.3|Coding|3/7|c.154-40A>C||||||,C|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_153645.2|Coding|4/8|c.70-40A>C|||||| 22 45571887 . C T . . ANN=T|missense_variant|MODERATE|NUP50|NUP50|transcript|NM_007172.3|Coding|4/8|c.266C>T|p.Ser89Leu|728/5223|266/1407|89/468||,T|missense_variant|MODERATE|NUP50|NUP50|transcript|NM_153645.2|Coding|5/9|c.182C>T|p.Ser61Leu|554/5049|182/1323|61/440|| 22 45571926 . G A . . ANN=A|missense_variant|MODERATE|NUP50|NUP50|transcript|NM_007172.3|Coding|4/8|c.305G>A|p.Ser102Asn|767/5223|305/1407|102/468||,A|missense_variant|MODERATE|NUP50|NUP50|transcript|NM_153645.2|Coding|5/9|c.221G>A|p.Ser74Asn|593/5049|221/1323|74/440|| 22 45577231 . T C . . ANN=C|synonymous_variant|LOW|NUP50|NUP50|transcript|NM_007172.3|Coding|6/8|c.1068T>C|p.Asp356Asp|1530/5223|1068/1407|356/468||,C|synonymous_variant|LOW|NUP50|NUP50|transcript|NM_153645.2|Coding|7/9|c.984T>C|p.Asp328Asp|1356/5049|984/1323|328/440|| 22 45577260 . C G . . ANN=G|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_007172.3|Coding|6/7|c.1085+12C>G||||||,G|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_153645.2|Coding|7/8|c.1001+12C>G|||||| 22 45579422 . A G . . ANN=G|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_007172.3|Coding|7/7|c.1204+21A>G||||||,G|intron_variant|MODIFIER|NUP50|NUP50|transcript|NM_153645.2|Coding|8/8|c.1120+21A>G|||||| 22 45580435 . GAGA G . . ANN=|disruptive_inframe_deletion|MODERATE|NUP50|NUP50|transcript|NM_007172.3|Coding|8/8|c.1311_1313delGAA|p.Lys437del|1773/5223|1311/1407|437/468||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|NUP50|NUP50|transcript|NM_153645.2|Coding|9/9|c.1227_1229delGAA|p.Lys409del|1599/5049|1227/1323|409/440||INFO_REALIGN_3_PRIME 22 45580569 . G GTT . . ANN=TT|3_prime_UTR_variant|MODIFIER|NUP50|NUP50|transcript|NM_007172.3|Coding|8/8|c.*34_*35dupTT|||||36|INFO_REALIGN_3_PRIME,TT|3_prime_UTR_variant|MODIFIER|NUP50|NUP50|transcript|NM_153645.2|Coding|9/9|c.*34_*35dupTT|||||36|INFO_REALIGN_3_PRIME 22 45593055 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|10/10|c.*2C>T|||||2|,A|3_prime_UTR_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|10/10|c.*2C>T|||||2| 22 45593660 . G A . . ANN=A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|9/9|c.1189+11C>T||||||,A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|9/9|c.1174+11C>T|||||| 22 45593661 . C T . . ANN=T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|9/9|c.1189+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|9/9|c.1174+10G>A|||||| 22 45593696 . C T . . ANN=T|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|9/10|c.1164G>A|p.Thr388Thr|1287/6287|1164/1230|388/409||,T|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|9/10|c.1149G>A|p.Thr383Thr|1215/6215|1149/1215|383/404|| 22 45593765 . G A . . ANN=A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|9/10|c.1095C>T|p.Val365Val|1218/6287|1095/1230|365/409||,A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|9/10|c.1080C>T|p.Val360Val|1146/6215|1080/1215|360/404|| 22 45593873 . G A . . ANN=A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/9|c.1031-44C>T||||||,A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/9|c.1016-44C>T|||||| 22 45593874 . C T . . ANN=T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/9|c.1031-45G>A||||||,T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/9|c.1016-45G>A|||||| 22 45595707 . A G . . ANN=G|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/9|c.1030+47T>C||||||,G|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/9|c.1015+47T>C|||||| 22 45595721 . A G . . ANN=G|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/9|c.1030+33T>C||||||,G|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/9|c.1015+33T>C|||||| 22 45595726 . G A . . ANN=A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/9|c.1030+28C>T||||||,A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/9|c.1015+28C>T|||||| 22 45595797 . C T . . ANN=T|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/10|c.987G>A|p.Ser329Ser|1110/6287|987/1230|329/409||,T|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/10|c.972G>A|p.Ser324Ser|1038/6215|972/1215|324/404|| 22 45595833 . G C . . ANN=C|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/10|c.951C>G|p.Pro317Pro|1074/6287|951/1230|317/409||,C|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/10|c.936C>G|p.Pro312Pro|1002/6215|936/1215|312/404|| 22 45595872 . C A . . ANN=A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/10|c.912G>T|p.Arg304Arg|1035/6287|912/1230|304/409||,A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/10|c.897G>T|p.Arg299Arg|963/6215|897/1215|299/404|| 22 45595882 . C T . . ANN=T|missense_variant|MODERATE|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|8/10|c.902G>A|p.Arg301Gln|1025/6287|902/1230|301/409||,T|missense_variant|MODERATE|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|8/10|c.887G>A|p.Arg296Gln|953/6215|887/1215|296/404|| 22 45595946 . T C . . ANN=C|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|7/9|c.868-30A>G||||||,C|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|7/9|c.853-30A>G|||||| 22 45595949 . C T . . ANN=T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|7/9|c.868-33G>A||||||,T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|7/9|c.853-33G>A|||||| 22 45595963 . C T . . ANN=T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|7/9|c.868-47G>A||||||,T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|7/9|c.853-47G>A|||||| 22 45598833 . C T . . ANN=T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|7/9|c.867+38G>A||||||,T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|7/9|c.852+38G>A|||||| 22 45599054 . G A . . ANN=A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|7/10|c.684C>T|p.Ala228Ala|807/6287|684/1230|228/409||,A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|7/10|c.669C>T|p.Ala223Ala|735/6215|669/1215|223/404|| 22 45599099 . A G . . ANN=G|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|6/9|c.673-34T>C||||||,G|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|6/9|c.658-34T>C|||||| 22 45599712 . C T . . ANN=T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|6/9|c.672+14G>A||||||,T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|6/9|c.657+14G>A|||||| 22 45601214 . AT A . . ANN=A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|4/9|c.430-16delA||||||,A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|4/9|c.415-16delA|||||| 22 45601611 . G A . . ANN=A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|3/9|c.352-23C>T||||||,A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|3/9|c.337-23C>T|||||| 22 45601715 . C T . . ANN=T|missense_variant|MODERATE|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|3/10|c.310G>A|p.Asp104Asn|433/6287|310/1230|104/409||,T|missense_variant|MODERATE|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|3/10|c.295G>A|p.Asp99Asn|361/6215|295/1215|99/404|| 22 45607855 . G A . . ANN=A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|2/10|c.213C>T|p.Ser71Ser|336/6287|213/1230|71/409||,A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|2/10|c.198C>T|p.Ser66Ser|264/6215|198/1215|66/404|| 22 45608096 . G T . . ANN=T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|1/9|c.79+50C>A||||||,T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|1/9|c.65-108C>A|||||| 22 45608136 . C T . . ANN=T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|1/9|c.79+10G>A||||||,T|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|1/9|c.65-148G>A|||||| 22 45608192 . G A . . ANN=A|synonymous_variant|LOW|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|1/10|c.33C>T|p.Asn11Asn|156/6287|33/1230|11/409||,A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|1/9|c.65-204C>T|||||| 22 45608215 . G A . . ANN=A|stop_gained|HIGH|KIAA0930|KIAA0930|transcript|NM_015264.1|Coding|1/10|c.10C>T|p.Gln4*|133/6287|10/1230|4/409||,A|intron_variant|MODIFIER|KIAA0930|KIAA0930|transcript|NM_001009880.1|Coding|1/9|c.65-227C>T||||||;LOF=(KIAA0930|KIAA0930|2|0.50);NMD=(KIAA0930|KIAA0930|2|0.50) 22 45680870 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|1/6|c.-25G>C|||||25|,C|5_prime_UTR_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|1/4|c.-25G>C|||||25| 22 45681841 . A G . . ANN=G|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|2/6|c.72A>G|p.Gln24Gln|99/1046|72/864|24/287||,G|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/4|c.72A>G|p.Gln24Gln|99/683|72/501|24/166|| 22 45681859 . C T . . ANN=T|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|2/6|c.90C>T|p.Phe30Phe|117/1046|90/864|30/287||,T|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/4|c.90C>T|p.Phe30Phe|117/683|90/501|30/166|| 22 45681947 . G A . . ANN=A|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|2/6|c.178G>A|p.Glu60Lys|205/1046|178/864|60/287||,A|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/4|c.178G>A|p.Glu60Lys|205/683|178/501|60/166|| 22 45681971 . G A . . ANN=A|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|2/6|c.202G>A|p.Asp68Asn|229/1046|202/864|68/287||,A|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/4|c.202G>A|p.Asp68Asn|229/683|202/501|68/166|| 22 45682007 . C T . . ANN=T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|2/5|c.208+30C>T||||||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+30C>T|||||| 22 45683012 . C T . . ANN=T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|2/5|c.209-41C>T||||||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1035C>T|||||| 22 45683036 . C G . . ANN=G|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|2/5|c.209-17C>G||||||,G|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1059C>G|||||| 22 45683042 . C T . . ANN=T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|2/5|c.209-11C>T||||||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1065C>T|||||| 22 45683103 . T G . . ANN=G|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.259T>G|p.Ser87Ala|286/1046|259/864|87/287||,G|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1126T>G|||||| 22 45683104 . C A . . ANN=A|stop_gained|HIGH|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.260C>A|p.Ser87*|287/1046|260/864|87/287||,A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1127C>A||||||;LOF=(UPK3A|UPK3A|2|0.50);NMD=(UPK3A|UPK3A|2|0.50) 22 45683116 . A T . . ANN=T|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.272A>T|p.Gln91Leu|299/1046|272/864|91/287||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1139A>T|||||| 22 45683200 . T C . . ANN=C|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.356T>C|p.Ile119Thr|383/1046|356/864|119/287||,C|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1223T>C|||||| 22 45683246 . C T . . ANN=T|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.402C>T|p.Val134Val|429/1046|402/864|134/287||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1269C>T|||||| 22 45683280 . C T . . ANN=T|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.436C>T|p.Pro146Ser|463/1046|436/864|146/287||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1303C>T|||||| 22 45683291 . G C . . ANN=C|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.447G>C|p.Gln149His|474/1046|447/864|149/287||,C|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1314G>C|||||| 22 45683304 . G C . . ANN=C|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.460G>C|p.Ala154Pro|487/1046|460/864|154/287||,C|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1327G>C|||||| 22 45683306 . AC A . . ANN=|frameshift_variant|HIGH|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.466delC|p.Leu156fs|493/1046|466/864|156/287||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1333delC||||||INFO_REALIGN_3_PRIME;LOF=(UPK3A|UPK3A|2|0.50) 22 45683309 . C T . . ANN=T|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/6|c.465C>T|p.Pro155Pro|492/1046|465/864|155/287||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1332C>T|||||| 22 45683363 . C T . . ANN=T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/5|c.488+31C>T||||||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+1386C>T|||||| 22 45684894 . G A . . ANN=A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/5|c.489-48G>A||||||,A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+2917G>A|||||| 22 45684929 . C T . . ANN=T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|3/5|c.489-13C>T||||||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+2952C>T|||||| 22 45684998 . G A . . ANN=A|stop_gained|HIGH|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/6|c.545G>A|p.Trp182*|572/1046|545/864|182/287||,A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+3021G>A||||||;LOF=(UPK3A|UPK3A|2|0.50);NMD=(UPK3A|UPK3A|2|0.50) 22 45685002 . A G . . ANN=G|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/6|c.549A>G|p.Ser183Ser|576/1046|549/864|183/287||,G|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+3025A>G|||||| 22 45685024 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/6|c.571C>T|p.Leu191Phe|598/1046|571/864|191/287||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+3047C>T|||||| 22 45685025 . G A . . ANN=A|splice_donor_variant&intron_variant|HIGH|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/5|c.571+1G>A||||||,A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+3048G>A||||||;LOF=(UPK3A|UPK3A|2|0.50) 22 45685074 . C T . . ANN=T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/5|c.571+50C>T||||||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.208+3097C>T|||||| 22 45689024 . C T . . ANN=T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/5|c.572-38C>T||||||,T|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.209-38C>T|||||| 22 45689025 . G A . . ANN=A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/5|c.572-37G>A||||||,A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.209-37G>A|||||| 22 45689034 . G A . . ANN=A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/5|c.572-28G>A||||||,A|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.209-28G>A|||||| 22 45689043 . G C . . ANN=C|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/5|c.572-19G>C||||||,C|intron_variant|MODIFIER|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.209-19G>C|||||| 22 45689056 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|4/5|c.572-6C>T||||||,T|splice_region_variant&intron_variant|LOW|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|2/3|c.209-6C>T|||||| 22 45689078 . G A . . ANN=A|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|5/6|c.588G>A|p.Thr196Thr|615/1046|588/864|196/287||,A|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|3/4|c.225G>A|p.Thr75Thr|252/683|225/501|75/166|| 22 45689097 . C A . . ANN=A|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|5/6|c.607C>A|p.Arg203Arg|634/1046|607/864|203/287||,A|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|3/4|c.244C>A|p.Arg82Arg|271/683|244/501|82/166|| 22 45689118 . G A . . ANN=A|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|5/6|c.628G>A|p.Val210Ile|655/1046|628/864|210/287||,A|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|3/4|c.265G>A|p.Val89Ile|292/683|265/501|89/166|| 22 45689202 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|5/5|c.704+8C>G||||||,G|splice_region_variant&intron_variant|LOW|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|3/3|c.341+8C>G|||||| 22 45691521 . C T . . ANN=T|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_006953.3|Coding|6/6|c.785C>T|p.Ser262Leu|812/1046|785/864|262/287||,T|missense_variant|MODERATE|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|4/4|c.422C>T|p.Ser141Leu|449/683|422/501|141/166|| 22 45691594 . A G . . ANN=G|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_006953.3|Coding|6/6|c.858A>G|p.Gln286Gln|885/1046|858/864|286/287||,G|synonymous_variant|LOW|UPK3A|UPK3A|transcript|NM_001167574.1|Coding|4/4|c.495A>G|p.Gln165Gln|522/683|495/501|165/166|| 22 45718357 . C T . . ANN=T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|3/9|c.47+50C>T||||||,T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|2/8|c.47+50C>T|||||| 22 45719015 . C T . . ANN=T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|3/9|c.48-41C>T||||||,T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|2/8|c.48-41C>T|||||| 22 45719104 . G A . . ANN=A|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|4/10|c.96G>A|p.Leu32Leu|712/3240|96/1074|32/357||,A|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|3/9|c.96G>A|p.Leu32Leu|385/2913|96/1074|32/357|| 22 45719125 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|4/10|c.117C>T|p.Ser39Ser|733/3240|117/1074|39/357||,T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|3/9|c.117C>T|p.Ser39Ser|406/2913|117/1074|39/357|| 22 45719183 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|4/10|c.175G>A|p.Val59Ile|791/3240|175/1074|59/357||,A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|3/9|c.175G>A|p.Val59Ile|464/2913|175/1074|59/357|| 22 45719240 . C T . . ANN=T|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|4/10|c.232C>T|p.Arg78Trp|848/3240|232/1074|78/357||,T|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|3/9|c.232C>T|p.Arg78Trp|521/2913|232/1074|78/357|| 22 45719327 . C A . . ANN=A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|4/9|c.300+19C>A||||||,A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|3/8|c.300+19C>A|||||| 22 45723696 . G C . . ANN=C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|4/9|c.301-27G>C||||||,C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|3/8|c.301-27G>C|||||| 22 45723705 . C T . . ANN=T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|4/9|c.301-18C>T||||||,T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|3/8|c.301-18C>T|||||| 22 45723749 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.327C>T|p.Phe109Phe|943/3240|327/1074|109/357||,T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.327C>T|p.Phe109Phe|616/2913|327/1074|109/357|| 22 45723765 . A G . . ANN=G|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.343A>G|p.Met115Val|959/3240|343/1074|115/357||,G|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.343A>G|p.Met115Val|632/2913|343/1074|115/357|| 22 45723779 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.357C>T|p.Asp119Asp|973/3240|357/1074|119/357||,T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.357C>T|p.Asp119Asp|646/2913|357/1074|119/357|| 22 45723799 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.377G>A|p.Arg126Gln|993/3240|377/1074|126/357||,A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.377G>A|p.Arg126Gln|666/2913|377/1074|126/357|| 22 45723807 . G C . . ANN=C|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.385G>C|p.Val129Leu|1001/3240|385/1074|129/357||,C|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.385G>C|p.Val129Leu|674/2913|385/1074|129/357|| 22 45723813 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.391C>T|p.Leu131Leu|1007/3240|391/1074|131/357||,T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.391C>T|p.Leu131Leu|680/2913|391/1074|131/357|| 22 45723821 . G A . . ANN=A|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.399G>A|p.Ser133Ser|1015/3240|399/1074|133/357||,A|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.399G>A|p.Ser133Ser|688/2913|399/1074|133/357|| 22 45723842 . G A . . ANN=A|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.420G>A|p.Arg140Arg|1036/3240|420/1074|140/357||,A|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.420G>A|p.Arg140Arg|709/2913|420/1074|140/357|| 22 45723846 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.424G>A|p.Ala142Thr|1040/3240|424/1074|142/357||,A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.424G>A|p.Ala142Thr|713/2913|424/1074|142/357|| 22 45723854 . C G . . ANN=G|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.432C>G|p.Val144Val|1048/3240|432/1074|144/357||,G|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.432C>G|p.Val144Val|721/2913|432/1074|144/357|| 22 45723902 . G C . . ANN=C|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|5/10|c.480G>C|p.Gln160His|1096/3240|480/1074|160/357||,C|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|4/9|c.480G>C|p.Gln160His|769/2913|480/1074|160/357|| 22 45726601 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|6/10|c.640G>A|p.Ala214Thr|1256/3240|640/1074|214/357||,A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|5/9|c.640G>A|p.Ala214Thr|929/2913|640/1074|214/357|| 22 45726641 . C T . . ANN=T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|6/9|c.651+29C>T||||||,T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|5/8|c.651+29C>T|||||| 22 45728278 . A G . . ANN=G|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|6/9|c.652-28A>G||||||,G|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|5/8|c.652-28A>G|||||| 22 45728302 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|6/9|c.652-4C>T||||||,T|splice_region_variant&intron_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|5/8|c.652-4C>T|||||| 22 45728370 . G A . . ANN=A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/10|c.716G>A|p.Arg239His|1332/3240|716/1074|239/357||,A|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/9|c.716G>A|p.Arg239His|1005/2913|716/1074|239/357|| 22 45728482 . A G . . ANN=G|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/10|c.828A>G|p.Ala276Ala|1444/3240|828/1074|276/357||,G|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/9|c.828A>G|p.Ala276Ala|1117/2913|828/1074|276/357|| 22 45728524 . C T . . ANN=T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/10|c.870C>T|p.Asp290Asp|1486/3240|870/1074|290/357||,T|synonymous_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/9|c.870C>T|p.Asp290Asp|1159/2913|870/1074|290/357|| 22 45728540 . C G . . ANN=G|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/10|c.886C>G|p.Pro296Ala|1502/3240|886/1074|296/357||,G|missense_variant|MODERATE|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/9|c.886C>G|p.Pro296Ala|1175/2913|886/1074|296/357|| 22 45728596 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.937+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.937+5G>A|||||| 22 45728615 . C G . . ANN=G|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.937+24C>G||||||,G|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.937+24C>G|||||| 22 45728632 . CT C,CTTT,CTTTT . . ANN=C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.937+42delT||||||,CTTT|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.937+42_937+43insTT||||||,CTTTT|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.937+42_937+43insTTT||||||,C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.937+42delT||||||,CTTT|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.937+42_937+43insTT||||||,CTTTT|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.937+42_937+43insTTT|||||| 22 45731182 . C T . . ANN=T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.938-49C>T||||||,T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.938-49C>T|||||| 22 45731193 . T A . . ANN=A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.938-38T>A||||||,A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.938-38T>A|||||| 22 45731198 . C T . . ANN=T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.938-33C>T||||||,T|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.938-33C>T|||||| 22 45731199 . G A . . ANN=A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|7/9|c.938-32G>A||||||,A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|6/8|c.938-32G>A|||||| 22 45731279 . C A . . ANN=A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|8/9|c.970+16C>A||||||,A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|7/8|c.970+16C>A|||||| 22 45731303 . T C . . ANN=C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|8/9|c.970+40T>C||||||,C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|7/8|c.970+40T>C|||||| 22 45731304 . A G . . ANN=G|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|8/9|c.970+41A>G||||||,G|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|7/8|c.970+41A>G|||||| 22 45732165 . G A . . ANN=A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|8/9|c.971-44G>A||||||,A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|7/8|c.971-44G>A|||||| 22 45732175 . T C . . ANN=C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|8/9|c.971-34T>C||||||,C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|7/8|c.971-34T>C|||||| 22 45732313 . G A . . ANN=A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|9/9|c.1054+21G>A||||||,A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|8/8|c.1054+21G>A|||||| 22 45732328 . G A . . ANN=A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|9/9|c.1054+36G>A||||||,A|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|8/8|c.1054+36G>A|||||| 22 45736218 . T C . . ANN=C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|9/9|c.1055-49T>C||||||,C|intron_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|8/8|c.1055-49T>C|||||| 22 45736327 . T G . . ANN=G|3_prime_UTR_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_001104595.1|Coding|10/10|c.*41T>G|||||41|,G|3_prime_UTR_variant|MODIFIER|FAM118A|FAM118A|transcript|NM_017911.2|Coding|9/9|c.*41T>G|||||41| 22 45740401 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|25/25|c.*36G>C|||||36|,G|3_prime_UTR_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|23/23|c.*36G>C|||||36| 22 45740462 . C G . . ANN=G|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|25/25|c.3683G>C|p.Ser1228Thr|3735/4252|3683/3708|1228/1235||,G|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|23/23|c.3461G>C|p.Ser1154Thr|3513/4030|3461/3486|1154/1161|| 22 45741320 . C T . . ANN=T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|24/24|c.3606+20G>A||||||,T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|22/22|c.3384+20G>A|||||| 22 45741364 . G A . . ANN=A|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|24/25|c.3582C>T|p.Asp1194Asp|3634/4252|3582/3708|1194/1235||,A|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|22/23|c.3360C>T|p.Asp1120Asp|3412/4030|3360/3486|1120/1161|| 22 45741416 . T A . . ANN=A|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|24/25|c.3530A>T|p.Gln1177Leu|3582/4252|3530/3708|1177/1235||,A|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|22/23|c.3308A>T|p.Gln1103Leu|3360/4030|3308/3486|1103/1161|| 22 45745691 . T C . . ANN=C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|22/24|c.3426-13A>G||||||,C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|21/22|c.3273+4167A>G|||||| 22 45748284 . C CT . . ANN=CT|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|22/24|c.3425+46_3425+47insA||||||,CT|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|21/22|c.3273+1573_3273+1574insA|||||| 22 45748285 . T TC . . ANN=TC|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|22/24|c.3425+45_3425+46insG||||||,TC|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|21/22|c.3273+1572_3273+1573insG|||||| 22 45748302 . T G . . ANN=G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|22/24|c.3425+29A>C||||||,G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|21/22|c.3273+1556A>C|||||| 22 45748339 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|22/25|c.3417T>C|p.Ala1139Ala|3469/4252|3417/3708|1139/1235||,G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|21/22|c.3273+1519T>C|||||| 22 45749966 . G C . . ANN=C|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|21/25|c.3165C>G|p.Phe1055Leu|3217/4252|3165/3708|1055/1235||,C|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|21/23|c.3165C>G|p.Phe1055Leu|3217/4030|3165/3486|1055/1161|| 22 45749983 . G T . . ANN=T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|21/25|c.3148C>A|p.Leu1050Met|3200/4252|3148/3708|1050/1235||,T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|21/23|c.3148C>A|p.Leu1050Met|3200/4030|3148/3486|1050/1161|| 22 45750920 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|20/25|c.3037T>C|p.Leu1013Leu|3089/4252|3037/3708|1013/1235||,G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|20/23|c.3037T>C|p.Leu1013Leu|3089/4030|3037/3486|1013/1161|| 22 45754558 . A G . . ANN=G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|19/24|c.2961+19T>C||||||,G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|19/22|c.2961+19T>C|||||| 22 45755666 . C T . . ANN=T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|18/24|c.2862+19G>A||||||,T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|18/22|c.2862+19G>A|||||| 22 45755814 . T G . . ANN=G|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|18/25|c.2733A>C|p.Glu911Asp|2785/4252|2733/3708|911/1235||,G|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|18/23|c.2733A>C|p.Glu911Asp|2785/4030|2733/3486|911/1161|| 22 45755848 . C T . . ANN=T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|17/24|c.2709-10G>A||||||,T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|17/22|c.2709-10G>A|||||| 22 45755856 . T G . . ANN=G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|17/24|c.2709-18A>C||||||,G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|17/22|c.2709-18A>C|||||| 22 45755888 . G A . . ANN=A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|17/24|c.2709-50C>T||||||,A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|17/22|c.2709-50C>T|||||| 22 45758754 . T C . . ANN=C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|16/24|c.2562+11A>G||||||,C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|16/22|c.2562+11A>G|||||| 22 45758758 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|16/24|c.2562+7A>G||||||,C|splice_region_variant&intron_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|16/22|c.2562+7A>G|||||| 22 45767369 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|14/25|c.2295T>C|p.Phe765Phe|2347/4252|2295/3708|765/1235||,G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|14/23|c.2295T>C|p.Phe765Phe|2347/4030|2295/3486|765/1161|| 22 45767391 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|14/25|c.2273G>A|p.Arg758Gln|2325/4252|2273/3708|758/1235||,T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|14/23|c.2273G>A|p.Arg758Gln|2325/4030|2273/3486|758/1161|| 22 45767413 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|14/25|c.2251T>C|p.Leu751Leu|2303/4252|2251/3708|751/1235||,G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|14/23|c.2251T>C|p.Leu751Leu|2303/4030|2251/3486|751/1161|| 22 45767421 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|14/25|c.2243G>A|p.Cys748Tyr|2295/4252|2243/3708|748/1235||,T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|14/23|c.2243G>A|p.Cys748Tyr|2295/4030|2243/3486|748/1161|| 22 45767455 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|14/25|c.2209T>C|p.Leu737Leu|2261/4252|2209/3708|737/1235||,G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|14/23|c.2209T>C|p.Leu737Leu|2261/4030|2209/3486|737/1161|| 22 45767996 . G A . . ANN=A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|13/24|c.2196+39C>T||||||,A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|13/22|c.2196+39C>T|||||| 22 45779335 . A G . . ANN=G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|12/24|c.2058+12T>C||||||,G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|12/22|c.2058+12T>C|||||| 22 45779338 . T C . . ANN=C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|12/24|c.2058+9A>G||||||,C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|12/22|c.2058+9A>G|||||| 22 45782720 . A T . . ANN=T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|11/24|c.1911+27T>A||||||,T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|11/22|c.1911+27T>A|||||| 22 45782903 . T C . . ANN=C|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|11/25|c.1755A>G|p.Leu585Leu|1807/4252|1755/3708|585/1235||,C|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|11/23|c.1755A>G|p.Leu585Leu|1807/4030|1755/3486|585/1161|| 22 45785562 . T C . . ANN=C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|10/24|c.1731+30A>G||||||,C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|10/22|c.1731+30A>G|||||| 22 45785574 . G T . . ANN=T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|10/24|c.1731+18C>A||||||,T|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|10/22|c.1731+18C>A|||||| 22 45789642 . A C . . ANN=C|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|9/25|c.1417T>G|p.Phe473Val|1469/4252|1417/3708|473/1235||,C|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|9/23|c.1417T>G|p.Phe473Val|1469/4030|1417/3486|473/1161|| 22 45789743 . T G . . ANN=G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|8/24|c.1338-22A>C||||||,G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|8/22|c.1338-22A>C|||||| 22 45792291 . G C . . ANN=C|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|7/25|c.1189C>G|p.Gln397Glu|1241/4252|1189/3708|397/1235||,C|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|7/23|c.1189C>G|p.Gln397Glu|1241/4030|1189/3486|397/1161|| 22 45792359 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|7/25|c.1121G>A|p.Arg374His|1173/4252|1121/3708|374/1235||,T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|7/23|c.1121G>A|p.Arg374His|1173/4030|1121/3486|374/1161|| 22 45794925 . C A . . ANN=A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|6/24|c.1113+50G>T||||||,A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|6/22|c.1113+50G>T|||||| 22 45794996 . G A . . ANN=A|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|6/25|c.1092C>T|p.Asp364Asp|1144/4252|1092/3708|364/1235||,A|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|6/23|c.1092C>T|p.Asp364Asp|1144/4030|1092/3486|364/1161|| 22 45795041 . A T . . ANN=T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|6/25|c.1047T>A|p.Ser349Arg|1099/4252|1047/3708|349/1235||,T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|6/23|c.1047T>A|p.Ser349Arg|1099/4030|1047/3486|349/1161|| 22 45795126 . T C . . ANN=C|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|6/25|c.962A>G|p.Asp321Gly|1014/4252|962/3708|321/1235||,C|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|6/23|c.962A>G|p.Asp321Gly|1014/4030|962/3486|321/1161|| 22 45798329 . A G . . ANN=G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|5/25|c.738T>C|p.Asn246Asn|790/4252|738/3708|246/1235||,G|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|5/23|c.738T>C|p.Asn246Asn|790/4030|738/3486|246/1161|| 22 45798386 . T C . . ANN=C|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|5/25|c.681A>G|p.Gln227Gln|733/4252|681/3708|227/1235||,C|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|5/23|c.681A>G|p.Gln227Gln|733/4030|681/3486|227/1161|| 22 45802407 . C T . . ANN=T|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|4/25|c.549G>A|p.Gln183Gln|601/4252|549/3708|183/1235||,T|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|4/23|c.549G>A|p.Gln183Gln|601/4030|549/3486|183/1161|| 22 45802704 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|3/25|c.341G>A|p.Arg114His|393/4252|341/3708|114/1235||,T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|3/23|c.341G>A|p.Arg114His|393/4030|341/3486|114/1161|| 22 45802760 . AT A . . ANN=A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|2/24|c.299-15delA||||||,A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|2/22|c.299-15delA|||||| 22 45802789 . C A . . ANN=A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|2/24|c.299-43G>T||||||,A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|2/22|c.299-43G>T|||||| 22 45804568 . GA G . . ANN=G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|2/24|c.298+22delT||||||,G|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|2/22|c.298+22delT|||||| 22 45804621 . C T . . ANN=T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_148674.4|Coding|2/25|c.268G>A|p.Glu90Lys|320/4252|268/3708|90/1235||,T|missense_variant|MODERATE|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|2/23|c.268G>A|p.Glu90Lys|320/4030|268/3486|90/1161|| 22 45804825 . A C . . ANN=C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|1/24|c.110-46T>G||||||,C|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|1/22|c.110-46T>G|||||| 22 45809325 . G A . . ANN=A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_148674.4|Coding|1/24|c.109+15C>T||||||,A|intron_variant|MODIFIER|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|1/22|c.109+15C>T|||||| 22 45809431 . C T . . ANN=T|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_148674.4|Coding|1/25|c.18G>A|p.Leu6Leu|70/4252|18/3708|6/1235||,T|synonymous_variant|LOW|SMC1B|SMC1B|transcript|NM_001291501.1|Coding|1/23|c.18G>A|p.Leu6Leu|70/4030|18/3486|6/1161|| 22 45914528 . A G . . ANN=G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|1/16|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|1/14|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|1/14|c.80-34A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|1/14|c.80-34A>G|||||| 22 45914534 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|1/16|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|1/14|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|1/14|c.80-28C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|1/14|c.80-28C>T|||||| 22 45914541 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|1/16|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|1/14|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|1/14|c.80-21C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|1/14|c.80-21C>T|||||| 22 45914595 . C T . . ANN=T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|2/17|c.113C>T|p.Ala38Val|260/2947|113/2112|38/703||,T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|2/15|c.113C>T|p.Ala38Val|260/2485|113/1701|38/566||,T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|2/15|c.113C>T|p.Ala38Val|260/2295|113/2052|38/683||,T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|2/15|c.113C>T|p.Ala38Val|260/2662|113/1806|38/601|| 22 45914671 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|2/16|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|2/14|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|2/14|c.185+4C>T||||||,T|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|2/14|c.185+4C>T|||||| 22 45914675 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|2/16|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|2/14|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|2/14|c.185+8T>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|2/14|c.185+8T>C|||||| 22 45914692 . T G . . ANN=G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|2/16|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|2/14|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|2/14|c.185+25T>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|2/14|c.185+25T>G|||||| 22 45914714 . G C . . ANN=C|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|2/16|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|2/14|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|2/14|c.185+47G>C||||||,C|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|2/14|c.185+47G>C|||||| 22 45921549 . A G . . ANN=G|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|3/17|c.312A>G|p.Thr104Thr|459/2947|312/2112|104/703||,G|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|3/15|c.312A>G|p.Thr104Thr|459/2485|312/1701|104/566||,G|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|3/15|c.312A>G|p.Thr104Thr|459/2295|312/2052|104/683||,G|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|3/15|c.312A>G|p.Thr104Thr|459/2662|312/1806|104/601|| 22 45923827 . A G . . ANN=G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|4/17|c.422A>G|p.Gln141Arg|569/2947|422/2112|141/703||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|4/15|c.422A>G|p.Gln141Arg|569/2485|422/1701|141/566||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|4/15|c.422A>G|p.Gln141Arg|569/2295|422/2052|141/683||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|4/15|c.422A>G|p.Gln141Arg|569/2662|422/1806|141/601|| 22 45923870 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|4/17|c.465C>T|p.Val155Val|612/2947|465/2112|155/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|4/15|c.465C>T|p.Val155Val|612/2485|465/1701|155/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|4/15|c.465C>T|p.Val155Val|612/2295|465/2052|155/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|4/15|c.465C>T|p.Val155Val|612/2662|465/1806|155/601|| 22 45923886 . A G . . ANN=G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|4/17|c.481A>G|p.Thr161Ala|628/2947|481/2112|161/703||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|4/15|c.481A>G|p.Thr161Ala|628/2485|481/1701|161/566||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|4/15|c.481A>G|p.Thr161Ala|628/2295|481/2052|161/683||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|4/15|c.481A>G|p.Thr161Ala|628/2662|481/1806|161/601|| 22 45923894 . C A . . ANN=A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|4/16|c.484+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|4/14|c.484+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|4/14|c.484+5C>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|4/14|c.484+5C>A|||||| 22 45923937 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|4/16|c.484+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|4/14|c.484+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|4/14|c.484+48C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|4/14|c.484+48C>T|||||| 22 45927112 . A G . . ANN=G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|4/16|c.485-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|4/14|c.485-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|4/14|c.485-33A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|4/14|c.485-33A>G|||||| 22 45927150 . A G . . ANN=G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|5/17|c.490A>G|p.Ile164Val|637/2947|490/2112|164/703||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|5/15|c.490A>G|p.Ile164Val|637/2485|490/1701|164/566||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|5/15|c.490A>G|p.Ile164Val|637/2295|490/2052|164/683||,G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|5/15|c.490A>G|p.Ile164Val|637/2662|490/1806|164/601|| 22 45927220 . C G . . ANN=G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|5/16|c.544+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|5/14|c.544+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|5/14|c.544+16C>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|5/14|c.544+16C>G|||||| 22 45928895 . C A . . ANN=A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|5/16|c.545-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|5/14|c.545-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|5/14|c.545-48C>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|5/14|c.545-48C>A|||||| 22 45928950 . G A . . ANN=A|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|6/17|c.552G>A|p.Gly184Gly|699/2947|552/2112|184/703||,A|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|6/15|c.552G>A|p.Gly184Gly|699/2485|552/1701|184/566||,A|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|6/15|c.552G>A|p.Gly184Gly|699/2295|552/2052|184/683||,A|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|6/15|c.552G>A|p.Gly184Gly|699/2662|552/1806|184/601|| 22 45929080 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|6/16|c.646+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|6/14|c.646+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|6/14|c.646+36C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|6/14|c.646+36C>T|||||| 22 45929594 . TG T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|6/16|c.647-46delG||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|6/14|c.647-46delG||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|6/14|c.647-46delG||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|6/14|c.647-46delG|||||| 22 45929597 . GT G . . ANN=G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|6/16|c.647-43delT||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|6/14|c.647-43delT||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|6/14|c.647-43delT||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|6/14|c.647-43delT|||||| 22 45929614 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|6/16|c.647-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|6/14|c.647-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|6/14|c.647-27C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|6/14|c.647-27C>T|||||| 22 45929618 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|6/16|c.647-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|6/14|c.647-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|6/14|c.647-23C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|6/14|c.647-23C>T|||||| 22 45929694 . A C . . ANN=C|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|7/17|c.700A>C|p.Ile234Leu|847/2947|700/2112|234/703||,C|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|7/15|c.700A>C|p.Ile234Leu|847/2485|700/1701|234/566||,C|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|7/15|c.700A>C|p.Ile234Leu|847/2295|700/2052|234/683||,C|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|7/15|c.700A>C|p.Ile234Leu|847/2662|700/1806|234/601|| 22 45929816 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|7/16|c.784+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|7/14|c.784+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|7/14|c.784+38C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|7/14|c.784+38C>T|||||| 22 45929820 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|7/16|c.784+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|7/14|c.784+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|7/14|c.784+42C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|7/14|c.784+42C>T|||||| 22 45929828 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|7/16|c.784+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|7/14|c.784+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|7/14|c.784+50C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|7/14|c.784+50C>T|||||| 22 45931223 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|8/16|c.922+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|8/14|c.922+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|8/14|c.922+6A>C||||||,C|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|8/14|c.922+6A>C|||||| 22 45931231 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|8/16|c.922+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|8/14|c.922+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|8/14|c.922+14C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|8/14|c.922+14C>T|||||| 22 45931243 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|8/16|c.922+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|8/14|c.922+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|8/14|c.922+26C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|8/14|c.922+26C>T|||||| 22 45931244 . G A . . ANN=A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|8/16|c.922+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|8/14|c.922+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|8/14|c.922+27G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|8/14|c.922+27G>A|||||| 22 45931262 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|8/16|c.922+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|8/14|c.922+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|8/14|c.922+45C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|8/14|c.922+45C>T|||||| 22 45937061 . G A . . ANN=A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|8/16|c.923-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|8/14|c.923-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|8/14|c.923-48G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|8/14|c.923-48G>A|||||| 22 45937102 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|8/16|c.923-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|8/14|c.923-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|8/14|c.923-7G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|8/14|c.923-7G>A|||||| 22 45937143 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|9/17|c.957C>T|p.Cys319Cys|1104/2947|957/2112|319/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|9/15|c.957C>T|p.Cys319Cys|1104/2485|957/1701|319/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|9/15|c.957C>T|p.Cys319Cys|1104/2295|957/2052|319/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|9/15|c.957C>T|p.Cys319Cys|1104/2662|957/1806|319/601|| 22 45937149 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|9/17|c.963C>T|p.Ile321Ile|1110/2947|963/2112|321/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|9/15|c.963C>T|p.Ile321Ile|1110/2485|963/1701|321/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|9/15|c.963C>T|p.Ile321Ile|1110/2295|963/2052|321/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|9/15|c.963C>T|p.Ile321Ile|1110/2662|963/1806|321/601|| 22 45938087 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|10/17|c.1119C>T|p.Cys373Cys|1266/2947|1119/2112|373/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|10/15|c.1119C>T|p.Cys373Cys|1266/2485|1119/1701|373/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|10/15|c.1119C>T|p.Cys373Cys|1266/2295|1119/2052|373/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|10/15|c.1119C>T|p.Cys373Cys|1266/2662|1119/1806|373/601|| 22 45938088 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|10/17|c.1120G>A|p.Val374Met|1267/2947|1120/2112|374/703||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|10/15|c.1120G>A|p.Val374Met|1267/2485|1120/1701|374/566||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|10/15|c.1120G>A|p.Val374Met|1267/2295|1120/2052|374/683||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|10/15|c.1120G>A|p.Val374Met|1267/2662|1120/1806|374/601|| 22 45938204 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|10/16|c.1195+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|10/14|c.1195+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|10/14|c.1195+41C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|10/14|c.1195+41C>T|||||| 22 45939294 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|11/17|c.1209C>T|p.Cys403Cys|1356/2947|1209/2112|403/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|11/15|c.1209C>T|p.Cys403Cys|1356/2485|1209/1701|403/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|11/15|c.1209C>T|p.Cys403Cys|1356/2295|1209/2052|403/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|11/15|c.1209C>T|p.Cys403Cys|1356/2662|1209/1806|403/601|| 22 45939320 . G T . . ANN=T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|11/17|c.1235G>T|p.Gly412Val|1382/2947|1235/2112|412/703||,T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|11/15|c.1235G>T|p.Gly412Val|1382/2485|1235/1701|412/566||,T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|11/15|c.1235G>T|p.Gly412Val|1382/2295|1235/2052|412/683||,T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|11/15|c.1235G>T|p.Gly412Val|1382/2662|1235/1806|412/601|| 22 45942925 . G A . . ANN=A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|11/16|c.1322-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|11/14|c.1322-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|11/14|c.1322-40G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|11/14|c.1322-40G>A|||||| 22 45942951 . G A . . ANN=A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|11/16|c.1322-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|11/14|c.1322-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|11/14|c.1322-14G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|11/14|c.1322-14G>A|||||| 22 45943011 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|12/17|c.1368C>T|p.Asn456Asn|1515/2947|1368/2112|456/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|12/15|c.1368C>T|p.Asn456Asn|1515/2485|1368/1701|456/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|12/15|c.1368C>T|p.Asn456Asn|1515/2295|1368/2052|456/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|12/15|c.1368C>T|p.Asn456Asn|1515/2662|1368/1806|456/601|| 22 45943089 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|12/16|c.1441+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|12/14|c.1441+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|12/14|c.1441+5G>A||||||,A|splice_region_variant&intron_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|12/14|c.1441+5G>A|||||| 22 45943093 . G A . . ANN=A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|12/16|c.1441+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|12/14|c.1441+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|12/14|c.1441+9G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|12/14|c.1441+9G>A|||||| 22 45943107 . A C . . ANN=C|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|12/16|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|12/14|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|12/14|c.1441+23A>C||||||,C|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|12/14|c.1441+23A>C|||||| 22 45943115 . A G . . ANN=G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|12/16|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|12/14|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|12/14|c.1441+31A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|12/14|c.1441+31A>G|||||| 22 45943134 . A G . . ANN=G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|12/16|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|12/14|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|12/14|c.1441+50A>G||||||,G|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|12/14|c.1441+50A>G|||||| 22 45944495 . A T . . ANN=T|missense_variant&splice_region_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|13/17|c.1444A>T|p.Ile482Phe|1591/2947|1444/2112|482/703||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|13/15|c.1444A>T|p.Ile482Phe|1591/2485|1444/1701|482/566||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|13/15|c.1444A>T|p.Ile482Phe|1591/2295|1444/2052|482/683||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|13/15|c.1444A>T|p.Ile482Phe|1591/2662|1444/1806|482/601|| 22 45944507 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|13/17|c.1456G>A|p.Ala486Thr|1603/2947|1456/2112|486/703||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|13/15|c.1456G>A|p.Ala486Thr|1603/2485|1456/1701|486/566||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|13/15|c.1456G>A|p.Ala486Thr|1603/2295|1456/2052|486/683||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|13/15|c.1456G>A|p.Ala486Thr|1603/2662|1456/1806|486/601|| 22 45944518 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|13/17|c.1467C>T|p.Thr489Thr|1614/2947|1467/2112|489/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|13/15|c.1467C>T|p.Thr489Thr|1614/2485|1467/1701|489/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|13/15|c.1467C>T|p.Thr489Thr|1614/2295|1467/2052|489/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|13/15|c.1467C>T|p.Thr489Thr|1614/2662|1467/1806|489/601|| 22 45944593 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|13/17|c.1542C>T|p.Tyr514Tyr|1689/2947|1542/2112|514/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|13/15|c.1542C>T|p.Tyr514Tyr|1689/2485|1542/1701|514/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|13/15|c.1542C>T|p.Tyr514Tyr|1689/2295|1542/2052|514/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|13/15|c.1542C>T|p.Tyr514Tyr|1689/2662|1542/1806|514/601|| 22 45944657 . G A . . ANN=A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|13/16|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006487.2|Coding|13/14|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|13/14|c.1573+33G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|13/14|c.1573+33G>A|||||| 22 45946460 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/17|c.1662C>T|p.Phe554Phe|1809/2947|1662/2112|554/703||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006487.2|Coding|14/15|c.1662C>T|p.Phe554Phe|1809/2485|1662/1701|554/566||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|14/15|c.1662C>T|p.Phe554Phe|1809/2295|1662/2052|554/683||,T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/15|c.1662C>T|p.Phe554Phe|1809/2662|1662/1806|554/601|| 22 45946488 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/17|c.1690G>A|p.Ala564Thr|1837/2947|1690/2112|564/703||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|14/15|c.1690G>A|p.Ala564Thr|1837/2485|1690/1701|564/566||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|14/15|c.1690G>A|p.Ala564Thr|1837/2295|1690/2052|564/683||,A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/15|c.1690G>A|p.Ala564Thr|1837/2662|1690/1806|564/601|| 22 45946495 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/17|c.1697C>T|p.Thr566Met|1844/2947|1697/2112|566/703||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006487.2|Coding|14/15|c.1697C>T|p.Thr566Ile|1844/2485|1697/1701|566/566||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|14/15|c.1697C>T|p.Thr566Ile|1844/2295|1697/2052|566/683||,T|missense_variant&splice_region_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/15|c.1697C>T|p.Thr566Met|1844/2662|1697/1806|566/601|| 22 45958823 . C T . . ANN=T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|15/15|c.1729C>T|p.Arg577Trp|1876/2295|1729/2052|577/683||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-11568C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/14|c.1698-1941C>T|||||| 22 45958897 . G A . . ANN=A|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|15/15|c.1803G>A|p.Ala601Ala|1950/2295|1803/2052|601/683||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-11494G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/14|c.1698-1867G>A|||||| 22 45958933 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|15/15|c.1839C>T|p.Pro613Pro|1986/2295|1839/2052|613/683||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-11458C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/14|c.1698-1831C>T|||||| 22 45958934 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_001996.3|Coding|15/15|c.1840G>A|p.Gly614Arg|1987/2295|1840/2052|614/683||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-11457G>A||||||,A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/14|c.1698-1830G>A|||||| 22 45959089 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_001996.3|Coding|15/15|c.1995C>T|p.His665His|2142/2295|1995/2052|665/683||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-11302C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/14|c.1698-1675C>T|||||| 22 45959157 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_001996.3|Coding|15/15|c.*11C>T|||||11|,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-11234C>T||||||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006485.3|Coding|14/14|c.1698-1607C>T|||||| 22 45960778 . AG A . . ANN=|frameshift_variant|HIGH|FBLN1|FBLN1|transcript|NM_006485.3|Coding|15/15|c.1715delG|p.Gly572fs|1862/2662|1715/1806|572/601||INFO_REALIGN_3_PRIME,|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-9610delG||||||INFO_REALIGN_3_PRIME 22 45960864 . G T . . ANN=T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006485.3|Coding|15/15|c.1798G>T|p.Asp600Tyr|1945/2662|1798/1806|600/601||,T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-9527G>T|||||| 22 45970360 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-31C>T|||||| 22 45970369 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|14/16|c.1698-22C>T|||||| 22 45970414 . C T . . ANN=T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|15/17|c.1721C>T|p.Thr574Met|1868/2947|1721/2112|574/703|| 22 45970559 . C T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|15/16|c.1840+26C>T|||||| 22 45970572 . G T . . ANN=T|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|15/16|c.1840+39G>T|||||| 22 45970582 . G A . . ANN=A|intron_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|15/16|c.1840+49G>A|||||| 22 45972871 . C T . . ANN=T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|16/17|c.1855C>T|p.Arg619Trp|2002/2947|1855/2112|619/703|| 22 45972888 . G A . . ANN=A|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|16/17|c.1872G>A|p.Pro624Pro|2019/2947|1872/2112|624/703|| 22 45972941 . G T . . ANN=T|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|16/17|c.1925G>T|p.Arg642Leu|2072/2947|1925/2112|642/703|| 22 45972983 . C A . . ANN=A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|16/17|c.1967C>A|p.Thr656Asn|2114/2947|1967/2112|656/703|| 22 45996239 . G A . . ANN=A|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|17/17|c.2025G>A|p.Lys675Lys|2172/2947|2025/2112|675/703|| 22 45996254 . T C . . ANN=C|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|17/17|c.2040T>C|p.Tyr680Tyr|2187/2947|2040/2112|680/703|| 22 45996266 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|17/17|c.2052C>T|p.Gly684Gly|2199/2947|2052/2112|684/703|| 22 45996280 . G A . . ANN=A|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|17/17|c.2066G>A|p.Arg689Gln|2213/2947|2066/2112|689/703|| 22 45996293 . C T . . ANN=T|synonymous_variant|LOW|FBLN1|FBLN1|transcript|NM_006486.2|Coding|17/17|c.2079C>T|p.Asn693Asn|2226/2947|2079/2112|693/703|| 22 45996298 . A G . . ANN=G|missense_variant|MODERATE|FBLN1|FBLN1|transcript|NM_006486.2|Coding|17/17|c.2084A>G|p.His695Arg|2231/2947|2084/2112|695/703|| 22 45996361 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|FBLN1|FBLN1|transcript|NM_006486.2|Coding|17/17|c.*35C>G|||||35| 22 46067998 . C T . . ANN=T|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|1/12|c.55C>T|p.Pro19Ser|321/3330|55/1428|19/475||,T|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|1/11|c.55C>T|p.Pro19Ser|321/3138|55/1236|19/411|| 22 46085654 . C T . . ANN=T|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|2/12|c.179C>T|p.Ala60Val|445/3330|179/1428|60/475||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|1/10|c.117-3222C>T|||||| 22 46085671 . A G . . ANN=G|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|2/12|c.196A>G|p.Arg66Gly|462/3330|196/1428|66/475||,G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|1/10|c.117-3205A>G|||||| 22 46085782 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|2/12|c.307A>G|p.Arg103Gly|573/3330|307/1428|103/475||,G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|1/10|c.117-3094A>G|||||| 22 46085795 . C T . . ANN=T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|2/11|c.308+12C>T||||||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|1/10|c.117-3081C>T|||||| 22 46088888 . G A . . ANN=A|synonymous_variant|LOW|ATXN10|ATXN10|transcript|NM_013236.3|Coding|3/12|c.321G>A|p.Thr107Thr|587/3330|321/1428|107/475||,A|synonymous_variant|LOW|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|2/11|c.129G>A|p.Thr43Thr|395/3138|129/1236|43/411|| 22 46088894 . T C . . ANN=C|synonymous_variant|LOW|ATXN10|ATXN10|transcript|NM_013236.3|Coding|3/12|c.327T>C|p.Gly109Gly|593/3330|327/1428|109/475||,C|synonymous_variant|LOW|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|2/11|c.135T>C|p.Gly45Gly|401/3138|135/1236|45/411|| 22 46088977 . C T . . ANN=T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|3/11|c.391+19C>T||||||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|2/10|c.199+19C>T|||||| 22 46088978 . A G . . ANN=G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|3/11|c.391+20A>G||||||,G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|2/10|c.199+20A>G|||||| 22 46088993 . C G . . ANN=G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|3/11|c.391+35C>G||||||,G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|2/10|c.199+35C>G|||||| 22 46089008 . A G . . ANN=G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|3/11|c.391+50A>G||||||,G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|2/10|c.199+50A>G|||||| 22 46096174 . G T . . ANN=T|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|4/12|c.404G>T|p.Gly135Val|670/3330|404/1428|135/475||,T|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|3/11|c.212G>T|p.Gly71Val|478/3138|212/1236|71/411|| 22 46114244 . C T . . ANN=T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|5/11|c.648-49C>T||||||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|4/10|c.456-49C>T|||||| 22 46114249 . A G . . ANN=G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|5/11|c.648-44A>G||||||,G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|4/10|c.456-44A>G|||||| 22 46114289 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|ATXN10|ATXN10|transcript|NM_013236.3|Coding|5/11|c.648-4C>G||||||,G|splice_region_variant&intron_variant|LOW|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|4/10|c.456-4C>G|||||| 22 46114398 . G T . . ANN=T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|6/11|c.728+25G>T||||||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|5/10|c.536+25G>T|||||| 22 46125284 . G T . . ANN=T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|6/11|c.729-21G>T||||||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|5/10|c.537-21G>T|||||| 22 46125296 . G A . . ANN=A|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|6/11|c.729-9G>A||||||,A|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|5/10|c.537-9G>A|||||| 22 46125385 . G A . . ANN=A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|7/12|c.809G>A|p.Arg270Gln|1075/3330|809/1428|270/475||,A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|6/11|c.617G>A|p.Arg206Gln|883/3138|617/1236|206/411|| 22 46125442 . T A . . ANN=A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|7/12|c.866T>A|p.Leu289Gln|1132/3330|866/1428|289/475||,A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|6/11|c.674T>A|p.Leu225Gln|940/3138|674/1236|225/411|| 22 46125462 . G A . . ANN=A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|7/12|c.886G>A|p.Asp296Asn|1152/3330|886/1428|296/475||,A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|6/11|c.694G>A|p.Asp232Asn|960/3138|694/1236|232/411|| 22 46125480 . G T . . ANN=T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|7/11|c.894+10G>T||||||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|6/10|c.702+10G>T|||||| 22 46136298 . C T . . ANN=T|synonymous_variant|LOW|ATXN10|ATXN10|transcript|NM_013236.3|Coding|9/12|c.1053C>T|p.Phe351Phe|1319/3330|1053/1428|351/475||,T|synonymous_variant|LOW|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|8/11|c.861C>T|p.Phe287Phe|1127/3138|861/1236|287/411|| 22 46136372 . G A . . ANN=A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|9/12|c.1127G>A|p.Arg376His|1393/3330|1127/1428|376/475||,A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|8/11|c.935G>A|p.Arg312His|1201/3138|935/1236|312/411|| 22 46136438 . T C . . ANN=C|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|9/11|c.1173+20T>C||||||,C|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|8/10|c.981+20T>C|||||| 22 46202819 . C T . . ANN=T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|9/11|c.1174-20C>T||||||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|8/10|c.982-20C>T|||||| 22 46202925 . A G . . ANN=G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|10/11|c.1237+23A>G||||||,G|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|9/10|c.1045+23A>G|||||| 22 46238838 . G A . . ANN=A|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|10/11|c.1238-33G>A||||||,A|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|9/10|c.1046-33G>A|||||| 22 46238911 . C T . . ANN=T|synonymous_variant|LOW|ATXN10|ATXN10|transcript|NM_013236.3|Coding|11/12|c.1278C>T|p.Thr426Thr|1544/3330|1278/1428|426/475||,T|synonymous_variant|LOW|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|10/11|c.1086C>T|p.Thr362Thr|1352/3138|1086/1236|362/411|| 22 46238914 . A C . . ANN=C|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|11/12|c.1281A>C|p.Glu427Asp|1547/3330|1281/1428|427/475||,C|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|10/11|c.1089A>C|p.Glu363Asp|1355/3138|1089/1236|363/411|| 22 46238930 . C A . . ANN=A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_013236.3|Coding|11/12|c.1297C>A|p.Gln433Lys|1563/3330|1297/1428|433/475||,A|missense_variant|MODERATE|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|10/11|c.1105C>A|p.Gln369Lys|1371/3138|1105/1236|369/411|| 22 46239534 . TTTC T . . ANN=T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_013236.3|Coding|11/11|c.1426-14_1426-12delTTC||||||,T|intron_variant|MODIFIER|ATXN10|ATXN10|transcript|NM_001167621.1|Coding|10/10|c.1234-14_1234-12delTTC|||||| 22 46318697 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.*39G>A|||||39| 22 46318726 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.*10C>T|||||10| 22 46318739 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.1047G>A|p.Lys349Lys|1421/3912|1047/1050|349/349|| 22 46318757 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.1029C>T|p.Thr343Thr|1403/3912|1029/1050|343/349|| 22 46318859 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.927C>T|p.Cys309Cys|1301/3912|927/1050|309/349|| 22 46318880 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.906C>T|p.Asp302Asp|1280/3912|906/1050|302/349|| 22 46318884 . G A . . ANN=A|missense_variant|MODERATE|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.902C>T|p.Ala301Val|1276/3912|902/1050|301/349|| 22 46318892 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.894G>A|p.Ser298Ser|1268/3912|894/1050|298/349|| 22 46318934 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.852G>A|p.Thr284Thr|1226/3912|852/1050|284/349|| 22 46319014 . G A . . ANN=A|missense_variant|MODERATE|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.772C>T|p.Arg258Cys|1146/3912|772/1050|258/349|| 22 46319036 . G T . . ANN=T|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.750C>A|p.Thr250Thr|1124/3912|750/1050|250/349|| 22 46319063 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.723G>A|p.Val241Val|1097/3912|723/1050|241/349|| 22 46319159 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.627C>T|p.Cys209Cys|1001/3912|627/1050|209/349|| 22 46319177 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|4/4|c.609C>T|p.His203His|983/3912|609/1050|203/349|| 22 46319244 . C T . . ANN=T|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/3|c.571-29G>A|||||| 22 46319245 . G A . . ANN=A|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/3|c.571-30C>T|||||| 22 46326951 . C T . . ANN=T|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/3|c.570+27G>A|||||| 22 46326971 . A C . . ANN=C|splice_region_variant&intron_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/3|c.570+7T>G|||||| 22 46327010 . T C . . ANN=C|missense_variant|MODERATE|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/4|c.538A>G|p.Met180Val|912/3912|538/1050|180/349|| 22 46327071 . G C . . ANN=C|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/4|c.477C>G|p.Gly159Gly|851/3912|477/1050|159/349|| 22 46327098 . G C . . ANN=C|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/4|c.450C>G|p.Gly150Gly|824/3912|450/1050|150/349|| 22 46327122 . G C . . ANN=C|missense_variant|MODERATE|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/4|c.426C>G|p.Asn142Lys|800/3912|426/1050|142/349|| 22 46327148 . C T . . ANN=T|missense_variant|MODERATE|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/4|c.400G>A|p.Asp134Asn|774/3912|400/1050|134/349|| 22 46327188 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/4|c.360C>T|p.Thr120Thr|734/3912|360/1050|120/349|| 22 46327227 . C A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|3/4|c.321G>T|p.Thr107Thr|695/3912|321/1050|107/349|| 22 46327265 . G T . . ANN=T|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/3|c.299-16C>A|||||| 22 46327266 . G A . . ANN=A|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/3|c.299-17C>T|||||| 22 46327272 . A G . . ANN=G|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/3|c.299-23T>C|||||| 22 46327296 . CA C . . ANN=C|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/3|c.299-48delT|||||| 22 46345815 . G A . . ANN=A|stop_gained|HIGH|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/4|c.283C>T|p.Gln95*|657/3912|283/1050|95/349||;LOF=(WNT7B|WNT7B|1|1.00);NMD=(WNT7B|WNT7B|1|1.00) 22 46345825 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/4|c.273C>T|p.Thr91Thr|647/3912|273/1050|91/349|| 22 46345834 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/4|c.264C>T|p.Gly88Gly|638/3912|264/1050|88/349|| 22 46345837 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/4|c.261C>T|p.Leu87Leu|635/3912|261/1050|87/349|| 22 46345900 . C T . . ANN=T|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/4|c.198G>A|p.Ala66Ala|572/3912|198/1050|66/349|| 22 46345930 . G A . . ANN=A|synonymous_variant|LOW|WNT7B|WNT7B|transcript|NM_058238.2|Coding|2/4|c.168C>T|p.Pro56Pro|542/3912|168/1050|56/349|| 22 46346058 . C T . . ANN=T|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|1/3|c.72-32G>A|||||| 22 46372519 . G T . . ANN=T|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|1/3|c.71+45C>A|||||| 22 46372520 . C T . . ANN=T|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|1/3|c.71+44G>A|||||| 22 46372528 . G A . . ANN=A|intron_variant|MODIFIER|WNT7B|WNT7B|transcript|NM_058238.2|Coding|1/3|c.71+36C>T|||||| 22 46449810 . C T . . ANN=T|missense_variant|MODERATE|PRR34|PRR34|transcript|NM_018280.2|Coding|1/2|c.164G>A|p.Gly55Asp|215/1836|164/417|55/138||,T|intron_variant|MODIFIER|PRR34-AS1|PRR34-AS1|transcript|NR_027034.1|Noncoding|1/2|n.75+10C>T|||||| 22 46449889 . T G . . ANN=G|missense_variant|MODERATE|PRR34|PRR34|transcript|NM_018280.2|Coding|1/2|c.85A>C|p.Asn29His|136/1836|85/417|29/138||,G|intron_variant|MODIFIER|PRR34-AS1|PRR34-AS1|transcript|NR_027034.1|Noncoding|1/2|n.75+89T>G|||||| 22 46449891 . G A . . ANN=A|missense_variant|MODERATE|PRR34|PRR34|transcript|NM_018280.2|Coding|1/2|c.83C>T|p.Pro28Leu|134/1836|83/417|28/138||,A|intron_variant|MODIFIER|PRR34-AS1|PRR34-AS1|transcript|NR_027034.1|Noncoding|1/2|n.75+91G>A|||||| 22 46594271 . T C . . ANN=C|5_prime_UTR_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|3/8|c.-10T>C|||||10|,C|5_prime_UTR_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|4/9|c.-10T>C|||||10| 22 46594280 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|3/8|c.-1G>A|||||1|,A|5_prime_UTR_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|4/9|c.-1G>A|||||1| 22 46594319 . A G . . ANN=G|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|3/8|c.39A>G|p.Pro13Pro|221/9965|39/1407|13/468||,G|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|4/9|c.39A>G|p.Pro13Pro|305/10049|39/1407|13/468|| 22 46594382 . C T . . ANN=T|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|3/8|c.102C>T|p.Ile34Ile|284/9965|102/1407|34/468||,T|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|4/9|c.102C>T|p.Ile34Ile|368/10049|102/1407|34/468|| 22 46594436 . G A . . ANN=A|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|3/8|c.156G>A|p.Thr52Thr|338/9965|156/1407|52/468||,A|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|4/9|c.156G>A|p.Thr52Thr|422/10049|156/1407|52/468|| 22 46611026 . A G . . ANN=G|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|3/7|c.209-44A>G||||||,G|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|4/8|c.209-44A>G|||||| 22 46611051 . C T . . ANN=T|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|3/7|c.209-19C>T||||||,T|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|4/8|c.209-19C>T|||||| 22 46611106 . C T . . ANN=T|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|4/8|c.245C>T|p.Thr82Ile|427/9965|245/1407|82/468||,T|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|5/9|c.245C>T|p.Thr82Ile|511/10049|245/1407|82/468|| 22 46611153 . T C . . ANN=C|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|4/8|c.292T>C|p.Leu98Leu|474/9965|292/1407|98/468||,C|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|5/9|c.292T>C|p.Leu98Leu|558/10049|292/1407|98/468|| 22 46611263 . G A . . ANN=A|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|4/7|c.369+33G>A||||||,A|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|5/8|c.369+33G>A|||||| 22 46611265 . C T . . ANN=T|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|4/7|c.369+35C>T||||||,T|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|5/8|c.369+35C>T|||||| 22 46614137 . TCC T . . ANN=T|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|4/7|c.370-22_370-21delCC||||||,T|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|5/8|c.370-22_370-21delCC|||||| 22 46614147 . A G . . ANN=G|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|4/7|c.370-13A>G||||||,G|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|5/8|c.370-13A>G|||||| 22 46614208 . G A . . ANN=A|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|5/8|c.418G>A|p.Asp140Asn|600/9965|418/1407|140/468||,A|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|6/9|c.418G>A|p.Asp140Asn|684/10049|418/1407|140/468|| 22 46614274 . C G . . ANN=G|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|5/8|c.484C>G|p.Leu162Val|666/9965|484/1407|162/468||,G|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|6/9|c.484C>G|p.Leu162Val|750/10049|484/1407|162/468|| 22 46614333 . G A . . ANN=A|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|5/7|c.508+35G>A||||||,A|intron_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|6/8|c.508+35G>A|||||| 22 46615732 . A G . . ANN=G|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|6/8|c.532A>G|p.Arg178Gly|714/9965|532/1407|178/468||,G|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|7/9|c.532A>G|p.Arg178Gly|798/10049|532/1407|178/468|| 22 46615750 . C T . . ANN=T|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|6/8|c.550C>T|p.Leu184Leu|732/9965|550/1407|184/468||,T|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|7/9|c.550C>T|p.Leu184Leu|816/10049|550/1407|184/468|| 22 46615880 . T C . . ANN=C|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|6/8|c.680T>C|p.Val227Ala|862/9965|680/1407|227/468||,C|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|7/9|c.680T>C|p.Val227Ala|946/10049|680/1407|227/468|| 22 46615905 . C T . . ANN=T|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|6/8|c.705C>T|p.Asn235Asn|887/9965|705/1407|235/468||,T|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|7/9|c.705C>T|p.Asn235Asn|971/10049|705/1407|235/468|| 22 46627735 . C T . . ANN=T|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|7/8|c.758C>T|p.Thr253Met|940/9965|758/1407|253/468||,T|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|8/9|c.758C>T|p.Thr253Met|1024/10049|758/1407|253/468|| 22 46627780 . C T . . ANN=T|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|7/8|c.803C>T|p.Ala268Val|985/9965|803/1407|268/468||,T|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|8/9|c.803C>T|p.Ala268Val|1069/10049|803/1407|268/468|| 22 46627781 . G A . . ANN=A|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|7/8|c.804G>A|p.Ala268Ala|986/9965|804/1407|268/468||,A|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|8/9|c.804G>A|p.Ala268Ala|1070/10049|804/1407|268/468|| 22 46627847 . C T . . ANN=T|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|7/8|c.870C>T|p.Phe290Phe|1052/9965|870/1407|290/468||,T|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|8/9|c.870C>T|p.Phe290Phe|1136/10049|870/1407|290/468|| 22 46627970 . G A . . ANN=A|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|7/8|c.993G>A|p.Leu331Leu|1175/9965|993/1407|331/468||,A|synonymous_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|8/9|c.993G>A|p.Leu331Leu|1259/10049|993/1407|331/468|| 22 46631027 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PPARA|PPARA|transcript|NM_001001928.2|Coding|7/7|c.1160-3T>C||||||,C|splice_region_variant&intron_variant|LOW|PPARA|PPARA|transcript|NM_005036.4|Coding|8/8|c.1160-3T>C|||||| 22 46631192 . C T . . ANN=T|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|8/8|c.1322C>T|p.Ala441Val|1504/9965|1322/1407|441/468||,T|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|9/9|c.1322C>T|p.Ala441Val|1588/10049|1322/1407|441/468|| 22 46631206 . A C . . ANN=C|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_001001928.2|Coding|8/8|c.1336A>C|p.Ile446Leu|1518/9965|1336/1407|446/468||,C|missense_variant|MODERATE|PPARA|PPARA|transcript|NM_005036.4|Coding|9/9|c.1336A>C|p.Ile446Leu|1602/10049|1336/1407|446/468|| 22 46631305 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PPARA|PPARA|transcript|NM_001001928.2|Coding|8/8|c.*28C>T|||||28|,T|3_prime_UTR_variant|MODIFIER|PPARA|PPARA|transcript|NM_005036.4|Coding|9/9|c.*28C>T|||||28| 22 46640967 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|CDPF1|CDPF1|transcript|NM_207327.4|Coding|4/4|c.*22C>T|||||22| 22 46640992 . C T . . ANN=T|synonymous_variant|LOW|CDPF1|CDPF1|transcript|NM_207327.4|Coding|4/4|c.369G>A|p.Thr123Thr|410/1492|369/372|123/123|| 22 46642967 . C T . . ANN=T|intron_variant|MODIFIER|CDPF1|CDPF1|transcript|NM_207327.4|Coding|3/3|c.225+40G>A|||||| 22 46643023 . A C . . ANN=C|missense_variant|MODERATE|CDPF1|CDPF1|transcript|NM_207327.4|Coding|3/4|c.209T>G|p.Leu70Arg|250/1492|209/372|70/123|| 22 46643124 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/3|c.114-6C>T|||||| 22 46643131 . GA G . . ANN=G|intron_variant|MODIFIER|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/3|c.114-14delT|||||| 22 46643132 . A G . . ANN=G|intron_variant|MODIFIER|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/3|c.114-14T>C|||||| 22 46643133 . A T . . ANN=T|intron_variant|MODIFIER|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/3|c.114-15T>A|||||| 22 46643134 . T G . . ANN=G|intron_variant|MODIFIER|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/3|c.114-16A>C|||||| 22 46643135 . G C . . ANN=C|intron_variant|MODIFIER|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/3|c.114-17C>G|||||| 22 46644159 . C G . . ANN=G|missense_variant|MODERATE|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/4|c.23G>C|p.Arg8Pro|64/1492|23/372|8/123|| 22 46644168 . A G . . ANN=G|missense_variant|MODERATE|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/4|c.14T>C|p.Val5Ala|55/1492|14/372|5/123|| 22 46644177 . G A . . ANN=A|missense_variant|MODERATE|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/4|c.5C>T|p.Ala2Val|46/1492|5/372|2/123|| 22 46644178 . C T . . ANN=T|missense_variant|MODERATE|CDPF1|CDPF1|transcript|NM_207327.4|Coding|2/4|c.4G>A|p.Ala2Thr|45/1492|4/372|2/123|| 22 46644188 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CDPF1|CDPF1|transcript|NM_207327.4|Coding|1/3|c.1-7C>T|||||| 22 46652420 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.*38C>G|||||38| 22 46652426 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.*32G>A|||||32| 22 46652427 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.*31C>T|||||31| 22 46652516 . T A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6704A>T|p.Tyr2235Phe|6704/7660|6704/6762|2235/2253|| 22 46652736 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6484G>A|p.Val2162Ile|6484/7660|6484/6762|2162/2253|| 22 46652737 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6483C>T|p.Cys2161Cys|6483/7660|6483/6762|2161/2253|| 22 46652892 . C A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6328G>T|p.Val2110Leu|6328/7660|6328/6762|2110/2253|| 22 46652929 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6291C>T|p.Ser2097Ser|6291/7660|6291/6762|2097/2253|| 22 46652959 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6261T>C|p.Pro2087Pro|6261/7660|6261/6762|2087/2253|| 22 46652994 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6226C>T|p.Arg2076Cys|6226/7660|6226/6762|2076/2253|| 22 46653095 . G A,C . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6125C>T|p.Ala2042Val|6125/7660|6125/6762|2042/2253||,C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6125C>G|p.Ala2042Gly|6125/7660|6125/6762|2042/2253|| 22 46653187 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.6033G>A|p.Val2011Val|6033/7660|6033/6762|2011/2253|| 22 46653398 . CCTAA C . . ANN=C|frameshift_variant|HIGH|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5818_5821delTTAG|p.Leu1940fs|5821/7660|5818/6762|1940/2253||;LOF=(PKDREJ|PKDREJ|1|1.00) 22 46653532 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5688G>A|p.Leu1896Leu|5688/7660|5688/6762|1896/2253|| 22 46653548 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5672G>A|p.Arg1891Gln|5672/7660|5672/6762|1891/2253|| 22 46653661 . G T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5559C>A|p.Thr1853Thr|5559/7660|5559/6762|1853/2253|| 22 46653685 . A C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5535T>G|p.Asp1845Glu|5535/7660|5535/6762|1845/2253|| 22 46653781 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5439G>A|p.Val1813Val|5439/7660|5439/6762|1813/2253|| 22 46653806 . A AT . . ANN=AT|frameshift_variant|HIGH|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5413dupA|p.Met1805fs|5413/7660|5413/6762|1805/2253||;LOF=(PKDREJ|PKDREJ|1|1.00) 22 46653865 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5355G>A|p.Ser1785Ser|5355/7660|5355/6762|1785/2253|| 22 46654035 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5185G>A|p.Val1729Ile|5185/7660|5185/6762|1729/2253|| 22 46654081 . G T . . ANN=T|stop_gained|HIGH|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5139C>A|p.Tyr1713*|5139/7660|5139/6762|1713/2253|| 22 46654159 . T C . . ANN=C|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5061A>G|p.Gln1687Gln|5061/7660|5061/6762|1687/2253|| 22 46654188 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.5032G>A|p.Val1678Ile|5032/7660|5032/6762|1678/2253|| 22 46654323 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4897C>T|p.Leu1633Leu|4897/7660|4897/6762|1633/2253|| 22 46654454 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4766G>A|p.Ser1589Asn|4766/7660|4766/6762|1589/2253|| 22 46654515 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4705C>T|p.Arg1569Trp|4705/7660|4705/6762|1569/2253|| 22 46654554 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4666C>G|p.Pro1556Ala|4666/7660|4666/6762|1556/2253|| 22 46654563 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4657G>A|p.Glu1553Lys|4657/7660|4657/6762|1553/2253|| 22 46654572 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4648G>A|p.Val1550Ile|4648/7660|4648/6762|1550/2253|| 22 46654598 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4622A>G|p.Asn1541Ser|4622/7660|4622/6762|1541/2253|| 22 46654628 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4592C>T|p.Pro1531Leu|4592/7660|4592/6762|1531/2253|| 22 46654636 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4584C>G|p.Ile1528Met|4584/7660|4584/6762|1528/2253|| 22 46654664 . G T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4556C>A|p.Pro1519His|4556/7660|4556/6762|1519/2253|| 22 46654672 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4548C>T|p.Thr1516Thr|4548/7660|4548/6762|1516/2253|| 22 46654759 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4461C>T|p.Tyr1487Tyr|4461/7660|4461/6762|1487/2253|| 22 46654812 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4408A>G|p.Met1470Val|4408/7660|4408/6762|1470/2253|| 22 46654850 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4370C>T|p.Ala1457Val|4370/7660|4370/6762|1457/2253|| 22 46655020 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4200T>C|p.Ser1400Ser|4200/7660|4200/6762|1400/2253|| 22 46655108 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.4112T>C|p.Met1371Thr|4112/7660|4112/6762|1371/2253|| 22 46655303 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3917C>T|p.Ser1306Leu|3917/7660|3917/6762|1306/2253|| 22 46655313 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3907G>A|p.Glu1303Lys|3907/7660|3907/6762|1303/2253|| 22 46655344 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3876C>T|p.Asp1292Asp|3876/7660|3876/6762|1292/2253|| 22 46655347 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3873G>A|p.Gly1291Gly|3873/7660|3873/6762|1291/2253|| 22 46655365 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3855G>A|p.Thr1285Thr|3855/7660|3855/6762|1285/2253|| 22 46655374 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3846C>T|p.Phe1282Phe|3846/7660|3846/6762|1282/2253|| 22 46655391 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3829G>A|p.Gly1277Ser|3829/7660|3829/6762|1277/2253|| 22 46655434 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3786C>T|p.Asp1262Asp|3786/7660|3786/6762|1262/2253|| 22 46655653 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3567T>C|p.Thr1189Thr|3567/7660|3567/6762|1189/2253|| 22 46655668 . G C . . ANN=C|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3552C>G|p.Pro1184Pro|3552/7660|3552/6762|1184/2253|| 22 46655770 . C G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3450G>C|p.Thr1150Thr|3450/7660|3450/6762|1150/2253|| 22 46655779 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3441C>G|p.Ile1147Met|3441/7660|3441/6762|1147/2253|| 22 46655925 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3295A>G|p.Ile1099Val|3295/7660|3295/6762|1099/2253|| 22 46655948 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3272A>G|p.Asn1091Ser|3272/7660|3272/6762|1091/2253|| 22 46655966 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3254G>A|p.Arg1085His|3254/7660|3254/6762|1085/2253|| 22 46655969 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3251C>G|p.Pro1084Arg|3251/7660|3251/6762|1084/2253|| 22 46656151 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.3069G>A|p.Ala1023Ala|3069/7660|3069/6762|1023/2253|| 22 46656246 . T G . . ANN=G|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2974A>C|p.Thr992Pro|2974/7660|2974/6762|992/2253|| 22 46656275 . G C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2945C>G|p.Thr982Arg|2945/7660|2945/6762|982/2253|| 22 46656278 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2942C>T|p.Thr981Met|2942/7660|2942/6762|981/2253|| 22 46656304 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2916C>T|p.Ser972Ser|2916/7660|2916/6762|972/2253|| 22 46656323 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2897T>C|p.Leu966Pro|2897/7660|2897/6762|966/2253|| 22 46656358 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2862T>C|p.Leu954Leu|2862/7660|2862/6762|954/2253|| 22 46656371 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2849C>T|p.Ala950Val|2849/7660|2849/6762|950/2253|| 22 46656445 . C A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2775G>T|p.Ser925Ser|2775/7660|2775/6762|925/2253|| 22 46656479 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2741T>C|p.Leu914Pro|2741/7660|2741/6762|914/2253|| 22 46656511 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2709T>C|p.Ile903Ile|2709/7660|2709/6762|903/2253|| 22 46656562 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2658T>C|p.Tyr886Tyr|2658/7660|2658/6762|886/2253|| 22 46656571 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2649T>C|p.Asn883Asn|2649/7660|2649/6762|883/2253|| 22 46656607 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2613C>T|p.Ile871Ile|2613/7660|2613/6762|871/2253|| 22 46656805 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2415C>T|p.Ile805Ile|2415/7660|2415/6762|805/2253|| 22 46656812 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2408T>C|p.Ile803Thr|2408/7660|2408/6762|803/2253|| 22 46656831 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2389C>T|p.Arg797Cys|2389/7660|2389/6762|797/2253|| 22 46656976 . A C . . ANN=C|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2244T>G|p.Thr748Thr|2244/7660|2244/6762|748/2253|| 22 46657020 . G A . . ANN=A|stop_gained|HIGH|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2200C>T|p.Arg734*|2200/7660|2200/6762|734/2253|| 22 46657047 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2173C>T|p.Pro725Ser|2173/7660|2173/6762|725/2253|| 22 46657090 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2130G>A|p.Leu710Leu|2130/7660|2130/6762|710/2253|| 22 46657143 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2077T>C|p.Leu693Leu|2077/7660|2077/6762|693/2253|| 22 46657170 . GTAAC G . . ANN=G|frameshift_variant|HIGH|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.2046_2049delGTTA|p.Gln682fs|2049/7660|2046/6762|682/2253||;LOF=(PKDREJ|PKDREJ|1|1.00) 22 46657261 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1959T>C|p.Asp653Asp|1959/7660|1959/6762|653/2253|| 22 46657308 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1912A>G|p.Met638Val|1912/7660|1912/6762|638/2253|| 22 46657447 . G T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1773C>A|p.His591Gln|1773/7660|1773/6762|591/2253|| 22 46657485 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1735A>G|p.Lys579Glu|1735/7660|1735/6762|579/2253|| 22 46657591 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1629T>C|p.Cys543Cys|1629/7660|1629/6762|543/2253|| 22 46657637 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1583G>A|p.Arg528Gln|1583/7660|1583/6762|528/2253|| 22 46657713 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1507A>G|p.Met503Val|1507/7660|1507/6762|503/2253|| 22 46657768 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1452T>C|p.Asn484Asn|1452/7660|1452/6762|484/2253|| 22 46657798 . A G . . ANN=G|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1422T>C|p.Asp474Asp|1422/7660|1422/6762|474/2253|| 22 46657881 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1339A>G|p.Arg447Gly|1339/7660|1339/6762|447/2253|| 22 46658059 . A C . . ANN=C|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1161T>G|p.Gly387Gly|1161/7660|1161/6762|387/2253|| 22 46658122 . C T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1098G>A|p.Ala366Ala|1098/7660|1098/6762|366/2253|| 22 46658204 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.1016T>C|p.Val339Ala|1016/7660|1016/6762|339/2253|| 22 46658399 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.821C>T|p.Thr274Met|821/7660|821/6762|274/2253|| 22 46658461 . G T . . ANN=T|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.759C>A|p.Arg253Arg|759/7660|759/6762|253/2253|| 22 46658491 . G C . . ANN=C|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.729C>G|p.Ala243Ala|729/7660|729/6762|243/2253|| 22 46658515 . C T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.705G>A|p.Met235Ile|705/7660|705/6762|235/2253|| 22 46658619 . G T . . ANN=T|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.601C>A|p.His201Asn|601/7660|601/6762|201/2253|| 22 46658719 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.501C>T|p.Ala167Ala|501/7660|501/6762|167/2253|| 22 46658725 . G C . . ANN=C|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.495C>G|p.Arg165Arg|495/7660|495/6762|165/2253|| 22 46658747 . G A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.473C>T|p.Pro158Leu|473/7660|473/6762|158/2253|| 22 46658926 . G A . . ANN=A|synonymous_variant|LOW|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.294C>T|p.Ser98Ser|294/7660|294/6762|98/2253|| 22 46658978 . T C . . ANN=C|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.242A>G|p.His81Arg|242/7660|242/6762|81/2253|| 22 46659143 . A G . . ANN=G|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.77T>C|p.Val26Ala|77/7660|77/6762|26/2253|| 22 46659186 . C A . . ANN=A|missense_variant|MODERATE|PKDREJ|PKDREJ|transcript|NM_006071.1|Coding|1/1|c.34G>T|p.Val12Leu|34/7660|34/6762|12/2253|| 22 46663887 . A C . . ANN=C|5_prime_UTR_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|1/14|c.-50A>C|||||50| 22 46663917 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|1/14|c.-20G>A|||||20| 22 46664409 . A G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|TTC38|TTC38|transcript|NM_017931.2|Coding|1/13|c.34-2A>G||||||;LOF=(TTC38|TTC38|1|1.00) 22 46664412 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|2/14|c.35C>T|p.Ala12Val|111/2610|35/1410|12/469|| 22 46664431 . C G . . ANN=G|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|2/14|c.54C>G|p.Leu18Leu|130/2610|54/1410|18/469|| 22 46668352 . A G . . ANN=G|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|3/13|c.193+39A>G|||||| 22 46669887 . A G . . ANN=G|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|4/14|c.286A>G|p.Met96Val|362/2610|286/1410|96/469|| 22 46669913 . G T . . ANN=T|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|4/14|c.312G>T|p.Pro104Pro|388/2610|312/1410|104/469|| 22 46669946 . A G . . ANN=G|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|4/14|c.345A>G|p.Ala115Ala|421/2610|345/1410|115/469|| 22 46671154 . G A . . ANN=A|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|5/14|c.375G>A|p.Pro125Pro|451/2610|375/1410|125/469|| 22 46671196 . G A . . ANN=A|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|5/14|c.417G>A|p.Pro139Pro|493/2610|417/1410|139/469|| 22 46671241 . C T . . ANN=T|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|5/14|c.462C>T|p.Tyr154Tyr|538/2610|462/1410|154/469|| 22 46674516 . G A . . ANN=A|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|6/14|c.573G>A|p.Met191Ile|649/2610|573/1410|191/469|| 22 46674554 . A G . . ANN=G|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|6/14|c.611A>G|p.Lys204Arg|687/2610|611/1410|204/469|| 22 46674564 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|6/13|c.615+6T>G|||||| 22 46674603 . C T . . ANN=T|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|6/13|c.615+45C>T|||||| 22 46677483 . G A . . ANN=A|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|6/13|c.616-13G>A|||||| 22 46677553 . G A . . ANN=A|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|7/14|c.673G>A|p.Glu225Lys|749/2610|673/1410|225/469|| 22 46677573 . G A . . ANN=A|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|7/14|c.693G>A|p.Lys231Lys|769/2610|693/1410|231/469|| 22 46677605 . C A . . ANN=A|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|7/14|c.725C>A|p.Thr242Asn|801/2610|725/1410|242/469|| 22 46677607 . T C . . ANN=C|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|7/14|c.727T>C|p.Phe243Leu|803/2610|727/1410|243/469|| 22 46679838 . T C . . ANN=C|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|7/13|c.736-32T>C|||||| 22 46679848 . C CT . . ANN=CT|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|7/13|c.736-22_736-21insT|||||| 22 46679849 . TC T . . ANN=T|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|7/13|c.736-20delC|||||| 22 46679972 . G A . . ANN=A|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|8/13|c.795+43G>A|||||| 22 46681141 . G A . . ANN=A|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|9/14|c.799G>A|p.Glu267Lys|875/2610|799/1410|267/469|| 22 46681153 . G A . . ANN=A|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|9/14|c.811G>A|p.Ala271Thr|887/2610|811/1410|271/469|| 22 46681173 . C G . . ANN=G|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|9/14|c.831C>G|p.Thr277Thr|907/2610|831/1410|277/469|| 22 46682946 . C T . . ANN=T|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|9/13|c.835-24C>T|||||| 22 46682955 . C T . . ANN=T|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|9/13|c.835-15C>T|||||| 22 46682976 . C T . . ANN=T|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|10/14|c.841C>T|p.Pro281Ser|917/2610|841/1410|281/469|| 22 46682993 . C T . . ANN=T|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|10/14|c.858C>T|p.Asn286Asn|934/2610|858/1410|286/469|| 22 46682995 . A G . . ANN=G|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|10/14|c.860A>G|p.Asp287Gly|936/2610|860/1410|287/469|| 22 46683008 . C T . . ANN=T|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|10/14|c.873C>T|p.Asp291Asp|949/2610|873/1410|291/469|| 22 46684364 . C T . . ANN=T|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|11/14|c.961C>T|p.Arg321Trp|1037/2610|961/1410|321/469|| 22 46684451 . CAG C . . ANN=C|frameshift_variant|HIGH|TTC38|TTC38|transcript|NM_017931.2|Coding|11/14|c.1049_1050delAG|p.Gln350fs|1125/2610|1049/1410|350/469||;LOF=(TTC38|TTC38|1|1.00) 22 46684506 . G A . . ANN=A|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|11/13|c.1082+21G>A|||||| 22 46684528 . C T . . ANN=T|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|11/13|c.1082+43C>T|||||| 22 46685249 . G A . . ANN=A|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|11/13|c.1083-50G>A|||||| 22 46685274 . T C . . ANN=C|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|11/13|c.1083-25T>C|||||| 22 46685284 . G A . . ANN=A|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|11/13|c.1083-15G>A|||||| 22 46685316 . G A . . ANN=A|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|12/14|c.1100G>A|p.Cys367Tyr|1176/2610|1100/1410|367/469|| 22 46685375 . G A . . ANN=A|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|12/14|c.1159G>A|p.Glu387Lys|1235/2610|1159/1410|387/469|| 22 46685380 . C T . . ANN=T|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|12/14|c.1164C>T|p.Asp388Asp|1240/2610|1164/1410|388/469|| 22 46685401 . G A . . ANN=A|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|12/14|c.1185G>A|p.Leu395Leu|1261/2610|1185/1410|395/469|| 22 46685426 . C T . . ANN=T|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|12/14|c.1210C>T|p.Arg404Trp|1286/2610|1210/1410|404/469|| 22 46685432 . G A . . ANN=A|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|12/14|c.1216G>A|p.Val406Ile|1292/2610|1216/1410|406/469|| 22 46685711 . T G . . ANN=G|intron_variant|MODIFIER|TTC38|TTC38|transcript|NM_017931.2|Coding|12/13|c.1243-12T>G|||||| 22 46685754 . C T . . ANN=T|missense_variant|MODERATE|TTC38|TTC38|transcript|NM_017931.2|Coding|13/14|c.1274C>T|p.Ala425Val|1350/2610|1274/1410|425/469|| 22 46688736 . C T . . ANN=T|synonymous_variant|LOW|TTC38|TTC38|transcript|NM_017931.2|Coding|14/14|c.1365C>T|p.Thr455Thr|1441/2610|1365/1410|455/469|| 22 46693312 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|2/12|c.15C>T|p.Gly5Gly|227/3112|15/2220|5/739|| 22 46693319 . G T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|2/12|c.22G>T|p.Asp8Tyr|234/3112|22/2220|8/739|| 22 46693375 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|2/12|c.78A>G|p.Glu26Glu|290/3112|78/2220|26/739|| 22 46704013 . G A . . ANN=A|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|2/11|c.80-34G>A|||||| 22 46704039 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|2/11|c.80-8C>T|||||| 22 46704243 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.165C>T|p.Phe55Phe|377/3112|165/2220|55/739|| 22 46704244 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.166G>A|p.Gly56Arg|378/3112|166/2220|56/739|| 22 46704372 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.294C>T|p.Phe98Phe|506/3112|294/2220|98/739|| 22 46704390 . A G . . ANN=G|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.312A>G|p.Glu104Glu|524/3112|312/2220|104/739|| 22 46704500 . C A . . ANN=A|stop_gained|HIGH|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.422C>A|p.Ser141*|634/3112|422/2220|141/739||;LOF=(GTSE1|GTSE1|1|1.00);NMD=(GTSE1|GTSE1|1|1.00) 22 46704555 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.477G>A|p.Thr159Thr|689/3112|477/2220|159/739|| 22 46704580 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.502C>T|p.Leu168Leu|714/3112|502/2220|168/739|| 22 46704610 . G T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.532G>T|p.Val178Leu|744/3112|532/2220|178/739|| 22 46704622 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.544C>T|p.Arg182Trp|756/3112|544/2220|182/739|| 22 46704627 . C G . . ANN=G|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.549C>G|p.Leu183Leu|761/3112|549/2220|183/739|| 22 46704676 . A G . . ANN=G|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.598A>G|p.Thr200Ala|810/3112|598/2220|200/739|| 22 46704684 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.606G>A|p.Ala202Ala|818/3112|606/2220|202/739|| 22 46704687 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.609G>A|p.Pro203Pro|821/3112|609/2220|203/739|| 22 46704690 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.612G>A|p.Gly204Gly|824/3112|612/2220|204/739|| 22 46704734 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.656C>T|p.Ala219Val|868/3112|656/2220|219/739|| 22 46704771 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/12|c.693C>T|p.Pro231Pro|905/3112|693/2220|231/739|| 22 46704874 . C G . . ANN=G|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|4/11|c.762+34C>G|||||| 22 46708152 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|5/12|c.877G>A|p.Ala293Thr|1089/3112|877/2220|293/739|| 22 46708155 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|5/12|c.880G>A|p.Gly294Arg|1092/3112|880/2220|294/739|| 22 46708180 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|5/12|c.905G>A|p.Arg302Gln|1117/3112|905/2220|302/739|| 22 46709827 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|6/12|c.968C>T|p.Thr323Ile|1180/3112|968/2220|323/739|| 22 46709881 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|6/12|c.1022G>A|p.Ser341Asn|1234/3112|1022/2220|341/739|| 22 46711880 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|6/11|c.1052-49T>C|||||| 22 46711920 . A AC . . ANN=AC|splice_region_variant&intron_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|6/11|c.1052-9_1052-8insC|||||| 22 46712021 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|7/12|c.1144C>T|p.Arg382Trp|1356/3112|1144/2220|382/739|| 22 46712077 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|7/12|c.1200C>T|p.Val400Val|1412/3112|1200/2220|400/739|| 22 46712149 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|7/12|c.1272G>A|p.Pro424Pro|1484/3112|1272/2220|424/739|| 22 46712216 . A G . . ANN=G|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|7/12|c.1339A>G|p.Arg447Gly|1551/3112|1339/2220|447/739|| 22 46712229 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|7/12|c.1352G>A|p.Arg451Gln|1564/3112|1352/2220|451/739|| 22 46712332 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|7/11|c.1432+23T>C|||||| 22 46719054 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|7/11|c.1433-33T>C|||||| 22 46719100 . C G . . ANN=G|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|8/12|c.1446C>G|p.Asp482Glu|1658/3112|1446/2220|482/739|| 22 46719120 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|8/12|c.1466C>T|p.Ser489Leu|1678/3112|1466/2220|489/739|| 22 46719141 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|8/12|c.1487C>T|p.Ser496Leu|1699/3112|1487/2220|496/739|| 22 46719171 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|8/11|c.1505+12T>C|||||| 22 46719177 . G A . . ANN=A|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|8/11|c.1505+18G>A|||||| 22 46719185 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|8/11|c.1505+26T>C|||||| 22 46722362 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1535G>A|p.Arg512His|1747/3112|1535/2220|512/739|| 22 46722397 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1570G>A|p.Ala524Thr|1782/3112|1570/2220|524/739|| 22 46722400 . T C . . ANN=C|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1573T>C|p.Trp525Arg|1785/3112|1573/2220|525/739|| 22 46722401 . G A . . ANN=A|stop_gained|HIGH|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1574G>A|p.Trp525*|1786/3112|1574/2220|525/739||;LOF=(GTSE1|GTSE1|1|1.00);NMD=(GTSE1|GTSE1|1|1.00) 22 46722419 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1592C>T|p.Pro531Leu|1804/3112|1592/2220|531/739|| 22 46722426 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1599C>T|p.Pro533Pro|1811/3112|1599/2220|533/739|| 22 46722436 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1609C>T|p.Arg537Cys|1821/3112|1609/2220|537/739|| 22 46722517 . C T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1690C>T|p.Arg564Cys|1902/3112|1690/2220|564/739|| 22 46722531 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/12|c.1704C>T|p.Pro568Pro|1916/3112|1704/2220|568/739|| 22 46722560 . C T . . ANN=T|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/11|c.1724+9C>T|||||| 22 46724553 . C G . . ANN=G|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/11|c.1725-32C>G|||||| 22 46724558 . T C . . ANN=C|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/11|c.1725-27T>C|||||| 22 46724579 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|9/11|c.1725-6C>G|||||| 22 46724650 . G C . . ANN=C|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/12|c.1790G>C|p.Arg597Thr|2002/3112|1790/2220|597/739|| 22 46724703 . A T . . ANN=T|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/12|c.1843A>T|p.Ser615Cys|2055/3112|1843/2220|615/739|| 22 46724729 . T A . . ANN=A|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/12|c.1869T>A|p.Thr623Thr|2081/3112|1869/2220|623/739|| 22 46724731 . C G . . ANN=G|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/12|c.1871C>G|p.Ala624Gly|2083/3112|1871/2220|624/739|| 22 46724746 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/12|c.1886G>A|p.Arg629Gln|2098/3112|1886/2220|629/739|| 22 46724762 . G C . . ANN=C|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/12|c.1902G>C|p.Pro634Pro|2114/3112|1902/2220|634/739|| 22 46724769 . G C . . ANN=C|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/12|c.1909G>C|p.Asp637His|2121/3112|1909/2220|637/739|| 22 46724798 . G A . . ANN=A|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/11|c.1926+12G>A|||||| 22 46724801 . C T . . ANN=T|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|10/11|c.1926+15C>T|||||| 22 46725288 . G A . . ANN=A|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|11/12|c.1960G>A|p.Ala654Thr|2172/3112|1960/2220|654/739|| 22 46725316 . C G . . ANN=G|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|11/12|c.1988C>G|p.Pro663Arg|2200/3112|1988/2220|663/739|| 22 46725350 . T C . . ANN=C|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|11/12|c.2022T>C|p.Asp674Asp|2234/3112|2022/2220|674/739|| 22 46725365 . C T . . ANN=T|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|11/12|c.2037C>T|p.His679His|2249/3112|2037/2220|679/739|| 22 46725913 . C T . . ANN=T|intron_variant|MODIFIER|GTSE1|GTSE1|transcript|NM_016426.6|Coding|11/11|c.2137-31C>T|||||| 22 46725974 . C G . . ANN=G|missense_variant|MODERATE|GTSE1|GTSE1|transcript|NM_016426.6|Coding|12/12|c.2167C>G|p.Leu723Val|2379/3112|2167/2220|723/739|| 22 46725985 . G A . . ANN=A|synonymous_variant|LOW|GTSE1|GTSE1|transcript|NM_016426.6|Coding|12/12|c.2178G>A|p.Glu726Glu|2390/3112|2178/2220|726/739|| 22 46731618 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|1/11|c.-44G>A|||||44|,A|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/10|c.-279G>A|||||2211|,A|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/10|c.-298G>A|||||10707|,A|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/9|c.-298G>A|||||10707|,A|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/10|c.-44G>A|||||44|,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/11|n.321G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/10|n.321G>A|||||| 22 46731670 . C G . . ANN=G|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|1/11|c.9C>G|p.Ala3Ala|373/1964|9/1266|3/421||,G|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/10|c.9C>G|p.Ala3Ala|373/1881|9/1131|3/376||,G|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/10|c.-227C>G|||||2159|,G|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/10|c.-246C>G|||||10655|,G|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/9|c.-246C>G|||||10655|,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/11|n.373C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/10|n.373C>G|||||| 22 46731671 . T G . . ANN=G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|1/11|c.10T>G|p.Leu4Val|374/1964|10/1266|4/421||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/10|c.10T>G|p.Leu4Val|374/1881|10/1131|4/376||,G|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/10|c.-226T>G|||||2158|,G|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/10|c.-245T>G|||||10654|,G|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/9|c.-245T>G|||||10654|,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/11|n.374T>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/10|n.374T>G|||||| 22 46731689 . G T . . ANN=T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|1/11|c.28G>T|p.Ala10Ser|392/1964|28/1266|10/421||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/10|c.28G>T|p.Ala10Ser|392/1881|28/1131|10/376||,T|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/10|c.-208G>T|||||2140|,T|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/10|c.-227G>T|||||10636|,T|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/9|c.-227G>T|||||10636|,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/11|n.392G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/10|n.392G>T|||||| 22 46731736 . G T . . ANN=T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|1/11|c.75G>T|p.Arg25Ser|439/1964|75/1266|25/421||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/10|c.75G>T|p.Arg25Ser|439/1881|75/1131|25/376||,T|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/10|c.-161G>T|||||2093|,T|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/10|c.-180G>T|||||10589|,T|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/9|c.-180G>T|||||10589|,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/11|n.439G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/10|n.439G>T|||||| 22 46731769 . C G . . ANN=G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|1/10|c.82+26C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/9|c.-154+26C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/9|c.-173+26C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/8|c.-173+26C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/9|c.82+26C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/10|n.446+26C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/9|n.446+26C>G|||||| 22 46731770 . CG C . . ANN=C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|1/10|c.82+28delG||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/9|c.-154+28delG||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/9|c.-173+28delG||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/8|c.-173+28delG||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/9|c.82+28delG||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/10|n.446+28delG||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/9|n.446+28delG|||||| 22 46731771 . G C . . ANN=C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|1/10|c.82+28G>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/9|c.-154+28G>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/9|c.-173+28G>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/8|c.-173+28G>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/9|c.82+28G>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/10|n.446+28G>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/9|n.446+28G>C|||||| 22 46731791 . G A . . ANN=A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|1/10|c.82+48G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/9|c.-154+48G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/9|c.-173+48G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/8|c.-173+48G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/9|c.82+48G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/10|n.446+48G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/9|n.446+48G>A|||||| 22 46733657 . T C . . ANN=C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|1/10|c.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|1/9|c.-153-19T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|1/9|c.-172-19T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|1/8|c.-172-19T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|1/9|c.83-19T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|1/10|n.447-19T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|1/9|n.447-19T>C|||||| 22 46733831 . G A . . ANN=A|start_lost|HIGH|TRMU|TRMU|transcript|NM_001282782.1|Coding|2/10|c.3G>A|p.Met1?|602/1857|3/924|1/307||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|2/11|c.238G>A|p.Asp80Asn|602/1964|238/1266|80/421||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|2/10|c.238G>A|p.Asp80Asn|602/1881|238/1131|80/376||,A|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|2/10|c.-17G>A|||||8494|,A|5_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|2/9|c.-17G>A|||||8494|,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|2/11|n.602G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|2/10|n.602G>A||||||;LOF=(TRMU|TRMU|7|0.14) 22 46733853 . TCACAGCA T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|2/10|c.248+13_248+19delCACAGCA||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|2/9|c.13+13_13+19delCACAGCA||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|2/9|c.-7+13_-7+19delCACAGCA||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|2/8|c.-7+13_-7+19delCACAGCA||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|2/9|c.248+13_248+19delCACAGCA||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|2/10|n.612+13_612+19delCACAGCA||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|2/9|n.612+13_612+19delCACAGCA|||||| 22 46733888 . C G . . ANN=G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|2/10|c.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|2/9|c.13+47C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|2/9|c.-7+47C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|2/8|c.-7+47C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|2/9|c.248+47C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|2/10|n.612+47C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|2/9|n.612+47C>G|||||| 22 46739140 . T A . . ANN=A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|2/10|c.249-19T>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|2/9|c.14-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|2/9|c.-6-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|2/8|c.-6-3179T>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|2/9|c.249-19T>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|2/10|n.613-19T>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|2/9|n.613-3179T>A|||||| 22 46739261 . T C . . ANN=C|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|3/11|c.351T>C|p.Asn117Asn|715/1964|351/1266|117/421||,C|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|3/10|c.351T>C|p.Asn117Asn|715/1881|351/1131|117/376||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|2/9|c.14-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|2/9|c.-6-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|2/8|c.-6-3058T>C||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|2/9|n.613-3058T>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|3/11|n.715T>C|||||| 22 46742350 . A G . . ANN=G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|3/10|c.26A>G|p.Gln9Arg|644/1798|26/846|9/281||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|3/9|c.26A>G|p.Gln9Arg|644/1715|26/711|9/236||,G|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|4/11|c.387A>G|p.Ala129Ala|751/1964|387/1266|129/421||,G|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|3/10|c.45A>G|p.Ala15Ala|644/1857|45/924|15/307||,G|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|4/10|c.387A>G|p.Ala129Ala|751/1881|387/1131|129/376||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|4/11|n.751A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|3/10|n.644A>G|||||| 22 46742405 . G A . . ANN=A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|4/11|c.442G>A|p.Glu148Lys|806/1964|442/1266|148/421||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|3/10|c.100G>A|p.Glu34Lys|699/1857|100/924|34/307||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|4/10|c.442G>A|p.Glu148Lys|806/1881|442/1131|148/376||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|3/10|c.81G>A|p.Pro27Pro|699/1798|81/846|27/281||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|3/9|c.81G>A|p.Pro27Pro|699/1715|81/711|27/236||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|4/11|n.806G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|3/10|n.699G>A|||||| 22 46742455 . C T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|4/10|c.478+14C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|3/9|c.136+14C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|3/9|c.117+14C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|3/8|c.117+14C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|4/9|c.478+14C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|4/10|n.842+14C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|3/9|n.735+14C>T|||||| 22 46742486 . T G . . ANN=G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|4/10|c.478+45T>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|3/9|c.136+45T>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|3/9|c.117+45T>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|3/8|c.117+45T>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|4/9|c.478+45T>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|4/10|n.842+45T>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|3/9|n.735+45T>G|||||| 22 46746188 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|5/11|c.479C>T|p.Ala160Val|843/1964|479/1266|160/421||,T|missense_variant&splice_region_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|4/10|c.137C>T|p.Ala46Val|736/1857|137/924|46/307||,T|missense_variant&splice_region_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|5/10|c.479C>T|p.Ala160Val|843/1881|479/1131|160/376||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|3/9|c.118-59C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|3/8|c.118-59C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|4/10|n.843-55C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|3/9|n.736-55C>T|||||| 22 46746261 . C T . . ANN=T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|5/11|c.552C>T|p.Ala184Ala|916/1964|552/1266|184/421||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|4/10|c.210C>T|p.Ala70Ala|809/1857|210/924|70/307||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|4/10|c.132C>T|p.Ala44Ala|750/1798|132/846|44/281||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|4/9|c.132C>T|p.Ala44Ala|750/1715|132/711|44/236||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|5/10|c.552C>T|p.Ala184Ala|916/1881|552/1131|184/376||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|5/11|n.861C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|4/10|n.754C>T|||||| 22 46746276 . C G . . ANN=G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|5/11|c.567C>G|p.Ile189Met|931/1964|567/1266|189/421||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|4/10|c.225C>G|p.Ile75Met|824/1857|225/924|75/307||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|4/10|c.147C>G|p.Ile49Met|765/1798|147/846|49/281||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|4/9|c.147C>G|p.Ile49Met|765/1715|147/711|49/236||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|5/10|c.567C>G|p.Ile189Met|931/1881|567/1131|189/376||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|5/11|n.876C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|4/10|n.769C>G|||||| 22 46746319 . G A . . ANN=A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|5/11|c.610G>A|p.Ala204Thr|974/1964|610/1266|204/421||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|4/10|c.268G>A|p.Ala90Thr|867/1857|268/924|90/307||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|4/10|c.190G>A|p.Ala64Thr|808/1798|190/846|64/281||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|4/9|c.190G>A|p.Ala64Thr|808/1715|190/711|64/236||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|5/10|c.610G>A|p.Ala204Thr|974/1881|610/1131|204/376||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|5/11|n.919G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|4/10|n.812G>A|||||| 22 46746407 . G A . . ANN=A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|5/10|c.651+47G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|4/9|c.309+47G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|4/9|c.231+47G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|4/8|c.231+47G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|5/9|c.651+47G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|5/10|n.960+47G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|4/9|n.853+47G>A|||||| 22 46747975 . C T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|5/10|c.652-43C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|4/9|c.310-43C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|4/9|c.232-43C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|4/8|c.232-43C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|5/9|c.652-43C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|5/10|n.961-43C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|4/9|n.854-43C>T|||||| 22 46747995 . C T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|5/10|c.652-23C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|4/9|c.310-23C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|4/9|c.232-23C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|4/8|c.232-23C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|5/9|c.652-23C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|5/10|n.961-23C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|4/9|n.854-23C>T|||||| 22 46748026 . C T . . ANN=T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|6/11|c.660C>T|p.Gly220Gly|1024/1964|660/1266|220/421||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|5/10|c.318C>T|p.Gly106Gly|917/1857|318/924|106/307||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|5/10|c.240C>T|p.Gly80Gly|858/1798|240/846|80/281||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|5/9|c.240C>T|p.Gly80Gly|858/1715|240/711|80/236||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|6/10|c.660C>T|p.Gly220Gly|1024/1881|660/1131|220/376||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|6/11|n.969C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|5/10|n.862C>T|||||| 22 46748130 . C G . . ANN=G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|6/10|c.706-31C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|5/9|c.364-31C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|5/9|c.286-31C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|5/8|c.286-31C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|6/9|c.706-31C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|6/10|n.1015-31C>G||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|5/9|n.908-31C>G|||||| 22 46748133 . C T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|6/10|c.706-28C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|5/9|c.364-28C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|5/9|c.286-28C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|5/8|c.286-28C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|6/9|c.706-28C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|6/10|n.1015-28C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|5/9|n.908-28C>T|||||| 22 46748137 . G A . . ANN=A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|6/10|c.706-24G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|5/9|c.364-24G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|5/9|c.286-24G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|5/8|c.286-24G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|6/9|c.706-24G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|6/10|n.1015-24G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|5/9|n.908-24G>A|||||| 22 46749634 . C T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|7/10|c.773-30C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|6/9|c.431-30C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|6/9|c.353-30C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|6/8|c.353-30C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|7/9|c.773-30C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|7/10|n.1082-30C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|6/9|n.975-30C>T|||||| 22 46749744 . G A . . ANN=A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|8/11|c.853G>A|p.Val285Ile|1217/1964|853/1266|285/421||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|7/10|c.511G>A|p.Val171Ile|1110/1857|511/924|171/307||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|7/10|c.433G>A|p.Val145Ile|1051/1798|433/846|145/281||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|7/9|c.433G>A|p.Val145Ile|1051/1715|433/711|145/236||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|8/10|c.853G>A|p.Val285Ile|1217/1881|853/1131|285/376||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|8/11|n.1162G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|7/10|n.1055G>A|||||| 22 46749755 . C T . . ANN=T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|8/11|c.864C>T|p.Asp288Asp|1228/1964|864/1266|288/421||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|7/10|c.522C>T|p.Asp174Asp|1121/1857|522/924|174/307||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|7/10|c.444C>T|p.Asp148Asp|1062/1798|444/846|148/281||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|7/9|c.444C>T|p.Asp148Asp|1062/1715|444/711|148/236||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|8/10|c.864C>T|p.Asp288Asp|1228/1881|864/1131|288/376||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|8/11|n.1173C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|7/10|n.1066C>T|||||| 22 46751367 . G T . . ANN=T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.900G>T|p.Leu300Leu|1264/1964|900/1266|300/421||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.558G>T|p.Leu186Leu|1157/1857|558/924|186/307||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.480G>T|p.Leu160Leu|1098/1798|480/846|160/281||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.480G>T|p.Leu160Leu|1098/1715|480/711|160/236||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.900G>T|p.Leu300Leu|1264/1881|900/1131|300/376||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1209G>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1102G>T|||||| 22 46751369 . A G . . ANN=G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.902A>G|p.Tyr301Cys|1266/1964|902/1266|301/421||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.560A>G|p.Tyr187Cys|1159/1857|560/924|187/307||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.482A>G|p.Tyr161Cys|1100/1798|482/846|161/281||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.482A>G|p.Tyr161Cys|1100/1715|482/711|161/236||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.902A>G|p.Tyr301Cys|1266/1881|902/1131|301/376||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1211A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1104A>G|||||| 22 46751377 . C G . . ANN=G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.910C>G|p.Leu304Val|1274/1964|910/1266|304/421||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.568C>G|p.Leu190Val|1167/1857|568/924|190/307||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.490C>G|p.Leu164Val|1108/1798|490/846|164/281||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.490C>G|p.Leu164Val|1108/1715|490/711|164/236||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.910C>G|p.Leu304Val|1274/1881|910/1131|304/376||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1219C>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1112C>G|||||| 22 46751394 . C T . . ANN=T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.927C>T|p.Arg309Arg|1291/1964|927/1266|309/421||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.585C>T|p.Arg195Arg|1184/1857|585/924|195/307||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.507C>T|p.Arg169Arg|1125/1798|507/846|169/281||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.507C>T|p.Arg169Arg|1125/1715|507/711|169/236||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.927C>T|p.Arg309Arg|1291/1881|927/1131|309/376||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1236C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1129C>T|||||| 22 46751415 . G A . . ANN=A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.948G>A|p.Glu316Glu|1312/1964|948/1266|316/421||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.606G>A|p.Glu202Glu|1205/1857|606/924|202/307||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.528G>A|p.Glu176Glu|1146/1798|528/846|176/281||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.528G>A|p.Glu176Glu|1146/1715|528/711|176/236||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.948G>A|p.Glu316Glu|1312/1881|948/1131|316/376||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1257G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1150G>A|||||| 22 46751426 . C T . . ANN=T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.959C>T|p.Ala320Val|1323/1964|959/1266|320/421||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.617C>T|p.Ala206Val|1216/1857|617/924|206/307||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.539C>T|p.Ala180Val|1157/1798|539/846|180/281||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.539C>T|p.Ala180Val|1157/1715|539/711|180/236||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.959C>T|p.Ala320Val|1323/1881|959/1131|320/376||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1268C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1161C>T|||||| 22 46751430 . G A . . ANN=A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.963G>A|p.Leu321Leu|1327/1964|963/1266|321/421||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.621G>A|p.Leu207Leu|1220/1857|621/924|207/307||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.543G>A|p.Leu181Leu|1161/1798|543/846|181/281||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.543G>A|p.Leu181Leu|1161/1715|543/711|181/236||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.963G>A|p.Leu321Leu|1327/1881|963/1131|321/376||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1272G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1165G>A|||||| 22 46751443 . A G . . ANN=G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.976A>G|p.Met326Val|1340/1964|976/1266|326/421||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.634A>G|p.Met212Val|1233/1857|634/924|212/307||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.556A>G|p.Met186Val|1174/1798|556/846|186/281||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.556A>G|p.Met186Val|1174/1715|556/711|186/236||,G|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.976A>G|p.Met326Val|1340/1881|976/1131|326/376||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1285A>G||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1178A>G|||||| 22 46751468 . G A . . ANN=A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|9/11|c.1001G>A|p.Arg334His|1365/1964|1001/1266|334/421||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/10|c.659G>A|p.Arg220His|1258/1857|659/924|220/307||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/10|c.581G>A|p.Arg194His|1199/1798|581/846|194/281||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/9|c.581G>A|p.Arg194His|1199/1715|581/711|194/236||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/10|c.1001G>A|p.Arg334His|1365/1881|1001/1131|334/376||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/11|n.1310G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/10|n.1203G>A|||||| 22 46751501 . GCTC G . . ANN=G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|9/10|c.1018+17_1018+19delCTC||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/9|c.676+17_676+19delCTC||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/9|c.598+17_598+19delCTC||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/8|c.598+17_598+19delCTC||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/9|c.1018+17_1018+19delCTC||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/10|n.1327+17_1327+19delCTC||||||,G|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/9|n.1220+17_1220+19delCTC|||||| 22 46751530 . G A . . ANN=A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|9/10|c.1018+45G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/9|c.676+45G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/9|c.598+45G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/8|c.598+45G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/9|c.1018+45G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/10|n.1327+45G>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/9|n.1220+45G>A|||||| 22 46751863 . C T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|9/10|c.1019-24C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/9|c.677-24C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/9|c.599-24C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/8|c.598+378C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/9|c.1018+378C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/10|n.1328-24C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/9|n.1221-24C>T|||||| 22 46751869 . C A . . ANN=A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|9/10|c.1019-18C>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|8/9|c.677-18C>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|8/9|c.599-18C>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/8|c.598+384C>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/9|c.1018+384C>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|9/10|n.1328-18C>A||||||,A|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|8/9|n.1221-18C>A|||||| 22 46751949 . C T . . ANN=T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|10/11|c.1081C>T|p.Arg361Cys|1445/1964|1081/1266|361/421||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|9/10|c.739C>T|p.Arg247Cys|1338/1857|739/924|247/307||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|9/10|c.661C>T|p.Arg221Cys|1279/1798|661/846|221/281||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/8|c.598+464C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/9|c.1018+464C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|10/11|n.1390C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|9/10|n.1283C>T|||||| 22 46752019 . C T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|10/10|c.1101+50C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|9/9|c.759+50C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|9/9|c.681+50C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/8|c.598+534C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/9|c.1018+534C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|10/10|n.1410+50C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|9/9|n.1303+50C>T|||||| 22 46752708 . C T . . ANN=T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|10/10|c.1102-31C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|9/9|c.760-31C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|9/9|c.682-31C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/8|c.599-31C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/9|c.1019-31C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|10/10|n.1411-31C>T||||||,T|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|9/9|n.1304-31C>T|||||| 22 46752712 . CCT C . . ANN=C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|10/10|c.1102-26_1102-25delCT||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|9/9|c.760-26_760-25delCT||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|9/9|c.682-26_682-25delCT||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|8/8|c.599-26_599-25delCT||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|9/9|c.1019-26_1019-25delCT||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|10/10|n.1411-26_1411-25delCT||||||,C|intron_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|9/9|n.1304-26_1304-25delCT|||||| 22 46752795 . G A . . ANN=A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.655G>A|p.Gly219Arg|1273/1715|655/711|219/236||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.1075G>A|p.Gly359Arg|1439/1881|1075/1131|359/376||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.1158G>A|p.Leu386Leu|1522/1964|1158/1266|386/421||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.816G>A|p.Leu272Leu|1415/1857|816/924|272/307||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.738G>A|p.Leu246Leu|1356/1798|738/846|246/281||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1467G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1360G>A|||||| 22 46752800 . C T . . ANN=T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.1163C>T|p.Pro388Leu|1527/1964|1163/1266|388/421||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.821C>T|p.Pro274Leu|1420/1857|821/924|274/307||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.743C>T|p.Pro248Leu|1361/1798|743/846|248/281||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.660C>T|p.Ala220Ala|1278/1715|660/711|220/236||,T|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.1080C>T|p.Ala360Ala|1444/1881|1080/1131|360/376||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1472C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1365C>T|||||| 22 46752801 . G A . . ANN=A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.661G>A|p.Val221Ile|1279/1715|661/711|221/236||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.1081G>A|p.Val361Ile|1445/1881|1081/1131|361/376||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.1164G>A|p.Pro388Pro|1528/1964|1164/1266|388/421||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.822G>A|p.Pro274Pro|1421/1857|822/924|274/307||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.744G>A|p.Pro248Pro|1362/1798|744/846|248/281||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1473G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1366G>A|||||| 22 46752813 . G A . . ANN=A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.673G>A|p.Ala225Thr|1291/1715|673/711|225/236||,A|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.1093G>A|p.Ala365Thr|1457/1881|1093/1131|365/376||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.1176G>A|p.Thr392Thr|1540/1964|1176/1266|392/421||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.834G>A|p.Thr278Thr|1433/1857|834/924|278/307||,A|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.756G>A|p.Thr252Thr|1374/1798|756/846|252/281||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1485G>A||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1378G>A|||||| 22 46752829 . C T . . ANN=T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.1192C>T|p.Arg398Cys|1556/1964|1192/1266|398/421||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.850C>T|p.Arg284Cys|1449/1857|850/924|284/307||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.772C>T|p.Arg258Cys|1390/1798|772/846|258/281||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.689C>T|p.Ala230Val|1307/1715|689/711|230/236||,T|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.1109C>T|p.Ala370Val|1473/1881|1109/1131|370/376||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1501C>T||||||,T|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1394C>T|||||| 22 46752840 . G C . . ANN=C|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.700G>C|p.Asp234His|1318/1715|700/711|234/236||,C|missense_variant|MODERATE|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.1120G>C|p.Asp374His|1484/1881|1120/1131|374/376||,C|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.1203G>C|p.Gly401Gly|1567/1964|1203/1266|401/421||,C|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.861G>C|p.Gly287Gly|1460/1857|861/924|287/307||,C|synonymous_variant|LOW|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.783G>C|p.Gly261Gly|1401/1798|783/846|261/281||,C|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1512G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1405G>C|||||| 22 46752911 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.*8G>C|||||8|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.*8G>C|||||8|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.*8G>C|||||8|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.*60G>C|||||60|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.*60G>C|||||60|,C|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1583G>C||||||,C|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1476G>C|||||| 22 46752946 . T A,C,G . . ANN=A|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.*43T>A|||||43|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.*43T>C|||||43|,G|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_018006.4|Coding|11/11|c.*43T>G|||||43|,A|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.*43T>A|||||43|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.*43T>C|||||43|,G|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282782.1|Coding|10/10|c.*43T>G|||||43|,A|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.*43T>A|||||43|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.*43T>C|||||43|,G|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282783.1|Coding|10/10|c.*43T>G|||||43|,A|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.*95T>A|||||95|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.*95T>C|||||95|,G|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282784.1|Coding|9/9|c.*95T>G|||||95|,A|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.*95T>A|||||95|,C|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.*95T>C|||||95|,G|3_prime_UTR_variant|MODIFIER|TRMU|TRMU|transcript|NM_001282785.1|Coding|10/10|c.*95T>G|||||95|,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1618T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1618T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104240.1|Noncoding|11/11|n.1618T>G||||||,A|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1511T>A||||||,C|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1511T>C||||||,G|non_coding_exon_variant|MODIFIER|TRMU|TRMU|transcript|NR_104241.1|Noncoding|10/10|n.1511T>G|||||| 22 46759084 . CCTGATGGTTCAAATTGAAGTTTCATTA C . . ANN=C|splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/34|c.9036-27_9036-1delTAATGAAACTTCAATTTGAACCATCAG||||||;LOF=(CELSR1|CELSR1|1|1.00) 22 46759901 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.9027C>T|p.Ser3009Ser|9027/11389|9027/9045|3009/3014|| 22 46759927 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.9001A>G|p.Thr3001Ala|9001/11389|9001/9045|3001/3014|| 22 46759934 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8994T>C|p.Asn2998Asn|8994/11389|8994/9045|2998/3014|| 22 46759940 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8988C>G|p.Ala2996Ala|8988/11389|8988/9045|2996/3014|| 22 46759949 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8979C>T|p.Asn2993Asn|8979/11389|8979/9045|2993/3014|| 22 46759967 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8961G>A|p.Pro2987Pro|8961/11389|8961/9045|2987/3014|| 22 46759981 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8947C>G|p.Pro2983Ala|8947/11389|8947/9045|2983/3014|| 22 46760000 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8928C>T|p.Cys2976Cys|8928/11389|8928/9045|2976/3014|| 22 46760006 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8922C>T|p.Pro2974Pro|8922/11389|8922/9045|2974/3014|| 22 46760011 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8917G>A|p.Gly2973Ser|8917/11389|8917/9045|2973/3014|| 22 46760030 . CGTGCGCGAGGAT C . . ANN=C|disruptive_inframe_deletion|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8886_8897delATCCTCGCGCAC|p.Ser2963_Thr2966del|8897/11389|8886/9045|2962/3014|| 22 46760037 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8891C>T|p.Ser2964Leu|8891/11389|8891/9045|2964/3014|| 22 46760065 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8863G>A|p.Ala2955Thr|8863/11389|8863/9045|2955/3014|| 22 46760086 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8842G>A|p.Gly2948Ser|8842/11389|8842/9045|2948/3014|| 22 46760102 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8826G>A|p.Thr2942Thr|8826/11389|8826/9045|2942/3014|| 22 46760121 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|34/35|c.8807C>T|p.Pro2936Leu|8807/11389|8807/9045|2936/3014|| 22 46760193 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|33/34|c.8780-45G>A|||||| 22 46760394 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|33/34|c.8779+15C>T|||||| 22 46760416 . C G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|33/35|c.8772G>C|p.Gln2924His|8772/11389|8772/9045|2924/3014|| 22 46760470 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|33/35|c.8718G>A|p.Pro2906Pro|8718/11389|8718/9045|2906/3014|| 22 46760481 . C G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|33/35|c.8707G>C|p.Glu2903Gln|8707/11389|8707/9045|2903/3014|| 22 46760507 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|33/35|c.8681G>A|p.Arg2894His|8681/11389|8681/9045|2894/3014|| 22 46760605 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|33/35|c.8583C>T|p.Ala2861Ala|8583/11389|8583/9045|2861/3014|| 22 46760648 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|32/34|c.8555-15G>A|||||| 22 46760664 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|32/34|c.8555-31C>T|||||| 22 46760665 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|32/34|c.8555-32G>A|||||| 22 46761111 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|32/34|c.8554+17C>T|||||| 22 46761135 . G T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|32/35|c.8547C>A|p.Thr2849Thr|8547/11389|8547/9045|2849/3014|| 22 46761147 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|32/35|c.8535C>T|p.Ala2845Ala|8535/11389|8535/9045|2845/3014|| 22 46761221 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|32/35|c.8461G>A|p.Ala2821Thr|8461/11389|8461/9045|2821/3014|| 22 46761321 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/34|c.8405-44C>T|||||| 22 46761435 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/34|c.8404+48G>A|||||| 22 46761440 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/34|c.8404+43C>T|||||| 22 46761441 . A T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/34|c.8404+42T>A|||||| 22 46761454 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/34|c.8404+29C>T|||||| 22 46761455 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/34|c.8404+28C>T|||||| 22 46761497 . C G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/35|c.8390G>C|p.Cys2797Ser|8390/11389|8390/9045|2797/3014|| 22 46761520 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/35|c.8367C>T|p.Asp2789Asp|8367/11389|8367/9045|2789/3014|| 22 46761561 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/35|c.8326G>A|p.Val2776Met|8326/11389|8326/9045|2776/3014|| 22 46761565 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/35|c.8322C>G|p.Leu2774Leu|8322/11389|8322/9045|2774/3014|| 22 46761568 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|31/35|c.8319G>A|p.Lys2773Lys|8319/11389|8319/9045|2773/3014|| 22 46761595 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|30/34|c.8301-9C>T|||||| 22 46761601 . G T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|30/34|c.8301-15C>A|||||| 22 46761623 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|30/34|c.8301-37C>T|||||| 22 46762260 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|30/34|c.8300+23G>A|||||| 22 46762266 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|30/34|c.8300+17G>A|||||| 22 46762342 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|30/35|c.8241G>A|p.Gly2747Gly|8241/11389|8241/9045|2747/3014|| 22 46762345 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|30/35|c.8238C>T|p.Asp2746Asp|8238/11389|8238/9045|2746/3014|| 22 46762360 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|30/35|c.8223C>T|p.Asn2741Asn|8223/11389|8223/9045|2741/3014|| 22 46762854 . A G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|29/34|c.8205+36T>C|||||| 22 46762855 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|29/34|c.8205+35C>T|||||| 22 46762863 . T A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|29/34|c.8205+27A>T|||||| 22 46762891 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|29/35|c.8204C>T|p.Thr2735Met|8204/11389|8204/9045|2735/3014|| 22 46762902 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|29/35|c.8193C>T|p.Ala2731Ala|8193/11389|8193/9045|2731/3014|| 22 46762970 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|29/35|c.8125C>G|p.Arg2709Gly|8125/11389|8125/9045|2709/3014|| 22 46762988 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|29/35|c.8107G>A|p.Val2703Met|8107/11389|8107/9045|2703/3014|| 22 46763007 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|29/35|c.8088C>T|p.Phe2696Phe|8088/11389|8088/9045|2696/3014|| 22 46763578 . T C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|28/34|c.8079+48A>G|||||| 22 46763583 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|28/34|c.8079+43C>T|||||| 22 46763584 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|28/34|c.8079+42G>A|||||| 22 46763665 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|28/35|c.8040G>A|p.Leu2680Leu|8040/11389|8040/9045|2680/3014|| 22 46763671 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|28/35|c.8034T>C|p.Asp2678Asp|8034/11389|8034/9045|2678/3014|| 22 46763692 . C A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|28/35|c.8013G>T|p.Gly2671Gly|8013/11389|8013/9045|2671/3014|| 22 46763734 . T C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|28/35|c.7971A>G|p.Ala2657Ala|7971/11389|7971/9045|2657/3014|| 22 46763757 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|27/34|c.7953-5C>T|||||| 22 46765181 . G GTCAGGTCGCCGAC . . ANN=GTCAGGTCGCCGAC|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|26/34|c.7873-27_7873-26insGTCGGCGACCTGA|||||| 22 46765577 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|26/34|c.7872+12G>A|||||| 22 46765593 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|26/35|c.7868T>C|p.Ile2623Thr|7868/11389|7868/9045|2623/3014|| 22 46765713 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|25/34|c.7760-12C>T|||||| 22 46768767 . T C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|25/34|c.7759+13A>G|||||| 22 46768810 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|25/35|c.7729G>A|p.Val2577Met|7729/11389|7729/9045|2577/3014|| 22 46768811 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|25/35|c.7728C>T|p.Val2576Val|7728/11389|7728/9045|2576/3014|| 22 46768889 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|25/35|c.7650C>T|p.Leu2550Leu|7650/11389|7650/9045|2550/3014|| 22 46772949 . T A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/34|c.7584+9A>T|||||| 22 46772958 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7584G>A|p.Pro2528Pro|7584/11389|7584/9045|2528/3014|| 22 46772988 . G A,T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7554C>A|p.Phe2518Leu|7554/11389|7554/9045|2518/3014||,A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7554C>T|p.Phe2518Phe|7554/11389|7554/9045|2518/3014|| 22 46773018 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7524C>T|p.Ala2508Ala|7524/11389|7524/9045|2508/3014|| 22 46773053 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7489C>T|p.Arg2497Cys|7489/11389|7489/9045|2497/3014|| 22 46773059 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7483A>G|p.Met2495Val|7483/11389|7483/9045|2495/3014|| 22 46773120 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7422C>T|p.Ala2474Ala|7422/11389|7422/9045|2474/3014|| 22 46773124 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7418A>G|p.Tyr2473Cys|7418/11389|7418/9045|2473/3014|| 22 46773128 . T A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7414A>T|p.Thr2472Ser|7414/11389|7414/9045|2472/3014|| 22 46773147 . G T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7395C>A|p.Val2465Val|7395/11389|7395/9045|2465/3014|| 22 46773156 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|24/35|c.7386C>T|p.Asn2462Asn|7386/11389|7386/9045|2462/3014|| 22 46774446 . C G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|23/34|c.7383+42G>C|||||| 22 46774447 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|23/34|c.7383+41C>T|||||| 22 46774619 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|22/34|c.7257-5C>T|||||| 22 46774624 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|22/34|c.7257-10C>T|||||| 22 46774649 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|22/34|c.7257-35G>A|||||| 22 46776707 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|22/35|c.7234G>A|p.Val2412Met|7234/11389|7234/9045|2412/3014|| 22 46776747 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|22/35|c.7194C>T|p.Phe2398Phe|7194/11389|7194/9045|2398/3014|| 22 46776762 . G T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|22/35|c.7179C>A|p.Pro2393Pro|7179/11389|7179/9045|2393/3014|| 22 46776787 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|22/35|c.7154C>T|p.Pro2385Leu|7154/11389|7154/9045|2385/3014|| 22 46776841 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|22/35|c.7100G>A|p.Arg2367Gln|7100/11389|7100/9045|2367/3014|| 22 46776861 . A G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|21/34|c.7089-9T>C|||||| 22 46777719 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|21/34|c.7088+24C>T|||||| 22 46777817 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|21/35|c.7014C>T|p.Val2338Val|7014/11389|7014/9045|2338/3014|| 22 46777841 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|21/35|c.6990T>C|p.Pro2330Pro|6990/11389|6990/9045|2330/3014|| 22 46777880 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|21/35|c.6951C>T|p.Thr2317Thr|6951/11389|6951/9045|2317/3014|| 22 46777892 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|21/35|c.6939G>A|p.Pro2313Pro|6939/11389|6939/9045|2313/3014|| 22 46777896 . C G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|21/35|c.6935G>C|p.Arg2312Pro|6935/11389|6935/9045|2312/3014|| 22 46777928 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|21/35|c.6903G>A|p.Pro2301Pro|6903/11389|6903/9045|2301/3014|| 22 46780413 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/34|c.6883+27G>A|||||| 22 46780426 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/34|c.6883+14G>A|||||| 22 46780432 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/34|c.6883+8C>T|||||| 22 46780446 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/35|c.6877G>A|p.Glu2293Lys|6877/11389|6877/9045|2293/3014|| 22 46780465 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/35|c.6858C>G|p.Asp2286Glu|6858/11389|6858/9045|2286/3014|| 22 46780477 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/35|c.6846C>T|p.Ser2282Ser|6846/11389|6846/9045|2282/3014|| 22 46780521 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/35|c.6802A>G|p.Thr2268Ala|6802/11389|6802/9045|2268/3014|| 22 46780531 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/35|c.6792G>A|p.Pro2264Pro|6792/11389|6792/9045|2264/3014|| 22 46780552 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/35|c.6771C>G|p.Asn2257Lys|6771/11389|6771/9045|2257/3014|| 22 46780573 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|20/35|c.6750C>T|p.Val2250Val|6750/11389|6750/9045|2250/3014|| 22 46780621 . G C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/34|c.6740-38C>G|||||| 22 46782249 . A G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/34|c.6739+50T>C|||||| 22 46782283 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/34|c.6739+16C>T|||||| 22 46782291 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/34|c.6739+8G>A|||||| 22 46782327 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/35|c.6711G>A|p.Arg2237Arg|6711/11389|6711/9045|2237/3014|| 22 46782336 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/35|c.6702G>A|p.Thr2234Thr|6702/11389|6702/9045|2234/3014|| 22 46782340 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/35|c.6698G>A|p.Arg2233Gln|6698/11389|6698/9045|2233/3014|| 22 46782382 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/35|c.6656G>A|p.Arg2219His|6656/11389|6656/9045|2219/3014|| 22 46782461 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/35|c.6577G>A|p.Ala2193Thr|6577/11389|6577/9045|2193/3014|| 22 46782462 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|19/35|c.6576C>T|p.Ser2192Ser|6576/11389|6576/9045|2192/3014|| 22 46782531 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/34|c.6556-49C>T|||||| 22 46785139 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/34|c.6555+48G>A|||||| 22 46785140 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/34|c.6555+47C>T|||||| 22 46785145 . TC T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/34|c.6555+41delG|||||| 22 46785169 . T C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/34|c.6555+18A>G|||||| 22 46785201 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6541G>A|p.Ala2181Thr|6541/11389|6541/9045|2181/3014|| 22 46785202 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6540C>T|p.Asp2180Asp|6540/11389|6540/9045|2180/3014|| 22 46785286 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6456C>T|p.Asp2152Asp|6456/11389|6456/9045|2152/3014|| 22 46785301 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6441G>A|p.Thr2147Thr|6441/11389|6441/9045|2147/3014|| 22 46785302 . G T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6440C>A|p.Thr2147Lys|6440/11389|6440/9045|2147/3014|| 22 46785308 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6434C>T|p.Thr2145Met|6434/11389|6434/9045|2145/3014|| 22 46785331 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6411G>A|p.Ala2137Ala|6411/11389|6411/9045|2137/3014|| 22 46785370 . C A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6372G>T|p.Thr2124Thr|6372/11389|6372/9045|2124/3014|| 22 46785376 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|18/35|c.6366T>C|p.Asn2122Asn|6366/11389|6366/9045|2122/3014|| 22 46785417 . T C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|17/34|c.6346-21A>G|||||| 22 46785418 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|17/34|c.6346-22C>T|||||| 22 46785432 . C G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|17/34|c.6346-36G>C|||||| 22 46786261 . T C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|17/34|c.6345+28A>G|||||| 22 46786263 . AAC A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|17/34|c.6345+24_6345+25delGT|||||| 22 46786275 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|17/34|c.6345+14G>A|||||| 22 46786281 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|17/34|c.6345+8C>T|||||| 22 46786315 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|17/35|c.6319A>G|p.Ile2107Val|6319/11389|6319/9045|2107/3014|| 22 46787086 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|16/35|c.6247G>A|p.Val2083Ile|6247/11389|6247/9045|2083/3014|| 22 46787480 . C A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|15/34|c.6148+50G>T|||||| 22 46787544 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|15/35|c.6134C>T|p.Thr2045Met|6134/11389|6134/9045|2045/3014|| 22 46787570 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|15/35|c.6108C>T|p.Cys2036Cys|6108/11389|6108/9045|2036/3014|| 22 46787600 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|15/35|c.6078C>T|p.Pro2026Pro|6078/11389|6078/9045|2026/3014|| 22 46787694 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|15/35|c.5984T>C|p.Leu1995Pro|5984/11389|5984/9045|1995/3014|| 22 46787697 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|15/35|c.5981T>C|p.Leu1994Pro|5981/11389|5981/9045|1994/3014|| 22 46787753 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|14/34|c.5965-40G>A|||||| 22 46790007 . A G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|14/34|c.5964+32T>C|||||| 22 46790029 . G T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|14/34|c.5964+10C>A|||||| 22 46790142 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|14/35|c.5861C>T|p.Pro1954Leu|5861/11389|5861/9045|1954/3014|| 22 46790147 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|14/35|c.5856G>A|p.Pro1952Pro|5856/11389|5856/9045|1952/3014|| 22 46790156 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|14/35|c.5847C>T|p.Leu1949Leu|5847/11389|5847/9045|1949/3014|| 22 46790159 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|14/35|c.5844A>G|p.Lys1948Lys|5844/11389|5844/9045|1948/3014|| 22 46790182 . G T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|13/34|c.5844-23C>A|||||| 22 46792460 . T A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|13/34|c.5843+42A>T|||||| 22 46792689 . C A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|12/34|c.5702-46G>T|||||| 22 46793555 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|12/34|c.5701+16C>T|||||| 22 46793592 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|12/35|c.5680T>C|p.Tyr1894His|5680/11389|5680/9045|1894/3014|| 22 46793650 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|12/35|c.5622C>T|p.Asp1874Asp|5622/11389|5622/9045|1874/3014|| 22 46793713 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|12/35|c.5559C>T|p.Val1853Val|5559/11389|5559/9045|1853/3014|| 22 46793767 . G T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|11/34|c.5527-22C>A|||||| 22 46793783 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|11/34|c.5527-38C>T|||||| 22 46793789 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|11/34|c.5527-44C>T|||||| 22 46794392 . TC T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|11/34|c.5526+28delG|||||| 22 46794398 . C G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|11/34|c.5526+23G>C|||||| 22 46794475 . T C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|11/35|c.5472A>G|p.Gly1824Gly|5472/11389|5472/9045|1824/3014|| 22 46794515 . C A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|11/35|c.5432G>T|p.Gly1811Val|5432/11389|5432/9045|1811/3014|| 22 46794525 . C A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|11/35|c.5422G>T|p.Asp1808Tyr|5422/11389|5422/9045|1808/3014|| 22 46794561 . T C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|10/34|c.5413-27A>G|||||| 22 46794563 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|10/34|c.5413-29C>T|||||| 22 46795564 . T C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|10/34|c.5412+50A>G|||||| 22 46795569 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|10/34|c.5412+45G>A|||||| 22 46795580 . T G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|10/34|c.5412+34A>C|||||| 22 46795760 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|10/35|c.5266C>T|p.Pro1756Ser|5266/11389|5266/9045|1756/3014|| 22 46795832 . T C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|9/34|c.5227-33A>G|||||| 22 46804862 . A C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|9/34|c.5226+31T>G|||||| 22 46804878 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|9/34|c.5226+15G>A|||||| 22 46805007 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|9/35|c.5112C>T|p.Asp1704Asp|5112/11389|5112/9045|1704/3014|| 22 46805034 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|9/35|c.5085C>T|p.Ser1695Ser|5085/11389|5085/9045|1695/3014|| 22 46805612 . G C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|8/34|c.5059+40C>G|||||| 22 46805617 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|8/34|c.5059+35G>A|||||| 22 46805642 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|8/34|c.5059+10C>T|||||| 22 46805643 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|8/34|c.5059+9C>T|||||| 22 46805772 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|8/35|c.4939G>A|p.Ala1647Thr|4939/11389|4939/9045|1647/3014|| 22 46805819 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|7/34|c.4934-42G>A|||||| 22 46806274 . CG C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|7/34|c.4933+20delC|||||| 22 46806275 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|7/34|c.4933+20C>T|||||| 22 46806301 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|7/35|c.4927C>T|p.Arg1643Trp|4927/11389|4927/9045|1643/3014|| 22 46806326 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|7/35|c.4902C>T|p.Ala1634Ala|4902/11389|4902/9045|1634/3014|| 22 46806346 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|7/35|c.4882G>A|p.Gly1628Ser|4882/11389|4882/9045|1628/3014|| 22 46806419 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|7/35|c.4809C>T|p.Val1603Val|4809/11389|4809/9045|1603/3014|| 22 46806486 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|6/34|c.4770-28G>A|||||| 22 46807468 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|6/34|c.4769+31G>A|||||| 22 46807510 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|6/35|c.4758C>T|p.Thr1586Thr|4758/11389|4758/9045|1586/3014|| 22 46807585 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|6/35|c.4683T>C|p.Asp1561Asp|4683/11389|4683/9045|1561/3014|| 22 46807698 . A G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|5/34|c.4612-42T>C|||||| 22 46829252 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|5/34|c.4611+38C>T|||||| 22 46829276 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|5/34|c.4611+14C>T|||||| 22 46829329 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|5/35|c.4572C>T|p.Asp1524Asp|4572/11389|4572/9045|1524/3014|| 22 46829377 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|5/35|c.4524C>T|p.Gly1508Gly|4524/11389|4524/9045|1508/3014|| 22 46829412 . A G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|4/34|c.4523-34T>C|||||| 22 46829421 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|4/34|c.4523-43G>A|||||| 22 46829422 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|4/34|c.4523-44C>T|||||| 22 46829423 . G C . . ANN=C|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|4/34|c.4523-45C>G|||||| 22 46832056 . G GGGAGAAGGCCCCACCTGC . . ANN=GGGAGAAGGCCCCACCTGC|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|4/34|c.4522+14_4522+15insGCAGGTGGGGCCTTCTCC|||||| 22 46832075 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|4/35|c.4518T>C|p.Ser1506Ser|4518/11389|4518/9045|1506/3014|| 22 46835036 . G GT . . ANN=GT|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|3/34|c.4406+49_4406+50insA|||||| 22 46835037 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|3/34|c.4406+49G>A|||||| 22 46835054 . C A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|3/34|c.4406+32G>T|||||| 22 46835058 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|3/34|c.4406+28G>A|||||| 22 46835115 . T C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|3/35|c.4377A>G|p.Arg1459Arg|4377/11389|4377/9045|1459/3014|| 22 46835192 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|3/35|c.4300G>A|p.Glu1434Lys|4300/11389|4300/9045|1434/3014|| 22 46835265 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|3/35|c.4227C>T|p.Asn1409Asn|4227/11389|4227/9045|1409/3014|| 22 46835289 . A G . . ANN=G|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|3/35|c.4203T>C|p.Asp1401Asp|4203/11389|4203/9045|1401/3014|| 22 46835316 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/34|c.4184-8C>T|||||| 22 46835338 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/34|c.4184-30C>T|||||| 22 46859616 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.4171G>A|p.Glu1391Lys|4171/11389|4171/9045|1391/3014|| 22 46859638 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.4149C>T|p.Gly1383Gly|4149/11389|4149/9045|1383/3014|| 22 46859728 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.4059C>T|p.Pro1353Pro|4059/11389|4059/9045|1353/3014|| 22 46859731 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.4056G>A|p.Pro1352Pro|4056/11389|4056/9045|1352/3014|| 22 46859751 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.4036G>A|p.Gly1346Ser|4036/11389|4036/9045|1346/3014|| 22 46859826 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3961G>A|p.Val1321Ile|3961/11389|3961/9045|1321/3014|| 22 46859832 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3955G>A|p.Val1319Met|3955/11389|3955/9045|1319/3014|| 22 46859900 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3887C>T|p.Thr1296Met|3887/11389|3887/9045|1296/3014|| 22 46859920 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3867G>A|p.Thr1289Thr|3867/11389|3867/9045|1289/3014|| 22 46859957 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3830C>T|p.Ser1277Leu|3830/11389|3830/9045|1277/3014|| 22 46859995 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3792G>A|p.Ala1264Ala|3792/11389|3792/9045|1264/3014|| 22 46860034 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3753C>T|p.Thr1251Thr|3753/11389|3753/9045|1251/3014|| 22 46860049 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3738C>T|p.Asn1246Asn|3738/11389|3738/9045|1246/3014|| 22 46860057 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3730G>A|p.Val1244Ile|3730/11389|3730/9045|1244/3014|| 22 46860063 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3724G>A|p.Val1242Ile|3724/11389|3724/9045|1242/3014|| 22 46860088 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3699C>G|p.Ala1233Ala|3699/11389|3699/9045|1233/3014|| 22 46860184 . G T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3603C>A|p.Asp1201Glu|3603/11389|3603/9045|1201/3014|| 22 46860223 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|2/35|c.3564G>A|p.Thr1188Thr|3564/11389|3564/9045|1188/3014|| 22 46860281 . C T . . ANN=T|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/34|c.3545-39G>A|||||| 22 46929490 . A G . . ANN=G|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/34|c.3544+34T>C|||||| 22 46929495 . C A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/34|c.3544+29G>T|||||| 22 46929511 . G A . . ANN=A|intron_variant|MODIFIER|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/34|c.3544+13C>T|||||| 22 46929597 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3471G>A|p.Thr1157Thr|3471/11389|3471/9045|1157/3014|| 22 46929683 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3385G>A|p.Ala1129Thr|3385/11389|3385/9045|1129/3014|| 22 46929692 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3376T>C|p.Cys1126Arg|3376/11389|3376/9045|1126/3014|| 22 46929702 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3366C>G|p.Gly1122Gly|3366/11389|3366/9045|1122/3014|| 22 46929704 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3364G>A|p.Gly1122Ser|3364/11389|3364/9045|1122/3014|| 22 46929816 . T C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3252A>G|p.Arg1084Arg|3252/11389|3252/9045|1084/3014|| 22 46929828 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3240G>A|p.Pro1080Pro|3240/11389|3240/9045|1080/3014|| 22 46929877 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3191T>C|p.Phe1064Ser|3191/11389|3191/9045|1064/3014|| 22 46929899 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3169C>T|p.Arg1057Cys|3169/11389|3169/9045|1057/3014|| 22 46930013 . C A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.3055G>T|p.Ala1019Ser|3055/11389|3055/9045|1019/3014|| 22 46930107 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2961G>A|p.Val987Val|2961/11389|2961/9045|987/3014|| 22 46930138 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2930C>T|p.Thr977Ile|2930/11389|2930/9045|977/3014|| 22 46930205 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2863C>T|p.Arg955Trp|2863/11389|2863/9045|955/3014|| 22 46930227 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2841C>T|p.Ser947Ser|2841/11389|2841/9045|947/3014|| 22 46930297 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2771A>G|p.Asn924Ser|2771/11389|2771/9045|924/3014|| 22 46930313 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2755C>T|p.Arg919Trp|2755/11389|2755/9045|919/3014|| 22 46930444 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2624C>T|p.Thr875Ile|2624/11389|2624/9045|875/3014|| 22 46930589 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2479G>A|p.Val827Met|2479/11389|2479/9045|827/3014|| 22 46930733 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2335G>A|p.Val779Ile|2335/11389|2335/9045|779/3014|| 22 46930736 . T G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2332A>C|p.Asn778His|2332/11389|2332/9045|778/3014|| 22 46930750 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2318C>T|p.Ala773Val|2318/11389|2318/9045|773/3014|| 22 46930754 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2314A>G|p.Thr772Ala|2314/11389|2314/9045|772/3014|| 22 46930794 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2274C>T|p.Tyr758Tyr|2274/11389|2274/9045|758/3014|| 22 46930872 . G T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2196C>A|p.Arg732Arg|2196/11389|2196/9045|732/3014|| 22 46930934 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2134C>T|p.Arg712Cys|2134/11389|2134/9045|712/3014|| 22 46930953 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2115C>T|p.Ser705Ser|2115/11389|2115/9045|705/3014|| 22 46931004 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2064G>A|p.Thr688Thr|2064/11389|2064/9045|688/3014|| 22 46931052 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.2016C>T|p.Ser672Ser|2016/11389|2016/9045|672/3014|| 22 46931077 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1991C>G|p.Ser664Trp|1991/11389|1991/9045|664/3014|| 22 46931124 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1944G>A|p.Glu648Glu|1944/11389|1944/9045|648/3014|| 22 46931145 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1923G>A|p.Val641Val|1923/11389|1923/9045|641/3014|| 22 46931187 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1881C>T|p.Asp627Asp|1881/11389|1881/9045|627/3014|| 22 46931219 . C T . . ANN=T|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1849G>A|p.Ala617Thr|1849/11389|1849/9045|617/3014|| 22 46931247 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1821G>A|p.Thr607Thr|1821/11389|1821/9045|607/3014|| 22 46931267 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1801C>T|p.His601Tyr|1801/11389|1801/9045|601/3014|| 22 46931292 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1776G>A|p.Ala592Ala|1776/11389|1776/9045|592/3014|| 22 46931309 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1759A>G|p.Ile587Val|1759/11389|1759/9045|587/3014|| 22 46931402 . G C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1666C>G|p.Leu556Val|1666/11389|1666/9045|556/3014|| 22 46931472 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1596G>A|p.Leu532Leu|1596/11389|1596/9045|532/3014|| 22 46931599 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1469A>G|p.Gln490Arg|1469/11389|1469/9045|490/3014|| 22 46931700 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1368C>T|p.Tyr456Tyr|1368/11389|1368/9045|456/3014|| 22 46931742 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1326G>A|p.Thr442Thr|1326/11389|1326/9045|442/3014|| 22 46931793 . G C . . ANN=C|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1275C>G|p.Leu425Leu|1275/11389|1275/9045|425/3014|| 22 46931838 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1230C>T|p.Ser410Ser|1230/11389|1230/9045|410/3014|| 22 46931953 . A G . . ANN=G|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1115T>C|p.Val372Ala|1115/11389|1115/9045|372/3014|| 22 46932003 . C T . . ANN=T|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1065G>A|p.Gln355Gln|1065/11389|1065/9045|355/3014|| 22 46932030 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1038C>T|p.Thr346Thr|1038/11389|1038/9045|346/3014|| 22 46932032 . T A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.1036A>T|p.Thr346Ser|1036/11389|1036/9045|346/3014|| 22 46932104 . T C . . ANN=C|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.964A>G|p.Arg322Gly|964/11389|964/9045|322/3014|| 22 46932174 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.894C>T|p.Ile298Ile|894/11389|894/9045|298/3014|| 22 46932318 . G A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.750C>T|p.Tyr250Tyr|750/11389|750/9045|250/3014|| 22 46932339 . C A . . ANN=A|synonymous_variant|LOW|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.729G>T|p.Leu243Leu|729/11389|729/9045|243/3014|| 22 46932854 . G A . . ANN=A|missense_variant|MODERATE|CELSR1|CELSR1|transcript|NM_014246.1|Coding|1/35|c.214C>T|p.Arg72Trp|214/11389|214/9045|72/3014|| 22 47022655 . G A . . ANN=A|intergenic_region|MODIFIER|CELSR1-GRAMD4|CELSR1-GRAMD4|intergenic_region|CELSR1-GRAMD4||||||||| 22 47022691 . C T . . ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|1/18|c.-6C>T||||||,T|5_prime_UTR_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|1/18|c.-6C>T|||||6| 22 47022814 . G T . . ANN=T|missense_variant|MODERATE|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|1/18|c.118G>T|p.Val40Leu|157/4316|118/1737|40/578|| 22 47022827 . C T . . ANN=T|missense_variant|MODERATE|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|1/18|c.131C>T|p.Ser44Leu|170/4316|131/1737|44/578|| 22 47022877 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|1/17|c.162+19C>T|||||| 22 47022889 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|1/17|c.162+31G>A|||||| 22 47033693 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|1/17|c.163-44G>A|||||| 22 47033714 . A T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|1/17|c.163-23A>T|||||| 22 47033901 . CA C . . ANN=C|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|2/17|c.283+45delA|||||| 22 47054038 . C G . . ANN=G|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|2/17|c.284-46C>G|||||| 22 47054058 . T C . . ANN=C|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|2/17|c.284-26T>C|||||| 22 47057231 . G T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|3/17|c.405-47G>T|||||| 22 47058897 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|4/17|c.467-40C>T|||||| 22 47058903 . T G . . ANN=G|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|4/17|c.467-34T>G|||||| 22 47058918 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|4/17|c.467-19G>A|||||| 22 47058954 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|5/18|c.484C>T|p.Leu162Leu|523/4316|484/1737|162/578|| 22 47058973 . A G . . ANN=G|missense_variant|MODERATE|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|5/18|c.503A>G|p.Lys168Arg|542/4316|503/1737|168/578|| 22 47058992 . T C . . ANN=C|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|5/18|c.522T>C|p.Phe174Phe|561/4316|522/1737|174/578|| 22 47059001 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|5/18|c.531C>T|p.Tyr177Tyr|570/4316|531/1737|177/578|| 22 47059773 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|6/17|c.625+13G>A|||||| 22 47059939 . G A . . ANN=A|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|7/18|c.642G>A|p.Pro214Pro|681/4316|642/1737|214/578|| 22 47060025 . C A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|7/17|c.717+11C>A|||||| 22 47060037 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|7/17|c.717+23G>A|||||| 22 47061641 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|8/17|c.809+38C>T|||||| 22 47062801 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|9/17|c.858+31C>T|||||| 22 47063961 . A C . . ANN=C|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|9/17|c.859-32A>C|||||| 22 47063963 . T C . . ANN=C|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|9/17|c.859-30T>C|||||| 22 47064052 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|10/18|c.918C>T|p.Ala306Ala|957/4316|918/1737|306/578|| 22 47064075 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|10/17|c.930+11G>A|||||| 22 47064082 . GGCCAGGGGTGTGTCTGCGCCAGCCATGGGCACCA G . . ANN=G|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|10/17|c.930+19_930+52delGCCAGGGGTGTGTCTGCGCCAGCCATGGGCACCA|||||| 22 47064617 . A T . . ANN=T|missense_variant|MODERATE|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|11/18|c.962A>T|p.Glu321Val|1001/4316|962/1737|321/578|| 22 47064665 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|11/17|c.975-31C>T|||||| 22 47064670 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|11/17|c.975-26G>A|||||| 22 47064678 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|11/17|c.975-18C>T|||||| 22 47064743 . C T . . ANN=T|missense_variant|MODERATE|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|12/18|c.1022C>T|p.Ala341Val|1061/4316|1022/1737|341/578|| 22 47064824 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|12/17|c.1084+19G>A|||||| 22 47064834 . T G . . ANN=G|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|12/17|c.1084+29T>G|||||| 22 47064837 . A C . . ANN=C|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|12/17|c.1084+32A>C|||||| 22 47064850 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|12/17|c.1084+45C>T|||||| 22 47068804 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|13/18|c.1149C>T|p.Arg383Arg|1188/4316|1149/1737|383/578|| 22 47068822 . C G . . ANN=G|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|13/18|c.1167C>G|p.Pro389Pro|1206/4316|1167/1737|389/578|| 22 47068880 . G A . . ANN=A|missense_variant|MODERATE|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|13/18|c.1225G>A|p.Ala409Thr|1264/4316|1225/1737|409/578|| 22 47068882 . A G . . ANN=G|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|13/18|c.1227A>G|p.Ala409Ala|1266/4316|1227/1737|409/578|| 22 47068929 . TG T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|13/17|c.1239+36delG|||||| 22 47068935 . G T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|13/17|c.1239+41G>T|||||| 22 47069525 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|13/17|c.1240-42G>A|||||| 22 47069563 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|13/17|c.1240-4G>A|||||| 22 47069581 . G A . . ANN=A|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|14/18|c.1254G>A|p.Ser418Ser|1293/4316|1254/1737|418/578|| 22 47069671 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|14/18|c.1344C>T|p.His448His|1383/4316|1344/1737|448/578|| 22 47069700 . G A . . ANN=A|missense_variant|MODERATE|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|14/18|c.1373G>A|p.Arg458His|1412/4316|1373/1737|458/578|| 22 47070550 . T A . . ANN=A|splice_region_variant&intron_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|14/17|c.1385-4T>A|||||| 22 47070558 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|15/18|c.1389C>T|p.Cys463Cys|1428/4316|1389/1737|463/578|| 22 47070642 . G A . . ANN=A|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|15/18|c.1473G>A|p.Thr491Thr|1512/4316|1473/1737|491/578|| 22 47070683 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|15/17|c.1478+36G>A|||||| 22 47071341 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|15/17|c.1479-24C>T|||||| 22 47071467 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|16/17|c.1563+18C>T|||||| 22 47071470 . C T . . ANN=T|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|16/17|c.1563+21C>T|||||| 22 47072477 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|16/17|c.1564-20G>A|||||| 22 47072996 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|17/17|c.1633-48G>A|||||| 22 47073022 . G A . . ANN=A|intron_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|17/17|c.1633-22G>A|||||| 22 47073142 . C T . . ANN=T|synonymous_variant|LOW|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|18/18|c.1731C>T|p.Asp577Asp|1770/4316|1731/1737|577/578|| 22 47073176 . A ATTTTCT . . ANN=CTTTTT|3_prime_UTR_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|18/18|c.*51_*56dupCTTTTT|||||57|INFO_REALIGN_3_PRIME 22 47073183 . T TTTTCTA . . ANN=ATTTCT|3_prime_UTR_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|18/18|c.*40_*41insATTTCT|||||41|INFO_REALIGN_3_PRIME 22 47073198 . TC T . . ANN=T|3_prime_UTR_variant|MODIFIER|GRAMD4|GRAMD4|transcript|NM_015124.3|Coding|18/18|c.*51delC|||||51| 22 47083010 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|13/13|c.*21A>G|||||21| 22 47083012 . T A . . ANN=A|3_prime_UTR_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|13/13|c.*19A>T|||||19| 22 47083016 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|13/13|c.*15G>T|||||15| 22 47083052 . C T . . ANN=T|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|13/13|c.1593G>A|p.Pro531Pro|1700/4445|1593/1614|531/537|| 22 47083136 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|12/12|c.1542-33G>A|||||| 22 47083137 . G A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|12/12|c.1542-34C>T|||||| 22 47085859 . C G . . ANN=G|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|12/12|c.1541+30G>C|||||| 22 47085860 . G A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|12/12|c.1541+29C>T|||||| 22 47085903 . A T . . ANN=T|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|12/13|c.1527T>A|p.Pro509Pro|1634/4445|1527/1614|509/537|| 22 47085924 . G A . . ANN=A|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|12/13|c.1506C>T|p.Asp502Asp|1613/4445|1506/1614|502/537|| 22 47085983 . T C . . ANN=C|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|12/13|c.1447A>G|p.Ile483Val|1554/4445|1447/1614|483/537|| 22 47086007 . C A,G,T . . ANN=A|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|12/13|c.1423G>T|p.Gly475Trp|1530/4445|1423/1614|475/537||,G|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|12/13|c.1423G>C|p.Gly475Arg|1530/4445|1423/1614|475/537||,T|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|12/13|c.1423G>A|p.Gly475Arg|1530/4445|1423/1614|475/537|| 22 47086016 . G A . . ANN=A|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|12/13|c.1414C>T|p.Leu472Phe|1521/4445|1414/1614|472/537|| 22 47086048 . G A . . ANN=A|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|12/13|c.1382C>T|p.Thr461Met|1489/4445|1382/1614|461/537|| 22 47087432 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|11/12|c.1332+37G>A|||||| 22 47087460 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|11/12|c.1332+9G>A|||||| 22 47087541 . G T . . ANN=T|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|11/13|c.1260C>A|p.Leu420Leu|1367/4445|1260/1614|420/537|| 22 47087670 . G A . . ANN=A|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|11/13|c.1131C>T|p.Asp377Asp|1238/4445|1131/1614|377/537|| 22 47089274 . G A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|10/12|c.1126+50C>T|||||| 22 47089409 . C A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|9/12|c.1050-9G>T|||||| 22 47089439 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|9/12|c.1050-39G>A|||||| 22 47089445 . G A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|9/12|c.1050-45C>T|||||| 22 47091092 . A G . . ANN=G|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|9/12|c.1049+15T>C|||||| 22 47091113 . C T . . ANN=T|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|9/13|c.1043G>A|p.Arg348Gln|1150/4445|1043/1614|348/537|| 22 47091231 . G A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|8/12|c.944-19C>T|||||| 22 47091258 . G T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|8/12|c.944-46C>A|||||| 22 47095172 . C G . . ANN=G|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|8/12|c.943+38G>C|||||| 22 47095186 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|8/12|c.943+24G>A|||||| 22 47095214 . A G . . ANN=G|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|8/13|c.939T>C|p.Phe313Phe|1046/4445|939/1614|313/537|| 22 47095235 . C A . . ANN=A|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|8/13|c.918G>T|p.Leu306Phe|1025/4445|918/1614|306/537|| 22 47095300 . C T . . ANN=T|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|8/13|c.853G>A|p.Val285Met|960/4445|853/1614|285/537|| 22 47095373 . G C . . ANN=C|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|7/12|c.791-11C>G|||||| 22 47095376 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|7/12|c.791-14G>A|||||| 22 47095381 . G A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|7/12|c.791-19C>T|||||| 22 47095409 . C G . . ANN=G|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|7/12|c.791-47G>C|||||| 22 47097496 . G A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|7/12|c.790+37C>T|||||| 22 47097505 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|7/12|c.790+28G>A|||||| 22 47097650 . A T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|6/12|c.716-43T>A|||||| 22 47103729 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|6/12|c.715+11G>A|||||| 22 47103743 . C A . . ANN=A|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|6/13|c.712G>T|p.Ala238Ser|819/4445|712/1614|238/537|| 22 47103744 . G A . . ANN=A|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|6/13|c.711C>T|p.Pro237Pro|818/4445|711/1614|237/537|| 22 47103810 . G A . . ANN=A|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|6/13|c.645C>T|p.Ala215Ala|752/4445|645/1614|215/537|| 22 47103823 . G A . . ANN=A|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|6/13|c.632C>T|p.Thr211Met|739/4445|632/1614|211/537|| 22 47103840 . G A . . ANN=A|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|6/13|c.615C>T|p.His205His|722/4445|615/1614|205/537|| 22 47103884 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|6/13|c.571A>G|p.Ile191Val|678/4445|571/1614|191/537|| 22 47103905 . G A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|5/12|c.570-20C>T|||||| 22 47106968 . A G . . ANN=G|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|5/12|c.569+15T>C|||||| 22 47106996 . C G . . ANN=G|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|5/13|c.556G>C|p.Asp186His|663/4445|556/1614|186/537|| 22 47108031 . C G . . ANN=G|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|4/12|c.505+34G>C|||||| 22 47108084 . G A . . ANN=A|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|4/13|c.486C>T|p.Ser162Ser|593/4445|486/1614|162/537|| 22 47108189 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|4/13|c.381G>A|p.Thr127Thr|488/4445|381/1614|127/537|| 22 47108199 . C A . . ANN=A|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|3/12|c.380-9G>T|||||| 22 47108219 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|3/12|c.380-29G>A|||||| 22 47116023 . G A . . ANN=A|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|3/13|c.339C>T|p.His113His|446/4445|339/1614|113/537|| 22 47116041 . T C . . ANN=C|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|3/13|c.321A>G|p.Pro107Pro|428/4445|321/1614|107/537|| 22 47116075 . C T . . ANN=T|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|3/13|c.287G>A|p.Arg96His|394/4445|287/1614|96/537|| 22 47116076 . G A . . ANN=A|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|3/13|c.286C>T|p.Arg96Cys|393/4445|286/1614|96/537|| 22 47116108 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|2/12|c.257-3C>A|||||| 22 47116793 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|2/12|c.256+6A>G|||||| 22 47116905 . G A . . ANN=A|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|2/13|c.150C>T|p.Cys50Cys|257/4445|150/1614|50/537|| 22 47116947 . C T . . ANN=T|intron_variant|MODIFIER|CERK|CERK|transcript|NM_022766.5|Coding|1/12|c.143-35G>A|||||| 22 47133984 . C T . . ANN=T|missense_variant|MODERATE|CERK|CERK|transcript|NM_022766.5|Coding|1/13|c.62G>A|p.Cys21Tyr|169/4445|62/1614|21/537|| 22 47134013 . T C . . ANN=C|synonymous_variant|LOW|CERK|CERK|transcript|NM_022766.5|Coding|1/13|c.33A>G|p.Gln11Gln|140/4445|33/1614|11/537|| 22 47158793 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|1/12|c.62+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|1/10|c.62+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|1/13|c.-166+48G>A|||||| 22 47188369 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|1/12|c.63-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|1/10|c.63-1029G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|1/13|c.-165-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|2/13|n.676-48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|1/12|c.-79-48G>A|||||| 22 47188499 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|2/12|c.119+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|1/10|c.63-899G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|2/13|c.-109+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|3/13|n.732+26G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|2/12|c.-23+26G>A|||||| 22 47189509 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.231C>T|p.Asp77Asp|401/3797|231/1554|77/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.174C>T|p.Asp58Asp|344/3563|174/1320|58/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.141C>T|p.Asp47Asp|538/3934|141/1464|47/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.90C>T|p.Asp30Asp|478/3874|90/1413|30/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.844C>T|||||| 22 47189533 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.255G>A|p.Ala85Ala|425/3797|255/1554|85/517||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.198G>A|p.Ala66Ala|368/3563|198/1320|66/439||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.165G>A|p.Ala55Ala|562/3934|165/1464|55/487||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.114G>A|p.Ala38Ala|502/3874|114/1413|38/470||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.868G>A|||||| 22 47189536 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.258G>A|p.Ala86Ala|428/3797|258/1554|86/517||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.201G>A|p.Ala67Ala|371/3563|201/1320|67/439||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.168G>A|p.Ala56Ala|565/3934|168/1464|56/487||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.117G>A|p.Ala39Ala|505/3874|117/1413|39/470||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.871G>A|||||| 22 47189551 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.273C>T|p.Ser91Ser|443/3797|273/1554|91/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.216C>T|p.Ser72Ser|386/3563|216/1320|72/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.183C>T|p.Ser61Ser|580/3934|183/1464|61/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.132C>T|p.Ser44Ser|520/3874|132/1413|44/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.886C>T|||||| 22 47189552 . G A . . ANN=A|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.274G>A|p.Glu92Lys|444/3797|274/1554|92/517||,A|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.217G>A|p.Glu73Lys|387/3563|217/1320|73/439||,A|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.184G>A|p.Glu62Lys|581/3934|184/1464|62/487||,A|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.133G>A|p.Glu45Lys|521/3874|133/1413|45/470||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.887G>A|||||| 22 47189569 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.291G>A|p.Thr97Thr|461/3797|291/1554|97/517||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.234G>A|p.Thr78Thr|404/3563|234/1320|78/439||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.201G>A|p.Thr67Thr|598/3934|201/1464|67/487||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.150G>A|p.Thr50Thr|538/3874|150/1413|50/470||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.904G>A|||||| 22 47189616 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.338C>T|p.Thr113Met|508/3797|338/1554|113/517||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.281C>T|p.Thr94Met|451/3563|281/1320|94/439||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.248C>T|p.Thr83Met|645/3934|248/1464|83/487||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.197C>T|p.Thr66Met|585/3874|197/1413|66/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.951C>T|||||| 22 47189630 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.352C>T|p.Pro118Ser|522/3797|352/1554|118/517||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.295C>T|p.Pro99Ser|465/3563|295/1320|99/439||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.262C>T|p.Pro88Ser|659/3934|262/1464|88/487||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.211C>T|p.Pro71Ser|599/3874|211/1413|71/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.965C>T|||||| 22 47189678 . C G . . ANN=G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.400C>G|p.Pro134Ala|570/3797|400/1554|134/517||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.343C>G|p.Pro115Ala|513/3563|343/1320|115/439||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.310C>G|p.Pro104Ala|707/3934|310/1464|104/487||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.259C>G|p.Pro87Ala|647/3874|259/1413|87/470||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.1013C>G|||||| 22 47189679 . C G . . ANN=G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.401C>G|p.Pro134Arg|571/3797|401/1554|134/517||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.344C>G|p.Pro115Arg|514/3563|344/1320|115/439||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.311C>G|p.Pro104Arg|708/3934|311/1464|104/487||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.260C>G|p.Pro87Arg|648/3874|260/1413|87/470||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.1014C>G|||||| 22 47189686 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/13|c.408C>T|p.Gly136Gly|578/3797|408/1554|136/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/11|c.351C>T|p.Gly117Gly|521/3563|351/1320|117/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/14|c.318C>T|p.Gly106Gly|715/3934|318/1464|106/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/13|c.267C>T|p.Gly89Gly|655/3874|267/1413|89/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/14|n.1021C>T|||||| 22 47189747 . G C . . ANN=C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/12|c.460+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/10|c.403+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/13|c.370+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/13|n.1073+9G>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/12|c.319+9G>C|||||| 22 47193295 . C T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|3/12|c.461-46C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/10|c.403+3557C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|4/13|c.371-46C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|4/13|n.1074-46C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|3/12|c.320-46C>T|||||| 22 47193392 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|4/13|c.512C>T|p.Ser171Leu|682/3797|512/1554|171/517||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|5/14|c.422C>T|p.Ser141Leu|819/3934|422/1464|141/487||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|4/13|c.371C>T|p.Ser124Leu|759/3874|371/1413|124/470||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/10|c.403+3654C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|5/14|n.1125C>T|||||| 22 47193393 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|4/13|c.513G>A|p.Ser171Ser|683/3797|513/1554|171/517||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|5/14|c.423G>A|p.Ser141Ser|820/3934|423/1464|141/487||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|4/13|c.372G>A|p.Ser124Ser|760/3874|372/1413|124/470||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/10|c.403+3655G>A||||||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|5/14|n.1126G>A|||||| 22 47193404 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|4/13|c.524C>T|p.Thr175Met|694/3797|524/1554|175/517||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|5/14|c.434C>T|p.Thr145Met|831/3934|434/1464|145/487||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|4/13|c.383C>T|p.Thr128Met|771/3874|383/1413|128/470||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|2/10|c.403+3666C>T||||||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|5/14|n.1137C>T|||||| 22 47274631 . C T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|5/12|c.708+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|3/10|c.474+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|6/13|c.618+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|6/13|n.1321+12C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|5/12|c.567+12C>T|||||| 22 47274638 . C T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|5/12|c.708+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|3/10|c.474+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|6/13|c.618+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|6/13|n.1321+19C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|5/12|c.567+19C>T|||||| 22 47274647 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|5/12|c.708+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|3/10|c.474+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|6/13|c.618+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|6/13|n.1321+28G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|5/12|c.567+28G>A|||||| 22 47287126 . A G . . ANN=G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|5/12|c.709-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|3/10|c.475-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|6/13|c.619-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|6/13|n.1322-36A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|5/12|c.568-36A>G|||||| 22 47287129 . A G . . ANN=G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|5/12|c.709-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|3/10|c.475-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|6/13|c.619-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|6/13|n.1322-33A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|5/12|c.568-33A>G|||||| 22 47287174 . G A . . ANN=A|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|6/13|c.721G>A|p.Ala241Thr|891/3797|721/1554|241/517||,A|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|4/11|c.487G>A|p.Ala163Thr|657/3563|487/1320|163/439||,A|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|7/14|c.631G>A|p.Ala211Thr|1028/3934|631/1464|211/487||,A|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|6/13|c.580G>A|p.Ala194Thr|968/3874|580/1413|194/470||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|7/14|n.1334G>A|||||| 22 47287248 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|6/13|c.795C>T|p.Tyr265Tyr|965/3797|795/1554|265/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|4/11|c.561C>T|p.Tyr187Tyr|731/3563|561/1320|187/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|7/14|c.705C>T|p.Tyr235Tyr|1102/3934|705/1464|235/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|6/13|c.654C>T|p.Tyr218Tyr|1042/3874|654/1413|218/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|7/14|n.1408C>T|||||| 22 47287260 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|6/13|c.807C>T|p.Asn269Asn|977/3797|807/1554|269/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|4/11|c.573C>T|p.Asn191Asn|743/3563|573/1320|191/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|7/14|c.717C>T|p.Asn239Asn|1114/3934|717/1464|239/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|6/13|c.666C>T|p.Asn222Asn|1054/3874|666/1413|222/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|7/14|n.1420C>T|||||| 22 47287299 . C G . . ANN=G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|6/12|c.837+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|4/10|c.603+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|7/13|c.747+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|7/13|n.1450+9C>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|6/12|c.696+9C>G|||||| 22 47287310 . T A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|6/12|c.837+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|4/10|c.603+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|7/13|c.747+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|7/13|n.1450+20T>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|6/12|c.696+20T>A|||||| 22 47287311 . TC T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|6/12|c.837+22delC||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|4/10|c.603+22delC||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|7/13|c.747+22delC||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|7/13|n.1450+22delC||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|6/12|c.696+22delC|||||| 22 47287333 . T C . . ANN=C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|6/12|c.837+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|4/10|c.603+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|7/13|c.747+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|7/13|n.1450+43T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|6/12|c.696+43T>C|||||| 22 47307934 . A T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|7/12|c.901-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|5/10|c.667-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|8/13|c.811-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|8/13|n.1514-36A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|7/12|c.760-36A>T|||||| 22 47307949 . A T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|7/12|c.901-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|5/10|c.667-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|8/13|c.811-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|8/13|n.1514-21A>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|7/12|c.760-21A>T|||||| 22 47308023 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|8/13|c.954C>T|p.Tyr318Tyr|1124/3797|954/1554|318/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|6/11|c.720C>T|p.Tyr240Tyr|890/3563|720/1320|240/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|9/14|c.864C>T|p.Tyr288Tyr|1261/3934|864/1464|288/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|8/13|c.813C>T|p.Tyr271Tyr|1201/3874|813/1413|271/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|9/14|n.1567C>T|||||| 22 47370141 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|8/12|c.1016-45G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|6/10|c.782-45G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|9/13|c.926-45G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|10/13|n.1742-23389G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|8/12|c.875-45G>A|||||| 22 47370205 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|9/13|c.1035G>A|p.Thr345Thr|1205/3797|1035/1554|345/517||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|7/11|c.801G>A|p.Thr267Thr|971/3563|801/1320|267/439||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|10/14|c.945G>A|p.Thr315Thr|1342/3934|945/1464|315/487||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|9/13|c.894G>A|p.Thr298Thr|1282/3874|894/1413|298/470||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|10/13|n.1742-23325G>A|||||| 22 47370226 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|9/13|c.1056C>T|p.Pro352Pro|1226/3797|1056/1554|352/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|7/11|c.822C>T|p.Pro274Pro|992/3563|822/1320|274/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|10/14|c.966C>T|p.Pro322Pro|1363/3934|966/1464|322/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|9/13|c.915C>T|p.Pro305Pro|1303/3874|915/1413|305/470||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|10/13|n.1742-23304C>T|||||| 22 47370306 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|9/12|c.1125+11G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|7/10|c.891+11G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|10/13|c.1035+11G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|10/13|n.1742-23224G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|9/12|c.984+11G>A|||||| 22 47370308 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|9/12|c.1125+13G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|7/10|c.891+13G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|10/13|c.1035+13G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|10/13|n.1742-23222G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|9/12|c.984+13G>A|||||| 22 47370336 . C T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|9/12|c.1125+41C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|7/10|c.891+41C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|10/13|c.1035+41C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|10/13|n.1742-23194C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|9/12|c.984+41C>T|||||| 22 47370343 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|9/12|c.1125+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|7/10|c.891+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|10/13|c.1035+48G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|10/13|n.1742-23187G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|9/12|c.984+48G>A|||||| 22 47393493 . T C . . ANN=C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|9/12|c.1126-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|7/10|c.892-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|10/13|c.1036-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|10/13|n.1742-37T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|9/12|c.985-37T>C|||||| 22 47393623 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|10/12|c.1201+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|8/10|c.967+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|11/13|c.1111+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|11/13|n.1817+18G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|10/12|c.1060+18G>A|||||| 22 47393643 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|10/12|c.1201+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|8/10|c.967+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|11/13|c.1111+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|11/13|n.1817+38G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|10/12|c.1060+38G>A|||||| 22 47432923 . A G . . ANN=G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|10/12|c.1202-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|8/10|c.968-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|11/13|c.1112-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|11/13|n.1818-44A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|10/12|c.1061-44A>G|||||| 22 47432980 . G A . . ANN=A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/13|c.1215G>A|p.Arg405Arg|1385/3797|1215/1554|405/517||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/11|c.981G>A|p.Arg327Arg|1151/3563|981/1320|327/439||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/14|c.1125G>A|p.Arg375Arg|1522/3934|1125/1464|375/487||,A|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/13|c.1074G>A|p.Arg358Arg|1462/3874|1074/1413|358/470||,A|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/14|n.1831G>A|||||| 22 47432995 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/13|c.1230C>T|p.His410His|1400/3797|1230/1554|410/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/11|c.996C>T|p.His332His|1166/3563|996/1320|332/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/14|c.1140C>T|p.His380His|1537/3934|1140/1464|380/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/13|c.1089C>T|p.His363His|1477/3874|1089/1413|363/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/14|n.1846C>T|||||| 22 47433018 . C G . . ANN=G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/13|c.1253C>G|p.Ala418Gly|1423/3797|1253/1554|418/517||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/11|c.1019C>G|p.Ala340Gly|1189/3563|1019/1320|340/439||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/14|c.1163C>G|p.Ala388Gly|1560/3934|1163/1464|388/487||,G|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/13|c.1112C>G|p.Ala371Gly|1500/3874|1112/1413|371/470||,G|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/14|n.1869C>G|||||| 22 47433034 . C T . . ANN=T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/13|c.1269C>T|p.Asn423Asn|1439/3797|1269/1554|423/517||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/11|c.1035C>T|p.Asn345Asn|1205/3563|1035/1320|345/439||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/14|c.1179C>T|p.Asn393Asn|1576/3934|1179/1464|393/487||,T|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/13|c.1128C>T|p.Asn376Asn|1516/3874|1128/1413|376/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/14|n.1885C>T|||||| 22 47433062 . C T . . ANN=T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/13|c.1297C>T|p.Arg433Cys|1467/3797|1297/1554|433/517||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/11|c.1063C>T|p.Arg355Cys|1233/3563|1063/1320|355/439||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/14|c.1207C>T|p.Arg403Cys|1604/3934|1207/1464|403/487||,T|missense_variant|MODERATE|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/13|c.1156C>T|p.Arg386Cys|1544/3874|1156/1413|386/470||,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/14|n.1913C>T|||||| 22 47433116 . C T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/12|c.1329+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/10|c.1095+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/13|c.1239+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/13|n.1945+22C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/12|c.1188+22C>T|||||| 22 47433122 . T C . . ANN=C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/12|c.1329+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/10|c.1095+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/13|c.1239+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/13|n.1945+28T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/12|c.1188+28T>C|||||| 22 47433140 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/12|c.1329+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/10|c.1095+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/13|c.1239+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/13|n.1945+46G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/12|c.1188+46G>A|||||| 22 47507365 . G A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|11/12|c.1330-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|9/10|c.1096-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|12/13|c.1240-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|12/13|n.1946-39G>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|11/12|c.1189-39G>A|||||| 22 47507512 . C A . . ANN=A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|12/12|c.1425+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|10/10|c.1191+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|13/13|c.1335+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|13/13|n.2041+13C>A||||||,A|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|12/12|c.1284+13C>A|||||| 22 47507519 . A G . . ANN=G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|12/12|c.1425+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|10/10|c.1191+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|13/13|c.1335+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|13/13|n.2041+20A>G||||||,G|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|12/12|c.1284+20A>G|||||| 22 47569097 . C T . . ANN=T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|12/12|c.1426-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|10/10|c.1192-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|13/13|c.1336-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|13/13|n.2042-44C>T||||||,T|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|12/12|c.1285-44C>T|||||| 22 47569123 . T C . . ANN=C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|12/12|c.1426-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|10/10|c.1192-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|13/13|c.1336-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|13/13|n.2042-18T>C||||||,C|intron_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|12/12|c.1285-18T>C|||||| 22 47569209 . G C . . ANN=C|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|13/13|c.1494G>C|p.Leu498Leu|1664/3797|1494/1554|498/517||,C|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|11/11|c.1260G>C|p.Leu420Leu|1430/3563|1260/1320|420/439||,C|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|14/14|c.1404G>C|p.Leu468Leu|1801/3934|1404/1464|468/487||,C|synonymous_variant|LOW|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|13/13|c.1353G>C|p.Leu451Leu|1741/3874|1353/1413|451/470||,C|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|14/14|n.2110G>C|||||| 22 47569278 . C A . . ANN=A|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|13/13|c.*9C>A|||||9|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|11/11|c.*9C>A|||||9|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|14/14|c.*9C>A|||||9|,A|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|13/13|c.*9C>A|||||9|,A|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|14/14|n.2179C>A|||||| 22 47569292 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|13/13|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|11/11|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|14/14|c.*23C>T|||||23|,T|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|13/13|c.*23C>T|||||23|,T|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|14/14|n.2193C>T|||||| 22 47569300 . TC T . . ANN=|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|13/13|c.*34delC|||||34|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|11/11|c.*34delC|||||34|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|14/14|c.*34delC|||||34|INFO_REALIGN_3_PRIME,|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|13/13|c.*34delC|||||34|INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|14/14|n.2204delC||||||INFO_REALIGN_3_PRIME 22 47569308 . G C . . ANN=C|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_014346.3|Coding|13/13|c.*39G>C|||||39|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284303.1|Coding|11/11|c.*39G>C|||||39|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284304.1|Coding|14/14|c.*39G>C|||||39|,C|3_prime_UTR_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NM_001284305.1|Coding|13/13|c.*39G>C|||||39|,C|non_coding_exon_variant|MODIFIER|TBC1D22A|TBC1D22A|transcript|NR_104292.1|Noncoding|14/14|n.2209G>C|||||| 22 48972321 . T C . . ANN=C|missense_variant|MODERATE|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|1/4|c.29T>C|p.Leu10Pro|204/2641|29/378|10/125||,C|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|1/3|c.113-70088T>C|||||| 22 48972352 . C T . . ANN=T|synonymous_variant|LOW|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|1/4|c.60C>T|p.Val20Val|235/2641|60/378|20/125||,T|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|1/3|c.113-70057C>T|||||| 22 49042380 . C T . . ANN=T|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|1/3|c.113-29C>T||||||,T|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|1/3|c.92-29C>T|||||| 22 49042476 . G A . . ANN=A|synonymous_variant|LOW|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|2/4|c.180G>A|p.Thr60Thr|313/2620|180/399|60/132||,A|synonymous_variant|LOW|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|2/4|c.159G>A|p.Thr53Thr|334/2641|159/378|53/125|| 22 49042491 . C T . . ANN=T|synonymous_variant|LOW|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|2/4|c.195C>T|p.Thr65Thr|328/2620|195/399|65/132||,T|synonymous_variant|LOW|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|2/4|c.174C>T|p.Thr58Thr|349/2641|174/378|58/125|| 22 49103499 . C T . . ANN=T|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|2/3|c.263-30C>T||||||,T|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|2/3|c.242-30C>T|||||| 22 49103591 . G A . . ANN=A|missense_variant|MODERATE|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|3/4|c.325G>A|p.Asp109Asn|458/2620|325/399|109/132||,A|missense_variant|MODERATE|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|3/4|c.304G>A|p.Asp102Asn|479/2641|304/378|102/125|| 22 49103626 . G T . . ANN=T|synonymous_variant|LOW|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|3/4|c.360G>T|p.Thr120Thr|493/2620|360/399|120/132||,T|synonymous_variant|LOW|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|3/4|c.339G>T|p.Thr113Thr|514/2641|339/378|113/125|| 22 49103628 . A G . . ANN=G|missense_variant|MODERATE|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|3/4|c.362A>G|p.Gln121Arg|495/2620|362/399|121/132||,G|missense_variant|MODERATE|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|3/4|c.341A>G|p.Gln114Arg|516/2641|341/378|114/125|| 22 49103660 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|3/3|c.390+4T>C||||||,C|splice_region_variant&intron_variant|LOW|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|3/3|c.369+4T>C|||||| 22 49103669 . C T . . ANN=T|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|3/3|c.390+13C>T||||||,T|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|3/3|c.369+13C>T|||||| 22 49103670 . G A . . ANN=A|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_001082967.2|Coding|3/3|c.390+14G>A||||||,A|intron_variant|MODIFIER|FAM19A5|FAM19A5|transcript|NM_015381.6|Coding|3/3|c.369+14G>A|||||| 22 50167902 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|12/12|c.3156C>T|p.Ser1052Ser|3643/4608|3156/3177|1052/1058|| 22 50167923 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|12/12|c.3135C>T|p.Arg1045Arg|3622/4608|3135/3177|1045/1058|| 22 50167960 . C T . . ANN=T|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|12/12|c.3098G>A|p.Arg1033Gln|3585/4608|3098/3177|1033/1058|| 22 50168042 . T C . . ANN=C|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|12/12|c.3016A>G|p.Met1006Val|3503/4608|3016/3177|1006/1058|| 22 50169205 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|11/11|c.2993+34C>T|||||| 22 50169211 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|11/11|c.2993+28G>A|||||| 22 50169313 . C G . . ANN=G|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|11/12|c.2919G>C|p.Lys973Asn|3406/4608|2919/3177|973/1058|| 22 50169346 . G C . . ANN=C|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|11/12|c.2886C>G|p.Val962Val|3373/4608|2886/3177|962/1058|| 22 50169399 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|10/11|c.2839-6G>A|||||| 22 50169410 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|10/11|c.2839-17G>A|||||| 22 50169421 . T C . . ANN=C|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|10/11|c.2839-28A>G|||||| 22 50169676 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|10/11|c.2838+22C>T|||||| 22 50169682 . C G . . ANN=G|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|10/11|c.2838+16G>C|||||| 22 50169683 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|10/11|c.2838+15C>T|||||| 22 50169691 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|10/11|c.2838+7A>G|||||| 22 50169714 . G A . . ANN=A|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|10/12|c.2822C>T|p.Pro941Leu|3309/4608|2822/3177|941/1058|| 22 50169722 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|10/12|c.2814C>T|p.Ser938Ser|3301/4608|2814/3177|938/1058|| 22 50169770 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|10/12|c.2766C>T|p.Ala922Ala|3253/4608|2766/3177|922/1058|| 22 50169851 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|9/11|c.2729-44G>A|||||| 22 50169852 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|9/11|c.2729-45C>T|||||| 22 50170633 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|9/11|c.2728+49C>T|||||| 22 50170674 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|9/11|c.2728+8G>A|||||| 22 50170743 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|9/12|c.2667C>T|p.Arg889Arg|3154/4608|2667/3177|889/1058|| 22 50170846 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|8/11|c.2601-37G>A|||||| 22 50171276 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|8/11|c.2600+50C>T|||||| 22 50171451 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|8/12|c.2475C>T|p.Asn825Asn|2962/4608|2475/3177|825/1058|| 22 50171474 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|7/11|c.2465-13G>A|||||| 22 50181005 . AG A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|7/11|c.2464+32delC|||||| 22 50181022 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|7/11|c.2464+16G>A|||||| 22 50181023 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|7/11|c.2464+15C>T|||||| 22 50187644 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|6/11|c.2359+38C>T|||||| 22 50187646 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|6/11|c.2359+36G>A|||||| 22 50187708 . G A . . ANN=A|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|6/12|c.2333C>T|p.Ala778Val|2820/4608|2333/3177|778/1058|| 22 50187715 . C T . . ANN=T|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|6/12|c.2326G>A|p.Gly776Arg|2813/4608|2326/3177|776/1058|| 22 50187793 . G A . . ANN=A|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|6/12|c.2248C>T|p.Leu750Phe|2735/4608|2248/3177|750/1058|| 22 50187853 . C T . . ANN=T|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|6/12|c.2188G>A|p.Ala730Thr|2675/4608|2188/3177|730/1058|| 22 50191438 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|5/11|c.2098+15C>T|||||| 22 50191441 . G A . . ANN=A|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|5/11|c.2098+12C>T|||||| 22 50191454 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|5/12|c.2097C>T|p.Asp699Asp|2584/4608|2097/3177|699/1058|| 22 50191479 . G A . . ANN=A|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|5/12|c.2072C>T|p.Pro691Leu|2559/4608|2072/3177|691/1058|| 22 50191485 . G A . . ANN=A|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|5/12|c.2066C>T|p.Ala689Val|2553/4608|2066/3177|689/1058|| 22 50191532 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|5/12|c.2019C>T|p.Ile673Ile|2506/4608|2019/3177|673/1058|| 22 50191810 . A G . . ANN=G|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|4/11|c.1786-45T>C|||||| 22 50192171 . A G . . ANN=G|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|4/11|c.1785+35T>C|||||| 22 50192174 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|4/11|c.1785+32G>A|||||| 22 50192228 . G A . . ANN=A|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|4/12|c.1763C>T|p.Ala588Val|2250/4608|1763/3177|588/1058|| 22 50192334 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|4/12|c.1657G>A|p.Val553Met|2144/4608|1657/3177|553/1058|| 22 50192616 . C T . . ANN=T|intron_variant|MODIFIER|BRD1|BRD1|transcript|NM_014577.1|Coding|3/11|c.1656+20G>A|||||| 22 50197912 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|2/12|c.1464C>T|p.Asn488Asn|1951/4608|1464/3177|488/1058|| 22 50216625 . C A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1341G>T|p.Val447Val|1828/4608|1341/3177|447/1058|| 22 50216725 . T C . . ANN=C|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1241A>G|p.Glu414Gly|1728/4608|1241/3177|414/1058|| 22 50216739 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1227C>T|p.Gly409Gly|1714/4608|1227/3177|409/1058|| 22 50216754 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1212C>T|p.Val404Val|1699/4608|1212/3177|404/1058|| 22 50216758 . T C . . ANN=C|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1208A>G|p.Asp403Gly|1695/4608|1208/3177|403/1058|| 22 50216763 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1203C>T|p.Tyr401Tyr|1690/4608|1203/3177|401/1058|| 22 50216799 . C T . . ANN=T|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1167G>A|p.Thr389Thr|1654/4608|1167/3177|389/1058|| 22 50216932 . T C . . ANN=C|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1034A>G|p.Asn345Ser|1521/4608|1034/3177|345/1058|| 22 50216964 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.1002C>T|p.Gly334Gly|1489/4608|1002/3177|334/1058|| 22 50216988 . T C . . ANN=C|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.978A>G|p.Thr326Thr|1465/4608|978/3177|326/1058|| 22 50217033 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.933C>T|p.Pro311Pro|1420/4608|933/3177|311/1058|| 22 50217174 . C G . . ANN=G|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.792G>C|p.Ser264Ser|1279/4608|792/3177|264/1058|| 22 50217279 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.687C>T|p.Asn229Asn|1174/4608|687/3177|229/1058|| 22 50217321 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.645C>T|p.Ala215Ala|1132/4608|645/3177|215/1058|| 22 50217387 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.579C>T|p.Phe193Phe|1066/4608|579/3177|193/1058|| 22 50217429 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.537C>T|p.Pro179Pro|1024/4608|537/3177|179/1058|| 22 50217435 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.531C>T|p.Cys177Cys|1018/4608|531/3177|177/1058|| 22 50217633 . C T . . ANN=T|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.333G>A|p.Pro111Pro|820/4608|333/3177|111/1058|| 22 50217649 . C G . . ANN=G|missense_variant|MODERATE|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.317G>C|p.Ser106Thr|804/4608|317/3177|106/1058|| 22 50217867 . G A . . ANN=A|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.99C>T|p.Tyr33Tyr|586/4608|99/3177|33/1058|| 22 50217903 . A G . . ANN=G|synonymous_variant|LOW|BRD1|BRD1|transcript|NM_014577.1|Coding|1/12|c.63T>C|p.Ser21Ser|550/4608|63/3177|21/1058|| 22 50277333 . G T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.23G>T|p.Cys8Phe|493/6886|23/3516|8/1171|| 22 50277346 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.36C>T|p.Asp12Asp|506/6886|36/3516|12/1171|| 22 50277352 . T G . . ANN=G|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.42T>G|p.Asp14Glu|512/6886|42/3516|14/1171|| 22 50277410 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.100C>T|p.Pro34Ser|570/6886|100/3516|34/1171|| 22 50277469 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.159C>T|p.Asp53Asp|629/6886|159/3516|53/1171|| 22 50277475 . T G . . ANN=G|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.165T>G|p.Gly55Gly|635/6886|165/3516|55/1171|| 22 50277485 . G C . . ANN=C|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.175G>C|p.Ala59Pro|645/6886|175/3516|59/1171|| 22 50277487 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.177G>A|p.Ala59Ala|647/6886|177/3516|59/1171|| 22 50277494 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.184G>A|p.Gly62Ser|654/6886|184/3516|62/1171|| 22 50277501 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.191C>T|p.Thr64Met|661/6886|191/3516|64/1171|| 22 50277523 . G T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.213G>T|p.Pro71Pro|683/6886|213/3516|71/1171|| 22 50277614 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.304G>A|p.Val102Met|774/6886|304/3516|102/1171|| 22 50277639 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.329G>A|p.Arg110Gln|799/6886|329/3516|110/1171|| 22 50277754 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.444C>T|p.Asn148Asn|914/6886|444/3516|148/1171|| 22 50277835 . T C . . ANN=C|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.525T>C|p.Ser175Ser|995/6886|525/3516|175/1171|| 22 50277883 . A G . . ANN=G|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.573A>G|p.Pro191Pro|1043/6886|573/3516|191/1171|| 22 50277898 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.588G>A|p.Ala196Ala|1058/6886|588/3516|196/1171|| 22 50277977 . A G . . ANN=G|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.667A>G|p.Thr223Ala|1137/6886|667/3516|223/1171|| 22 50278026 . T C . . ANN=C|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.716T>C|p.Met239Thr|1186/6886|716/3516|239/1171|| 22 50278218 . A G . . ANN=G|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.908A>G|p.Lys303Arg|1378/6886|908/3516|303/1171|| 22 50278348 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1038G>A|p.Thr346Thr|1508/6886|1038/3516|346/1171|| 22 50278356 . C G . . ANN=G|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1046C>G|p.Pro349Arg|1516/6886|1046/3516|349/1171|| 22 50278404 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1094C>T|p.Pro365Leu|1564/6886|1094/3516|365/1171|| 22 50278438 . A G . . ANN=G|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1128A>G|p.Pro376Pro|1598/6886|1128/3516|376/1171|| 22 50278446 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1136C>T|p.Pro379Leu|1606/6886|1136/3516|379/1171|| 22 50278455 . A T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1145A>T|p.Glu382Val|1615/6886|1145/3516|382/1171|| 22 50278510 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1200C>T|p.His400His|1670/6886|1200/3516|400/1171|| 22 50278541 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1231G>A|p.Val411Met|1701/6886|1231/3516|411/1171|| 22 50278568 . A G . . ANN=G|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1258A>G|p.Ile420Val|1728/6886|1258/3516|420/1171|| 22 50278584 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1274C>T|p.Ala425Val|1744/6886|1274/3516|425/1171|| 22 50278588 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1278C>T|p.Ser426Ser|1748/6886|1278/3516|426/1171|| 22 50278642 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1332C>T|p.Gly444Gly|1802/6886|1332/3516|444/1171|| 22 50278745 . T C . . ANN=C|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1435T>C|p.Tyr479His|1905/6886|1435/3516|479/1171|| 22 50278810 . T C . . ANN=C|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1500T>C|p.His500His|1970/6886|1500/3516|500/1171|| 22 50278879 . T C . . ANN=C|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1569T>C|p.Ser523Ser|2039/6886|1569/3516|523/1171|| 22 50278936 . A G . . ANN=G|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1626A>G|p.Pro542Pro|2096/6886|1626/3516|542/1171|| 22 50278939 . A C . . ANN=C|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1629A>C|p.Thr543Thr|2099/6886|1629/3516|543/1171|| 22 50278947 . C G . . ANN=G|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1637C>G|p.Thr546Arg|2107/6886|1637/3516|546/1171|| 22 50278956 . A G . . ANN=G|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1646A>G|p.Asn549Ser|2116/6886|1646/3516|549/1171|| 22 50278971 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1661C>T|p.Pro554Leu|2131/6886|1661/3516|554/1171|| 22 50279035 . A G . . ANN=G|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1725A>G|p.Thr575Thr|2195/6886|1725/3516|575/1171|| 22 50279061 . G A . . ANN=A|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1751G>A|p.Arg584Gln|2221/6886|1751/3516|584/1171|| 22 50279086 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1776G>A|p.Pro592Pro|2246/6886|1776/3516|592/1171|| 22 50279184 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1874C>T|p.Pro625Leu|2344/6886|1874/3516|625/1171|| 22 50279221 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.1911C>T|p.Gly637Gly|2381/6886|1911/3516|637/1171|| 22 50279389 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2079C>T|p.Ser693Ser|2549/6886|2079/3516|693/1171|| 22 50279610 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2300C>T|p.Ser767Leu|2770/6886|2300/3516|767/1171|| 22 50279615 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2305C>T|p.Leu769Leu|2775/6886|2305/3516|769/1171|| 22 50279628 . C T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2318C>T|p.Ser773Leu|2788/6886|2318/3516|773/1171|| 22 50279641 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2331C>T|p.Cys777Cys|2801/6886|2331/3516|777/1171|| 22 50279740 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2430C>T|p.Asn810Asn|2900/6886|2430/3516|810/1171|| 22 50279749 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2439C>T|p.Ile813Ile|2909/6886|2439/3516|813/1171|| 22 50279782 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2472C>T|p.Ser824Ser|2942/6886|2472/3516|824/1171|| 22 50279803 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2493G>A|p.Thr831Thr|2963/6886|2493/3516|831/1171|| 22 50279812 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2502G>A|p.Leu834Leu|2972/6886|2502/3516|834/1171|| 22 50279941 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2631C>T|p.Tyr877Tyr|3101/6886|2631/3516|877/1171|| 22 50279962 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2652C>T|p.Leu884Leu|3122/6886|2652/3516|884/1171|| 22 50280044 . A T . . ANN=T|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2734A>T|p.Met912Leu|3204/6886|2734/3516|912/1171|| 22 50280118 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2808G>A|p.Ala936Ala|3278/6886|2808/3516|936/1171|| 22 50280136 . T C . . ANN=C|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.2826T>C|p.Ala942Ala|3296/6886|2826/3516|942/1171|| 22 50280322 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.3012C>T|p.Phe1004Phe|3482/6886|3012/3516|1004/1171|| 22 50280472 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.3162G>A|p.Pro1054Pro|3632/6886|3162/3516|1054/1171|| 22 50280475 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.3165G>A|p.Ser1055Ser|3635/6886|3165/3516|1055/1171|| 22 50280646 . G A . . ANN=A|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.3336G>A|p.Pro1112Pro|3806/6886|3336/3516|1112/1171|| 22 50280655 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.3345C>T|p.Ser1115Ser|3815/6886|3345/3516|1115/1171|| 22 50280688 . A C . . ANN=C|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.3378A>C|p.Pro1126Pro|3848/6886|3378/3516|1126/1171|| 22 50280733 . C T . . ANN=T|synonymous_variant|LOW|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.3423C>T|p.Asn1141Asn|3893/6886|3423/3516|1141/1171|| 22 50280759 . T C . . ANN=C|missense_variant|MODERATE|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.3449T>C|p.Met1150Thr|3919/6886|3449/3516|1150/1171|| 22 50280834 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.*8G>A|||||8| 22 50280837 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.*11G>A|||||11| 22 50280856 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.*30C>T|||||30| 22 50280857 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.*31G>A|||||31| 22 50280870 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.*44C>T|||||44| 22 50280874 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|ZBED4|ZBED4|transcript|NM_014838.2|Coding|2/2|c.*48A>G|||||48| 22 50297444 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|10/10|c.*42G>A|||||42| 22 50297485 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|10/10|c.*1G>C|||||1| 22 50297525 . T C . . ANN=C|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|10/10|c.1428A>G|p.Thr476Thr|1702/2373|1428/1467|476/488|| 22 50297591 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|10/10|c.1362C>T|p.Val454Val|1636/2373|1362/1467|454/488|| 22 50297654 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|10/10|c.1299C>T|p.Leu433Leu|1573/2373|1299/1467|433/488|| 22 50297714 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|10/10|c.1239G>C|p.Arg413Ser|1513/2373|1239/1467|413/488|| 22 50297754 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|9/9|c.1239-40G>A|||||| 22 50297757 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|9/9|c.1239-43G>A|||||| 22 50297841 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|9/10|c.1224C>T|p.Val408Val|1498/2373|1224/1467|408/488|| 22 50297888 . T C . . ANN=C|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|9/10|c.1177A>G|p.Ile393Val|1451/2373|1177/1467|393/488|| 22 50297921 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|8/9|c.1163-19G>A|||||| 22 50297992 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|8/10|c.1155C>T|p.Pro385Pro|1429/2373|1155/1467|385/488|| 22 50298100 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|8/10|c.1047C>T|p.Ile349Ile|1321/2373|1047/1467|349/488|| 22 50298118 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|8/10|c.1029G>A|p.Ala343Ala|1303/2373|1029/1467|343/488|| 22 50298173 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|7/9|c.993-19G>A|||||| 22 50301422 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|7/10|c.939C>T|p.Ile313Ile|1213/2373|939/1467|313/488|| 22 50301476 . T C . . ANN=C|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|7/10|c.885A>G|p.Ala295Ala|1159/2373|885/1467|295/488|| 22 50301488 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|7/10|c.873G>A|p.Pro291Pro|1147/2373|873/1467|291/488|| 22 50301494 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|7/10|c.867C>T|p.His289His|1141/2373|867/1467|289/488|| 22 50301584 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|7/10|c.777G>A|p.Pro259Pro|1051/2373|777/1467|259/488|| 22 50301613 . GCCACGCACCTGT G . . ANN=G|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|6/9|c.769-33_769-22delACAGGTGCGTGG|||||| 22 50301622 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|6/9|c.769-30G>A|||||| 22 50302875 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|6/9|c.768+17G>A|||||| 22 50302891 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|ALG12|ALG12|transcript|NM_024105.3|Coding|6/9|c.768+1G>A||||||;LOF=(ALG12|ALG12|1|1.00) 22 50302962 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|6/10|c.698G>A|p.Arg233Gln|972/2373|698/1467|233/488|| 22 50302995 . C G . . ANN=G|missense_variant&splice_region_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|6/10|c.665G>C|p.Gly222Ala|939/2373|665/1467|222/488|| 22 50303024 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|5/9|c.665-29G>A|||||| 22 50303495 . A G . . ANN=G|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|5/9|c.664+47T>C|||||| 22 50303515 . A C . . ANN=C|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|5/9|c.664+27T>G|||||| 22 50303524 . CCA C . . ANN=C|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|5/9|c.664+16_664+17delTG|||||| 22 50303530 . T C . . ANN=C|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|5/9|c.664+12A>G|||||| 22 50303533 . C G . . ANN=G|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|5/9|c.664+9G>C|||||| 22 50303554 . T C . . ANN=C|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|5/10|c.652A>G|p.Ile218Val|926/2373|652/1467|218/488|| 22 50303561 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|5/10|c.645G>A|p.Pro215Pro|919/2373|645/1467|215/488|| 22 50303567 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|5/10|c.639C>T|p.Ala213Ala|913/2373|639/1467|213/488|| 22 50303569 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|5/10|c.637G>A|p.Ala213Thr|911/2373|637/1467|213/488|| 22 50303575 . G A . . ANN=A|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|5/10|c.631C>T|p.Arg211Cys|905/2373|631/1467|211/488|| 22 50303666 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|5/10|c.540C>T|p.Ile180Ile|814/2373|540/1467|180/488|| 22 50303705 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|5/10|c.501C>T|p.His167His|775/2373|501/1467|167/488|| 22 50303748 . T A . . ANN=A|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|4/9|c.470-12A>T|||||| 22 50304068 . C T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|4/9|c.469+14G>A|||||| 22 50304069 . G A . . ANN=A|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|4/9|c.469+13C>T|||||| 22 50304086 . A G . . ANN=G|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|4/10|c.465T>C|p.Pro155Pro|739/2373|465/1467|155/488|| 22 50304136 . G A . . ANN=A|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|4/10|c.415C>T|p.His139Tyr|689/2373|415/1467|139/488|| 22 50304166 . T C . . ANN=C|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|4/10|c.385A>G|p.Met129Val|659/2373|385/1467|129/488|| 22 50304192 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|4/10|c.359G>A|p.Arg120Gln|633/2373|359/1467|120/488|| 22 50304232 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|4/10|c.319G>A|p.Val107Met|593/2373|319/1467|107/488|| 22 50307139 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|3/10|c.189C>T|p.Val63Val|463/2373|189/1467|63/488|| 22 50307162 . C T . . ANN=T|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|3/10|c.166G>A|p.Asp56Asn|440/2373|166/1467|56/488|| 22 50307184 . G T . . ANN=T|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|2/9|c.163-19C>A|||||| 22 50307229 . CA C . . ANN=C|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|2/9|c.162+22delT|||||| 22 50307236 . A C . . ANN=C|intron_variant|MODIFIER|ALG12|ALG12|transcript|NM_024105.3|Coding|2/9|c.162+16T>G|||||| 22 50307282 . G A . . ANN=A|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|2/10|c.132C>T|p.Asp44Asp|406/2373|132/1467|44/488|| 22 50307315 . C T . . ANN=T|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|2/10|c.99G>A|p.Val33Val|373/2373|99/1467|33/488|| 22 50307366 . C G . . ANN=G|synonymous_variant|LOW|ALG12|ALG12|transcript|NM_024105.3|Coding|2/10|c.48G>C|p.Leu16Leu|322/2373|48/1467|16/488|| 22 50307386 . G A . . ANN=A|missense_variant|MODERATE|ALG12|ALG12|transcript|NM_024105.3|Coding|2/10|c.28C>T|p.Arg10Trp|302/2373|28/1467|10/488|| 22 50312382 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|1/11|c.-36G>A|||||36|,A|5_prime_UTR_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|1/9|c.-36G>A|||||36|,A|5_prime_UTR_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|1/9|c.-36G>A|||||36|,A|5_prime_UTR_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|1/10|c.-36G>A|||||36|,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|1/10|n.105G>A|||||| 22 50312543 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|1/11|c.126C>T|p.Asn42Asn|266/1582|126/1209|42/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|1/9|c.126C>T|p.Asn42Asn|266/1351|126/978|42/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|1/9|c.126C>T|p.Asn42Asn|266/1339|126/966|42/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|1/10|c.126C>T|p.Asn42Asn|266/1435|126/1062|42/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|1/10|n.266C>T|||||| 22 50312869 . T C . . ANN=C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|1/10|c.130-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|1/8|c.130-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|1/8|c.130-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|1/9|c.130-9T>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|1/9|n.270-9T>C|||||| 22 50312895 . AAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|2/11|c.153_155delGAA|p.Lys51del|293/1582|153/1209|51/402||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|2/9|c.153_155delGAA|p.Lys51del|293/1351|153/978|51/325||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|2/9|c.153_155delGAA|p.Lys51del|293/1339|153/966|51/321||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|2/10|c.153_155delGAA|p.Lys51del|293/1435|153/1062|51/353||INFO_REALIGN_3_PRIME,|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|2/10|n.293_295delGAA||||||INFO_REALIGN_3_PRIME 22 50312979 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|2/10|c.212+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|2/8|c.212+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|2/8|c.212+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|2/9|c.212+19C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|2/9|n.352+19C>T|||||| 22 50313344 . G C . . ANN=C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|2/10|c.213-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|2/8|c.213-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|2/8|c.213-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|2/9|c.213-34G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|2/9|n.353-34G>C|||||| 22 50313358 . G C . . ANN=C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|2/10|c.213-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|2/8|c.213-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|2/8|c.213-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|2/9|c.213-20G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|2/9|n.353-20G>C|||||| 22 50313359 . G A . . ANN=A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|2/10|c.213-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|2/8|c.213-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|2/8|c.213-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|2/9|c.213-19G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|2/9|n.353-19G>A|||||| 22 50313438 . T C . . ANN=C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|3/11|c.273T>C|p.Asn91Asn|413/1582|273/1209|91/402||,C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|3/9|c.273T>C|p.Asn91Asn|413/1351|273/978|91/325||,C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|3/9|c.273T>C|p.Asn91Asn|413/1339|273/966|91/321||,C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|3/10|c.273T>C|p.Asn91Asn|413/1435|273/1062|91/353||,C|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|3/10|n.413T>C|||||| 22 50313452 . C T . . ANN=T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|3/11|c.287C>T|p.Ala96Val|427/1582|287/1209|96/402||,T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|3/9|c.287C>T|p.Ala96Val|427/1351|287/978|96/325||,T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|3/9|c.287C>T|p.Ala96Val|427/1339|287/966|96/321||,T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|3/10|c.287C>T|p.Ala96Val|427/1435|287/1062|96/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|3/10|n.427C>T|||||| 22 50313791 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|3/10|c.324-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|3/8|c.324-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|3/8|c.324-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|3/9|c.324-13C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|3/9|n.464-13C>T|||||| 22 50313810 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|4/11|c.330C>T|p.Ser110Ser|470/1582|330/1209|110/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|4/9|c.330C>T|p.Ser110Ser|470/1351|330/978|110/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|4/9|c.330C>T|p.Ser110Ser|470/1339|330/966|110/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|4/10|c.330C>T|p.Ser110Ser|470/1435|330/1062|110/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|4/10|n.470C>T|||||| 22 50313826 . T C . . ANN=C|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|4/11|c.346T>C|p.Phe116Leu|486/1582|346/1209|116/402||,C|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|4/9|c.346T>C|p.Phe116Leu|486/1351|346/978|116/325||,C|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|4/9|c.346T>C|p.Phe116Leu|486/1339|346/966|116/321||,C|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|4/10|c.346T>C|p.Phe116Leu|486/1435|346/1062|116/353||,C|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|4/10|n.486T>C|||||| 22 50313846 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|4/11|c.366G>A|p.Lys122Lys|506/1582|366/1209|122/402||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|4/9|c.366G>A|p.Lys122Lys|506/1351|366/978|122/325||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|4/9|c.366G>A|p.Lys122Lys|506/1339|366/966|122/321||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|4/10|c.366G>A|p.Lys122Lys|506/1435|366/1062|122/353||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|4/10|n.506G>A|||||| 22 50313880 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|4/11|c.400G>A|p.Gly134Ser|540/1582|400/1209|134/402||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|4/9|c.400G>A|p.Gly134Ser|540/1351|400/978|134/325||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|4/9|c.400G>A|p.Gly134Ser|540/1339|400/966|134/321||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|4/10|c.400G>A|p.Gly134Ser|540/1435|400/1062|134/353||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|4/10|n.540G>A|||||| 22 50313899 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|4/10|c.415+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|4/8|c.415+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|4/8|c.415+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|4/9|c.415+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|4/9|n.555+4C>T|||||| 22 50313930 . G C . . ANN=C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|4/10|c.415+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|4/8|c.415+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|4/8|c.415+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|4/9|c.415+35G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|4/9|n.555+35G>C|||||| 22 50315228 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|4/10|c.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|4/8|c.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|4/8|c.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|4/9|c.416-5T>C||||||,C|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|4/9|n.556-5T>C|||||| 22 50315303 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/11|c.486C>T|p.Gly162Gly|626/1582|486/1209|162/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/9|c.486C>T|p.Gly162Gly|626/1351|486/978|162/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/9|c.486C>T|p.Gly162Gly|626/1339|486/966|162/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/10|c.486C>T|p.Gly162Gly|626/1435|486/1062|162/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/10|n.626C>T|||||| 22 50315306 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/11|c.489C>T|p.Asp163Asp|629/1582|489/1209|163/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/9|c.489C>T|p.Asp163Asp|629/1351|489/978|163/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/9|c.489C>T|p.Asp163Asp|629/1339|489/966|163/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/10|c.489C>T|p.Asp163Asp|629/1435|489/1062|163/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/10|n.629C>T|||||| 22 50315361 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/11|c.544G>A|p.Asp182Asn|684/1582|544/1209|182/402||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/9|c.544G>A|p.Asp182Asn|684/1351|544/978|182/325||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/9|c.544G>A|p.Asp182Asn|684/1339|544/966|182/321||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/10|c.544G>A|p.Asp182Asn|684/1435|544/1062|182/353||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/10|n.684G>A|||||| 22 50315363 . C A . . ANN=A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/11|c.546C>A|p.Asp182Glu|686/1582|546/1209|182/402||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/9|c.546C>A|p.Asp182Glu|686/1351|546/978|182/325||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/9|c.546C>A|p.Asp182Glu|686/1339|546/966|182/321||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/10|c.546C>A|p.Asp182Glu|686/1435|546/1062|182/353||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/10|n.686C>A|||||| 22 50315382 . C G . . ANN=G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/11|c.565C>G|p.Arg189Gly|705/1582|565/1209|189/402||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/9|c.565C>G|p.Arg189Gly|705/1351|565/978|189/325||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/9|c.565C>G|p.Arg189Gly|705/1339|565/966|189/321||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/10|c.565C>G|p.Arg189Gly|705/1435|565/1062|189/353||,G|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/10|n.705C>G|||||| 22 50315386 . A G . . ANN=G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/11|c.569A>G|p.Asn190Ser|709/1582|569/1209|190/402||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/9|c.569A>G|p.Asn190Ser|709/1351|569/978|190/325||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/9|c.569A>G|p.Asn190Ser|709/1339|569/966|190/321||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/10|c.569A>G|p.Asn190Ser|709/1435|569/1062|190/353||,G|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/10|n.709A>G|||||| 22 50315413 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/10|c.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.592+4C>T||||||,T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.732+4C>T|||||| 22 50315421 . G A . . ANN=A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/10|c.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.592+12G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.732+12G>A|||||| 22 50315902 . G C . . ANN=C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/10|c.593-43G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-358G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-358G>C|||||| 22 50315904 . TAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC T . . ANN=T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/10|c.593-40_593-3delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-355_593-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-355_733-318delAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC|||||| 22 50315924 . G T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/10|c.593-21G>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-336G>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-336G>T|||||| 22 50315928 . C G . . ANN=G|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/10|c.593-17C>G||||||,G|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-332C>G||||||,G|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-332C>G|||||| 22 50315935 . CCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG C . . ANN=C|frameshift_variant&splice_acceptor_variant&splice_region_variant&splice_region_variant&intron_variant|HIGH|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|6/11|c.593-9_621delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG|p.Val198fs||593/1209|198/402||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-324_593-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-324_733-287delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG||||||;LOF=(CRELD2|CRELD2|5|0.20) 22 50315938 . TC T . . ANN=T|splice_region_variant&intron_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|5/10|c.593-6delC||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-321delC||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-321delC||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-321delC||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-321delC|||||| 22 50315961 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|6/11|c.609C>T|p.Ser203Ser|749/1582|609/1209|203/402||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-299C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-299C>T|||||| 22 50315973 . G C . . ANN=C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|6/11|c.621G>C|p.Pro207Pro|761/1582|621/1209|207/402||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-287G>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-287G>C|||||| 22 50316007 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|6/11|c.655G>A|p.Val219Met|795/1582|655/1209|219/402||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-253G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-253G>A|||||| 22 50316015 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|6/11|c.663C>T|p.His221His|803/1582|663/1209|221/402||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|5/8|c.593-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|5/8|c.593-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|5/9|c.593-245C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|5/9|n.733-245C>T|||||| 22 50316288 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|7/11|c.768G>A|p.Ser256Ser|908/1582|768/1209|256/402||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/9|c.621G>A|p.Ser207Ser|761/1351|621/978|207/325||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|6/9|c.621G>A|p.Ser207Ser|761/1339|621/966|207/321||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|6/10|c.621G>A|p.Ser207Ser|761/1435|621/1062|207/353||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|6/10|n.761G>A|||||| 22 50316369 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|7/10|c.835+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|6/8|c.688+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|6/9|c.688+14C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|6/9|n.828+14C>T|||||| 22 50316374 . G A . . ANN=A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|7/10|c.835+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|6/8|c.688+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|6/9|c.688+19G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|6/9|n.828+19G>A|||||| 22 50316835 . T C . . ANN=C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|7/10|c.836-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+480T>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|6/8|c.689-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|6/9|c.689-47T>C||||||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|6/9|n.829-47T>C|||||| 22 50316839 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|7/10|c.836-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+484C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|6/8|c.689-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|6/9|c.689-43C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|6/9|n.829-43C>T|||||| 22 50316901 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|8/11|c.855C>T|p.Ala285Ala|995/1582|855/1209|285/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/9|c.708C>T|p.Ala236Ala|848/1339|708/966|236/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|7/10|c.708C>T|p.Ala236Ala|848/1435|708/1062|236/353||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+546C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|7/10|n.848C>T|||||| 22 50316902 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|8/11|c.856G>A|p.Glu286Lys|996/1582|856/1209|286/402||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/9|c.709G>A|p.Glu237Lys|849/1339|709/966|237/321||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|7/10|c.709G>A|p.Glu237Lys|849/1435|709/1062|237/353||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+547G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|7/10|n.849G>A|||||| 22 50316906 . C T . . ANN=T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|8/11|c.860C>T|p.Pro287Leu|1000/1582|860/1209|287/402||,T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/9|c.713C>T|p.Pro238Leu|853/1339|713/966|238/321||,T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|7/10|c.713C>T|p.Pro238Leu|853/1435|713/1062|238/353||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+551C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|7/10|n.853C>T|||||| 22 50316925 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|8/11|c.879G>A|p.Ala293Ala|1019/1582|879/1209|293/402||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/9|c.732G>A|p.Ala244Ala|872/1339|732/966|244/321||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|7/10|c.732G>A|p.Ala244Ala|872/1435|732/1062|244/353||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+570G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|7/10|n.872G>A|||||| 22 50316984 . T TCTGCACTCCGGGGC . . ANN=ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|8/10|c.919+24_919+37dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+634_688+647dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.772+24_772+37dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|7/9|c.772+24_772+37dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME,ACTCCGGGGCCTGC|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|7/10|n.936_949dupACTCCGGGGCCTGC||||||INFO_REALIGN_3_PRIME 22 50317004 . G A . . ANN=A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|8/10|c.919+39G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.688+649G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.772+39G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|7/9|c.772+39G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|7/10|n.951G>A|||||| 22 50317980 . G A . . ANN=A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|8/10|c.920-28G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.689-28G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.772+1015G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|7/9|c.773-28G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|7/9|n.1056-28G>A|||||| 22 50317989 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|8/10|c.920-19C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|6/8|c.689-19C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.772+1024C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|7/9|c.773-19C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|7/9|n.1056-19C>T|||||| 22 50318061 . G C . . ANN=C|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|9/11|c.973G>C|p.Glu325Gln|1113/1582|973/1209|325/402||,C|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|7/9|c.742G>C|p.Glu248Gln|882/1351|742/978|248/325||,C|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|8/10|c.826G>C|p.Glu276Gln|966/1435|826/1062|276/353||,C|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.773-1004G>C||||||,C|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|8/10|n.1109G>C|||||| 22 50318079 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|9/11|c.991G>A|p.Ala331Thr|1131/1582|991/1209|331/402||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|7/9|c.760G>A|p.Ala254Thr|900/1351|760/978|254/325||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|8/10|c.844G>A|p.Ala282Thr|984/1435|844/1062|282/353||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.773-986G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|8/10|n.1127G>A|||||| 22 50318090 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|9/11|c.1002C>T|p.His334His|1142/1582|1002/1209|334/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|7/9|c.771C>T|p.His257His|911/1351|771/978|257/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|8/10|c.855C>T|p.His285His|995/1435|855/1062|285/353||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.773-975C>T||||||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|8/10|n.1138C>T|||||| 22 50318091 . G A . . ANN=A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|9/11|c.1003G>A|p.Gly335Arg|1143/1582|1003/1209|335/402||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|7/9|c.772G>A|p.Gly258Arg|912/1351|772/978|258/325||,A|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|8/10|c.856G>A|p.Gly286Arg|996/1435|856/1062|286/353||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.773-974G>A||||||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|8/10|n.1139G>A|||||| 22 50318128 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|9/10|c.1015+25C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|7/8|c.784+25C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.773-937C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|8/9|c.868+25C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|8/9|n.1151+25C>T|||||| 22 50319017 . G A . . ANN=A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|9/10|c.1016-48G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|7/8|c.785-48G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|7/8|c.773-48G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|8/9|c.869-48G>A||||||,A|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|8/9|n.1152-48G>A|||||| 22 50319072 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1023C>T|p.Asp341Asp|1163/1582|1023/1209|341/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.792C>T|p.Asp264Asp|932/1351|792/978|264/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.780C>T|p.Asp260Asp|920/1339|780/966|260/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.876C>T|p.Asp292Asp|1016/1435|876/1062|292/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1159C>T|||||| 22 50319078 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1029C>T|p.Cys343Cys|1169/1582|1029/1209|343/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.798C>T|p.Cys266Cys|938/1351|798/978|266/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.786C>T|p.Cys262Cys|926/1339|786/966|262/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.882C>T|p.Cys294Cys|1022/1435|882/1062|294/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1165C>T|||||| 22 50319079 . T G . . ANN=G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1030T>G|p.Ser344Ala|1170/1582|1030/1209|344/402||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.799T>G|p.Ser267Ala|939/1351|799/978|267/325||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.787T>G|p.Ser263Ala|927/1339|787/966|263/321||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.883T>G|p.Ser295Ala|1023/1435|883/1062|295/353||,G|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1166T>G|||||| 22 50319102 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1053G>A|p.Val351Val|1193/1582|1053/1209|351/402||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.822G>A|p.Val274Val|962/1351|822/978|274/325||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.810G>A|p.Val270Val|950/1339|810/966|270/321||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.906G>A|p.Val302Val|1046/1435|906/1062|302/353||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1189G>A|||||| 22 50319135 . G C . . ANN=C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1086G>C|p.Gly362Gly|1226/1582|1086/1209|362/402||,C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.855G>C|p.Gly285Gly|995/1351|855/978|285/325||,C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.843G>C|p.Gly281Gly|983/1339|843/966|281/321||,C|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.939G>C|p.Gly313Gly|1079/1435|939/1062|313/353||,C|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1222G>C|||||| 22 50319141 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1092C>T|p.Tyr364Tyr|1232/1582|1092/1209|364/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.861C>T|p.Tyr287Tyr|1001/1351|861/978|287/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.849C>T|p.Tyr283Tyr|989/1339|849/966|283/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.945C>T|p.Tyr315Tyr|1085/1435|945/1062|315/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1228C>T|||||| 22 50319159 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1110C>T|p.Asp370Asp|1250/1582|1110/1209|370/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.879C>T|p.Asp293Asp|1019/1351|879/978|293/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.867C>T|p.Asp289Asp|1007/1339|867/966|289/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.963C>T|p.Asp321Asp|1103/1435|963/1062|321/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1246C>T|||||| 22 50319170 . A G . . ANN=G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1121A>G|p.Glu374Gly|1261/1582|1121/1209|374/402||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.890A>G|p.Glu297Gly|1030/1351|890/978|297/325||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.878A>G|p.Glu293Gly|1018/1339|878/966|293/321||,G|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.974A>G|p.Glu325Gly|1114/1435|974/1062|325/353||,G|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1257A>G|||||| 22 50319174 . G A . . ANN=A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1125G>A|p.Thr375Thr|1265/1582|1125/1209|375/402||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.894G>A|p.Thr298Thr|1034/1351|894/978|298/325||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.882G>A|p.Thr294Thr|1022/1339|882/966|294/321||,A|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.978G>A|p.Thr326Thr|1118/1435|978/1062|326/353||,A|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1261G>A|||||| 22 50319193 . C T . . ANN=T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/11|c.1144C>T|p.Pro382Ser|1284/1582|1144/1209|382/402||,T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/9|c.913C>T|p.Pro305Ser|1053/1351|913/978|305/325||,T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/9|c.901C>T|p.Pro301Ser|1041/1339|901/966|301/321||,T|missense_variant|MODERATE|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/10|c.997C>T|p.Pro333Ser|1137/1435|997/1062|333/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/10|n.1280C>T|||||| 22 50319216 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/10|c.1156+11C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/8|c.925+11C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/8|c.913+11C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/9|c.1009+11C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/9|n.1292+11C>T|||||| 22 50319223 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/10|c.1156+18C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/8|c.925+18C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/8|c.913+18C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/9|c.1009+18C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/9|n.1292+18C>T|||||| 22 50319231 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/10|c.1156+26C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/8|c.925+26C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/8|c.913+26C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/9|c.1009+26C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/9|n.1292+26C>T|||||| 22 50320853 . C T . . ANN=T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|10/10|c.1157-50C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|8/8|c.926-50C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|8/8|c.914-50C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|9/9|c.1010-50C>T||||||,T|intron_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|9/9|n.1293-50C>T|||||| 22 50320943 . C T . . ANN=T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|11/11|c.1197C>T|p.Arg399Arg|1337/1582|1197/1209|399/402||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|9/9|c.966C>T|p.Arg322Arg|1106/1351|966/978|322/325||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|9/9|c.954C>T|p.Arg318Arg|1094/1339|954/966|318/321||,T|synonymous_variant|LOW|CRELD2|CRELD2|transcript|NM_024324.4|Coding|10/10|c.1050C>T|p.Arg350Arg|1190/1435|1050/1062|350/353||,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|10/10|n.1333C>T|||||| 22 50320994 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001135101.2|Coding|11/11|c.*39C>T|||||39|,T|3_prime_UTR_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284317.1|Coding|9/9|c.*39C>T|||||39|,T|3_prime_UTR_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_001284318.1|Coding|9/9|c.*39C>T|||||39|,T|3_prime_UTR_variant|MODIFIER|CRELD2|CRELD2|transcript|NM_024324.4|Coding|10/10|c.*39C>T|||||39|,T|non_coding_exon_variant|MODIFIER|CRELD2|CRELD2|transcript|NR_104295.1|Noncoding|10/10|n.1384C>T|||||| 22 50354558 . G T . . ANN=T|5_prime_UTR_variant|MODIFIER|PIM3|PIM3|transcript|NM_001001852.3|Coding|1/6|c.-38G>T|||||38| 22 50354819 . C A . . ANN=A|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|2/6|c.132C>A|p.Ala44Ala|585/2379|132/981|44/326|| 22 50355407 . C T . . ANN=T|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|4/6|c.564C>T|p.Ile188Ile|1017/2379|564/981|188/326|| 22 50356293 . G C . . ANN=C|intron_variant|MODIFIER|PIM3|PIM3|transcript|NM_001001852.3|Coding|4/5|c.617-44G>C|||||| 22 50356302 . C T . . ANN=T|intron_variant|MODIFIER|PIM3|PIM3|transcript|NM_001001852.3|Coding|4/5|c.617-35C>T|||||| 22 50356313 . G C . . ANN=C|intron_variant|MODIFIER|PIM3|PIM3|transcript|NM_001001852.3|Coding|4/5|c.617-24G>C|||||| 22 50356330 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|4/5|c.617-7C>T|||||| 22 50356367 . TCCGCTACCA T . . ANN=|inframe_deletion|MODERATE|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/6|c.658_666delCGCTACCAC|p.Arg220_His222del|1111/2379|658/981|220/326||INFO_REALIGN_3_PRIME 22 50356368 . C T . . ANN=T|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/6|c.648C>T|p.Ile216Ile|1101/2379|648/981|216/326|| 22 50356386 . C T . . ANN=T|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/6|c.666C>T|p.His222His|1119/2379|666/981|222/326|| 22 50356473 . C T . . ANN=T|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/6|c.753C>T|p.Ile251Ile|1206/2379|753/981|251/326|| 22 50356497 . G A . . ANN=A|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/6|c.777G>A|p.Arg259Arg|1230/2379|777/981|259/326|| 22 50356503 . G A . . ANN=A|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/6|c.783G>A|p.Arg261Arg|1236/2379|783/981|261/326|| 22 50356506 . C G . . ANN=G|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/6|c.786C>G|p.Val262Val|1239/2379|786/981|262/326|| 22 50356555 . T C . . ANN=C|intron_variant|MODIFIER|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/5|c.794-33T>C||||||,C|non_coding_exon_variant|MODIFIER|MIR6821|MIR6821|transcript|NR_106879.1|Noncoding|1/1|n.42T>C|||||| 22 50356570 . C T . . ANN=T|intron_variant|MODIFIER|PIM3|PIM3|transcript|NM_001001852.3|Coding|5/5|c.794-18C>T||||||,T|non_coding_exon_variant|MODIFIER|MIR6821|MIR6821|transcript|NR_106879.1|Noncoding|1/1|n.57C>T|||||| 22 50356658 . G A . . ANN=A|synonymous_variant|LOW|PIM3|PIM3|transcript|NM_001001852.3|Coding|6/6|c.864G>A|p.Ala288Ala|1317/2379|864/981|288/326|| 22 50356693 . T C . . ANN=C|missense_variant|MODERATE|PIM3|PIM3|transcript|NM_001001852.3|Coding|6/6|c.899T>C|p.Val300Ala|1352/2379|899/981|300/326|| 22 50356731 . C T . . ANN=T|missense_variant|MODERATE|PIM3|PIM3|transcript|NM_001001852.3|Coding|6/6|c.937C>T|p.Pro313Ser|1390/2379|937/981|313/326|| 22 50356811 . G T . . ANN=T|3_prime_UTR_variant|MODIFIER|PIM3|PIM3|transcript|NM_001001852.3|Coding|6/6|c.*36G>T|||||36| 22 50435480 . A G . . ANN=G|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|14/15|c.998T>C|p.Leu333Pro|1230/3635|998/1011|333/336|| 22 50435723 . G A . . ANN=A|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|13/14|c.974+26C>T|||||| 22 50435733 . C T . . ANN=T|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|13/14|c.974+16G>A|||||| 22 50435784 . G A . . ANN=A|synonymous_variant|LOW|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|13/15|c.939C>T|p.Asn313Asn|1171/3635|939/1011|313/336|| 22 50435827 . C T . . ANN=T|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|13/15|c.896G>A|p.Cys299Tyr|1128/3635|896/1011|299/336|| 22 50436211 . T C . . ANN=C|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|11/14|c.820-40A>G|||||| 22 50436212 . G T . . ANN=T|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|11/14|c.820-41C>A|||||| 22 50436215 . A G . . ANN=G|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|11/14|c.820-44T>C|||||| 22 50436488 . G A . . ANN=A|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|11/15|c.785C>T|p.Pro262Leu|1017/3635|785/1011|262/336|| 22 50436546 . C T . . ANN=T|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|10/14|c.774+20G>A|||||| 22 50436553 . A C . . ANN=C|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|10/14|c.774+13T>G|||||| 22 50436571 . G A . . ANN=A|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|10/15|c.769C>T|p.Arg257Cys|1001/3635|769/1011|257/336|| 22 50436604 . G C . . ANN=C|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|10/15|c.736C>G|p.Arg246Gly|968/3635|736/1011|246/336|| 22 50437711 . G T . . ANN=T|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|9/14|c.601+9C>A|||||| 22 50437747 . G C . . ANN=C|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|9/15|c.574C>G|p.Arg192Gly|806/3635|574/1011|192/336|| 22 50437784 . G C . . ANN=C|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|8/14|c.547-10C>G|||||| 22 50437814 . T A . . ANN=A|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|8/14|c.547-40A>T|||||| 22 50437830 . G A . . ANN=A|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|8/14|c.546+30C>T|||||| 22 50437841 . A T . . ANN=T|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|8/14|c.546+19T>A|||||| 22 50437949 . C T . . ANN=T|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|7/14|c.475-18G>A|||||| 22 50437976 . G T . . ANN=T|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|7/14|c.475-45C>A|||||| 22 50438279 . T C . . ANN=C|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|7/15|c.452A>G|p.Glu151Gly|684/3635|452/1011|151/336|| 22 50438379 . A C . . ANN=C|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|7/15|c.352T>G|p.Trp118Gly|584/3635|352/1011|118/336|| 22 50438918 . T C . . ANN=C|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|6/15|c.323A>G|p.His108Arg|555/3635|323/1011|108/336|| 22 50439194 . C T . . ANN=T|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|5/15|c.208G>A|p.Gly70Arg|440/3635|208/1011|70/336|| 22 50439202 . C T . . ANN=T|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|5/15|c.200G>A|p.Arg67Gln|432/3635|200/1011|67/336|| 22 50439203 . G A . . ANN=A|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|5/15|c.199C>T|p.Arg67Trp|431/3635|199/1011|67/336|| 22 50439240 . C T . . ANN=T|synonymous_variant|LOW|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|5/15|c.162G>A|p.Thr54Thr|394/3635|162/1011|54/336|| 22 50439284 . G A . . ANN=A|missense_variant|MODERATE|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|5/15|c.118C>T|p.Arg40Trp|350/3635|118/1011|40/336|| 22 50439496 . G A . . ANN=A|intron_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|4/14|c.109+15C>T|||||| 22 50439626 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|4/15|c.-7C>T||||||,A|5_prime_UTR_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|4/15|c.-7C>T|||||7| 22 50439637 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|4/15|c.-18C>T||||||,A|5_prime_UTR_variant|MODIFIER|IL17REL|IL17REL|transcript|NM_001001694.2|Coding|4/15|c.-18C>T|||||18| 22 50454825 . A G . . ANN=G|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50454855 . G T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50454859 . A T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50454933 . C G . . ANN=G|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50454962 . G C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50455014 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50468819 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50468873 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50468907 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50468933 . G T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50468977 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50468991 . T C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50469215 . G T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470102 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470155 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470162 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470176 . G C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470196 . A G . . ANN=G|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470215 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470291 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470514 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50470516 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50471620 . AC A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50471646 . A G . . ANN=G|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50471685 . T C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50471771 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50472743 . G T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50472838 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50472865 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50472908 . C A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50479676 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50479680 . A G . . ANN=G|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50479753 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50480002 . T C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50480054 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50480073 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50480108 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50483671 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50483672 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50483826 . G C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50483850 . T C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50484271 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50484329 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50484343 . G T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50484345 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50484353 . GC G . . ANN=G|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50484405 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50485701 . G C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50485718 . A C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50487660 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50487661 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50487683 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50487790 . T C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50488502 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50488527 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50488528 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50488533 . G T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50488547 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50488562 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50488628 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50488642 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50492955 . T TGGAG . . ANN=TGGAG|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1|||n.null_nullinsGGAG|||||| 22 50492970 . C T . . ANN=T|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50493008 . G A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50493062 . T C . . ANN=C|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50493072 . A G . . ANN=G|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50493074 . C A . . ANN=A|intergenic_region|MODIFIER|IL17REL-MLC1|IL17REL-MLC1|intergenic_region|IL17REL-MLC1||||||||| 22 50499964 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|12/12|c.*48A>G|||||48|,C|3_prime_UTR_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|12/12|c.*48A>G|||||48| 22 50499965 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|12/12|c.*47C>T|||||47|,A|3_prime_UTR_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|12/12|c.*47C>T|||||47| 22 50499993 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|12/12|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|12/12|c.*19G>A|||||19| 22 50500000 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|12/12|c.*12G>A|||||12|,T|3_prime_UTR_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|12/12|c.*12G>A|||||12| 22 50500032 . C T . . ANN=T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|12/12|c.1114G>A|p.Val372Met|1748/3960|1114/1134|372/377||,T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|12/12|c.1114G>A|p.Val372Met|1387/3599|1114/1134|372/377|| 22 50502447 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|11/11|c.1059+16G>A||||||,T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|11/11|c.1059+16G>A|||||| 22 50502448 . CTG C . . ANN=C|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|11/11|c.1059+13_1059+14delCA||||||,C|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|11/11|c.1059+13_1059+14delCA|||||| 22 50502451 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|11/11|c.1059+12G>A||||||,T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|11/11|c.1059+12G>A|||||| 22 50502490 . G A . . ANN=A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|11/12|c.1032C>T|p.Asn344Asn|1666/3960|1032/1134|344/377||,A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|11/12|c.1032C>T|p.Asn344Asn|1305/3599|1032/1134|344/377|| 22 50502491 . T C . . ANN=C|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|11/12|c.1031A>G|p.Asn344Ser|1665/3960|1031/1134|344/377||,C|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|11/12|c.1031A>G|p.Asn344Ser|1304/3599|1031/1134|344/377|| 22 50502496 . G C . . ANN=C|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|11/12|c.1026C>G|p.Thr342Thr|1660/3960|1026/1134|342/377||,C|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|11/12|c.1026C>G|p.Thr342Thr|1299/3599|1026/1134|342/377|| 22 50502526 . A G . . ANN=G|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|11/12|c.996T>C|p.Ser332Ser|1630/3960|996/1134|332/377||,G|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|11/12|c.996T>C|p.Ser332Ser|1269/3599|996/1134|332/377|| 22 50502544 . G A . . ANN=A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|11/12|c.978C>T|p.Cys326Cys|1612/3960|978/1134|326/377||,A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|11/12|c.978C>T|p.Cys326Cys|1251/3599|978/1134|326/377|| 22 50502556 . G A . . ANN=A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|11/12|c.966C>T|p.Thr322Thr|1600/3960|966/1134|322/377||,A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|11/12|c.966C>T|p.Thr322Thr|1239/3599|966/1134|322/377|| 22 50502590 . A T . . ANN=T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|11/12|c.932T>A|p.Val311Glu|1566/3960|932/1134|311/377||,T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|11/12|c.932T>A|p.Val311Glu|1205/3599|932/1134|311/377|| 22 50506936 . T C . . ANN=C|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|10/12|c.820A>G|p.Thr274Ala|1454/3960|820/1134|274/377||,C|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|10/12|c.820A>G|p.Thr274Ala|1093/3599|820/1134|274/377|| 22 50507009 . G A . . ANN=A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|9/11|c.772-25C>T||||||,A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|9/11|c.772-25C>T|||||| 22 50507019 . G A . . ANN=A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|9/11|c.772-35C>T||||||,A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|9/11|c.772-35C>T|||||| 22 50512705 . G T . . ANN=T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|8/12|c.654C>A|p.Asn218Lys|1288/3960|654/1134|218/377||,T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|8/12|c.654C>A|p.Asn218Lys|927/3599|654/1134|218/377|| 22 50512732 . G A . . ANN=A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|8/12|c.627C>T|p.Ala209Ala|1261/3960|627/1134|209/377||,A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|8/12|c.627C>T|p.Ala209Ala|900/3599|627/1134|209/377|| 22 50512758 . C T . . ANN=T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|8/12|c.601G>A|p.Val201Ile|1235/3960|601/1134|201/377||,T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|8/12|c.601G>A|p.Val201Ile|874/3599|601/1134|201/377|| 22 50512761 . C A . . ANN=A|missense_variant&splice_region_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|8/12|c.598G>T|p.Val200Phe|1232/3960|598/1134|200/377||,A|missense_variant&splice_region_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|8/12|c.598G>T|p.Val200Phe|871/3599|598/1134|200/377|| 22 50512770 . G A . . ANN=A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|7/11|c.598-9C>T||||||,A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|7/11|c.598-9C>T|||||| 22 50515226 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|7/11|c.597+44G>A||||||,T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|7/11|c.597+44G>A|||||| 22 50515236 . T C . . ANN=C|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|7/11|c.597+34A>G||||||,C|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|7/11|c.597+34A>G|||||| 22 50515270 . T C . . ANN=C|splice_region_variant&synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|7/12|c.597A>G|p.Ser199Ser|1231/3960|597/1134|199/377||,C|splice_region_variant&synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|7/12|c.597A>G|p.Ser199Ser|870/3599|597/1134|199/377|| 22 50515273 . G A . . ANN=A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|7/12|c.594C>T|p.Tyr198Tyr|1228/3960|594/1134|198/377||,A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|7/12|c.594C>T|p.Tyr198Tyr|867/3599|594/1134|198/377|| 22 50515808 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|6/11|c.525+22G>A||||||,T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|6/11|c.525+22G>A|||||| 22 50515843 . C A . . ANN=A|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|6/12|c.512G>T|p.Cys171Phe|1146/3960|512/1134|171/377||,A|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|6/12|c.512G>T|p.Cys171Phe|785/3599|512/1134|171/377|| 22 50515966 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|5/11|c.424-35G>A||||||,T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|5/11|c.424-35G>A|||||| 22 50515977 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|5/11|c.424-46G>A||||||,T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|5/11|c.424-46G>A|||||| 22 50518300 . T C . . ANN=C|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|5/11|c.423+47A>G||||||,C|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|5/11|c.423+47A>G|||||| 22 50518320 . G A . . ANN=A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|5/11|c.423+27C>T||||||,A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|5/11|c.423+27C>T|||||| 22 50518325 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|5/11|c.423+22G>A||||||,T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|5/11|c.423+22G>A|||||| 22 50518416 . C T . . ANN=T|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|5/12|c.354G>A|p.Thr118Thr|988/3960|354/1134|118/377||,T|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|5/12|c.354G>A|p.Thr118Thr|627/3599|354/1134|118/377|| 22 50518723 . A G . . ANN=G|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|4/11|c.321+50T>C||||||,G|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|4/11|c.321+50T>C|||||| 22 50518815 . C T . . ANN=T|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|4/12|c.279G>A|p.Ser93Ser|913/3960|279/1134|93/377||,T|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|4/12|c.279G>A|p.Ser93Ser|552/3599|279/1134|93/377|| 22 50521564 . C T . . ANN=T|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|3/12|c.216G>A|p.Leu72Leu|850/3960|216/1134|72/377||,T|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|3/12|c.216G>A|p.Leu72Leu|489/3599|216/1134|72/377|| 22 50521582 . C G . . ANN=G|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|3/12|c.198G>C|p.Ser66Ser|832/3960|198/1134|66/377||,G|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|3/12|c.198G>C|p.Ser66Ser|471/3599|198/1134|66/377|| 22 50521642 . C T . . ANN=T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|2/11|c.178-40G>A||||||,T|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|2/11|c.178-40G>A|||||| 22 50523120 . G A . . ANN=A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|2/11|c.177+35C>T||||||,A|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|2/11|c.177+35C>T|||||| 22 50523140 . T C . . ANN=C|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_015166.3|Coding|2/11|c.177+15A>G||||||,C|intron_variant|MODIFIER|MLC1|MLC1|transcript|NM_139202.2|Coding|2/11|c.177+15A>G|||||| 22 50523237 . G A . . ANN=A|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|2/12|c.95C>T|p.Ala32Val|729/3960|95/1134|32/377||,A|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|2/12|c.95C>T|p.Ala32Val|368/3599|95/1134|32/377|| 22 50523238 . C T . . ANN=T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|2/12|c.94G>A|p.Ala32Thr|728/3960|94/1134|32/377||,T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|2/12|c.94G>A|p.Ala32Thr|367/3599|94/1134|32/377|| 22 50523239 . G A . . ANN=A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_015166.3|Coding|2/12|c.93C>T|p.Asp31Asp|727/3960|93/1134|31/377||,A|synonymous_variant|LOW|MLC1|MLC1|transcript|NM_139202.2|Coding|2/12|c.93C>T|p.Asp31Asp|366/3599|93/1134|31/377|| 22 50523256 . C T . . ANN=T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|2/12|c.76G>A|p.Ala26Thr|710/3960|76/1134|26/377||,T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|2/12|c.76G>A|p.Ala26Thr|349/3599|76/1134|26/377|| 22 50523267 . C T . . ANN=T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|2/12|c.65G>A|p.Arg22Gln|699/3960|65/1134|22/377||,T|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|2/12|c.65G>A|p.Arg22Gln|338/3599|65/1134|22/377|| 22 50523297 . T G . . ANN=G|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_015166.3|Coding|2/12|c.35A>C|p.Tyr12Ser|669/3960|35/1134|12/377||,G|missense_variant|MODERATE|MLC1|MLC1|transcript|NM_139202.2|Coding|2/12|c.35A>C|p.Tyr12Ser|308/3599|35/1134|12/377|| 22 50528497 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|1/27|c.-21A>G|||||21|,G|5_prime_UTR_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|1/26|c.-21A>G|||||21| 22 50528569 . A T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|1/27|c.52A>T|p.Thr18Ser|135/3957|52/3636|18/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|1/26|c.52A>T|p.Thr18Ser|135/3819|52/3498|18/1165|| 22 50528623 . C A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|1/26|c.97+9C>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|1/25|c.97+9C>A|||||| 22 50530381 . G C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|1/26|c.98-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|1/25|c.98-49G>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|1/25|c.38-49G>C|||||| 22 50530389 . G C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|1/26|c.98-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|1/25|c.98-41G>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|1/25|c.38-41G>C|||||| 22 50530501 . A T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|2/27|c.169A>T|p.Met57Leu|252/3957|169/3636|57/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|2/26|c.169A>T|p.Met57Leu|252/3819|169/3498|57/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|2/26|c.109A>T|p.Met37Leu|329/3942|109/3498|37/1165|| 22 50530564 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|2/27|c.232A>G|p.Ile78Val|315/3957|232/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|2/26|c.232A>G|p.Ile78Val|315/3819|232/3498|78/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|2/26|c.172A>G|p.Ile58Val|392/3942|172/3498|58/1165|| 22 50530566 . T G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|2/27|c.234T>G|p.Ile78Met|317/3957|234/3636|78/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|2/26|c.234T>G|p.Ile78Met|317/3819|234/3498|78/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|2/26|c.174T>G|p.Ile58Met|394/3942|174/3498|58/1165|| 22 50530651 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|2/26|c.282+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|2/25|c.282+37G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|2/25|c.222+37G>A|||||| 22 50530657 . G C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|2/26|c.282+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|2/25|c.282+43G>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|2/25|c.222+43G>C|||||| 22 50537888 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/27|c.299A>G|p.Asp100Gly|382/3957|299/3636|100/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/26|c.299A>G|p.Asp100Gly|382/3819|299/3498|100/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/26|c.239A>G|p.Asp80Gly|459/3942|239/3498|80/1165|| 22 50537901 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/27|c.312C>T|p.Asp104Asp|395/3957|312/3636|104/1211||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/26|c.312C>T|p.Asp104Asp|395/3819|312/3498|104/1165||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/26|c.252C>T|p.Asp84Asp|472/3942|252/3498|84/1165|| 22 50537916 . T C . . ANN=C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/27|c.327T>C|p.His109His|410/3957|327/3636|109/1211||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/26|c.327T>C|p.His109His|410/3819|327/3498|109/1165||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/26|c.267T>C|p.His89His|487/3942|267/3498|89/1165|| 22 50537957 . G C . . ANN=C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/27|c.368G>C|p.Cys123Ser|451/3957|368/3636|123/1211||,C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/26|c.368G>C|p.Cys123Ser|451/3819|368/3498|123/1165||,C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/26|c.308G>C|p.Cys103Ser|528/3942|308/3498|103/1165|| 22 50537961 . G C . . ANN=C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/27|c.372G>C|p.Val124Val|455/3957|372/3636|124/1211||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/26|c.372G>C|p.Val124Val|455/3819|372/3498|124/1165||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/26|c.312G>C|p.Val104Val|532/3942|312/3498|104/1165|| 22 50537980 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/27|c.391G>A|p.Ala131Thr|474/3957|391/3636|131/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/26|c.391G>A|p.Ala131Thr|474/3819|391/3498|131/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/26|c.331G>A|p.Ala111Thr|551/3942|331/3498|111/1165|| 22 50538028 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/27|c.439G>A|p.Glu147Lys|522/3957|439/3636|147/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/26|c.439G>A|p.Glu147Lys|522/3819|439/3498|147/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/26|c.379G>A|p.Glu127Lys|599/3942|379/3498|127/1165|| 22 50538053 . C G . . ANN=G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/26|c.442+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/25|c.442+22C>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/25|c.382+22C>G|||||| 22 50546544 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|3/26|c.443-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|3/25|c.443-21C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|3/25|c.383-21C>T|||||| 22 50546612 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|4/27|c.490C>T|p.Arg164Trp|573/3957|490/3636|164/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|4/26|c.490C>T|p.Arg164Trp|573/3819|490/3498|164/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|4/26|c.430C>T|p.Arg144Trp|650/3942|430/3498|144/1165|| 22 50546622 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|4/27|c.500C>T|p.Thr167Met|583/3957|500/3636|167/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|4/26|c.500C>T|p.Thr167Met|583/3819|500/3498|167/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|4/26|c.440C>T|p.Thr147Met|660/3942|440/3498|147/1165|| 22 50546637 . C G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|4/27|c.515C>G|p.Ala172Gly|598/3957|515/3636|172/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|4/26|c.515C>G|p.Ala172Gly|598/3819|515/3498|172/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|4/26|c.455C>G|p.Ala152Gly|675/3942|455/3498|152/1165|| 22 50546666 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|4/27|c.544C>T|p.Arg182Cys|627/3957|544/3636|182/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|4/26|c.544C>T|p.Arg182Cys|627/3819|544/3498|182/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|4/26|c.484C>T|p.Arg162Cys|704/3942|484/3498|162/1165|| 22 50546688 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|4/26|c.555+11G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|4/25|c.555+11G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|4/25|c.495+11G>A|||||| 22 50546725 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|4/26|c.555+48C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|4/25|c.555+48C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|4/25|c.495+48C>T|||||| 22 50547082 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|4/26|c.556-4C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|4/25|c.556-4C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|4/25|c.496-4C>T|||||| 22 50547101 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|5/27|c.571C>T|p.Leu191Phe|654/3957|571/3636|191/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|5/26|c.571C>T|p.Leu191Phe|654/3819|571/3498|191/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|5/26|c.511C>T|p.Leu171Phe|731/3942|511/3498|171/1165|| 22 50547247 . A G . . ANN=G|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|5/27|c.717A>G|p.Ala239Ala|800/3957|717/3636|239/1211||,G|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|5/26|c.717A>G|p.Ala239Ala|800/3819|717/3498|239/1165||,G|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|5/26|c.657A>G|p.Ala219Ala|877/3942|657/3498|219/1165|| 22 50552053 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|5/26|c.744-24G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|5/25|c.744-24G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|5/25|c.684-24G>A|||||| 22 50552119 . G T . . ANN=T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|6/27|c.786G>T|p.Thr262Thr|869/3957|786/3636|262/1211||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|6/26|c.786G>T|p.Thr262Thr|869/3819|786/3498|262/1165||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|6/26|c.726G>T|p.Thr242Thr|946/3942|726/3498|242/1165|| 22 50553013 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|7/27|c.1088C>T|p.Ser363Leu|1171/3957|1088/3636|363/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|7/26|c.1088C>T|p.Ser363Leu|1171/3819|1088/3498|363/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|7/26|c.1028C>T|p.Ser343Leu|1248/3942|1028/3498|343/1165|| 22 50553033 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|7/27|c.1108A>G|p.Asn370Asp|1191/3957|1108/3636|370/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|7/26|c.1108A>G|p.Asn370Asp|1191/3819|1108/3498|370/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|7/26|c.1048A>G|p.Asn350Asp|1268/3942|1048/3498|350/1165|| 22 50553085 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|7/26|c.1126+34C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|7/25|c.1126+34C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|7/25|c.1066+34C>T|||||| 22 50553086 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|7/26|c.1126+35G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|7/25|c.1126+35G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|7/25|c.1066+35G>A|||||| 22 50553514 . A T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|7/26|c.1127-29A>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|7/25|c.1127-29A>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|7/25|c.1067-29A>T|||||| 22 50553610 . G C . . ANN=C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|8/27|c.1194G>C|p.Glu398Asp|1277/3957|1194/3636|398/1211||,C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|8/26|c.1194G>C|p.Glu398Asp|1277/3819|1194/3498|398/1165||,C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|8/26|c.1134G>C|p.Glu378Asp|1354/3942|1134/3498|378/1165|| 22 50553645 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|8/27|c.1229A>G|p.Lys410Arg|1312/3957|1229/3636|410/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|8/26|c.1229A>G|p.Lys410Arg|1312/3819|1229/3498|410/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|8/26|c.1169A>G|p.Lys390Arg|1389/3942|1169/3498|390/1165|| 22 50553702 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|8/26|c.1259+27C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|8/25|c.1259+27C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|8/25|c.1199+27C>T|||||| 22 50553703 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|8/26|c.1259+28C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|8/25|c.1259+28C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|8/25|c.1199+28C>T|||||| 22 50555619 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1293C>T|p.Leu431Leu|1376/3957|1293/3636|431/1211||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1293C>T|p.Leu431Leu|1376/3819|1293/3498|431/1165||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1233C>T|p.Leu411Leu|1453/3942|1233/3498|411/1165|| 22 50555635 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1309C>T|p.Leu437Leu|1392/3957|1309/3636|437/1211||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1309C>T|p.Leu437Leu|1392/3819|1309/3498|437/1165||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1249C>T|p.Leu417Leu|1469/3942|1249/3498|417/1165|| 22 50555644 . C T . . ANN=T|stop_gained|HIGH|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1318C>T|p.Arg440*|1401/3957|1318/3636|440/1211||,T|stop_gained|HIGH|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1318C>T|p.Arg440*|1401/3819|1318/3498|440/1165||,T|stop_gained|HIGH|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1258C>T|p.Arg420*|1478/3942|1258/3498|420/1165||;LOF=(MOV10L1|MOV10L1|4|0.75);NMD=(MOV10L1|MOV10L1|4|0.75) 22 50555686 . A C . . ANN=C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1360A>C|p.Ile454Leu|1443/3957|1360/3636|454/1211||,C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1360A>C|p.Ile454Leu|1443/3819|1360/3498|454/1165||,C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1300A>C|p.Ile434Leu|1520/3942|1300/3498|434/1165|| 22 50555694 . G C . . ANN=C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1368G>C|p.Ala456Ala|1451/3957|1368/3636|456/1211||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1368G>C|p.Ala456Ala|1451/3819|1368/3498|456/1165||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1308G>C|p.Ala436Ala|1528/3942|1308/3498|436/1165|| 22 50555696 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1370G>A|p.Arg457His|1453/3957|1370/3636|457/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1370G>A|p.Arg457His|1453/3819|1370/3498|457/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1310G>A|p.Arg437His|1530/3942|1310/3498|437/1165|| 22 50555697 . C A . . ANN=A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1371C>A|p.Arg457Arg|1454/3957|1371/3636|457/1211||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1371C>A|p.Arg457Arg|1454/3819|1371/3498|457/1165||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1311C>A|p.Arg437Arg|1531/3942|1311/3498|437/1165|| 22 50555704 . T C . . ANN=C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1378T>C|p.Phe460Leu|1461/3957|1378/3636|460/1211||,C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1378T>C|p.Phe460Leu|1461/3819|1378/3498|460/1165||,C|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1318T>C|p.Phe440Leu|1538/3942|1318/3498|440/1165|| 22 50555746 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1420G>A|p.Ala474Thr|1503/3957|1420/3636|474/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1420G>A|p.Ala474Thr|1503/3819|1420/3498|474/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1360G>A|p.Ala454Thr|1580/3942|1360/3498|454/1165|| 22 50555777 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/27|c.1451A>G|p.Lys484Arg|1534/3957|1451/3636|484/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/26|c.1451A>G|p.Lys484Arg|1534/3819|1451/3498|484/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/26|c.1391A>G|p.Lys464Arg|1611/3942|1391/3498|464/1165|| 22 50555825 . T A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/26|c.1454+45T>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/25|c.1454+45T>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/25|c.1394+45T>A|||||| 22 50558924 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|9/26|c.1455-7T>G||||||,G|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|9/25|c.1455-7T>G||||||,G|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|9/25|c.1395-7T>G|||||| 22 50558941 . C T . . ANN=T|stop_gained|HIGH|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|10/27|c.1465C>T|p.Arg489*|1548/3957|1465/3636|489/1211||,T|stop_gained|HIGH|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|10/26|c.1465C>T|p.Arg489*|1548/3819|1465/3498|489/1165||,T|stop_gained|HIGH|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|10/26|c.1405C>T|p.Arg469*|1625/3942|1405/3498|469/1165||;LOF=(MOV10L1|MOV10L1|4|0.75);NMD=(MOV10L1|MOV10L1|4|0.75) 22 50558946 . A G . . ANN=G|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|10/27|c.1470A>G|p.Gln490Gln|1553/3957|1470/3636|490/1211||,G|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|10/26|c.1470A>G|p.Gln490Gln|1553/3819|1470/3498|490/1165||,G|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|10/26|c.1410A>G|p.Gln470Gln|1630/3942|1410/3498|470/1165|| 22 50559021 . G A . . ANN=A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|10/27|c.1545G>A|p.Leu515Leu|1628/3957|1545/3636|515/1211||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|10/26|c.1545G>A|p.Leu515Leu|1628/3819|1545/3498|515/1165||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|10/26|c.1485G>A|p.Leu495Leu|1705/3942|1485/3498|495/1165|| 22 50559055 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|10/26|c.1569+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|10/25|c.1569+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|10/25|c.1509+10G>A|||||| 22 50563972 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|11/27|c.1721C>T|p.Ala574Val|1804/3957|1721/3636|574/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|11/26|c.1721C>T|p.Ala574Val|1804/3819|1721/3498|574/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|11/26|c.1661C>T|p.Ala554Val|1881/3942|1661/3498|554/1165|| 22 50564583 . T A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|11/26|c.1748-48T>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|11/25|c.1748-48T>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|11/25|c.1688-48T>A|||||| 22 50564618 . A AT . . ANN=AT|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|11/26|c.1748-13_1748-12insT||||||,AT|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|11/25|c.1748-13_1748-12insT||||||,AT|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|11/25|c.1688-13_1688-12insT|||||| 22 50564738 . A G . . ANN=G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|12/26|c.1818+37A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|12/25|c.1818+37A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|12/25|c.1758+37A>G|||||| 22 50564750 . C A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|12/26|c.1818+49C>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|12/25|c.1818+49C>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|12/25|c.1758+49C>A|||||| 22 50566807 . T C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|12/26|c.1819-38T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|12/25|c.1819-38T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|12/25|c.1759-38T>C|||||| 22 50566835 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|12/26|c.1819-10C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|12/25|c.1819-10C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|12/25|c.1759-10C>T|||||| 22 50566849 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|13/27|c.1823A>G|p.His608Arg|1906/3957|1823/3636|608/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|13/26|c.1823A>G|p.His608Arg|1906/3819|1823/3498|608/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|13/26|c.1763A>G|p.His588Arg|1983/3942|1763/3498|588/1165|| 22 50566950 . T G . . ANN=G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|13/26|c.1910+14T>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|13/25|c.1910+14T>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|13/25|c.1850+14T>G|||||| 22 50566969 . CTTTTTTTTTTT C,CTTTTTTTTT . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|13/26|c.1910+34_1910+44delTTTTTTTTTTT||||||,CTTTTTTTTT|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|13/26|c.1910+43_1910+44delTT||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|13/25|c.1910+34_1910+44delTTTTTTTTTTT||||||,CTTTTTTTTT|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|13/25|c.1910+43_1910+44delTT||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|13/25|c.1850+34_1850+44delTTTTTTTTTTT||||||,CTTTTTTTTT|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|13/25|c.1850+43_1850+44delTT|||||| 22 50572406 . A G . . ANN=G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|13/26|c.1911-30A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|13/25|c.1911-30A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|13/25|c.1851-30A>G|||||| 22 50572473 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|14/27|c.1948G>A|p.Val650Ile|2031/3957|1948/3636|650/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|14/26|c.1948G>A|p.Val650Ile|2031/3819|1948/3498|650/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|14/26|c.1888G>A|p.Val630Ile|2108/3942|1888/3498|630/1165|| 22 50572517 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|14/26|c.1969+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|14/25|c.1969+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|14/25|c.1909+23G>A|||||| 22 50572542 . T C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|14/26|c.1969+48T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|14/25|c.1969+48T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|14/25|c.1909+48T>C|||||| 22 50572915 . CT C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|14/26|c.1970-43delT||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|14/25|c.1970-43delT||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|14/25|c.1910-43delT|||||| 22 50573036 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|15/27|c.2047A>G|p.Ser683Gly|2130/3957|2047/3636|683/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|15/26|c.2047A>G|p.Ser683Gly|2130/3819|2047/3498|683/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|15/26|c.1987A>G|p.Ser663Gly|2207/3942|1987/3498|663/1165|| 22 50573081 . T G . . ANN=G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|15/26|c.2070+22T>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|15/25|c.2070+22T>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|15/25|c.2010+22T>G|||||| 22 50573090 . C G . . ANN=G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|15/26|c.2070+31C>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|15/25|c.2070+31C>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|15/25|c.2010+31C>G|||||| 22 50573106 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|15/26|c.2070+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|15/25|c.2070+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|15/25|c.2010+47G>A|||||| 22 50580542 . T A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|16/27|c.2103T>A|p.His701Gln|2186/3957|2103/3636|701/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|16/26|c.2103T>A|p.His701Gln|2186/3819|2103/3498|701/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|16/26|c.2043T>A|p.His681Gln|2263/3942|2043/3498|681/1165|| 22 50580611 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|16/27|c.2172C>T|p.Ser724Ser|2255/3957|2172/3636|724/1211||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|16/26|c.2172C>T|p.Ser724Ser|2255/3819|2172/3498|724/1165||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|16/26|c.2112C>T|p.Ser704Ser|2332/3942|2112/3498|704/1165|| 22 50580660 . CTG C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|16/26|c.2179+43_2179+44delTG||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|16/25|c.2179+43_2179+44delTG||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|16/25|c.2119+43_2119+44delTG|||||| 22 50580665 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|16/26|c.2179+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|16/25|c.2179+47G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|16/25|c.2119+47G>A|||||| 22 50580668 . T C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|16/26|c.2179+50T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|16/25|c.2179+50T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|16/25|c.2119+50T>C|||||| 22 50582482 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|17/26|c.2359-44G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|17/25|c.2359-44G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|17/25|c.2299-44G>A|||||| 22 50582550 . C A . . ANN=A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|18/27|c.2383C>A|p.Arg795Arg|2466/3957|2383/3636|795/1211||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|18/26|c.2383C>A|p.Arg795Arg|2466/3819|2383/3498|795/1165||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|18/26|c.2323C>A|p.Arg775Arg|2543/3942|2323/3498|775/1165|| 22 50582583 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|18/27|c.2416G>A|p.Ala806Thr|2499/3957|2416/3636|806/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|18/26|c.2416G>A|p.Ala806Thr|2499/3819|2416/3498|806/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|18/26|c.2356G>A|p.Ala786Thr|2576/3942|2356/3498|786/1165|| 22 50582626 . A G . . ANN=G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|18/27|c.2459A>G|p.Gln820Arg|2542/3957|2459/3636|820/1211||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|18/26|c.2459A>G|p.Gln820Arg|2542/3819|2459/3498|820/1165||,G|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|18/26|c.2399A>G|p.Gln800Arg|2619/3942|2399/3498|800/1165|| 22 50582630 . G A . . ANN=A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|18/27|c.2463G>A|p.Pro821Pro|2546/3957|2463/3636|821/1211||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|18/26|c.2463G>A|p.Pro821Pro|2546/3819|2463/3498|821/1165||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|18/26|c.2403G>A|p.Pro801Pro|2623/3942|2403/3498|801/1165|| 22 50582643 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|18/27|c.2476C>T|p.Arg826Trp|2559/3957|2476/3636|826/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|18/26|c.2476C>T|p.Arg826Trp|2559/3819|2476/3498|826/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|18/26|c.2416C>T|p.Arg806Trp|2636/3942|2416/3498|806/1165|| 22 50584123 . T C . . ANN=C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/27|c.2511T>C|p.Val837Val|2594/3957|2511/3636|837/1211||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/26|c.2511T>C|p.Val837Val|2594/3819|2511/3498|837/1165||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/26|c.2451T>C|p.Val817Val|2671/3942|2451/3498|817/1165|| 22 50584130 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/27|c.2518G>A|p.Ala840Thr|2601/3957|2518/3636|840/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/26|c.2518G>A|p.Ala840Thr|2601/3819|2518/3498|840/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/26|c.2458G>A|p.Ala820Thr|2678/3942|2458/3498|820/1165|| 22 50584201 . A C . . ANN=C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/27|c.2589A>C|p.Thr863Thr|2672/3957|2589/3636|863/1211||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/26|c.2589A>C|p.Thr863Thr|2672/3819|2589/3498|863/1165||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/26|c.2529A>C|p.Thr843Thr|2749/3942|2529/3498|843/1165|| 22 50584248 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/26|c.2627+9C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/25|c.2627+9C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/25|c.2567+9C>T|||||| 22 50584261 . C A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/26|c.2627+22C>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/25|c.2627+22C>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/25|c.2567+22C>A|||||| 22 50584262 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/26|c.2627+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/25|c.2627+23G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/25|c.2567+23G>A|||||| 22 50584279 . G C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/26|c.2627+40G>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/25|c.2627+40G>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/25|c.2567+40G>C|||||| 22 50584288 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/26|c.2627+49C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/25|c.2627+49C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/25|c.2567+49C>T|||||| 22 50588026 . A G . . ANN=G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|19/26|c.2628-18A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|19/25|c.2628-18A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|19/25|c.2568-18A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|1/8|c.9-18A>G|||||| 22 50588131 . C T . . ANN=T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|20/27|c.2715C>T|p.Asp905Asp|2798/3957|2715/3636|905/1211||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|20/26|c.2715C>T|p.Asp905Asp|2798/3819|2715/3498|905/1165||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|20/26|c.2655C>T|p.Asp885Asp|2875/3942|2655/3498|885/1165||,T|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|2/9|c.96C>T|p.Asp32Asp|183/1342|96/1017|32/338|| 22 50588153 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|20/26|c.2727+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|20/25|c.2727+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|20/25|c.2667+10G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|2/8|c.108+10G>A|||||| 22 50588163 . T C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|20/26|c.2727+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|20/25|c.2727+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|20/25|c.2667+20T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|2/8|c.108+20T>C|||||| 22 50588184 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|20/26|c.2727+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|20/25|c.2727+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|20/25|c.2667+41C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|2/8|c.108+41C>T|||||| 22 50589161 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|20/26|c.2728-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|20/25|c.2728-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|20/25|c.2668-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|2/8|c.109-3C>T|||||| 22 50589174 . C T . . ANN=T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|21/27|c.2738C>T|p.Ala913Val|2821/3957|2738/3636|913/1211||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|21/26|c.2738C>T|p.Ala913Val|2821/3819|2738/3498|913/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|21/26|c.2678C>T|p.Ala893Val|2898/3942|2678/3498|893/1165||,T|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|3/9|c.119C>T|p.Ala40Val|206/1342|119/1017|40/338|| 22 50589196 . C A . . ANN=A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|21/27|c.2760C>A|p.Gly920Gly|2843/3957|2760/3636|920/1211||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|21/26|c.2760C>A|p.Gly920Gly|2843/3819|2760/3498|920/1165||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|21/26|c.2700C>A|p.Gly900Gly|2920/3942|2700/3498|900/1165||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|3/9|c.141C>A|p.Gly47Gly|228/1342|141/1017|47/338|| 22 50591455 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|21/26|c.2893-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|21/25|c.2893-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|21/25|c.2833-19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|3/8|c.274-19C>T|||||| 22 50591459 . A G . . ANN=G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|21/26|c.2893-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|21/25|c.2893-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|21/25|c.2833-15A>G||||||,G|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|3/8|c.274-15A>G|||||| 22 50591469 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|21/26|c.2893-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|21/25|c.2893-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|21/25|c.2833-5C>T||||||,T|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|3/8|c.274-5C>T|||||| 22 50591470 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|21/26|c.2893-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|21/25|c.2893-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|21/25|c.2833-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|3/8|c.274-4G>A|||||| 22 50591521 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|22/27|c.2940G>A|p.Met980Ile|3023/3957|2940/3636|980/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|22/26|c.2940G>A|p.Met980Ile|3023/3819|2940/3498|980/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|22/26|c.2880G>A|p.Met960Ile|3100/3942|2880/3498|960/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|4/9|c.321G>A|p.Met107Ile|408/1342|321/1017|107/338|| 22 50591566 . G A . . ANN=A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|22/27|c.2985G>A|p.Ala995Ala|3068/3957|2985/3636|995/1211||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|22/26|c.2985G>A|p.Ala995Ala|3068/3819|2985/3498|995/1165||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|22/26|c.2925G>A|p.Ala975Ala|3145/3942|2925/3498|975/1165||,A|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|4/9|c.366G>A|p.Ala122Ala|453/1342|366/1017|122/338|| 22 50591668 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|22/26|c.3066+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|22/25|c.3066+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|22/25|c.3006+21G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|4/8|c.447+21G>A|||||| 22 50591677 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|22/26|c.3066+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|22/25|c.3066+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|22/25|c.3006+30C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|4/8|c.447+30C>T|||||| 22 50591678 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|22/26|c.3066+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|22/25|c.3066+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|22/25|c.3006+31G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|4/8|c.447+31G>A|||||| 22 50591683 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|22/26|c.3066+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|22/25|c.3066+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|22/25|c.3006+36G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|4/8|c.447+36G>A|||||| 22 50596612 . G A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|23/27|c.3193G>A|p.Val1065Ile|3276/3957|3193/3636|1065/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|23/26|c.3193G>A|p.Val1065Ile|3276/3819|3193/3498|1065/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|23/26|c.3133G>A|p.Val1045Ile|3353/3942|3133/3498|1045/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|5/9|c.574G>A|p.Val192Ile|661/1342|574/1017|192/338|| 22 50596651 . G T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|23/26|c.3216+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|23/25|c.3216+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|23/25|c.3156+16G>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|5/8|c.597+16G>T|||||| 22 50596655 . G A . . ANN=A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|23/26|c.3216+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|23/25|c.3216+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|23/25|c.3156+20G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|5/8|c.597+20G>A|||||| 22 50598109 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|24/27|c.3219G>A|p.Val1073Val|3302/3957|3219/3636|1073/1211||,A|splice_region_variant&synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|24/26|c.3219G>A|p.Val1073Val|3302/3819|3219/3498|1073/1165||,A|splice_region_variant&synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|24/26|c.3159G>A|p.Val1053Val|3379/3942|3159/3498|1053/1165||,A|splice_region_variant&synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|6/9|c.600G>A|p.Val200Val|687/1342|600/1017|200/338|| 22 50598136 . T C . . ANN=C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|24/27|c.3246T>C|p.Asn1082Asn|3329/3957|3246/3636|1082/1211||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|24/26|c.3246T>C|p.Asn1082Asn|3329/3819|3246/3498|1082/1165||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|24/26|c.3186T>C|p.Asn1062Asn|3406/3942|3186/3498|1062/1165||,C|synonymous_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|6/9|c.627T>C|p.Asn209Asn|714/1342|627/1017|209/338|| 22 50598233 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|24/26|c.3324+19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|24/25|c.3324+19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|24/25|c.3264+19C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|6/8|c.705+19C>T|||||| 22 50599111 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|24/26|c.3325-6T>C||||||,C|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|24/25|c.3265-6T>C||||||,C|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|6/8|c.706-6T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|24/25|c.3325-282T>C|||||| 22 50599253 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|25/27|c.3461G>A|p.Arg1154Gln|3544/3957|3461/3636|1154/1211||,A|missense_variant&splice_region_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|25/26|c.3401G>A|p.Arg1134Gln|3621/3942|3401/3498|1134/1165||,A|missense_variant&splice_region_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|7/9|c.842G>A|p.Arg281Gln|929/1342|842/1017|281/338||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|24/25|c.3325-140G>A|||||| 22 50599344 . A T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|25/26|c.3463-49A>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|24/25|c.3325-49A>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|25/25|c.3402+90A>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|7/8|c.844-49A>T|||||| 22 50599383 . T C . . ANN=C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|25/26|c.3463-10T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|24/25|c.3325-10T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|25/25|c.3402+129T>C||||||,C|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|7/8|c.844-10T>C|||||| 22 50599466 . C A . . ANN=A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|26/27|c.3536C>A|p.Ala1179Glu|3619/3957|3536/3636|1179/1211||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|25/26|c.3398C>A|p.Ala1133Glu|3481/3819|3398/3498|1133/1165||,A|missense_variant|MODERATE|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|8/9|c.917C>A|p.Ala306Glu|1004/1342|917/1017|306/338||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|25/25|c.3402+212C>A|||||| 22 50599491 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|26/26|c.3554+7G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|25/25|c.3416+7G>A||||||,A|splice_region_variant&intron_variant|LOW|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|8/8|c.935+7G>A||||||,A|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|25/25|c.3402+237G>A|||||| 22 50599777 . C T . . ANN=T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_018995.2|Coding|26/26|c.3555-20C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164104.1|Coding|25/25|c.3417-20C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164105.1|Coding|25/25|c.3403-20C>T||||||,T|intron_variant|MODIFIER|MOV10L1|MOV10L1|transcript|NM_001164106.1|Coding|8/8|c.936-20C>T|||||| 22 50609407 . C A . . ANN=A|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_052839.3|Coding|1/2|c.226+22C>A||||||,A|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|1/3|c.226+22C>A||||||,A|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|1/4|n.226+22C>A|||||| 22 50615417 . G A . . ANN=A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.276G>A|p.Ala92Ala|276/3052|276/2034|92/677||,A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.276G>A|p.Ala92Ala|276/2967|276/1932|92/643||,A|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.327G>A|||||| 22 50616005 . C G . . ANN=G|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.864C>G|p.Arg288Arg|864/3052|864/2034|288/677||,G|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.864C>G|p.Arg288Arg|864/2967|864/1932|288/643||,G|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.915C>G|||||| 22 50616122 . G A . . ANN=A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.981G>A|p.Lys327Lys|981/3052|981/2034|327/677||,A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.981G>A|p.Lys327Lys|981/2967|981/1932|327/643||,A|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1032G>A|||||| 22 50616215 . C A . . ANN=A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.1074C>A|p.Ile358Ile|1074/3052|1074/2034|358/677||,A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.1074C>A|p.Ile358Ile|1074/2967|1074/1932|358/643||,A|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1125C>A|||||| 22 50616224 . C G . . ANN=G|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.1083C>G|p.Leu361Leu|1083/3052|1083/2034|361/677||,G|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.1083C>G|p.Leu361Leu|1083/2967|1083/1932|361/643||,G|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1134C>G|||||| 22 50616266 . C T . . ANN=T|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.1125C>T|p.Tyr375Tyr|1125/3052|1125/2034|375/677||,T|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.1125C>T|p.Tyr375Tyr|1125/2967|1125/1932|375/643||,T|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1176C>T|||||| 22 50616322 . C A . . ANN=A|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.1181C>A|p.Thr394Asn|1181/3052|1181/2034|394/677||,A|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.1181C>A|p.Thr394Asn|1181/2967|1181/1932|394/643||,A|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1232C>A|||||| 22 50616386 . C T . . ANN=T|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.1245C>T|p.Asp415Asp|1245/3052|1245/2034|415/677||,T|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.1245C>T|p.Asp415Asp|1245/2967|1245/1932|415/643||,T|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1296C>T|||||| 22 50616646 . C A . . ANN=A|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.1505C>A|p.Pro502Gln|1505/3052|1505/2034|502/677||,A|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.1505C>A|p.Pro502Gln|1505/2967|1505/1932|502/643||,A|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1556C>A|||||| 22 50616656 . T C . . ANN=C|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.1515T>C|p.Pro505Pro|1515/3052|1515/2034|505/677||,C|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.1515T>C|p.Pro505Pro|1515/2967|1515/1932|505/643||,C|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1566T>C|||||| 22 50616806 . A G . . ANN=G|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/3|c.1665A>G|p.Leu555Leu|1665/3052|1665/2034|555/677||,G|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/4|c.1665A>G|p.Leu555Leu|1665/2967|1665/1932|555/643||,G|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/5|n.1716A>G|||||| 22 50616841 . G C . . ANN=C|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_052839.3|Coding|2/2|c.1690+10G>C||||||,C|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/3|c.1690+10G>C||||||,C|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/4|n.1741+10G>C|||||| 22 50616851 . G C . . ANN=C|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_052839.3|Coding|2/2|c.1690+20G>C||||||,C|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/3|c.1690+20G>C||||||,C|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/4|n.1741+20G>C|||||| 22 50617355 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|2/2|c.1691-8G>A||||||,A|splice_region_variant&intron_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|2/3|c.1691-8G>A||||||,A|splice_region_variant&intron_variant|LOW|PANX2|PANX2|transcript|NR_027691.1|Noncoding|3/4|n.1742-8G>A|||||| 22 50617443 . G A . . ANN=A|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1771G>A|p.Val591Ile|1771/3052|1771/2034|591/677||,A|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_001160300.1|Coding|3/4|c.1771G>A|p.Val591Ile|1771/2967|1771/1932|591/643||,A|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|4/5|n.1822G>A|||||| 22 50617544 . G A . . ANN=A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1872G>A|p.Pro624Pro|1872/3052|1872/2034|624/677||,A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|3/4|c.1872G>A|p.Pro624Pro|1872/2967|1872/1932|624/643||,A|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|4/5|n.1923G>A|||||| 22 50617574 . C A . . ANN=A|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1902C>A|p.Ala634Ala|1902/3052|1902/2034|634/677||,A|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|3/3|c.1892+10C>A||||||,A|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|4/4|n.1943+10C>A|||||| 22 50617589 . C T . . ANN=T|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1917C>T|p.Asp639Asp|1917/3052|1917/2034|639/677||,T|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|3/3|c.1892+25C>T||||||,T|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|4/4|n.1943+25C>T|||||| 22 50617595 . C T . . ANN=T|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1923C>T|p.Gly641Gly|1923/3052|1923/2034|641/677||,T|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|3/3|c.1892+31C>T||||||,T|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|4/4|n.1943+31C>T|||||| 22 50617599 . C T . . ANN=T|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1927C>T|p.Arg643Cys|1927/3052|1927/2034|643/677||,T|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|3/3|c.1892+35C>T||||||,T|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|4/4|n.1943+35C>T|||||| 22 50617606 . C T . . ANN=T|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1934C>T|p.Pro645Leu|1934/3052|1934/2034|645/677||,T|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|3/3|c.1892+42C>T||||||,T|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|4/4|n.1943+42C>T|||||| 22 50617618 . G A . . ANN=A|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1946G>A|p.Gly649Glu|1946/3052|1946/2034|649/677||,A|intron_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|3/3|c.1893-32G>A||||||,A|intron_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|4/4|n.1944-32G>A|||||| 22 50617653 . C T . . ANN=T|missense_variant|MODERATE|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.1981C>T|p.Leu661Phe|1981/3052|1981/2034|661/677||,T|synonymous_variant|LOW|PANX2|PANX2|transcript|NM_001160300.1|Coding|4/4|c.1896C>T|p.Ser632Ser|1896/2967|1896/1932|632/643||,T|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|5/5|n.1947C>T|||||| 22 50617717 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.*11C>T|||||11|,T|3_prime_UTR_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|4/4|c.*28C>T|||||28|,T|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|5/5|n.2011C>T|||||| 22 50617726 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.*20C>T|||||20|,T|3_prime_UTR_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|4/4|c.*37C>T|||||37|,T|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|5/5|n.2020C>T|||||| 22 50617738 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|PANX2|PANX2|transcript|NM_052839.3|Coding|3/3|c.*32C>T|||||32|,T|3_prime_UTR_variant|MODIFIER|PANX2|PANX2|transcript|NM_001160300.1|Coding|4/4|c.*49C>T|||||49|,T|non_coding_exon_variant|MODIFIER|PANX2|PANX2|transcript|NR_027691.1|Noncoding|5/5|n.2032C>T|||||| 22 50631562 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|2/9|c.33+40G>A|||||| 22 50631963 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|2/9|c.34-42G>A|||||| 22 50632028 . G A . . ANN=A|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|3/10|c.57G>A|p.Pro19Pro|162/2315|57/1131|19/376|| 22 50632110 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|3/9|c.112+27G>A|||||| 22 50632116 . C T . . ANN=T|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|3/9|c.112+33C>T|||||| 22 50632117 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|3/9|c.112+34G>A|||||| 22 50632771 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TRABD|TRABD|transcript|NM_025204.2|Coding|4/10|c.115G>A|p.Asp39Asn|220/2315|115/1131|39/376|| 22 50632820 . G A . . ANN=A|missense_variant|MODERATE|TRABD|TRABD|transcript|NM_025204.2|Coding|4/10|c.164G>A|p.Arg55His|269/2315|164/1131|55/376|| 22 50632839 . G A . . ANN=A|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|4/10|c.183G>A|p.Pro61Pro|288/2315|183/1131|61/376|| 22 50632841 . G A . . ANN=A|missense_variant|MODERATE|TRABD|TRABD|transcript|NM_025204.2|Coding|4/10|c.185G>A|p.Arg62His|290/2315|185/1131|62/376|| 22 50632869 . C T . . ANN=T|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|4/10|c.213C>T|p.Asp71Asp|318/2315|213/1131|71/376|| 22 50632963 . G T . . ANN=T|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|4/9|c.279+28G>T|||||| 22 50632964 . A T . . ANN=T|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|4/9|c.279+29A>T|||||| 22 50633291 . C T . . ANN=T|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|4/9|c.280-38C>T|||||| 22 50633358 . G A . . ANN=A|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|5/10|c.309G>A|p.Val103Val|414/2315|309/1131|103/376|| 22 50633382 . T C . . ANN=C|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|5/10|c.333T>C|p.Arg111Arg|438/2315|333/1131|111/376|| 22 50633394 . G A . . ANN=A|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|5/10|c.345G>A|p.Leu115Leu|450/2315|345/1131|115/376|| 22 50633436 . C T . . ANN=T|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|5/10|c.387C>T|p.Leu129Leu|492/2315|387/1131|129/376|| 22 50633490 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|5/9|c.420+21G>A|||||| 22 50635627 . C T . . ANN=T|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|5/9|c.421-43C>T|||||| 22 50635628 . G C . . ANN=C|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|5/9|c.421-42G>C|||||| 22 50635629 . C G . . ANN=G|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|5/9|c.421-41C>G|||||| 22 50635634 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|5/9|c.421-36G>A|||||| 22 50635714 . G C . . ANN=C|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|6/10|c.465G>C|p.Val155Val|570/2315|465/1131|155/376|| 22 50635729 . C T . . ANN=T|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|6/10|c.480C>T|p.Thr160Thr|585/2315|480/1131|160/376|| 22 50635795 . A G . . ANN=G|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|6/9|c.531+15A>G|||||| 22 50635831 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|6/9|c.532-47G>A|||||| 22 50635848 . C G . . ANN=G|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|6/9|c.532-30C>G|||||| 22 50635892 . T A . . ANN=A|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|7/10|c.546T>A|p.Pro182Pro|651/2315|546/1131|182/376|| 22 50635949 . C T . . ANN=T|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|7/10|c.603C>T|p.Ile201Ile|708/2315|603/1131|201/376|| 22 50636058 . T C . . ANN=C|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|7/9|c.671+41T>C|||||| 22 50636211 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|7/9|c.672-41G>A|||||| 22 50636238 . A G . . ANN=G|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|7/9|c.672-14A>G|||||| 22 50636357 . C T . . ANN=T|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|8/10|c.777C>T|p.Arg259Arg|882/2315|777/1131|259/376|| 22 50636391 . G A . . ANN=A|missense_variant|MODERATE|TRABD|TRABD|transcript|NM_025204.2|Coding|8/10|c.811G>A|p.Ala271Thr|916/2315|811/1131|271/376|| 22 50636429 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|8/9|c.844+5C>T|||||| 22 50636514 . G A . . ANN=A|synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|9/10|c.855G>A|p.Arg285Arg|960/2315|855/1131|285/376|| 22 50636731 . G A . . ANN=A|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|9/9|c.957-43G>A|||||| 22 50636755 . C T . . ANN=T|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|9/9|c.957-19C>T|||||| 22 50636760 . C T . . ANN=T|intron_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|9/9|c.957-14C>T|||||| 22 50636770 . A T . . ANN=T|splice_region_variant&intron_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|9/9|c.957-4A>T|||||| 22 50636774 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|TRABD|TRABD|transcript|NM_025204.2|Coding|10/10|c.957C>T|p.Thr319Thr|1062/2315|957/1131|319/376|| 22 50636962 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|10/10|c.*14G>A|||||14| 22 50636965 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|TRABD|TRABD|transcript|NM_025204.2|Coding|10/10|c.*17C>T|||||17| 22 50639473 . T C . . ANN=C|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|1/9|c.8T>C|p.Val3Ala|66/2315|8/2010|3/669|| 22 50639528 . T C . . ANN=C|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|1/9|c.63T>C|p.Gly21Gly|121/2315|63/2010|21/669|| 22 50639636 . C G . . ANN=G|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|1/9|c.171C>G|p.Ala57Ala|229/2315|171/2010|57/669|| 22 50639778 . T C . . ANN=C|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|1/9|c.313T>C|p.Leu105Leu|371/2315|313/2010|105/669|| 22 50639965 . C A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|1/9|c.500C>A|p.Thr167Asn|558/2315|500/2010|167/669|| 22 50644711 . C G . . ANN=G|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|1/8|c.555-35C>G|||||| 22 50644807 . A G . . ANN=G|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|2/9|c.616A>G|p.Met206Val|674/2315|616/2010|206/669|| 22 50644812 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|2/9|c.621C>T|p.Phe207Phe|679/2315|621/2010|207/669|| 22 50644858 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|2/9|c.667G>A|p.Glu223Lys|725/2315|667/2010|223/669|| 22 50644957 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|2/8|c.758+8C>T|||||| 22 50644960 . G C . . ANN=C|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|2/8|c.758+11G>C|||||| 22 50644969 . G A . . ANN=A|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|2/8|c.758+20G>A|||||| 22 50646936 . G C . . ANN=C|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|2/8|c.759-29G>C|||||| 22 50646998 . T C . . ANN=C|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|3/9|c.792T>C|p.Asp264Asp|850/2315|792/2010|264/669|| 22 50647038 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|3/9|c.832G>A|p.Asp278Asn|890/2315|832/2010|278/669|| 22 50647085 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|3/9|c.879C>T|p.Pro293Pro|937/2315|879/2010|293/669|| 22 50647086 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|3/9|c.880G>A|p.Glu294Lys|938/2315|880/2010|294/669|| 22 50647098 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|3/9|c.892G>A|p.Ala298Thr|950/2315|892/2010|298/669|| 22 50647166 . C T . . ANN=T|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|3/8|c.939+21C>T|||||| 22 50647178 . G A . . ANN=A|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|3/8|c.939+33G>A|||||| 22 50648577 . C T . . ANN=T|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|3/8|c.940-33C>T|||||| 22 50648617 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|4/9|c.947G>A|p.Arg316Gln|1005/2315|947/2010|316/669|| 22 50648681 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|4/9|c.1011C>T|p.Thr337Thr|1069/2315|1011/2010|337/669|| 22 50648788 . G A . . ANN=A|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|4/8|c.1070+48G>A|||||| 22 50648789 . T C . . ANN=C|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|4/8|c.1070+49T>C|||||| 22 50649011 . C T . . ANN=T|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|4/8|c.1071-49C>T|||||| 22 50649034 . C T . . ANN=T|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|4/8|c.1071-26C>T|||||| 22 50649103 . C T . . ANN=T|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|5/9|c.1114C>T|p.Arg372Cys|1172/2315|1114/2010|372/669|| 22 50649104 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|5/9|c.1115G>A|p.Arg372His|1173/2315|1115/2010|372/669|| 22 50649120 . G T . . ANN=T|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|5/9|c.1131G>T|p.Lys377Asn|1189/2315|1131/2010|377/669|| 22 50649126 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|5/9|c.1137C>T|p.Pro379Pro|1195/2315|1137/2010|379/669|| 22 50649210 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|5/9|c.1221C>T|p.Ala407Ala|1279/2315|1221/2010|407/669|| 22 50649211 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|5/9|c.1222G>A|p.Glu408Lys|1280/2315|1222/2010|408/669|| 22 50649223 . G C . . ANN=C|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|5/9|c.1234G>C|p.Ala412Pro|1292/2315|1234/2010|412/669|| 22 50649297 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|5/9|c.1308C>T|p.Asp436Asp|1366/2315|1308/2010|436/669|| 22 50649355 . C T . . ANN=T|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|5/8|c.1351+15C>T|||||| 22 50654153 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|6/9|c.1359C>T|p.Asp453Asp|1417/2315|1359/2010|453/669|| 22 50654168 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|6/9|c.1374C>T|p.Phe458Phe|1432/2315|1374/2010|458/669|| 22 50654186 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|6/9|c.1392C>T|p.Phe464Phe|1450/2315|1392/2010|464/669|| 22 50654198 . A G . . ANN=G|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|6/9|c.1404A>G|p.Leu468Leu|1462/2315|1404/2010|468/669|| 22 50654204 . G A . . ANN=A|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|6/9|c.1410G>A|p.Ser470Ser|1468/2315|1410/2010|470/669|| 22 50654253 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|6/9|c.1459C>T|p.Leu487Leu|1517/2315|1459/2010|487/669|| 22 50654305 . T C . . ANN=C|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|6/8|c.1502+9T>C|||||| 22 50654328 . G A . . ANN=A|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|6/8|c.1502+32G>A|||||| 22 50655098 . A G . . ANN=G|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|6/8|c.1503-22A>G|||||| 22 50655320 . C T . . ANN=T|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|7/8|c.1688+15C>T|||||| 22 50655329 . C T . . ANN=T|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|7/8|c.1688+24C>T|||||| 22 50655344 . C T . . ANN=T|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|7/8|c.1688+39C>T|||||| 22 50655355 . A G . . ANN=G|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|7/8|c.1689-46A>G|||||| 22 50655370 . C A . . ANN=A|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|7/8|c.1689-31C>A|||||| 22 50655376 . CTCCAGAGCCCGGATGTCAT C . . ANN=C|splice_region_variant&intron_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|7/8|c.1689-24_1689-6delTCCAGAGCCCGGATGTCAT|||||| 22 50655397 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|7/8|c.1689-4C>T|||||| 22 50655468 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|8/9|c.1756G>A|p.Val586Met|1814/2315|1756/2010|586/669|| 22 50655488 . G A . . ANN=A|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|8/9|c.1776G>A|p.Pro592Pro|1834/2315|1776/2010|592/669|| 22 50655528 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|8/9|c.1816G>A|p.Glu606Lys|1874/2315|1816/2010|606/669|| 22 50655543 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|8/9|c.1831G>A|p.Gly611Arg|1889/2315|1831/2010|611/669|| 22 50655590 . A AG . . ANN=AG|intron_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|8/8|c.1845+33_1845+34insG|||||| 22 50655628 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|8/8|c.1846-6C>T|||||| 22 50655669 . C T . . ANN=T|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.1881C>T|p.Tyr627Tyr|1939/2315|1881/2010|627/669|| 22 50655676 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.1888G>A|p.Glu630Lys|1946/2315|1888/2010|630/669|| 22 50655700 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.1912G>A|p.Glu638Lys|1970/2315|1912/2010|638/669|| 22 50655722 . C T . . ANN=T|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.1934C>T|p.Ala645Val|1992/2315|1934/2010|645/669|| 22 50655723 . G A . . ANN=A|synonymous_variant|LOW|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.1935G>A|p.Ala645Ala|1993/2315|1935/2010|645/669|| 22 50655736 . C T . . ANN=T|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.1948C>T|p.Arg650Cys|2006/2315|1948/2010|650/669|| 22 50655758 . C T . . ANN=T|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.1970C>T|p.Pro657Leu|2028/2315|1970/2010|657/669|| 22 50655781 . G A . . ANN=A|missense_variant|MODERATE|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.1993G>A|p.Val665Met|2051/2315|1993/2010|665/669|| 22 50655799 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.*1C>T|||||1| 22 50655815 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.*17C>T|||||17| 22 50655822 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|SELO|SELO|transcript|NM_031454.1|Coding|9/9|c.*24C>T|||||24| 22 50656126 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|25/25|c.*39C>T|||||39| 22 50656147 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|25/25|c.*18C>T|||||18| 22 50656192 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|25/25|c.5433C>T|p.Asn1811Asn|5945/6019|5433/5460|1811/1819|| 22 50656247 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|25/25|c.5378A>G|p.Lys1793Arg|5890/6019|5378/5460|1793/1819|| 22 50656262 . G GA . . ANN=GA|splice_region_variant&intron_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/24|c.5369-7_5369-6insT|||||| 22 50656269 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/24|c.5369-13C>T|||||| 22 50656317 . C G . . ANN=G|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/24|c.5368+30G>C|||||| 22 50656322 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/24|c.5368+25G>A|||||| 22 50656428 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/25|c.5287C>T|p.Arg1763Trp|5799/6019|5287/5460|1763/1819|| 22 50656429 . CGGGCCCCCAGG C . . ANN=C|frameshift_variant|HIGH|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/25|c.5275_5285delCCTGGGGGCCC|p.Pro1759fs|5797/6019|5275/5460|1759/1819|| 22 50656430 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/25|c.5285C>T|p.Pro1762Leu|5797/6019|5285/5460|1762/1819|| 22 50656461 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/25|c.5254A>G|p.Ile1752Val|5766/6019|5254/5460|1752/1819|| 22 50656534 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|24/25|c.5181G>A|p.Thr1727Thr|5693/6019|5181/5460|1727/1819|| 22 50656587 . C G . . ANN=G|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|23/24|c.5168+31G>C|||||| 22 50656647 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|23/25|c.5139C>T|p.His1713His|5651/6019|5139/5460|1713/1819|| 22 50656650 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|23/25|c.5136G>A|p.Ala1712Ala|5648/6019|5136/5460|1712/1819|| 22 50656734 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|23/25|c.5052C>T|p.Ile1684Ile|5564/6019|5052/5460|1684/1819|| 22 50656736 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|23/25|c.5050A>G|p.Ile1684Val|5562/6019|5050/5460|1684/1819|| 22 50656818 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|23/25|c.4968C>T|p.His1656His|5480/6019|4968/5460|1656/1819|| 22 50656897 . G GGGCTCCA . . ANN=GGGCTCCA|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|22/24|c.4954+19_4954+20insTGGAGCC|||||| 22 50656942 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|22/25|c.4929C>T|p.Asp1643Asp|5441/6019|4929/5460|1643/1819|| 22 50656951 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|22/25|c.4920G>A|p.Ala1640Ala|5432/6019|4920/5460|1640/1819|| 22 50657008 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|22/25|c.4863G>A|p.Val1621Val|5375/6019|4863/5460|1621/1819|| 22 50657010 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|22/25|c.4861G>C|p.Val1621Leu|5373/6019|4861/5460|1621/1819|| 22 50657112 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|21/24|c.4821+20G>A|||||| 22 50657118 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|21/24|c.4821+14C>T|||||| 22 50657189 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|21/25|c.4764C>T|p.Pro1588Pro|5276/6019|4764/5460|1588/1819|| 22 50657206 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|21/25|c.4747G>A|p.Ala1583Thr|5259/6019|4747/5460|1583/1819|| 22 50657207 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|21/25|c.4746C>T|p.Leu1582Leu|5258/6019|4746/5460|1582/1819|| 22 50657219 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|21/25|c.4734C>T|p.Ser1578Ser|5246/6019|4734/5460|1578/1819|| 22 50657225 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|21/25|c.4728C>T|p.His1576His|5240/6019|4728/5460|1576/1819|| 22 50657610 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|20/25|c.4513G>A|p.Asp1505Asn|5025/6019|4513/5460|1505/1819|| 22 50657611 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|20/25|c.4512C>T|p.Val1504Val|5024/6019|4512/5460|1504/1819|| 22 50657616 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|20/25|c.4507G>A|p.Ala1503Thr|5019/6019|4507/5460|1503/1819|| 22 50657708 . G T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|19/24|c.4484+9C>A|||||| 22 50657764 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|19/25|c.4437G>A|p.Thr1479Thr|4949/6019|4437/5460|1479/1819|| 22 50657803 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|19/25|c.4398C>T|p.Ala1466Ala|4910/6019|4398/5460|1466/1819|| 22 50657875 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|19/25|c.4326C>T|p.Pro1442Pro|4838/6019|4326/5460|1442/1819|| 22 50657884 . G T . . ANN=T|splice_region_variant&synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|19/25|c.4317C>A|p.Ser1439Ser|4829/6019|4317/5460|1439/1819|| 22 50658030 . A G . . ANN=G|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/24|c.4315+43T>C|||||| 22 50658033 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/24|c.4315+40G>A|||||| 22 50658035 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/24|c.4315+38C>T|||||| 22 50658045 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/24|c.4315+28G>A|||||| 22 50658053 . A G . . ANN=G|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/24|c.4315+20T>C|||||| 22 50658099 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/25|c.4289G>A|p.Arg1430Gln|4801/6019|4289/5460|1430/1819|| 22 50658116 . CCCTGCCAGG C . . ANN=C|disruptive_inframe_deletion|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/25|c.4263_4271delCCTGGCAGG|p.Leu1422_Gly1424del|4783/6019|4263/5460|1421/1819|| 22 50658161 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/25|c.4227G>A|p.Ala1409Ala|4739/6019|4227/5460|1409/1819|| 22 50658165 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/25|c.4223C>T|p.Ala1408Val|4735/6019|4223/5460|1408/1819|| 22 50658170 . T C . . ANN=C|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/25|c.4218A>G|p.Ala1406Ala|4730/6019|4218/5460|1406/1819|| 22 50658203 . C A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|18/25|c.4185G>T|p.Gln1395His|4697/6019|4185/5460|1395/1819|| 22 50658244 . C G . . ANN=G|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|17/24|c.4168-24G>C|||||| 22 50658253 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|17/24|c.4168-33G>A|||||| 22 50658260 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|17/24|c.4168-40G>A|||||| 22 50658261 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|17/24|c.4168-41C>T|||||| 22 50658339 . G C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|17/24|c.4167+47C>G|||||| 22 50658357 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|17/24|c.4167+29C>T|||||| 22 50658424 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|17/25|c.4129A>G|p.Thr1377Ala|4641/6019|4129/5460|1377/1819|| 22 50658430 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|17/25|c.4123G>A|p.Gly1375Arg|4635/6019|4123/5460|1375/1819|| 22 50658466 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/24|c.4109-22G>A|||||| 22 50658467 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/24|c.4109-23C>T|||||| 22 50658494 . C A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/24|c.4109-50G>T|||||| 22 50658640 . CCA C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/24|c.4108+38_4108+39delTG|||||| 22 50658686 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.4102G>A|p.Glu1368Lys|4614/6019|4102/5460|1368/1819|| 22 50658695 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.4093G>C|p.Val1365Leu|4605/6019|4093/5460|1365/1819|| 22 50658698 . T A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.4090A>T|p.Ser1364Cys|4602/6019|4090/5460|1364/1819|| 22 50658702 . TC T . . ANN=T|frameshift_variant|HIGH|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.4085delG|p.Gly1362fs|4597/6019|4085/5460|1362/1819||;LOF=(TUBGCP6|TUBGCP6|1|1.00) 22 50658847 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3941T>C|p.Val1314Ala|4453/6019|3941/5460|1314/1819|| 22 50658885 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3903G>A|p.Thr1301Thr|4415/6019|3903/5460|1301/1819|| 22 50658906 . T C . . ANN=C|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3882A>G|p.Gln1294Gln|4394/6019|3882/5460|1294/1819|| 22 50658966 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3822G>A|p.Pro1274Pro|4334/6019|3822/5460|1274/1819|| 22 50659033 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3755T>C|p.Leu1252Ser|4267/6019|3755/5460|1252/1819|| 22 50659056 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3732C>T|p.His1244His|4244/6019|3732/5460|1244/1819|| 22 50659082 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3706C>T|p.Arg1236Trp|4218/6019|3706/5460|1236/1819|| 22 50659094 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3694G>A|p.Val1232Met|4206/6019|3694/5460|1232/1819|| 22 50659095 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3693C>T|p.Asp1231Asp|4205/6019|3693/5460|1231/1819|| 22 50659275 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3513G>A|p.Leu1171Leu|4025/6019|3513/5460|1171/1819|| 22 50659292 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3496G>A|p.Asp1166Asn|4008/6019|3496/5460|1166/1819|| 22 50659298 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3490G>A|p.Val1164Met|4002/6019|3490/5460|1164/1819|| 22 50659329 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3459C>T|p.Pro1153Pro|3971/6019|3459/5460|1153/1819|| 22 50659341 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3447G>A|p.Ser1149Ser|3959/6019|3447/5460|1149/1819|| 22 50659347 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3441C>T|p.Asn1147Asn|3953/6019|3441/5460|1147/1819|| 22 50659380 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3408C>T|p.His1136His|3920/6019|3408/5460|1136/1819|| 22 50659386 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3402C>T|p.His1134His|3914/6019|3402/5460|1134/1819|| 22 50659452 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3336C>T|p.Asn1112Asn|3848/6019|3336/5460|1112/1819|| 22 50659481 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3307C>T|p.Arg1103Trp|3819/6019|3307/5460|1103/1819|| 22 50659548 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3240C>T|p.His1080His|3752/6019|3240/5460|1080/1819|| 22 50659595 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3193G>A|p.Glu1065Lys|3705/6019|3193/5460|1065/1819|| 22 50659598 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3190G>A|p.Gly1064Arg|3702/6019|3190/5460|1064/1819|| 22 50659599 . G C . . ANN=C|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3189C>G|p.Val1063Val|3701/6019|3189/5460|1063/1819|| 22 50659613 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3175G>A|p.Ala1059Thr|3687/6019|3175/5460|1059/1819|| 22 50659690 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3098G>A|p.Gly1033Asp|3610/6019|3098/5460|1033/1819|| 22 50659696 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3092G>C|p.Gly1031Ala|3604/6019|3092/5460|1031/1819|| 22 50659788 . C A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.3000G>T|p.Arg1000Arg|3512/6019|3000/5460|1000/1819|| 22 50659796 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2992G>A|p.Ala998Thr|3504/6019|2992/5460|998/1819|| 22 50659797 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2991C>T|p.Ser997Ser|3503/6019|2991/5460|997/1819|| 22 50659874 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2914G>C|p.Ala972Pro|3426/6019|2914/5460|972/1819|| 22 50660043 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2745C>T|p.Val915Val|3257/6019|2745/5460|915/1819|| 22 50660122 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2666C>T|p.Pro889Leu|3178/6019|2666/5460|889/1819|| 22 50660137 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2651C>T|p.Ala884Val|3163/6019|2651/5460|884/1819|| 22 50660176 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2612C>T|p.Pro871Leu|3124/6019|2612/5460|871/1819|| 22 50660214 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2574G>C|p.Trp858Cys|3086/6019|2574/5460|858/1819|| 22 50660296 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2492C>T|p.Ser831Phe|3004/6019|2492/5460|831/1819|| 22 50660298 . C G . . ANN=G|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2490G>C|p.Thr830Thr|3002/6019|2490/5460|830/1819|| 22 50660301 . G C . . ANN=C|splice_region_variant&synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|16/25|c.2487C>G|p.Val829Val|2999/6019|2487/5460|829/1819|| 22 50660341 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|15/24|c.2485-38C>T|||||| 22 50660437 . G T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|15/24|c.2484+20C>A|||||| 22 50660498 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|15/25|c.2443C>T|p.Pro815Ser|2955/6019|2443/5460|815/1819|| 22 50660581 . C A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|14/24|c.2410-50G>T|||||| 22 50660896 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|14/25|c.2396A>G|p.Glu799Gly|2908/6019|2396/5460|799/1819|| 22 50660972 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|14/25|c.2320C>T|p.Arg774Trp|2832/6019|2320/5460|774/1819|| 22 50661058 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|13/24|c.2271-37C>T|||||| 22 50662531 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|13/24|c.2270+39G>A|||||| 22 50662558 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|13/24|c.2270+12C>T|||||| 22 50662586 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|13/25|c.2254C>T|p.Leu752Leu|2766/6019|2254/5460|752/1819|| 22 50662705 . T C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|12/24|c.2155-20A>G|||||| 22 50662731 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|12/24|c.2154+30G>A|||||| 22 50662860 . A G . . ANN=G|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|11/24|c.2066-11T>C|||||| 22 50662895 . C CA . . ANN=CA|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|11/24|c.2065+44_2065+45insT|||||| 22 50662925 . C G . . ANN=G|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|11/24|c.2065+15G>C|||||| 22 50662984 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|11/25|c.2021C>T|p.Ala674Val|2533/6019|2021/5460|674/1819|| 22 50662986 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|11/25|c.2019C>T|p.Ile673Ile|2531/6019|2019/5460|673/1819|| 22 50663060 . G C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|10/24|c.1984-39C>G|||||| 22 50664351 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|10/25|c.1855G>A|p.Val619Ile|2367/6019|1855/5460|619/1819|| 22 50664381 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|9/24|c.1834-9C>T|||||| 22 50664402 . A G . . ANN=G|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|9/24|c.1834-30T>C|||||| 22 50664448 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|9/24|c.1833+31G>A|||||| 22 50664462 . CAT C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|9/24|c.1833+15_1833+16delAT|||||| 22 50664611 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|9/25|c.1701G>A|p.Leu567Leu|2213/6019|1701/5460|567/1819|| 22 50664612 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|9/25|c.1700T>C|p.Leu567Ser|2212/6019|1700/5460|567/1819|| 22 50664640 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|8/24|c.1694-22C>T|||||| 22 50664683 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|8/24|c.1693+33G>A|||||| 22 50664684 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|8/24|c.1693+32C>T|||||| 22 50664735 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|8/25|c.1674C>T|p.His558His|2186/6019|1674/5460|558/1819|| 22 50664797 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|8/25|c.1612G>A|p.Asp538Asn|2124/6019|1612/5460|538/1819|| 22 50664798 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|8/25|c.1611C>T|p.His537His|2123/6019|1611/5460|537/1819|| 22 50664801 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|8/25|c.1608C>T|p.Ile536Ile|2120/6019|1608/5460|536/1819|| 22 50664818 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|7/24|c.1602-11C>T|||||| 22 50665126 . T C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|7/24|c.1601+36A>G|||||| 22 50665129 . G A . . ANN=A|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|7/24|c.1601+33C>T|||||| 22 50665137 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|7/24|c.1601+25G>A|||||| 22 50665287 . G C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|6/24|c.1492-16C>G|||||| 22 50665306 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|6/24|c.1492-35G>A|||||| 22 50665446 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|6/25|c.1473C>T|p.Pro491Pro|1985/6019|1473/5460|491/1819|| 22 50665476 . A G . . ANN=G|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|6/25|c.1443T>C|p.Ala481Ala|1955/6019|1443/5460|481/1819|| 22 50665513 . CCA C . . ANN=C|splice_region_variant&intron_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|5/24|c.1413-9_1413-8delTG|||||| 22 50665539 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|5/24|c.1413-33G>A|||||| 22 50666389 . G C . . ANN=C|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|5/25|c.1359C>G|p.Thr453Thr|1871/6019|1359/5460|453/1819|| 22 50666409 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|5/25|c.1339G>A|p.Val447Ile|1851/6019|1339/5460|447/1819|| 22 50666485 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/24|c.1291-28G>A|||||| 22 50666507 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/24|c.1291-50G>A|||||| 22 50667795 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/24|c.1290+38G>A|||||| 22 50667807 . T C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/24|c.1290+26A>G|||||| 22 50667842 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/25|c.1281C>T|p.Leu427Leu|1793/6019|1281/5460|427/1819|| 22 50667859 . A G . . ANN=G|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/25|c.1264T>C|p.Leu422Leu|1776/6019|1264/5460|422/1819|| 22 50667872 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/25|c.1251C>T|p.Pro417Pro|1763/6019|1251/5460|417/1819|| 22 50667905 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/25|c.1218C>T|p.Cys406Cys|1730/6019|1218/5460|406/1819|| 22 50667930 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/25|c.1193C>T|p.Ser398Leu|1705/6019|1193/5460|398/1819|| 22 50668005 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|4/25|c.1118C>T|p.Pro373Leu|1630/6019|1118/5460|373/1819|| 22 50671835 . C T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|3/25|c.1026G>A|p.Pro342Pro|1538/6019|1026/5460|342/1819|| 22 50671849 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|3/25|c.1012G>A|p.Val338Ile|1524/6019|1012/5460|338/1819|| 22 50671889 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|3/25|c.972C>T|p.Cys324Cys|1484/6019|972/5460|324/1819|| 22 50671990 . C T . . ANN=T|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|2/24|c.906-35G>A|||||| 22 50678593 . G C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|2/24|c.905+40C>G|||||| 22 50678620 . G C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|2/24|c.905+13C>G|||||| 22 50678630 . C CA . . ANN=CA|splice_donor_variant&intron_variant|HIGH|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|2/24|c.905+2_905+3insT||||||;LOF=(TUBGCP6|TUBGCP6|1|1.00) 22 50678643 . G A . . ANN=A|stop_gained|HIGH|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|2/25|c.895C>T|p.Arg299*|1407/6019|895/5460|299/1819||;LOF=(TUBGCP6|TUBGCP6|1|1.00);NMD=(TUBGCP6|TUBGCP6|1|1.00) 22 50678700 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|2/25|c.838G>C|p.Val280Leu|1350/6019|838/5460|280/1819|| 22 50678701 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|2/25|c.837C>T|p.Asp279Asp|1349/6019|837/5460|279/1819|| 22 50678739 . T A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|2/25|c.799A>T|p.Thr267Ser|1311/6019|799/5460|267/1819|| 22 50678830 . T C . . ANN=C|intron_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/24|c.742-34A>G|||||| 22 50682161 . C A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.728G>T|p.Gly243Val|1240/6019|728/5460|243/1819|| 22 50682208 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.681C>T|p.Asp227Asp|1193/6019|681/5460|227/1819|| 22 50682215 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.674A>G|p.Asp225Gly|1186/6019|674/5460|225/1819|| 22 50682234 . C A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.655G>T|p.Val219Leu|1167/6019|655/5460|219/1819|| 22 50682300 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.589T>C|p.Ser197Pro|1101/6019|589/5460|197/1819|| 22 50682351 . G T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.538C>A|p.Gln180Lys|1050/6019|538/5460|180/1819|| 22 50682361 . C G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.528G>C|p.Gln176His|1040/6019|528/5460|176/1819|| 22 50682446 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.443A>G|p.Tyr148Cys|955/6019|443/5460|148/1819|| 22 50682578 . A G . . ANN=G|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.311T>C|p.Leu104Pro|823/6019|311/5460|104/1819|| 22 50682644 . A C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.245T>G|p.Leu82Arg|757/6019|245/5460|82/1819|| 22 50682758 . G A . . ANN=A|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.131C>T|p.Ala44Val|643/6019|131/5460|44/1819|| 22 50682771 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.118G>A|p.Val40Met|630/6019|118/5460|40/1819|| 22 50682800 . C T . . ANN=T|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.89G>A|p.Arg30Gln|601/6019|89/5460|30/1819|| 22 50682847 . G T . . ANN=T|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.42C>A|p.Ala14Ala|554/6019|42/5460|14/1819|| 22 50682865 . G A . . ANN=A|synonymous_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.24C>T|p.Phe8Phe|536/6019|24/5460|8/1819|| 22 50682879 . T C . . ANN=C|missense_variant|MODERATE|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.10A>G|p.Ile4Val|522/6019|10/5460|4/1819|| 22 50682913 . G A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.-25C>T||||||,A|5_prime_UTR_variant|MODIFIER|TUBGCP6|TUBGCP6|transcript|NM_020461.3|Coding|1/25|c.-25C>T|||||25| 22 50683935 . T A,C,G . . ANN=A|3_prime_UTR_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|20/20|c.*1A>T|||||1|,C|3_prime_UTR_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|20/20|c.*1A>G|||||1|,G|3_prime_UTR_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|20/20|c.*1A>C|||||1|,A|3_prime_UTR_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|19/19|c.*1A>T|||||1|,C|3_prime_UTR_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|19/19|c.*1A>G|||||1|,G|3_prime_UTR_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|19/19|c.*1A>C|||||1| 22 50683973 . C G . . ANN=G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|19/19|c.1987-14G>C||||||,G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|18/18|c.1927-14G>C|||||| 22 50683997 . C A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|19/19|c.1987-38G>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|18/18|c.1927-38G>T|||||| 22 50684097 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|19/19|c.1986+7C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|18/18|c.1926+7C>T|||||| 22 50684256 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|19/20|c.1834A>G|p.Asn612Asp|2207/2706|1834/2010|612/669||,C|missense_variant&splice_region_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|18/19|c.1774A>G|p.Asn592Asp|2147/2646|1774/1950|592/649|| 22 50684296 . T C . . ANN=C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|18/19|c.1834-40A>G||||||,C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|17/18|c.1774-40A>G|||||| 22 50684312 . G A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|18/19|c.1833+27C>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|17/18|c.1773+27C>T|||||| 22 50684374 . G T . . ANN=T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|18/20|c.1798C>A|p.Leu600Met|2171/2706|1798/2010|600/669||,T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|17/19|c.1738C>A|p.Leu580Met|2111/2646|1738/1950|580/649|| 22 50684395 . G C . . ANN=C|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|18/20|c.1777C>G|p.Leu593Val|2150/2706|1777/2010|593/669||,C|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|17/19|c.1717C>G|p.Leu573Val|2090/2646|1717/1950|573/649|| 22 50684415 . T C . . ANN=C|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|18/20|c.1757A>G|p.Gln586Arg|2130/2706|1757/2010|586/669||,C|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|17/19|c.1697A>G|p.Gln566Arg|2070/2646|1697/1950|566/649|| 22 50684471 . G C . . ANN=C|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|18/20|c.1701C>G|p.Ala567Ala|2074/2706|1701/2010|567/669||,C|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|17/19|c.1641C>G|p.Ala547Ala|2014/2646|1641/1950|547/649|| 22 50684515 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|18/20|c.1657G>A|p.Gly553Ser|2030/2706|1657/2010|553/669||,T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|17/19|c.1597G>A|p.Gly533Ser|1970/2646|1597/1950|533/649|| 22 50684561 . C G . . ANN=G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|17/19|c.1651-40G>C||||||,G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|16/18|c.1591-40G>C|||||| 22 50684702 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|17/19|c.1650+25G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|16/18|c.1590+25G>A|||||| 22 50684708 . G A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|17/19|c.1650+19C>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|16/18|c.1590+19C>T|||||| 22 50684747 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|17/20|c.1630G>A|p.Val544Ile|2003/2706|1630/2010|544/669||,T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|16/19|c.1570G>A|p.Val524Ile|1943/2646|1570/1950|524/649|| 22 50684822 . G C . . ANN=C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|16/19|c.1572-17C>G||||||,C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|15/18|c.1512-17C>G|||||| 22 50684852 . G C . . ANN=C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|16/19|c.1572-47C>G||||||,C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|15/18|c.1512-47C>G|||||| 22 50685063 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|16/19|c.1571+45G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|15/18|c.1511+45G>A|||||| 22 50685069 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|16/19|c.1571+39G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|15/18|c.1511+39G>A|||||| 22 50685086 . A G . . ANN=G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|16/19|c.1571+22T>C||||||,G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|15/18|c.1511+22T>C|||||| 22 50685154 . C A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|16/20|c.1525G>T|p.Val509Leu|1898/2706|1525/2010|509/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|15/19|c.1465G>T|p.Val489Leu|1838/2646|1465/1950|489/649|| 22 50685290 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|15/19|c.1514+14G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|14/18|c.1454+14G>A|||||| 22 50685310 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|15/20|c.1508C>T|p.Ala503Val|1881/2706|1508/2010|503/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|14/19|c.1448C>T|p.Ala483Val|1821/2646|1448/1950|483/649|| 22 50685332 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|15/20|c.1486C>T|p.Arg496Trp|1859/2706|1486/2010|496/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|14/19|c.1426C>T|p.Arg476Trp|1799/2646|1426/1950|476/649|| 22 50685370 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|15/20|c.1448C>T|p.Pro483Leu|1821/2706|1448/2010|483/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|14/19|c.1388C>T|p.Pro463Leu|1761/2646|1388/1950|463/649|| 22 50685402 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|14/19|c.1423-7C>A||||||,T|splice_region_variant&intron_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|13/18|c.1363-7C>A|||||| 22 50686283 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/19|c.1337+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/18|c.1277+36G>A|||||| 22 50686284 . G A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/19|c.1337+35C>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/18|c.1277+35C>T|||||| 22 50686333 . T G . . ANN=G|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1323A>C|p.Thr441Thr|1696/2706|1323/2010|441/669||,G|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1263A>C|p.Thr421Thr|1636/2646|1263/1950|421/649|| 22 50686371 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1285G>A|p.Val429Ile|1658/2706|1285/2010|429/669||,T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1225G>A|p.Val409Ile|1598/2646|1225/1950|409/649|| 22 50686399 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1257G>A|p.Pro419Pro|1630/2706|1257/2010|419/669||,T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1197G>A|p.Pro399Pro|1570/2646|1197/1950|399/649|| 22 50686400 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1256C>T|p.Pro419Leu|1629/2706|1256/2010|419/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1196C>T|p.Pro399Leu|1569/2646|1196/1950|399/649|| 22 50686403 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1253C>T|p.Thr418Met|1626/2706|1253/2010|418/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1193C>T|p.Thr398Met|1566/2646|1193/1950|398/649|| 22 50686424 . C A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1232G>T|p.Arg411Leu|1605/2706|1232/2010|411/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1172G>T|p.Arg391Leu|1545/2646|1172/1950|391/649|| 22 50686473 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1183C>T|p.Pro395Ser|1556/2706|1183/2010|395/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1123C>T|p.Pro375Ser|1496/2646|1123/1950|375/649|| 22 50686495 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1161G>A|p.Val387Val|1534/2706|1161/2010|387/669||,T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1101G>A|p.Val367Val|1474/2646|1101/1950|367/649|| 22 50686501 . A T . . ANN=T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1155T>A|p.Gly385Gly|1528/2706|1155/2010|385/669||,T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1095T>A|p.Gly365Gly|1468/2646|1095/1950|365/649|| 22 50686558 . C A . . ANN=A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|13/20|c.1098G>T|p.Pro366Pro|1471/2706|1098/2010|366/669||,A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|12/19|c.1038G>T|p.Pro346Pro|1411/2646|1038/1950|346/649|| 22 50686588 . G A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|12/19|c.1082-14C>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|11/18|c.1022-14C>T|||||| 22 50686590 . A G . . ANN=G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|12/19|c.1082-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|11/18|c.1022-16T>C|||||| 22 50686607 . A G . . ANN=G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|12/19|c.1082-33T>C||||||,G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|11/18|c.1022-33T>C|||||| 22 50686642 . G A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|12/19|c.1081+12C>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|11/18|c.1021+12C>T|||||| 22 50686679 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|12/20|c.1056G>A|p.Pro352Pro|1429/2706|1056/2010|352/669||,T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|11/19|c.996G>A|p.Pro332Pro|1369/2646|996/1950|332/649|| 22 50686737 . A G . . ANN=G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|11/19|c.1014-16T>C||||||,G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|10/18|c.954-16T>C|||||| 22 50686767 . G C . . ANN=C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|11/19|c.1013+28C>G||||||,C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|10/18|c.953+28C>G|||||| 22 50686772 . G C . . ANN=C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|11/19|c.1013+23C>G||||||,C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|10/18|c.953+23C>G|||||| 22 50686775 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|11/19|c.1013+20G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|10/18|c.953+20G>A|||||| 22 50686807 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|11/20|c.1001C>T|p.Ala334Val|1374/2706|1001/2010|334/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|10/19|c.941C>T|p.Ala314Val|1314/2646|941/1950|314/649|| 22 50686821 . CAG C . . ANN=C|frameshift_variant|HIGH|HDAC10|HDAC10|transcript|NM_032019.5|Coding|11/20|c.985_986delCT|p.Leu329fs|1359/2706|985/2010|329/669||,C|frameshift_variant|HIGH|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|10/19|c.925_926delCT|p.Leu309fs|1299/2646|925/1950|309/649||;LOF=(HDAC10|HDAC10|2|1.00) 22 50686830 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|11/20|c.978C>T|p.Ala326Ala|1351/2706|978/2010|326/669||,A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|10/19|c.918C>T|p.Ala306Ala|1291/2646|918/1950|306/649|| 22 50686938 . A G . . ANN=G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|10/19|c.907-37T>C||||||,G|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|9/18|c.847-37T>C|||||| 22 50687115 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|10/20|c.882C>T|p.Gly294Gly|1255/2706|882/2010|294/669||,A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|9/19|c.822C>T|p.Gly274Gly|1195/2646|822/1950|274/649|| 22 50687117 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|10/20|c.880G>A|p.Gly294Ser|1253/2706|880/2010|294/669||,T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|9/19|c.820G>A|p.Gly274Ser|1193/2646|820/1950|274/649|| 22 50687118 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|10/20|c.879C>T|p.Ala293Ala|1252/2706|879/2010|293/669||,A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|9/19|c.819C>T|p.Ala273Ala|1192/2646|819/1950|273/649|| 22 50687178 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|10/20|c.819G>A|p.Gly273Gly|1192/2706|819/2010|273/669||,T|splice_region_variant&synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|9/19|c.759G>A|p.Gly253Gly|1132/2646|759/1950|253/649|| 22 50687294 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|9/20|c.782C>T|p.Ser261Leu|1155/2706|782/2010|261/669||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/18|c.757-114C>T|||||| 22 50687302 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|9/20|c.774G>A|p.Val258Val|1147/2706|774/2010|258/669||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/18|c.757-122G>A|||||| 22 50687328 . C A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|8/19|c.757-9G>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/18|c.757-148G>T|||||| 22 50687334 . G A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|8/19|c.757-15C>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/18|c.757-154C>T|||||| 22 50687351 . CAG C . . ANN=C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|8/19|c.757-34_757-33delCT||||||,C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/18|c.757-173_757-172delCT|||||| 22 50687487 . C A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|8/19|c.756+45G>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/18|c.756+45G>T|||||| 22 50687521 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|8/19|c.756+11G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/18|c.756+11G>A|||||| 22 50687558 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|8/20|c.730C>T|p.His244Tyr|1103/2706|730/2010|244/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/19|c.730C>T|p.His244Tyr|1103/2646|730/1950|244/649|| 22 50687573 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|8/20|c.715G>A|p.Val239Met|1088/2706|715/2010|239/669||,T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/19|c.715G>A|p.Val239Met|1088/2646|715/1950|239/649|| 22 50687595 . A G . . ANN=G|splice_region_variant&synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|8/20|c.693T>C|p.Val231Val|1066/2706|693/2010|231/669||,G|splice_region_variant&synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|8/19|c.693T>C|p.Val231Val|1066/2646|693/1950|231/649|| 22 50687800 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|7/20|c.647G>A|p.Arg216Gln|1020/2706|647/2010|216/669||,T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|7/19|c.647G>A|p.Arg216Gln|1020/2646|647/1950|216/649|| 22 50688023 . CTG C . . ANN=C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|6/19|c.563+39_563+40delCA||||||,C|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|6/18|c.563+39_563+40delCA|||||| 22 50688049 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|6/19|c.563+15G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|6/18|c.563+15G>A|||||| 22 50688051 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|6/19|c.563+13G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|6/18|c.563+13G>A|||||| 22 50688259 . C A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|5/19|c.494+30G>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|5/18|c.494+30G>T|||||| 22 50688335 . C T . . ANN=T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|5/20|c.448G>A|p.Val150Met|821/2706|448/2010|150/669||,T|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|5/19|c.448G>A|p.Val150Met|821/2646|448/1950|150/649|| 22 50688348 . A G . . ANN=G|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|5/20|c.435T>C|p.Cys145Cys|808/2706|435/2010|145/669||,G|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|5/19|c.435T>C|p.Cys145Cys|808/2646|435/1950|145/649|| 22 50688398 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|4/19|c.390-5C>T||||||,A|splice_region_variant&intron_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|4/18|c.390-5C>T|||||| 22 50688456 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|4/19|c.389+36G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|4/18|c.389+36G>A|||||| 22 50688533 . A T . . ANN=T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|4/20|c.348T>A|p.Ala116Ala|721/2706|348/2010|116/669||,T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|4/19|c.348T>A|p.Ala116Ala|721/2646|348/1950|116/649|| 22 50688550 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|4/20|c.331C>T|p.Leu111Leu|704/2706|331/2010|111/669||,A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|4/19|c.331C>T|p.Leu111Leu|704/2646|331/1950|111/649|| 22 50688572 . C T . . ANN=T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|4/20|c.309G>A|p.Ala103Ala|682/2706|309/2010|103/669||,T|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|4/19|c.309G>A|p.Ala103Ala|682/2646|309/1950|103/649|| 22 50688573 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|4/20|c.308C>T|p.Ala103Val|681/2706|308/2010|103/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|4/19|c.308C>T|p.Ala103Val|681/2646|308/1950|103/649|| 22 50688605 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|3/19|c.292-16G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|3/18|c.292-16G>A|||||| 22 50688635 . C T . . ANN=T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|3/19|c.292-46G>A||||||,T|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|3/18|c.292-46G>A|||||| 22 50689000 . A AG . . ANN=AG|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|2/19|c.195-49_195-48insC||||||,AG|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|2/18|c.195-49_195-48insC|||||| 22 50689002 . G A . . ANN=A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_032019.5|Coding|2/19|c.195-50C>T||||||,A|intron_variant|MODIFIER|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|2/18|c.195-50C>T|||||| 22 50689267 . G A . . ANN=A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_032019.5|Coding|2/20|c.127C>T|p.Leu43Leu|500/2706|127/2010|43/669||,A|synonymous_variant|LOW|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|2/19|c.127C>T|p.Leu43Leu|500/2646|127/1950|43/649|| 22 50689311 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|2/20|c.83C>T|p.Pro28Leu|456/2706|83/2010|28/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|2/19|c.83C>T|p.Pro28Leu|456/2646|83/1950|28/649|| 22 50689427 . G A . . ANN=A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_032019.5|Coding|1/20|c.35C>T|p.Thr12Met|408/2706|35/2010|12/669||,A|missense_variant|MODERATE|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|1/19|c.35C>T|p.Thr12Met|408/2646|35/1950|12/649|| 22 50689460 . A G . . ANN=G|start_lost|HIGH|HDAC10|HDAC10|transcript|NM_032019.5|Coding|1/20|c.2T>C|p.Met1?|375/2706|2/2010|1/669||,G|start_lost|HIGH|HDAC10|HDAC10|transcript|NM_001159286.1|Coding|1/19|c.2T>C|p.Met1?|375/2646|2/1950|1/649||;LOF=(HDAC10|HDAC10|2|1.00) 22 50691793 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|12/12|c.*37T>C|||||37| 22 50691870 . C T . . ANN=T|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|12/12|c.1064G>A|p.Arg355Gln|1215/1754|1064/1104|355/367|| 22 50691914 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|11/11|c.1025-5G>A|||||| 22 50691920 . T TG . . ANN=TG|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|11/11|c.1025-12_1025-11insC|||||| 22 50693704 . C T . . ANN=T|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|11/12|c.946G>A|p.Asp316Asn|1097/1754|946/1104|316/367|| 22 50693705 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|11/12|c.945C>T|p.His315His|1096/1754|945/1104|315/367|| 22 50693741 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|11/12|c.909C>T|p.Gly303Gly|1060/1754|909/1104|303/367|| 22 50693764 . C T . . ANN=T|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|11/12|c.886G>A|p.Ala296Thr|1037/1754|886/1104|296/367|| 22 50693889 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|10/12|c.843C>T|p.Ser281Ser|994/1754|843/1104|281/367|| 22 50693899 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|10/12|c.833C>T|p.Thr278Ile|984/1754|833/1104|278/367|| 22 50693919 . C T . . ANN=T|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|10/12|c.813G>A|p.Lys271Lys|964/1754|813/1104|271/367|| 22 50693934 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|10/12|c.798C>T|p.Pro266Pro|949/1754|798/1104|266/367|| 22 50693939 . G C . . ANN=C|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|10/12|c.793C>G|p.Leu265Val|944/1754|793/1104|265/367|| 22 50694131 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|8/11|c.692-8C>T|||||| 22 50694279 . C T . . ANN=T|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|8/12|c.651G>A|p.Ala217Ala|802/1754|651/1104|217/367|| 22 50694297 . A G . . ANN=G|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|8/12|c.633T>C|p.Ser211Ser|784/1754|633/1104|211/367|| 22 50694529 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|7/12|c.604C>T|p.Arg202Cys|755/1754|604/1104|202/367|| 22 50694568 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|7/12|c.565C>T|p.Arg189Trp|716/1754|565/1104|189/367|| 22 50694676 . G A . . ANN=A|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|6/11|c.505-48C>T|||||| 22 50695045 . C T . . ANN=T|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|6/12|c.487G>A|p.Glu163Lys|638/1754|487/1104|163/367|| 22 50695370 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|5/12|c.450C>T|p.Ile150Ile|601/1754|450/1104|150/367|| 22 50695379 . G A . . ANN=A|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|5/12|c.441C>T|p.Ala147Ala|592/1754|441/1104|147/367|| 22 50695401 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/11|c.427-8C>T|||||| 22 50695412 . T G . . ANN=G|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/11|c.427-19A>C|||||| 22 50695427 . G A . . ANN=A|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/11|c.427-34C>T|||||| 22 50695439 . A T . . ANN=T|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/11|c.427-46T>A|||||| 22 50695488 . G A . . ANN=A|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/11|c.426+23C>T|||||| 22 50695500 . G A . . ANN=A|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/11|c.426+11C>T|||||| 22 50695503 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/11|c.426+8C>T|||||| 22 50695506 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/11|c.426+5G>A|||||| 22 50695586 . G T . . ANN=T|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/12|c.351C>A|p.Gly117Gly|502/1754|351/1104|117/367|| 22 50695593 . T A . . ANN=A|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|4/12|c.344A>T|p.Asp115Val|495/1754|344/1104|115/367|| 22 50695651 . G A . . ANN=A|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|3/11|c.315-29C>T|||||| 22 50696623 . G A . . ANN=A|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|3/11|c.314+49C>T|||||| 22 50696639 . C T . . ANN=T|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|3/11|c.314+33G>A|||||| 22 50696644 . C T . . ANN=T|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|3/11|c.314+28G>A|||||| 22 50696648 . C T . . ANN=T|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|3/11|c.314+24G>A|||||| 22 50696662 . C T . . ANN=T|intron_variant|MODIFIER|MAPK12|MAPK12|transcript|NM_002969.3|Coding|3/11|c.314+10G>A|||||| 22 50696678 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|3/12|c.308C>T|p.Thr103Met|459/1754|308/1104|103/367|| 22 50699625 . G A . . ANN=A|missense_variant|MODERATE|MAPK12|MAPK12|transcript|NM_002969.3|Coding|2/12|c.226C>T|p.Arg76Cys|377/1754|226/1104|76/367|| 22 50699668 . A G . . ANN=G|synonymous_variant|LOW|MAPK12|MAPK12|transcript|NM_002969.3|Coding|2/12|c.183T>C|p.Pro61Pro|334/1754|183/1104|61/367|| 22 50703501 . G A . . ANN=A|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|11/11|c.1016-45C>T||||||,A|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|11/12|n.1117-45C>T|||||| 22 50703710 . G A . . ANN=A|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|11/11|c.1015+40C>T||||||,A|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|11/12|n.1116+40C>T|||||| 22 50703960 . G A . . ANN=A|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|10/11|c.842-37C>T||||||,A|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|10/12|n.943-37C>T|||||| 22 50704028 . C T . . ANN=T|missense_variant|MODERATE|MAPK11|MAPK11|transcript|NM_002751.6|Coding|10/12|c.824G>A|p.Arg275His|925/2431|824/1095|275/364||,T|non_coding_exon_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|10/13|n.925G>A|||||| 22 50704075 . G C . . ANN=C|missense_variant|MODERATE|MAPK11|MAPK11|transcript|NM_002751.6|Coding|10/12|c.777C>G|p.Ile259Met|878/2431|777/1095|259/364||,C|non_coding_exon_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|10/13|n.878C>G|||||| 22 50704655 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|MAPK11|MAPK11|transcript|NM_002751.6|Coding|9/12|c.762C>T|p.His254His|863/2431|762/1095|254/364||,A|splice_region_variant&non_coding_exon_variant|LOW|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|9/13|n.863C>T|||||| 22 50704661 . T C . . ANN=C|synonymous_variant|LOW|MAPK11|MAPK11|transcript|NM_002751.6|Coding|9/12|c.756A>G|p.Ser252Ser|857/2431|756/1095|252/364||,C|non_coding_exon_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|9/13|n.857A>G|||||| 22 50704951 . A C . . ANN=C|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|8/11|c.682+18T>G||||||,C|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|8/12|n.783+18T>G|||||| 22 50704979 . C T . . ANN=T|synonymous_variant|LOW|MAPK11|MAPK11|transcript|NM_002751.6|Coding|8/12|c.672G>A|p.Pro224Pro|773/2431|672/1095|224/364||,T|non_coding_exon_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|8/13|n.773G>A|||||| 22 50705059 . A G . . ANN=G|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|7/11|c.611-19T>C||||||,G|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|7/12|n.712-19T>C|||||| 22 50705060 . C T . . ANN=T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|7/11|c.611-20G>A||||||,T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|7/12|n.712-20G>A|||||| 22 50705442 . C G . . ANN=G|missense_variant|MODERATE|MAPK11|MAPK11|transcript|NM_002751.6|Coding|7/12|c.531G>C|p.Glu177Asp|632/2431|531/1095|177/364||,G|non_coding_exon_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|7/13|n.632G>C|||||| 22 50705466 . A G . . ANN=G|synonymous_variant|LOW|MAPK11|MAPK11|transcript|NM_002751.6|Coding|7/12|c.507T>C|p.Phe169Phe|608/2431|507/1095|169/364||,G|non_coding_exon_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|7/13|n.608T>C|||||| 22 50705517 . T G . . ANN=G|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|6/11|c.495+39A>C||||||,G|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|6/12|n.596+39A>C|||||| 22 50705528 . C T . . ANN=T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|6/11|c.495+28G>A||||||,T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|6/12|n.596+28G>A|||||| 22 50705546 . C T . . ANN=T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|6/11|c.495+10G>A||||||,T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|6/12|n.596+10G>A|||||| 22 50705547 . G C . . ANN=C|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|6/11|c.495+9C>G||||||,C|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|6/12|n.596+9C>G|||||| 22 50705749 . C T . . ANN=T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|4/11|c.418-34G>A||||||,T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|4/12|n.519-34G>A|||||| 22 50705764 . C G . . ANN=G|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|4/11|c.417+36G>C||||||,G|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|4/12|n.518+36G>C|||||| 22 50705821 . G A . . ANN=A|synonymous_variant|LOW|MAPK11|MAPK11|transcript|NM_002751.6|Coding|4/12|c.396C>T|p.Tyr132Tyr|497/2431|396/1095|132/364||,A|non_coding_exon_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|4/13|n.497C>T|||||| 22 50705921 . G A . . ANN=A|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|3/11|c.306-10C>T||||||,A|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|3/12|n.407-10C>T|||||| 22 50705947 . C T . . ANN=T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|3/11|c.306-36G>A||||||,T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|3/12|n.407-36G>A|||||| 22 50706381 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|MAPK11|MAPK11|transcript|NM_002751.6|Coding|1/11|c.117-3C>T||||||,A|splice_region_variant&intron_variant|LOW|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|1/12|n.218-3C>T|||||| 22 50708594 . C T . . ANN=T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|1/11|c.116+12G>A||||||,T|intron_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|1/12|n.217+12G>A|||||| 22 50708731 . A G . . ANN=G|5_prime_UTR_variant|MODIFIER|MAPK11|MAPK11|transcript|NM_002751.6|Coding|1/12|c.-10T>C|||||10|,G|non_coding_exon_variant|MODIFIER|MAPK11|MAPK11|transcript|NR_110887.1|Noncoding|1/13|n.92T>C|||||| 22 50714211 . A G . . ANN=G|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|37/37|c.5439T>C|p.Pro1813Pro|5532/6335|5439/5517|1813/1838|| 22 50714244 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|36/36|c.5413-7C>T|||||| 22 50714250 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|36/36|c.5413-13G>A|||||| 22 50714289 . T C . . ANN=C|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|36/36|c.5412+29A>G|||||| 22 50714298 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|36/36|c.5412+20G>A|||||| 22 50714320 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|36/37|c.5410G>A|p.Glu1804Lys|5503/6335|5410/5517|1804/1838|| 22 50714389 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|36/37|c.5341C>T|p.His1781Tyr|5434/6335|5341/5517|1781/1838|| 22 50715020 . G C . . ANN=C|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|35/36|c.5337+38C>G|||||| 22 50715023 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|35/36|c.5337+35C>T|||||| 22 50715029 . T C . . ANN=C|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|35/36|c.5337+29A>G|||||| 22 50715165 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|34/36|c.5262-32G>A|||||| 22 50715271 . T C . . ANN=C|missense_variant&splice_region_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|34/37|c.5261A>G|p.Asp1754Gly|5354/6335|5261/5517|1754/1838|| 22 50715339 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|33/36|c.5197-4A>G|||||| 22 50715970 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|33/36|c.5196+50C>T|||||| 22 50715973 . G T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|33/36|c.5196+47C>A|||||| 22 50716010 . C A,T . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|33/36|c.5196+10G>T||||||,T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|33/36|c.5196+10G>A|||||| 22 50716044 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|33/37|c.5172G>A|p.Thr1724Thr|5265/6335|5172/5517|1724/1838|| 22 50716068 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|33/37|c.5148G>A|p.Ala1716Ala|5241/6335|5148/5517|1716/1838|| 22 50716167 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|33/37|c.5049C>T|p.Ser1683Ser|5142/6335|5049/5517|1683/1838|| 22 50716302 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|32/37|c.5028C>T|p.Ile1676Ile|5121/6335|5028/5517|1676/1838|| 22 50716375 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|32/37|c.4955C>T|p.Pro1652Leu|5048/6335|4955/5517|1652/1838|| 22 50716446 . TG T . . ANN=T|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|31/36|c.4888-5delC|||||| 22 50716479 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|31/36|c.4888-37C>T|||||| 22 50716480 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|31/36|c.4888-38G>A|||||| 22 50716490 . G T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|31/36|c.4888-48C>A|||||| 22 50716492 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|31/36|c.4888-50C>T|||||| 22 50716538 . G T . . ANN=T|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|31/36|c.4887+8C>A|||||| 22 50717015 . A G . . ANN=G|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|29/36|c.4647+10T>C|||||| 22 50717129 . T G . . ANN=G|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|28/36|c.4547-4A>C|||||| 22 50717263 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|28/36|c.4546+21G>A|||||| 22 50717291 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|28/37|c.4539G>A|p.Val1513Val|4632/6335|4539/5517|1513/1838|| 22 50717405 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|28/37|c.4425C>T|p.Asp1475Asp|4518/6335|4425/5517|1475/1838|| 22 50717476 . C A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|27/36|c.4390-36G>T|||||| 22 50718101 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|27/37|c.4347C>T|p.Asn1449Asn|4440/6335|4347/5517|1449/1838|| 22 50718217 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|26/36|c.4243-12G>A|||||| 22 50718397 . A G . . ANN=G|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|26/36|c.4242+37T>C|||||| 22 50718873 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|25/36|c.4175+45C>T|||||| 22 50718893 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|25/36|c.4175+25G>A|||||| 22 50718894 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|25/36|c.4175+24C>T|||||| 22 50718941 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|25/37|c.4152G>A|p.Lys1384Lys|4245/6335|4152/5517|1384/1838|| 22 50719040 . C A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|25/37|c.4053G>T|p.Ala1351Ala|4146/6335|4053/5517|1351/1838|| 22 50719046 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|25/37|c.4047C>T|p.Tyr1349Tyr|4140/6335|4047/5517|1349/1838|| 22 50719113 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|24/36|c.3994-14G>A|||||| 22 50719155 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|24/36|c.3993+18C>T|||||| 22 50719161 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|24/36|c.3993+12G>A|||||| 22 50719165 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|24/36|c.3993+8A>G|||||| 22 50719166 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|24/36|c.3993+7C>T|||||| 22 50719237 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|24/37|c.3929C>T|p.Pro1310Leu|4022/6335|3929/5517|1310/1838|| 22 50719251 . A G . . ANN=G|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|24/37|c.3915T>C|p.Pro1305Pro|4008/6335|3915/5517|1305/1838|| 22 50719443 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|23/36|c.3764-41C>T|||||| 22 50719484 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|23/36|c.3763+34C>T|||||| 22 50719632 . C A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|22/36|c.3663-14G>T|||||| 22 50719643 . G C . . ANN=C|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|22/36|c.3663-25C>G|||||| 22 50719652 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|22/36|c.3663-34C>T|||||| 22 50719774 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|22/36|c.3662+15C>T|||||| 22 50719842 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|22/37|c.3609G>A|p.Pro1203Pro|3702/6335|3609/5517|1203/1838|| 22 50719860 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|22/37|c.3591G>A|p.Pro1197Pro|3684/6335|3591/5517|1197/1838|| 22 50719869 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|22/37|c.3582C>T|p.Ser1194Ser|3675/6335|3582/5517|1194/1838|| 22 50719942 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|21/36|c.3523-14G>A|||||| 22 50719976 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|21/36|c.3522+19G>A|||||| 22 50720181 . C G . . ANN=G|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|20/36|c.3346-10G>C|||||| 22 50720191 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|20/36|c.3346-20G>A|||||| 22 50720215 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|20/36|c.3346-44C>T|||||| 22 50720264 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|20/36|c.3345+19C>T|||||| 22 50720295 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|20/37|c.3333C>T|p.Leu1111Leu|3426/6335|3333/5517|1111/1838|| 22 50720319 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|20/37|c.3309C>T|p.Gly1103Gly|3402/6335|3309/5517|1103/1838|| 22 50720408 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|20/37|c.3220G>A|p.Glu1074Lys|3313/6335|3220/5517|1074/1838|| 22 50720430 . G C . . ANN=C|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|20/37|c.3198C>G|p.Ala1066Ala|3291/6335|3198/5517|1066/1838|| 22 50720580 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|19/36|c.3117+33G>A|||||| 22 50720591 . C G . . ANN=G|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|19/36|c.3117+22G>C|||||| 22 50720622 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|19/37|c.3108G>A|p.Gln1036Gln|3201/6335|3108/5517|1036/1838|| 22 50721118 . G C . . ANN=C|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|18/36|c.2987+22C>G|||||| 22 50721170 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|18/37|c.2957G>A|p.Arg986Gln|3050/6335|2957/5517|986/1838|| 22 50721177 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|18/37|c.2950G>A|p.Val984Ile|3043/6335|2950/5517|984/1838|| 22 50721188 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|18/37|c.2939G>A|p.Arg980His|3032/6335|2939/5517|980/1838|| 22 50721244 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|18/37|c.2883G>A|p.Leu961Leu|2976/6335|2883/5517|961/1838|| 22 50721252 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|18/37|c.2875A>G|p.Met959Val|2968/6335|2875/5517|959/1838|| 22 50721295 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|18/37|c.2832G>A|p.Ala944Ala|2925/6335|2832/5517|944/1838|| 22 50721296 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|18/37|c.2831C>T|p.Ala944Val|2924/6335|2831/5517|944/1838|| 22 50721492 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|17/37|c.2803G>A|p.Val935Ile|2896/6335|2803/5517|935/1838|| 22 50721497 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|17/37|c.2798A>G|p.Asn933Ser|2891/6335|2798/5517|933/1838|| 22 50721723 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|16/36|c.2679+43G>A|||||| 22 50721732 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|16/36|c.2679+34G>A|||||| 22 50721756 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|16/36|c.2679+10C>T|||||| 22 50721758 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|16/36|c.2679+8C>T|||||| 22 50721835 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|16/37|c.2610G>A|p.Thr870Thr|2703/6335|2610/5517|870/1838|| 22 50721879 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|15/36|c.2571-5G>A|||||| 22 50722007 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|15/36|c.2570+24G>A|||||| 22 50722134 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|15/37|c.2467A>G|p.Ile823Val|2560/6335|2467/5517|823/1838|| 22 50722167 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|15/37|c.2434A>G|p.Thr812Ala|2527/6335|2434/5517|812/1838|| 22 50722227 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|14/36|c.2421+35C>T|||||| 22 50722277 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|14/37|c.2406G>A|p.Pro802Pro|2499/6335|2406/5517|802/1838|| 22 50722289 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|14/37|c.2394C>T|p.Ser798Ser|2487/6335|2394/5517|798/1838|| 22 50722408 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|14/37|c.2275A>G|p.Asn759Asp|2368/6335|2275/5517|759/1838|| 22 50722424 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|13/36|c.2264-5C>T|||||| 22 50722468 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|13/36|c.2264-49C>T|||||| 22 50722534 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|13/36|c.2263+27C>T|||||| 22 50722646 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|12/36|c.2182-4C>T|||||| 22 50722685 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|12/36|c.2182-43C>T|||||| 22 50722691 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|12/36|c.2182-49G>A|||||| 22 50723013 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|12/37|c.2170C>T|p.Arg724Trp|2263/6335|2170/5517|724/1838|| 22 50724190 . G T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|11/36|c.2088+39C>A|||||| 22 50724206 . A G . . ANN=G|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|11/36|c.2088+23T>C|||||| 22 50724207 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|11/36|c.2088+22C>T|||||| 22 50724401 . G C . . ANN=C|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|10/36|c.1986+18C>G|||||| 22 50724515 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|10/37|c.1890C>T|p.Cys630Cys|1983/6335|1890/5517|630/1838|| 22 50724593 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|9/36|c.1877+9C>T|||||| 22 50724666 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|9/37|c.1813C>T|p.Leu605Phe|1906/6335|1813/5517|605/1838|| 22 50724731 . G T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|8/36|c.1763-15C>A|||||| 22 50724733 . G T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|8/36|c.1763-17C>A|||||| 22 50724751 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|8/36|c.1763-35C>T|||||| 22 50725514 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|8/36|c.1762+26G>A|||||| 22 50725516 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|8/36|c.1762+24G>A|||||| 22 50725553 . T C . . ANN=C|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|8/37|c.1749A>G|p.Thr583Thr|1842/6335|1749/5517|583/1838|| 22 50726237 . G T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|6/36|c.1482-15C>A|||||| 22 50726240 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|6/36|c.1482-18C>T|||||| 22 50726477 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|5/36|c.1381-11C>T|||||| 22 50726510 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|5/36|c.1381-44G>A|||||| 22 50727152 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|5/36|c.1380+20G>A|||||| 22 50727290 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|5/37|c.1262C>T|p.Thr421Ile|1355/6335|1262/5517|421/1838|| 22 50727327 . G T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|4/36|c.1252-27C>A|||||| 22 50727333 . G A . . ANN=A|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|4/36|c.1252-33C>T|||||| 22 50727399 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|4/37|c.1241G>A|p.Arg414Gln|1334/6335|1241/5517|414/1838|| 22 50727443 . G C . . ANN=C|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|4/37|c.1197C>G|p.Ala399Ala|1290/6335|1197/5517|399/1838|| 22 50727512 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|4/37|c.1128C>T|p.Arg376Arg|1221/6335|1128/5517|376/1838|| 22 50727513 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|4/37|c.1127G>A|p.Arg376His|1220/6335|1127/5517|376/1838|| 22 50727576 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/36|c.1069-5C>T|||||| 22 50727899 . C T . . ANN=T|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/36|c.1068+47G>A|||||| 22 50727921 . T C . . ANN=C|intron_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/36|c.1068+25A>G|||||| 22 50728062 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.952A>G|p.Lys318Glu|1045/6335|952/5517|318/1838|| 22 50728168 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.846C>T|p.Ala282Ala|939/6335|846/5517|282/1838|| 22 50728170 . C T . . ANN=T|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.844G>A|p.Ala282Thr|937/6335|844/5517|282/1838|| 22 50728219 . C G . . ANN=G|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.795G>C|p.Gln265His|888/6335|795/5517|265/1838|| 22 50728355 . G A . . ANN=A|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.659C>T|p.Ala220Val|752/6335|659/5517|220/1838|| 22 50728478 . T C . . ANN=C|missense_variant|MODERATE|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.536A>G|p.Asn179Ser|629/6335|536/5517|179/1838|| 22 50728606 . G A . . ANN=A|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.408C>T|p.Asp136Asp|501/6335|408/5517|136/1838|| 22 50728774 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.240G>A|p.Pro80Pro|333/6335|240/5517|80/1838|| 22 50728777 . C T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.237G>A|p.Thr79Thr|330/6335|237/5517|79/1838|| 22 50728966 . T C . . ANN=C|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.48A>G|p.Ala16Ala|141/6335|48/5517|16/1838|| 22 50728969 . G T . . ANN=T|synonymous_variant|LOW|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.45C>A|p.Gly15Gly|138/6335|45/5517|15/1838|| 22 50729021 . C T . . ANN=T|5_prime_UTR_variant|MODIFIER|PLXNB2|PLXNB2|transcript|NM_012401.3|Coding|3/37|c.-8G>A|||||8| 22 50750529 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|20/20|c.*39G>C|||||39| 22 50750573 . G A . . ANN=A|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|20/20|c.1753C>T|p.Pro585Ser|1825/2006|1753/1758|585/585|| 22 50750606 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|20/20|c.1720C>T|p.Leu574Leu|1792/2006|1720/1758|574/585|| 22 50750720 . G A . . ANN=A|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|19/19|c.1636-30C>T|||||| 22 50750805 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|19/20|c.1602C>T|p.Val534Val|1674/2006|1602/1758|534/585|| 22 50750835 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|19/20|c.1572C>T|p.Thr524Thr|1644/2006|1572/1758|524/585|| 22 50750879 . G A . . ANN=A|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|18/19|c.1561-33C>T|||||| 22 50751529 . G C . . ANN=C|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|17/20|c.1356C>G|p.Pro452Pro|1428/2006|1356/1758|452/585|| 22 50751547 . GA G . . ANN=G|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|16/19|c.1348-11delT|||||| 22 50751563 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|16/19|c.1348-26G>A|||||| 22 50752024 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|15/19|c.1293+40G>A|||||| 22 50752105 . G A . . ANN=A|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|15/20|c.1252C>T|p.Arg418Trp|1324/2006|1252/1758|418/585|| 22 50752133 . C T . . ANN=T|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|15/20|c.1224G>A|p.Pro408Pro|1296/2006|1224/1758|408/585|| 22 50752150 . C T . . ANN=T|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|15/20|c.1207G>A|p.Val403Met|1279/2006|1207/1758|403/585|| 22 50752169 . G A . . ANN=A|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|14/19|c.1204-16C>T|||||| 22 50752185 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|14/19|c.1204-32G>A|||||| 22 50752213 . T C . . ANN=C|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|14/19|c.1203+30A>G|||||| 22 50752258 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|14/20|c.1188C>T|p.Leu396Leu|1260/2006|1188/1758|396/585|| 22 50752297 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|14/20|c.1149C>T|p.Thr383Thr|1221/2006|1149/1758|383/585|| 22 50752330 . G A . . ANN=A|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|13/19|c.1139-23C>T|||||| 22 50752705 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|12/19|c.1073-4G>A|||||| 22 50752747 . G C . . ANN=C|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|12/19|c.1073-46C>G|||||| 22 50752784 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|12/19|c.1072+45G>A|||||| 22 50752968 . G A . . ANN=A|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|11/19|c.978-45C>T|||||| 22 50753042 . C T . . ANN=T|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|11/20|c.969G>A|p.Thr323Thr|1041/2006|969/1758|323/585|| 22 50753069 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|11/20|c.942C>T|p.Ser314Ser|1014/2006|942/1758|314/585|| 22 50753184 . G A . . ANN=A|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|10/19|c.881+44C>T|||||| 22 50753206 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|10/19|c.881+22G>A|||||| 22 50753260 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|10/20|c.849C>T|p.Asp283Asp|921/2006|849/1758|283/585|| 22 50753262 . C T . . ANN=T|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|10/20|c.847G>A|p.Asp283Asn|919/2006|847/1758|283/585|| 22 50753263 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|10/20|c.846C>T|p.Pro282Pro|918/2006|846/1758|282/585|| 22 50753290 . C T . . ANN=T|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|10/20|c.819G>A|p.Glu273Glu|891/2006|819/1758|273/585|| 22 50753334 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|10/20|c.775C>T|p.Leu259Leu|847/2006|775/1758|259/585|| 22 50754170 . G A . . ANN=A|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|9/20|c.731C>T|p.Ala244Val|803/2006|731/1758|244/585|| 22 50754202 . AGAG A . . ANN=A|splice_region_variant&intron_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|8/19|c.703-7_703-5delCTC|||||| 22 50754203 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|8/19|c.703-5C>G|||||| 22 50754416 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|8/19|c.702+38G>A|||||| 22 50754445 . A T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|8/19|c.702+9T>A|||||| 22 50754466 . C T . . ANN=T|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|8/20|c.690G>A|p.Gln230Gln|762/2006|690/1758|230/585|| 22 50754512 . C T . . ANN=T|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|8/20|c.644G>A|p.Arg215His|716/2006|644/1758|215/585|| 22 50754519 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|7/19|c.640-3C>T|||||| 22 50754648 . T C . . ANN=C|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|7/20|c.594A>G|p.Ala198Ala|666/2006|594/1758|198/585|| 22 50754649 . G A . . ANN=A|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|7/20|c.593C>T|p.Ala198Val|665/2006|593/1758|198/585|| 22 50754705 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|6/19|c.560-23G>A|||||| 22 50754772 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|6/19|c.559+27G>A|||||| 22 50754836 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|6/20|c.522C>T|p.Pro174Pro|594/2006|522/1758|174/585|| 22 50754874 . C G . . ANN=G|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|6/20|c.484G>C|p.Val162Leu|556/2006|484/1758|162/585|| 22 50755782 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|5/20|c.393C>T|p.Phe131Phe|465/2006|393/1758|131/585|| 22 50755840 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|4/19|c.373-38G>A|||||| 22 50756320 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|4/19|c.372+17G>A|||||| 22 50756388 . G A . . ANN=A|synonymous_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|4/20|c.321C>T|p.Pro107Pro|393/2006|321/1758|107/585|| 22 50756413 . C A . . ANN=A|missense_variant|MODERATE|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|4/20|c.296G>T|p.Arg99Leu|368/2006|296/1758|99/585|| 22 50756452 . A G . . ANN=G|splice_region_variant&intron_variant|LOW|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|3/19|c.260-3T>C|||||| 22 50756486 . G A . . ANN=A|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|3/19|c.260-37C>T|||||| 22 50757242 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|3/19|c.259+34G>A|||||| 22 50757245 . G C . . ANN=C|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|3/19|c.259+31C>G|||||| 22 50757337 . C T . . ANN=T|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|2/19|c.217-19G>A|||||| 22 50757348 . G A . . ANN=A|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|2/19|c.217-30C>T|||||| 22 50757365 . T C . . ANN=C|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|2/19|c.216+29A>G|||||| 22 50757470 . T C . . ANN=C|intron_variant|MODIFIER|DENND6B|DENND6B|transcript|NM_001001794.3|Coding|1/19|c.178-38A>G|||||| 22 50832305 . T A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|2/23|c.-16-17T>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|2/22|c.-16-17T>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|2/22|c.-16-17T>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|2/22|c.-16-17T>A|||||| 22 50832326 . GC G . . ANN=G|5_prime_UTR_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|3/24|c.-11delC|||||11|,G|5_prime_UTR_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|3/23|c.-11delC|||||11|,G|5_prime_UTR_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|3/23|c.-11delC|||||11|,G|5_prime_UTR_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|3/23|c.-11delC|||||11| 22 50832366 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|3/24|c.29C>T|p.Thr10Met|410/4103|29/2880|10/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|3/23|c.29C>T|p.Thr10Met|410/4025|29/2802|10/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|3/23|c.29C>T|p.Thr10Met|410/4021|29/2784|10/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|3/23|c.29C>T|p.Thr10Met|410/4022|29/2799|10/932|| 22 50832373 . T C . . ANN=C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|3/24|c.36T>C|p.His12His|417/4103|36/2880|12/959||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|3/23|c.36T>C|p.His12His|417/4025|36/2802|12/933||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|3/23|c.36T>C|p.His12His|417/4021|36/2784|12/927||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|3/23|c.36T>C|p.His12His|417/4022|36/2799|12/932|| 22 50832506 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|3/24|c.169C>T|p.Leu57Leu|550/4103|169/2880|57/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|3/23|c.169C>T|p.Leu57Leu|550/4025|169/2802|57/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|3/23|c.169C>T|p.Leu57Leu|550/4021|169/2784|57/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|3/23|c.169C>T|p.Leu57Leu|550/4022|169/2799|57/932|| 22 50845178 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|4/24|c.288C>T|p.Leu96Leu|669/4103|288/2880|96/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|4/23|c.288C>T|p.Leu96Leu|669/4025|288/2802|96/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|4/23|c.288C>T|p.Leu96Leu|669/4021|288/2784|96/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|4/23|c.288C>T|p.Leu96Leu|669/4022|288/2799|96/932|| 22 50845314 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|4/23|c.414+10G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|4/22|c.414+10G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|4/22|c.414+10G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|4/22|c.414+10G>A|||||| 22 50852952 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|4/23|c.415-29G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|4/22|c.415-29G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|4/22|c.415-29G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|4/22|c.415-29G>A|||||| 22 50853008 . A G . . ANN=G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|5/24|c.442A>G|p.Lys148Glu|823/4103|442/2880|148/959||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|5/23|c.442A>G|p.Lys148Glu|823/4025|442/2802|148/933||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|5/23|c.442A>G|p.Lys148Glu|823/4021|442/2784|148/927||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|5/23|c.442A>G|p.Lys148Glu|823/4022|442/2799|148/932|| 22 50853021 . T A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|5/24|c.455T>A|p.Leu152Gln|836/4103|455/2880|152/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|5/23|c.455T>A|p.Leu152Gln|836/4025|455/2802|152/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|5/23|c.455T>A|p.Leu152Gln|836/4021|455/2784|152/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|5/23|c.455T>A|p.Leu152Gln|836/4022|455/2799|152/932|| 22 50853095 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|5/24|c.529G>A|p.Gly177Arg|910/4103|529/2880|177/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|5/23|c.529G>A|p.Gly177Arg|910/4025|529/2802|177/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|5/23|c.529G>A|p.Gly177Arg|910/4021|529/2784|177/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|5/23|c.529G>A|p.Gly177Arg|910/4022|529/2799|177/932|| 22 50853132 . TC T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|5/23|c.552+15delC||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|5/22|c.552+15delC||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|5/22|c.552+15delC||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|5/22|c.552+15delC|||||| 22 50853140 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|5/23|c.552+22C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|5/22|c.552+22C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|5/22|c.552+22C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|5/22|c.552+22C>T|||||| 22 50854501 . G T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|5/23|c.553-20G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|5/22|c.553-20G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|5/22|c.553-20G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|5/22|c.553-20G>T|||||| 22 50854604 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|6/23|c.618+18C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|6/22|c.618+18C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|6/22|c.618+18C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|6/22|c.618+18C>T|||||| 22 50857273 . CTG C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|6/23|c.619-22_619-21delTG||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|6/22|c.619-22_619-21delTG||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|6/22|c.619-22_619-21delTG||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|6/22|c.619-22_619-21delTG|||||| 22 50857832 . G T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|8/24|c.786G>T|p.Glu262Asp|1167/4103|786/2880|262/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|8/23|c.789G>T|p.Glu263Asp|1170/4025|789/2802|263/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|8/23|c.786G>T|p.Glu262Asp|1167/4021|786/2784|262/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|8/23|c.786G>T|p.Glu262Asp|1167/4022|786/2799|262/932|| 22 50857916 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|8/23|c.845+25G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|8/22|c.848+25G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|8/22|c.845+25G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|8/22|c.845+25G>A|||||| 22 50857917 . T C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|8/23|c.845+26T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|8/22|c.848+26T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|8/22|c.845+26T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|8/22|c.845+26T>C|||||| 22 50860674 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|8/23|c.846-9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|8/22|c.849-9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|8/22|c.846-9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|8/22|c.846-9C>T|||||| 22 50860818 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|9/23|c.972+9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|9/22|c.975+9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|9/22|c.972+9C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|9/22|c.972+9C>T|||||| 22 50869667 . T C . . ANN=C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|11/24|c.1191T>C|p.Ala397Ala|1572/4103|1191/2880|397/959||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|11/23|c.1194T>C|p.Ala398Ala|1575/4025|1194/2802|398/933||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|11/23|c.1191T>C|p.Ala397Ala|1572/4021|1191/2784|397/927||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|11/23|c.1191T>C|p.Ala397Ala|1572/4022|1191/2799|397/932|| 22 50869692 . G C . . ANN=C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|11/24|c.1216G>C|p.Glu406Gln|1597/4103|1216/2880|406/959||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|11/23|c.1219G>C|p.Glu407Gln|1600/4025|1219/2802|407/933||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|11/23|c.1216G>C|p.Glu406Gln|1597/4021|1216/2784|406/927||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|11/23|c.1216G>C|p.Glu406Gln|1597/4022|1216/2799|406/932|| 22 50869709 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|11/24|c.1233C>T|p.Ser411Ser|1614/4103|1233/2880|411/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|11/23|c.1236C>T|p.Ser412Ser|1617/4025|1236/2802|412/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|11/23|c.1233C>T|p.Ser411Ser|1614/4021|1233/2784|411/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|11/23|c.1233C>T|p.Ser411Ser|1614/4022|1233/2799|411/932|| 22 50869757 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|11/24|c.1281C>T|p.Ser427Ser|1662/4103|1281/2880|427/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|11/23|c.1284C>T|p.Ser428Ser|1665/4025|1284/2802|428/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|11/23|c.1281C>T|p.Ser427Ser|1662/4021|1281/2784|427/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|11/23|c.1281C>T|p.Ser427Ser|1662/4022|1281/2799|427/932|| 22 50869761 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|11/24|c.1285G>A|p.Glu429Lys|1666/4103|1285/2880|429/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|11/23|c.1288G>A|p.Glu430Lys|1669/4025|1288/2802|430/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|11/23|c.1285G>A|p.Glu429Lys|1666/4021|1285/2784|429/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|11/23|c.1285G>A|p.Glu429Lys|1666/4022|1285/2799|429/932|| 22 50869776 . G T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|11/24|c.1300G>T|p.Ala434Ser|1681/4103|1300/2880|434/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|11/23|c.1303G>T|p.Ala435Ser|1684/4025|1303/2802|435/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|11/23|c.1300G>T|p.Ala434Ser|1681/4021|1300/2784|434/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|11/23|c.1300G>T|p.Ala434Ser|1681/4022|1300/2799|434/932|| 22 50869795 . A C . . ANN=C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|11/24|c.1319A>C|p.Asn440Thr|1700/4103|1319/2880|440/959||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|11/23|c.1322A>C|p.Asn441Thr|1703/4025|1322/2802|441/933||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|11/23|c.1319A>C|p.Asn440Thr|1700/4021|1319/2784|440/927||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|11/23|c.1319A>C|p.Asn440Thr|1700/4022|1319/2799|440/932|| 22 50873355 . G T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|12/23|c.1401-40G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|12/22|c.1404-40G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|12/22|c.1401-40G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|12/22|c.1401-40G>T|||||| 22 50873356 . G T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|12/23|c.1401-39G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|12/22|c.1404-39G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|12/22|c.1401-39G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|12/22|c.1401-39G>T|||||| 22 50873415 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|13/24|c.1421G>A|p.Arg474His|1802/4103|1421/2880|474/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|13/23|c.1424G>A|p.Arg475His|1805/4025|1424/2802|475/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|13/23|c.1421G>A|p.Arg474His|1802/4021|1421/2784|474/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|13/23|c.1421G>A|p.Arg474His|1802/4022|1421/2799|474/932|| 22 50873450 . G T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|13/24|c.1456G>T|p.Ala486Ser|1837/4103|1456/2880|486/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|13/23|c.1459G>T|p.Ala487Ser|1840/4025|1459/2802|487/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|13/23|c.1456G>T|p.Ala486Ser|1837/4021|1456/2784|486/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|13/23|c.1456G>T|p.Ala486Ser|1837/4022|1456/2799|486/932|| 22 50873451 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|13/24|c.1457C>T|p.Ala486Val|1838/4103|1457/2880|486/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|13/23|c.1460C>T|p.Ala487Val|1841/4025|1460/2802|487/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|13/23|c.1457C>T|p.Ala486Val|1838/4021|1457/2784|486/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|13/23|c.1457C>T|p.Ala486Val|1838/4022|1457/2799|486/932|| 22 50873497 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|13/24|c.1503C>T|p.Ser501Ser|1884/4103|1503/2880|501/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|13/23|c.1506C>T|p.Ser502Ser|1887/4025|1506/2802|502/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|13/23|c.1503C>T|p.Ser501Ser|1884/4021|1503/2784|501/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|13/23|c.1503C>T|p.Ser501Ser|1884/4022|1503/2799|501/932|| 22 50873542 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|13/23|c.1516+32G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|13/22|c.1519+32G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|13/22|c.1516+32G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|13/22|c.1516+32G>A|||||| 22 50873546 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|13/23|c.1516+36C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|13/22|c.1519+36C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|13/22|c.1516+36C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|13/22|c.1516+36C>T|||||| 22 50873557 . A G . . ANN=G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|13/23|c.1516+47A>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|13/22|c.1519+47A>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|13/22|c.1516+47A>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|13/22|c.1516+47A>G|||||| 22 50874850 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|14/24|c.1571C>T|p.Thr524Met|1952/4103|1571/2880|524/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/23|c.1574C>T|p.Thr525Met|1955/4025|1574/2802|525/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/23|c.1571C>T|p.Thr524Met|1952/4021|1571/2784|524/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/23|c.1571C>T|p.Thr524Met|1952/4022|1571/2799|524/932|| 22 50874851 . G A . . ANN=A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|14/24|c.1572G>A|p.Thr524Thr|1953/4103|1572/2880|524/959||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/23|c.1575G>A|p.Thr525Thr|1956/4025|1575/2802|525/933||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/23|c.1572G>A|p.Thr524Thr|1953/4021|1572/2784|524/927||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/23|c.1572G>A|p.Thr524Thr|1953/4022|1572/2799|524/932|| 22 50874873 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|14/24|c.1594G>A|p.Val532Met|1975/4103|1594/2880|532/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/23|c.1597G>A|p.Val533Met|1978/4025|1597/2802|533/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/23|c.1594G>A|p.Val532Met|1975/4021|1594/2784|532/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/23|c.1594G>A|p.Val532Met|1975/4022|1594/2799|532/932|| 22 50874893 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|14/23|c.1602+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/22|c.1605+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/22|c.1602+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/22|c.1602+12C>T|||||| 22 50874899 . T C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|14/23|c.1602+18T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/22|c.1605+18T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/22|c.1602+18T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/22|c.1602+18T>C|||||| 22 50874918 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|14/23|c.1602+37C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/22|c.1605+37C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/22|c.1602+37C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/22|c.1602+37C>T|||||| 22 50874929 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|14/23|c.1602+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/22|c.1605+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/22|c.1602+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/22|c.1602+48C>T|||||| 22 50874930 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|14/23|c.1602+49G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/22|c.1605+49G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/22|c.1602+49G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/22|c.1602+49G>A|||||| 22 50875908 . GTCCC G . . ANN=G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|15/23|c.1684-26_1684-23delTCCC||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|14/22|c.1606-26_1606-23delTCCC||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|14/22|c.1603-26_1603-23delTCCC||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|14/22|c.1603-26_1603-23delTCCC|||||| 22 50876021 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|16/24|c.1770C>T|p.Asp590Asp|2151/4103|1770/2880|590/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|15/23|c.1692C>T|p.Asp564Asp|2073/4025|1692/2802|564/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|15/23|c.1689C>T|p.Asp563Asp|2070/4021|1689/2784|563/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|15/23|c.1689C>T|p.Asp563Asp|2070/4022|1689/2799|563/932|| 22 50876050 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|16/23|c.1781+18G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|15/22|c.1703+18G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|15/22|c.1700+18G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|15/22|c.1700+18G>A|||||| 22 50876065 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|16/23|c.1781+33C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|15/22|c.1703+33C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|15/22|c.1700+33C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|15/22|c.1700+33C>T|||||| 22 50876077 . T C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|16/23|c.1781+45T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|15/22|c.1703+45T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|15/22|c.1700+45T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|15/22|c.1700+45T>C|||||| 22 50876081 . G C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|16/23|c.1781+49G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|15/22|c.1703+49G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|15/22|c.1700+49G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|15/22|c.1700+49G>C|||||| 22 50876235 . T C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|16/23|c.1782-37T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|15/22|c.1704-37T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|15/22|c.1701-37T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|15/22|c.1701-37T>C|||||| 22 50876243 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|16/23|c.1782-29C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|15/22|c.1704-29C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|15/22|c.1701-29C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|15/22|c.1701-29C>T|||||| 22 50876357 . C G . . ANN=G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|17/23|c.1839+28C>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|16/22|c.1761+28C>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|16/22|c.1758+28C>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|16/22|c.1758+28C>G|||||| 22 50876640 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/24|c.1877G>A|p.Arg626His|2258/4103|1877/2880|626/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/23|c.1799G>A|p.Arg600His|2180/4025|1799/2802|600/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/23|c.1796G>A|p.Arg599His|2177/4021|1796/2784|599/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/23|c.1796G>A|p.Arg599His|2177/4022|1796/2799|599/932|| 22 50876662 . T G . . ANN=G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/24|c.1899T>G|p.Asp633Glu|2280/4103|1899/2880|633/959||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/23|c.1821T>G|p.Asp607Glu|2202/4025|1821/2802|607/933||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/23|c.1818T>G|p.Asp606Glu|2199/4021|1818/2784|606/927||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/23|c.1818T>G|p.Asp606Glu|2199/4022|1818/2799|606/932|| 22 50876708 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/24|c.1945C>T|p.Arg649Trp|2326/4103|1945/2880|649/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/23|c.1867C>T|p.Arg623Trp|2248/4025|1867/2802|623/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/23|c.1864C>T|p.Arg622Trp|2245/4021|1864/2784|622/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/23|c.1864C>T|p.Arg622Trp|2245/4022|1864/2799|622/932|| 22 50876731 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/23|c.1964+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/22|c.1886+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/22|c.1883+4C>T||||||,T|splice_region_variant&intron_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/22|c.1883+4C>T|||||| 22 50876755 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/23|c.1964+28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/22|c.1886+28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/22|c.1883+28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/22|c.1883+28C>T|||||| 22 50876761 . C A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/23|c.1964+34C>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/22|c.1886+34C>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/22|c.1883+34C>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/22|c.1883+34C>A|||||| 22 50876767 . A G . . ANN=G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/23|c.1964+40A>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/22|c.1886+40A>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/22|c.1883+40A>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/22|c.1883+40A>G|||||| 22 50876770 . T C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/23|c.1964+43T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/22|c.1886+43T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/22|c.1883+43T>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/22|c.1883+43T>C|||||| 22 50876775 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|18/23|c.1964+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|17/22|c.1886+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|17/22|c.1883+48C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|17/22|c.1883+48C>T|||||| 22 50877144 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|19/24|c.2081C>T|p.Pro694Leu|2462/4103|2081/2880|694/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|18/23|c.2003C>T|p.Pro668Leu|2384/4025|2003/2802|668/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|18/23|c.2000C>T|p.Pro667Leu|2381/4021|2000/2784|667/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|18/23|c.2000C>T|p.Pro667Leu|2381/4022|2000/2799|667/932|| 22 50877156 . A C . . ANN=C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|19/24|c.2093A>C|p.Lys698Thr|2474/4103|2093/2880|698/959||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|18/23|c.2015A>C|p.Lys672Thr|2396/4025|2015/2802|672/933||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|18/23|c.2012A>C|p.Lys671Thr|2393/4021|2012/2784|671/927||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|18/23|c.2012A>C|p.Lys671Thr|2393/4022|2012/2799|671/932|| 22 50877165 . CG C . . ANN=C|frameshift_variant|HIGH|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|19/24|c.2103delG|p.Ala701fs|2484/4103|2103/2880|701/959||,C|frameshift_variant|HIGH|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|18/23|c.2025delG|p.Ala675fs|2406/4025|2025/2802|675/933||,C|frameshift_variant|HIGH|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|18/23|c.2022delG|p.Ala674fs|2403/4021|2022/2784|674/927||,C|frameshift_variant|HIGH|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|18/23|c.2022delG|p.Ala674fs|2403/4022|2022/2799|674/932||;LOF=(PPP6R2|PPP6R2|4|1.00) 22 50877166 . G C . . ANN=C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|19/24|c.2103G>C|p.Ala701Ala|2484/4103|2103/2880|701/959||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|18/23|c.2025G>C|p.Ala675Ala|2406/4025|2025/2802|675/933||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|18/23|c.2022G>C|p.Ala674Ala|2403/4021|2022/2784|674/927||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|18/23|c.2022G>C|p.Ala674Ala|2403/4022|2022/2799|674/932|| 22 50877170 . C G . . ANN=G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|19/24|c.2107C>G|p.Pro703Ala|2488/4103|2107/2880|703/959||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|18/23|c.2029C>G|p.Pro677Ala|2410/4025|2029/2802|677/933||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|18/23|c.2026C>G|p.Pro676Ala|2407/4021|2026/2784|676/927||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|18/23|c.2026C>G|p.Pro676Ala|2407/4022|2026/2799|676/932|| 22 50877203 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|19/23|c.2128+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|18/22|c.2050+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|18/22|c.2047+12C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|18/22|c.2047+12C>T|||||| 22 50877216 . G C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|19/23|c.2128+25G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|18/22|c.2050+25G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|18/22|c.2047+25G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|18/22|c.2047+25G>C|||||| 22 50877229 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|19/23|c.2128+38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|18/22|c.2050+38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|18/22|c.2047+38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|18/22|c.2047+38G>A|||||| 22 50878134 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|20/24|c.2133C>T|p.Ala711Ala|2514/4103|2133/2880|711/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|19/23|c.2055C>T|p.Ala685Ala|2436/4025|2055/2802|685/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|19/23|c.2055C>T|p.Ala685Ala|2436/4021|2055/2784|685/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|19/23|c.2052C>T|p.Ala684Ala|2433/4022|2052/2799|684/932|| 22 50878143 . G A . . ANN=A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|20/24|c.2142G>A|p.Thr714Thr|2523/4103|2142/2880|714/959||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|19/23|c.2064G>A|p.Thr688Thr|2445/4025|2064/2802|688/933||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|19/23|c.2064G>A|p.Thr688Thr|2445/4021|2064/2784|688/927||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|19/23|c.2061G>A|p.Thr687Thr|2442/4022|2061/2799|687/932|| 22 50878183 . C G . . ANN=G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|20/24|c.2182C>G|p.Pro728Ala|2563/4103|2182/2880|728/959||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|19/23|c.2104C>G|p.Pro702Ala|2485/4025|2104/2802|702/933||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|19/23|c.2104C>G|p.Pro702Ala|2485/4021|2104/2784|702/927||,G|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|19/23|c.2101C>G|p.Pro701Ala|2482/4022|2101/2799|701/932|| 22 50878196 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|20/24|c.2195G>A|p.Arg732Lys|2576/4103|2195/2880|732/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|19/23|c.2117G>A|p.Arg706Lys|2498/4025|2117/2802|706/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|19/23|c.2117G>A|p.Arg706Lys|2498/4021|2117/2784|706/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|19/23|c.2114G>A|p.Arg705Lys|2495/4022|2114/2799|705/932|| 22 50878275 . A G . . ANN=G|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|20/24|c.2274A>G|p.Gln758Gln|2655/4103|2274/2880|758/959||,G|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|19/23|c.2196A>G|p.Gln732Gln|2577/4025|2196/2802|732/933||,G|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|19/23|c.2196A>G|p.Gln732Gln|2577/4021|2196/2784|732/927||,G|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|19/23|c.2193A>G|p.Gln731Gln|2574/4022|2193/2799|731/932|| 22 50878306 . G C . . ANN=C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|20/23|c.2285+20G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|19/22|c.2207+20G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|19/22|c.2207+20G>C||||||,C|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|19/22|c.2204+20G>C|||||| 22 50878409 . T A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|21/24|c.2305T>A|p.Cys769Ser|2686/4103|2305/2880|769/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|20/23|c.2227T>A|p.Cys743Ser|2608/4025|2227/2802|743/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|20/23|c.2227T>A|p.Cys743Ser|2608/4021|2227/2784|743/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|20/23|c.2224T>A|p.Cys742Ser|2605/4022|2224/2799|742/932|| 22 50878419 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|21/24|c.2315C>T|p.Pro772Leu|2696/4103|2315/2880|772/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|20/23|c.2237C>T|p.Pro746Leu|2618/4025|2237/2802|746/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|20/23|c.2237C>T|p.Pro746Leu|2618/4021|2237/2784|746/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|20/23|c.2234C>T|p.Pro745Leu|2615/4022|2234/2799|745/932|| 22 50878441 . T C . . ANN=C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|21/24|c.2337T>C|p.His779His|2718/4103|2337/2880|779/959||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|20/23|c.2259T>C|p.His753His|2640/4025|2259/2802|753/933||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|20/23|c.2259T>C|p.His753His|2640/4021|2259/2784|753/927||,C|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|20/23|c.2256T>C|p.His752His|2637/4022|2256/2799|752/932|| 22 50878449 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|21/24|c.2345G>A|p.Gly782Asp|2726/4103|2345/2880|782/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|20/23|c.2267G>A|p.Gly756Asp|2648/4025|2267/2802|756/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|20/23|c.2267G>A|p.Gly756Asp|2648/4021|2267/2784|756/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|20/23|c.2264G>A|p.Gly755Asp|2645/4022|2264/2799|755/932|| 22 50879257 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|22/24|c.2381C>T|p.Pro794Leu|2762/4103|2381/2880|794/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|21/23|c.2303C>T|p.Pro768Leu|2684/4025|2303/2802|768/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|21/23|c.2303C>T|p.Pro768Leu|2684/4021|2303/2784|768/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|21/23|c.2300C>T|p.Pro767Leu|2681/4022|2300/2799|767/932|| 22 50879346 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|22/24|c.2470G>A|p.Glu824Lys|2851/4103|2470/2880|824/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|21/23|c.2392G>A|p.Glu798Lys|2773/4025|2392/2802|798/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|21/23|c.2392G>A|p.Glu798Lys|2773/4021|2392/2784|798/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|21/23|c.2389G>A|p.Glu797Lys|2770/4022|2389/2799|797/932|| 22 50879354 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|22/24|c.2478C>T|p.Gly826Gly|2859/4103|2478/2880|826/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|21/23|c.2400C>T|p.Gly800Gly|2781/4025|2400/2802|800/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|21/23|c.2400C>T|p.Gly800Gly|2781/4021|2400/2784|800/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|21/23|c.2397C>T|p.Gly799Gly|2778/4022|2397/2799|799/932|| 22 50879355 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|22/24|c.2479G>A|p.Asp827Asn|2860/4103|2479/2880|827/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|21/23|c.2401G>A|p.Asp801Asn|2782/4025|2401/2802|801/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|21/23|c.2401G>A|p.Asp801Asn|2782/4021|2401/2784|801/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|21/23|c.2398G>A|p.Asp800Asn|2779/4022|2398/2799|800/932|| 22 50879373 . G C . . ANN=C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|22/24|c.2497G>C|p.Ala833Pro|2878/4103|2497/2880|833/959||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|21/23|c.2419G>C|p.Ala807Pro|2800/4025|2419/2802|807/933||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|21/23|c.2419G>C|p.Ala807Pro|2800/4021|2419/2784|807/927||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|21/23|c.2416G>C|p.Ala806Pro|2797/4022|2416/2799|806/932|| 22 50879447 . T G . . ANN=G|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|22/24|c.2571T>G|p.Ala857Ala|2952/4103|2571/2880|857/959||,G|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|21/23|c.2493T>G|p.Ala831Ala|2874/4025|2493/2802|831/933||,G|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|21/23|c.2493T>G|p.Ala831Ala|2874/4021|2493/2784|831/927||,G|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|21/23|c.2490T>G|p.Ala830Ala|2871/4022|2490/2799|830/932|| 22 50879471 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|22/23|c.2579+16C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|21/22|c.2501+16C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|21/22|c.2501+16C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|21/22|c.2498+16C>T|||||| 22 50879486 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|22/23|c.2579+31C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|21/22|c.2501+31C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|21/22|c.2501+31C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|21/22|c.2498+31C>T|||||| 22 50882314 . C T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2599C>T|p.Arg867Trp|2980/4103|2599/2880|867/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2521C>T|p.Arg841Trp|2902/4025|2521/2802|841/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2521C>T|p.Arg841Trp|2902/4021|2521/2784|841/927||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2518C>T|p.Arg840Trp|2899/4022|2518/2799|840/932|| 22 50882317 . C A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2602C>A|p.Leu868Met|2983/4103|2602/2880|868/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2524C>A|p.Leu842Met|2905/4025|2524/2802|842/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2524C>A|p.Leu842Met|2905/4021|2524/2784|842/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2521C>A|p.Leu841Met|2902/4022|2521/2799|841/932|| 22 50882323 . A C . . ANN=C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2608A>C|p.Ser870Arg|2989/4103|2608/2880|870/959||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2530A>C|p.Ser844Arg|2911/4025|2530/2802|844/933||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2530A>C|p.Ser844Arg|2911/4021|2530/2784|844/927||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2527A>C|p.Ser843Arg|2908/4022|2527/2799|843/932|| 22 50882338 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2623G>A|p.Ala875Thr|3004/4103|2623/2880|875/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2545G>A|p.Ala849Thr|2926/4025|2545/2802|849/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2545G>A|p.Ala849Thr|2926/4021|2545/2784|849/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2542G>A|p.Ala848Thr|2923/4022|2542/2799|848/932|| 22 50882367 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2652C>T|p.Ala884Ala|3033/4103|2652/2880|884/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2574C>T|p.Ala858Ala|2955/4025|2574/2802|858/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2574C>T|p.Ala858Ala|2955/4021|2574/2784|858/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2571C>T|p.Ala857Ala|2952/4022|2571/2799|857/932|| 22 50882368 . G A . . ANN=A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2653G>A|p.Val885Met|3034/4103|2653/2880|885/959||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2575G>A|p.Val859Met|2956/4025|2575/2802|859/933||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2575G>A|p.Val859Met|2956/4021|2575/2784|859/927||,A|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2572G>A|p.Val858Met|2953/4022|2572/2799|858/932|| 22 50882376 . G A . . ANN=A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2661G>A|p.Val887Val|3042/4103|2661/2880|887/959||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2583G>A|p.Val861Val|2964/4025|2583/2802|861/933||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2583G>A|p.Val861Val|2964/4021|2583/2784|861/927||,A|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2580G>A|p.Val860Val|2961/4022|2580/2799|860/932|| 22 50882427 . C T . . ANN=T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2712C>T|p.Pro904Pro|3093/4103|2712/2880|904/959||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2634C>T|p.Pro878Pro|3015/4025|2634/2802|878/933||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2634C>T|p.Pro878Pro|3015/4021|2634/2784|878/927||,T|synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2631C>T|p.Pro877Pro|3012/4022|2631/2799|877/932|| 22 50882428 . G C . . ANN=C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2713G>C|p.Ala905Pro|3094/4103|2713/2880|905/959||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2635G>C|p.Ala879Pro|3016/4025|2635/2802|879/933||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2635G>C|p.Ala879Pro|3016/4021|2635/2784|879/927||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2632G>C|p.Ala878Pro|3013/4022|2632/2799|878/932|| 22 50882544 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/24|c.2829C>T|p.Asp943Asp|3210/4103|2829/2880|943/959||,T|splice_region_variant&synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/23|c.2751C>T|p.Asp917Asp|3132/4025|2751/2802|917/933||,T|splice_region_variant&synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/23|c.2751C>T|p.Asp917Asp|3132/4021|2751/2784|917/927||,T|splice_region_variant&synonymous_variant|LOW|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/23|c.2748C>T|p.Asp916Asp|3129/4022|2748/2799|916/932|| 22 50882572 . G T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/23|c.2831+26G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/22|c.2753+26G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/22|c.2753+26G>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/22|c.2750+26G>T|||||| 22 50882589 . C G . . ANN=G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/23|c.2832-39C>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/22|c.2754-39C>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/22|c.2753+43C>G||||||,G|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/22|c.2751-39C>G|||||| 22 50882590 . G A . . ANN=A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/23|c.2832-38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/22|c.2754-38G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/22|c.2754-42G>A||||||,A|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/22|c.2751-38G>A|||||| 22 50882600 . C T . . ANN=T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|23/23|c.2832-28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|22/22|c.2754-28C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|22/22|c.2754-32C>T||||||,T|intron_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|22/22|c.2751-28C>T|||||| 22 50882635 . G C . . ANN=C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|24/24|c.2839G>C|p.Asp947His|3220/4103|2839/2880|947/959||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|23/23|c.2761G>C|p.Asp921His|3142/4025|2761/2802|921/933||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|23/23|c.2757G>C|p.Gln919His|3138/4021|2757/2784|919/927||,C|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|23/23|c.2758G>C|p.Asp920His|3139/4022|2758/2799|920/932|| 22 50882671 . G T . . ANN=T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242898.1|Coding|24/24|c.2875G>T|p.Val959Leu|3256/4103|2875/2880|959/959||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_001242899.1|Coding|23/23|c.2797G>T|p.Val933Leu|3178/4025|2797/2802|933/933||,T|missense_variant|MODERATE|PPP6R2|PPP6R2|transcript|NM_014678.4|Coding|23/23|c.2794G>T|p.Val932Leu|3175/4022|2794/2799|932/932||,T|3_prime_UTR_variant|MODIFIER|PPP6R2|PPP6R2|transcript|NM_001242900.1|Coding|23/23|c.*9G>T|||||9| 22 50920375 . C T . . ANN=T|synonymous_variant|LOW|ADM2|ADM2|transcript|NM_001253845.1|Coding|2/3|c.99C>T|p.Pro33Pro|150/4032|99/447|33/148||,T|synonymous_variant|LOW|ADM2|ADM2|transcript|NM_024866.5|Coding|1/2|c.99C>T|p.Pro33Pro|391/4273|99/447|33/148|| 22 50921076 . G A . . ANN=A|missense_variant|MODERATE|ADM2|ADM2|transcript|NM_001253845.1|Coding|3/3|c.191G>A|p.Arg64Gln|242/4032|191/447|64/148||,A|missense_variant|MODERATE|ADM2|ADM2|transcript|NM_024866.5|Coding|2/2|c.191G>A|p.Arg64Gln|483/4273|191/447|64/148|| 22 50921129 . C T . . ANN=T|missense_variant|MODERATE|ADM2|ADM2|transcript|NM_001253845.1|Coding|3/3|c.244C>T|p.Leu82Phe|295/4032|244/447|82/148||,T|missense_variant|MODERATE|ADM2|ADM2|transcript|NM_024866.5|Coding|2/2|c.244C>T|p.Leu82Phe|536/4273|244/447|82/148|| 22 50921132 . C A . . ANN=A|synonymous_variant|LOW|ADM2|ADM2|transcript|NM_001253845.1|Coding|3/3|c.247C>A|p.Arg83Arg|298/4032|247/447|83/148||,A|synonymous_variant|LOW|ADM2|ADM2|transcript|NM_024866.5|Coding|2/2|c.247C>A|p.Arg83Arg|539/4273|247/447|83/148|| 22 50921148 . AACACTCGGGCCCCCGAAG A . . ANN=|disruptive_inframe_deletion|MODERATE|ADM2|ADM2|transcript|NM_001253845.1|Coding|3/3|c.279_296delAAGACACTCGGGCCCCCG|p.Arg94_Arg99del|330/4032|279/447|93/148||INFO_REALIGN_3_PRIME,|disruptive_inframe_deletion|MODERATE|ADM2|ADM2|transcript|NM_024866.5|Coding|2/2|c.279_296delAAGACACTCGGGCCCCCG|p.Arg94_Arg99del|571/4273|279/447|93/148||INFO_REALIGN_3_PRIME 22 50921154 . CGGGCCCCCGAAGACA C . . ANN=C|disruptive_inframe_deletion|MODERATE|ADM2|ADM2|transcript|NM_001253845.1|Coding|3/3|c.270_284delGGGCCCCCGAAGACA|p.Gly91_His95del|321/4032|270/447|90/148||,C|disruptive_inframe_deletion|MODERATE|ADM2|ADM2|transcript|NM_024866.5|Coding|2/2|c.270_284delGGGCCCCCGAAGACA|p.Gly91_His95del|562/4273|270/447|90/148|| 22 50925285 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|1/10|c.-42G>A|||||42| 22 50925298 . T A . . ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|1/10|c.-29T>A||||||,A|5_prime_UTR_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|1/10|c.-29T>A|||||29| 22 50925765 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|1/9|c.16-49C>T|||||| 22 50925771 . G A . . ANN=A|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|1/9|c.16-43G>A|||||| 22 50925908 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|2/9|c.96+14C>T|||||| 22 50925914 . GC G . . ANN=G|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|2/9|c.96+21delC|||||| 22 50925943 . G A . . ANN=A|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|2/9|c.96+49G>A|||||| 22 50926045 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|2/9|c.97-46C>T|||||| 22 50926070 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|2/9|c.97-21C>T|||||| 22 50926082 . G A . . ANN=A|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|2/9|c.97-9G>A|||||| 22 50926132 . C T . . ANN=T|synonymous_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|3/10|c.138C>T|p.Leu46Leu|252/1437|138/858|46/285|| 22 50926181 . T G . . ANN=G|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|3/9|c.177+10T>G|||||| 22 50926192 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|3/9|c.177+21C>T|||||| 22 50926366 . G A . . ANN=A|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|4/10|c.229G>A|p.Val77Met|343/1437|229/858|77/285|| 22 50926407 . C T . . ANN=T|synonymous_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|4/10|c.270C>T|p.Asp90Asp|384/1437|270/858|90/285|| 22 50926439 . A G . . ANN=G|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|4/10|c.302A>G|p.Gln101Arg|416/1437|302/858|101/285|| 22 50926466 . A G . . ANN=G|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|4/10|c.329A>G|p.His110Arg|443/1437|329/858|110/285|| 22 50926657 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|4/9|c.341-47C>T|||||| 22 50926731 . A G . . ANN=G|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|5/10|c.368A>G|p.His123Arg|482/1437|368/858|123/285|| 22 50926765 . G T . . ANN=T|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|5/10|c.402G>T|p.Glu134Asp|516/1437|402/858|134/285|| 22 50926768 . C T . . ANN=T|synonymous_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|5/10|c.405C>T|p.Pro135Pro|519/1437|405/858|135/285|| 22 50927441 . G GACTCCCGTC,GCCGCCCGTC . . ANN=GACTCCCGTC|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|5/9|c.409-28_409-27insACTCCCGTC||||||,GCCGCCCGTC|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|5/9|c.409-28_409-27insCCGCCCGTC|||||| 22 50927442 . C A . . ANN=A|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|5/9|c.409-27C>A|||||| 22 50927447 . C CGTCCCTCCT . . ANN=CGTCCCTCCT|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|5/9|c.409-22_409-21insGTCCCTCCT|||||| 22 50927545 . A T . . ANN=T|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|6/10|c.485A>T|p.Gln162Leu|599/1437|485/858|162/285|| 22 50927563 . A G . . ANN=G|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|6/10|c.503A>G|p.Gln168Arg|617/1437|503/858|168/285|| 22 50927618 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|6/9|c.519-39C>T|||||| 22 50927693 . C T . . ANN=T|synonymous_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|7/10|c.555C>T|p.Leu185Leu|669/1437|555/858|185/285|| 22 50927745 . TGGGGCGGTGG T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|7/9|c.586+22_586+31delGGGGCGGTGG|||||| 22 50927769 . A G . . ANN=G|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|7/9|c.586+45A>G|||||| 22 50927779 . G A . . ANN=A|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|7/9|c.587-47G>A|||||| 22 50927870 . C T . . ANN=T|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|8/10|c.631C>T|p.Pro211Ser|745/1437|631/858|211/285|| 22 50927916 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|8/9|c.636+41C>T|||||| 22 50927937 . G A . . ANN=A|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|8/9|c.637-24G>A|||||| 22 50927956 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|8/9|c.637-5C>T|||||| 22 50927976 . C T . . ANN=T|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|9/10|c.652C>T|p.Arg218Trp|766/1437|652/858|218/285|| 22 50927990 . C T . . ANN=T|synonymous_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|9/10|c.666C>T|p.Phe222Phe|780/1437|666/858|222/285|| 22 50928005 . G A . . ANN=A|synonymous_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|9/10|c.681G>A|p.Thr227Thr|795/1437|681/858|227/285|| 22 50928010 . G A . . ANN=A|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|9/10|c.686G>A|p.Arg229His|800/1437|686/858|229/285|| 22 50928012 . G A . . ANN=A|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|9/10|c.688G>A|p.Asp230Asn|802/1437|688/858|230/285|| 22 50928026 . G A . . ANN=A|synonymous_variant|LOW|MIOX|MIOX|transcript|NM_017584.5|Coding|9/10|c.702G>A|p.Leu234Leu|816/1437|702/858|234/285|| 22 50928082 . C T . . ANN=T|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|9/9|c.749+9C>T|||||| 22 50928083 . G A . . ANN=A|intron_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|9/9|c.749+10G>A|||||| 22 50928179 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|10/10|c.752A>G|p.Lys251Arg|866/1437|752/858|251/285|| 22 50928217 . G A . . ANN=A|missense_variant|MODERATE|MIOX|MIOX|transcript|NM_017584.5|Coding|10/10|c.790G>A|p.Val264Met|904/1437|790/858|264/285|| 22 50928311 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|10/10|c.*26G>A|||||26| 22 50928312 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|10/10|c.*27G>A|||||27| 22 50928331 . G A . . ANN=A|3_prime_UTR_variant|MODIFIER|MIOX|MIOX|transcript|NM_017584.5|Coding|10/10|c.*46G>A|||||46| 22 50954868 . T C . . ANN=C|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|1/19|c.109-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|1/8|c.109-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|1/19|c.109-8T>C|||||| 22 50954990 . T TC . . ANN=TC|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|2/19|c.210+13_210+14insC||||||,TC|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|2/8|c.210+13_210+14insC||||||,TC|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|2/19|c.210+13_210+14insC|||||| 22 50955833 . C T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|2/19|c.211-23C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|2/8|c.211-23C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|2/19|c.211-23C>T|||||| 22 50955946 . A G . . ANN=G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|3/19|c.266+35A>G||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|3/8|c.266+35A>G||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|3/19|c.266+35A>G|||||| 22 50955980 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|3/19|c.267-26G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|3/8|c.267-26G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|3/19|c.267-26G>A|||||| 22 50956026 . C T . . ANN=T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|4/20|c.287C>T|p.Ser96Leu|409/3348|287/1821|96/606||,T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|4/9|c.287C>T|p.Ser96Leu|409/1425|287/900|96/299||,T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|4/20|c.287C>T|p.Ser96Leu|409/3345|287/1818|96/605|| 22 50956071 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|4/20|c.332C>G|p.Pro111Arg|454/3348|332/1821|111/606||,G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|4/9|c.332C>G|p.Pro111Arg|454/1425|332/900|111/299||,G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|4/20|c.332C>G|p.Pro111Arg|454/3345|332/1818|111/605|| 22 50956116 . C T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|4/19|c.351+26C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|4/8|c.351+26C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|4/19|c.351+26C>T|||||| 22 50956117 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|4/19|c.351+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|4/8|c.351+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|4/19|c.351+27G>A|||||| 22 50956142 . C T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|4/19|c.352-28C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|4/8|c.352-28C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|4/19|c.352-28C>T|||||| 22 50956174 . T C . . ANN=C|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|5/20|c.356T>C|p.Leu119Pro|478/3348|356/1821|119/606||,C|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|5/9|c.356T>C|p.Leu119Pro|478/1425|356/900|119/299||,C|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|5/20|c.356T>C|p.Leu119Pro|478/3345|356/1818|119/605|| 22 50956237 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|5/20|c.419G>A|p.Ser140Asn|541/3348|419/1821|140/606||,A|missense_variant&splice_region_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|5/9|c.419G>A|p.Ser140Asn|541/1425|419/900|140/299||,A|missense_variant&splice_region_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|5/20|c.419G>A|p.Ser140Asn|541/3345|419/1818|140/605|| 22 50956370 . G T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|5/19|c.421-32G>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|5/8|c.421-32G>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|5/19|c.421-32G>T|||||| 22 50956386 . C A,G,T . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|5/19|c.421-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|5/19|c.421-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|5/19|c.421-16C>T||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|5/8|c.421-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|5/8|c.421-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|5/8|c.421-16C>T||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|5/19|c.421-16C>A||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|5/19|c.421-16C>G||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|5/19|c.421-16C>T|||||| 22 50956395 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|5/19|c.421-7C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|5/8|c.421-7C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|5/19|c.421-7C>T|||||| 22 50956501 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|6/19|c.500+20G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|6/8|c.500+20G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|6/19|c.500+20G>A|||||| 22 50956503 . C T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|6/19|c.500+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|6/8|c.500+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|6/19|c.500+22C>T|||||| 22 50956510 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|6/19|c.500+29G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|6/8|c.500+29G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|6/19|c.500+29G>A|||||| 22 50956610 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|7/20|c.549G>A|p.Thr183Thr|671/3348|549/1821|183/606||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|7/9|c.549G>A|p.Thr183Thr|671/1425|549/900|183/299||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|7/20|c.549G>A|p.Thr183Thr|671/3345|549/1818|183/605|| 22 50956614 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|7/20|c.553G>A|p.Val185Ile|675/3348|553/1821|185/606||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|7/9|c.553G>A|p.Val185Ile|675/1425|553/900|185/299||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|7/20|c.553G>A|p.Val185Ile|675/3345|553/1818|185/605|| 22 50956676 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|7/20|c.615G>A|p.Ala205Ala|737/3348|615/1821|205/606||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|7/9|c.615G>A|p.Ala205Ala|737/1425|615/900|205/299||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|7/20|c.615G>A|p.Ala205Ala|737/3345|615/1818|205/605|| 22 50956723 . C T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|7/19|c.646+16C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|7/8|c.646+16C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|7/19|c.646+16C>T|||||| 22 50956724 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|7/19|c.646+17G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|7/8|c.646+17G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|7/19|c.646+17G>A|||||| 22 50956742 . GA G . . ANN=G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|7/19|c.646+36delA||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|7/8|c.646+36delA||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|7/19|c.646+36delA|||||| 22 50957115 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|8/20|c.684C>T|p.Ser228Ser|806/3348|684/1821|228/606||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|8/9|c.684C>T|p.Ser228Ser|806/1425|684/900|228/299||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|8/20|c.684C>T|p.Ser228Ser|806/3345|684/1818|228/605|| 22 50957143 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|8/20|c.712G>A|p.Gly238Ser|834/3348|712/1821|238/606||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|8/9|c.712G>A|p.Gly238Ser|834/1425|712/900|238/299||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|8/20|c.712G>A|p.Gly238Ser|834/3345|712/1818|238/605|| 22 50957150 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|8/20|c.719C>G|p.Ser240Cys|841/3348|719/1821|240/606||,G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|8/9|c.719C>G|p.Ser240Cys|841/1425|719/900|240/299||,G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|8/20|c.719C>G|p.Ser240Cys|841/3345|719/1818|240/605|| 22 50957180 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|8/19|c.730+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|8/8|c.730+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|8/19|c.730+19G>A|||||| 22 50957183 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|8/19|c.730+22G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|8/8|c.730+22G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|8/19|c.730+22G>A|||||| 22 50957598 . A G . . ANN=G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|8/19|c.731-21A>G||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|8/8|c.731-21A>G||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|8/19|c.731-21A>G|||||| 22 50957625 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|9/20|c.737C>G|p.Ser246Cys|859/3348|737/1821|246/606||,G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|9/9|c.737C>G|p.Ser246Cys|859/1425|737/900|246/299||,G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|9/20|c.737C>G|p.Ser246Cys|859/3345|737/1818|246/605|| 22 50957701 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|9/20|c.813G>A|p.Ser271Ser|935/3348|813/1821|271/606||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|9/9|c.813G>A|p.Ser271Ser|935/1425|813/900|271/299||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|9/20|c.813G>A|p.Ser271Ser|935/3345|813/1818|271/605|| 22 50957733 . C T . . ANN=T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|9/20|c.845C>T|p.Ser282Phe|967/3348|845/1821|282/606||,T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|9/9|c.845C>T|p.Ser282Phe|967/1425|845/900|282/299||,T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|9/20|c.845C>T|p.Ser282Phe|967/3345|845/1818|282/605|| 22 50957827 . A G . . ANN=G|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_014551.4|Coding|9/9|c.*39A>G|||||39|,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|9/19|c.861+78A>G||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|9/19|c.861+78A>G|||||| 22 50959456 . C G . . ANN=G|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|10/20|c.924C>G|p.Ser308Ser|1046/3348|924/1821|308/606||,G|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|10/20|c.924C>G|p.Ser308Ser|1046/3345|924/1818|308/605|| 22 50959478 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|10/19|c.933+13G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|10/19|c.933+13G>A|||||| 22 50959949 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|10/19|c.934-23G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|10/19|c.934-23G>A|||||| 22 50960010 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|11/20|c.972C>T|p.Asp324Asp|1094/3348|972/1821|324/606||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|11/20|c.972C>T|p.Asp324Asp|1094/3345|972/1818|324/605|| 22 50960125 . C T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|11/19|c.1001-45C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|11/19|c.1001-45C>T|||||| 22 50960172 . A G . . ANN=G|missense_variant&splice_region_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|12/20|c.1003A>G|p.Arg335Gly|1125/3348|1003/1821|335/606||,G|missense_variant&splice_region_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|12/20|c.1003A>G|p.Arg335Gly|1125/3345|1003/1818|335/605|| 22 50960191 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|12/20|c.1022C>G|p.Pro341Arg|1144/3348|1022/1821|341/606||,G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|12/20|c.1022C>G|p.Pro341Arg|1144/3345|1022/1818|341/605|| 22 50960220 . C T . . ANN=T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|12/20|c.1051C>T|p.Arg351Cys|1173/3348|1051/1821|351/606||,T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|12/20|c.1051C>T|p.Arg351Cys|1173/3345|1051/1818|351/605|| 22 50960235 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|12/20|c.1066G>A|p.Ala356Thr|1188/3348|1066/1821|356/606||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|12/20|c.1066G>A|p.Ala356Thr|1188/3345|1066/1818|356/605|| 22 50960270 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|12/20|c.1101G>A|p.Leu367Leu|1223/3348|1101/1821|367/606||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|12/20|c.1101G>A|p.Leu367Leu|1223/3345|1101/1818|367/605|| 22 50960302 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|12/19|c.1108+25G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|12/19|c.1108+25G>A|||||| 22 50960316 . T TG . . ANN=TG|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|12/19|c.1108+39_1108+40insG||||||,TG|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|12/19|c.1108+39_1108+40insG|||||| 22 50960428 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|13/20|c.1122C>T|p.Ala374Ala|1244/3348|1122/1821|374/606||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|13/20|c.1122C>T|p.Ala374Ala|1244/3345|1122/1818|374/605|| 22 50960434 . C G . . ANN=G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|13/20|c.1128C>G|p.Ser376Arg|1250/3348|1128/1821|376/606||,G|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|13/20|c.1128C>G|p.Ser376Arg|1250/3345|1128/1818|376/605|| 22 50960439 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|13/20|c.1133G>A|p.Arg378Gln|1255/3348|1133/1821|378/606||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|13/20|c.1133G>A|p.Arg378Gln|1255/3345|1133/1818|378/605|| 22 50960445 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|13/20|c.1139G>A|p.Arg380Gln|1261/3348|1139/1821|380/606||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|13/20|c.1139G>A|p.Arg380Gln|1261/3345|1139/1818|380/605|| 22 50960682 . C T . . ANN=T|splice_donor_variant&intron_variant|HIGH|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|14/19|c.1233+2C>T||||||,T|splice_donor_variant&intron_variant|HIGH|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|14/19|c.1233+2C>T||||||;LOF=(NCAPH2|NCAPH2|3|0.67) 22 50960694 . G C . . ANN=C|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|14/19|c.1233+14G>C||||||,C|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|14/19|c.1233+14G>C|||||| 22 50960769 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|14/19|c.1234-3C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|14/19|c.1234-3C>T|||||| 22 50960790 . C A . . ANN=A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|15/20|c.1252C>A|p.Arg418Arg|1374/3348|1252/1821|418/606||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|15/20|c.1252C>A|p.Arg418Arg|1374/3345|1252/1818|418/605|| 22 50960791 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|15/20|c.1253G>A|p.Arg418Gln|1375/3348|1253/1821|418/606||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|15/20|c.1253G>A|p.Arg418Gln|1375/3345|1253/1818|418/605|| 22 50960792 . G A . . ANN=A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|15/20|c.1254G>A|p.Arg418Arg|1376/3348|1254/1821|418/606||,A|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|15/20|c.1254G>A|p.Arg418Arg|1376/3345|1254/1818|418/605|| 22 50960851 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|15/19|c.1306+7G>A||||||,A|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|15/19|c.1306+7G>A|||||| 22 50960852 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|15/19|c.1306+8C>T||||||,T|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|15/19|c.1306+8C>T|||||| 22 50960965 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|16/20|c.1345G>A|p.Glu449Lys|1467/3348|1345/1821|449/606||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|16/20|c.1342G>A|p.Glu448Lys|1464/3345|1342/1818|448/605|| 22 50960988 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|16/20|c.1368C>T|p.Ala456Ala|1490/3348|1368/1821|456/606||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|16/20|c.1365C>T|p.Ala455Ala|1487/3345|1365/1818|455/605|| 22 50960989 . G A . . ANN=A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|16/20|c.1369G>A|p.Ala457Thr|1491/3348|1369/1821|457/606||,A|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|16/20|c.1366G>A|p.Ala456Thr|1488/3345|1366/1818|456/605|| 22 50961020 . A T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|16/19|c.1378+22A>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|16/19|c.1375+22A>T|||||| 22 50961058 . C T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|16/19|c.1379-42C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|16/19|c.1376-42C>T|||||| 22 50961092 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|16/19|c.1379-8C>G||||||,G|splice_region_variant&intron_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|16/19|c.1376-8C>G|||||| 22 50961134 . G C . . ANN=C|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|17/20|c.1413G>C|p.Leu471Leu|1535/3348|1413/1821|471/606||,C|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|17/20|c.1410G>C|p.Leu470Leu|1532/3345|1410/1818|470/605|| 22 50961169 . A G . . ANN=G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|17/19|c.1428+20A>G||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|17/19|c.1425+20A>G|||||| 22 50961173 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|17/19|c.1428+24G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|17/19|c.1425+24G>A|||||| 22 50961211 . C G . . ANN=G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|17/19|c.1429-39C>G||||||,G|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|17/19|c.1426-39C>G|||||| 22 50961365 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|18/19|c.1530+14G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|18/19|c.1527+14G>A|||||| 22 50961373 . C T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|18/19|c.1530+22C>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|18/19|c.1527+22C>T|||||| 22 50961387 . C A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|18/19|c.1530+36C>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|18/19|c.1527+36C>A|||||| 22 50961418 . G T . . ANN=T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|18/19|c.1531-28G>T||||||,T|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|18/19|c.1528-28G>T|||||| 22 50961475 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|19/20|c.1560C>T|p.Thr520Thr|1682/3348|1560/1821|520/606||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|19/20|c.1557C>T|p.Thr519Thr|1679/3345|1557/1818|519/605|| 22 50961503 . C T . . ANN=T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|19/20|c.1588C>T|p.Pro530Ser|1710/3348|1588/1821|530/606||,T|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|19/20|c.1585C>T|p.Pro529Ser|1707/3345|1585/1818|529/605|| 22 50961521 . T C . . ANN=C|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|19/20|c.1606T>C|p.Cys536Arg|1728/3348|1606/1821|536/606||,C|missense_variant|MODERATE|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|19/20|c.1603T>C|p.Cys535Arg|1725/3345|1603/1818|535/605|| 22 50961536 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|19/20|c.1621C>T|p.Leu541Leu|1743/3348|1621/1821|541/606||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|19/20|c.1618C>T|p.Leu540Leu|1740/3345|1618/1818|540/605|| 22 50961614 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|19/19|c.1680+19G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|19/19|c.1677+19G>A|||||| 22 50961622 . G A . . ANN=A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|19/19|c.1680+27G>A||||||,A|intron_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|19/19|c.1677+27G>A|||||| 22 50961714 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.1731C>T|p.Ala577Ala|1853/3348|1731/1821|577/606||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.1728C>T|p.Ala576Ala|1850/3345|1728/1818|576/605|| 22 50961786 . C T . . ANN=T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.1803C>T|p.Pro601Pro|1925/3348|1803/1821|601/606||,T|synonymous_variant|LOW|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.1800C>T|p.Pro600Pro|1922/3345|1800/1818|600/605|| 22 50961816 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*12C>T|||||12| 22 50961842 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*38T>C|||||38|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*38T>C|||||38| 22 50961854 . T C . . ANN=C|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*50T>C|||||50|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*50T>C|||||50| 22 50962009 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*205C>T|||||205|,T|3_prime_UTR_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.*31G>A|||||31|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*205C>T|||||205|,T|3_prime_UTR_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.*31G>A|||||31|,T|3_prime_UTR_variant|MODIFIER|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.*31G>A|||||31|,T|3_prime_UTR_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.*31G>A|||||31| 22 50962057 . G A . . ANN=A|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.784C>T|p.Arg262Cys|991/1051|784/801|262/266||,A|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.784C>T|p.Arg262Cys|960/1020|784/801|262/266||,A|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.784C>T|p.Arg262Cys|931/991|784/801|262/266||,A|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.784C>T|p.Arg262Cys|942/1002|784/801|262/266||,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*253G>A|||||253|,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*253G>A|||||253| 22 50962065 . G A . . ANN=A|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.776C>T|p.Ala259Val|983/1051|776/801|259/266||,A|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.776C>T|p.Ala259Val|952/1020|776/801|259/266||,A|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.776C>T|p.Ala259Val|923/991|776/801|259/266||,A|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.776C>T|p.Ala259Val|934/1002|776/801|259/266||,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*261G>A|||||261|,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*261G>A|||||261| 22 50962078 . G T . . ANN=T|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.763C>A|p.Arg255Arg|970/1051|763/801|255/266||,T|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.763C>A|p.Arg255Arg|939/1020|763/801|255/266||,T|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.763C>A|p.Arg255Arg|910/991|763/801|255/266||,T|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.763C>A|p.Arg255Arg|921/1002|763/801|255/266||,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*274G>T|||||274|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*274G>T|||||274| 22 50962117 . C T . . ANN=T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.724G>A|p.Gly242Ser|931/1051|724/801|242/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.724G>A|p.Gly242Ser|900/1020|724/801|242/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.724G>A|p.Gly242Ser|871/991|724/801|242/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.724G>A|p.Gly242Ser|882/1002|724/801|242/266||,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*313C>T|||||313|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*313C>T|||||313| 22 50962208 . T G . . ANN=G|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.633A>C|p.Ala211Ala|840/1051|633/801|211/266||,G|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.633A>C|p.Ala211Ala|809/1020|633/801|211/266||,G|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.633A>C|p.Ala211Ala|780/991|633/801|211/266||,G|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.633A>C|p.Ala211Ala|791/1002|633/801|211/266||,G|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*404T>G|||||404|,G|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*404T>G|||||404| 22 50962259 . G A . . ANN=A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.582C>T|p.Ser194Ser|789/1051|582/801|194/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.582C>T|p.Ser194Ser|758/1020|582/801|194/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.582C>T|p.Ser194Ser|729/991|582/801|194/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.582C>T|p.Ser194Ser|740/1002|582/801|194/266||,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*455G>A|||||455|,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*455G>A|||||455| 22 50962265 . G A . . ANN=A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.576C>T|p.Thr192Thr|783/1051|576/801|192/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.576C>T|p.Thr192Thr|752/1020|576/801|192/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.576C>T|p.Thr192Thr|723/991|576/801|192/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.576C>T|p.Thr192Thr|734/1002|576/801|192/266||,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*461G>A|||||461|,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*461G>A|||||461| 22 50962381 . C T . . ANN=T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.460G>A|p.Glu154Lys|667/1051|460/801|154/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.460G>A|p.Glu154Lys|636/1020|460/801|154/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.460G>A|p.Glu154Lys|607/991|460/801|154/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.460G>A|p.Glu154Lys|618/1002|460/801|154/266||,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*577C>T|||||577|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*577C>T|||||577| 22 50962424 . G A . . ANN=A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.417C>T|p.Asp139Asp|624/1051|417/801|139/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.417C>T|p.Asp139Asp|593/1020|417/801|139/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.417C>T|p.Asp139Asp|564/991|417/801|139/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.417C>T|p.Asp139Asp|575/1002|417/801|139/266||,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*620G>A|||||620|,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*620G>A|||||620| 22 50962438 . CAG C . . ANN=C|frameshift_variant|HIGH|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.401_402delCT|p.Pro134fs|609/1051|401/801|134/266||,C|frameshift_variant|HIGH|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.401_402delCT|p.Pro134fs|578/1020|401/801|134/266||,C|frameshift_variant|HIGH|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.401_402delCT|p.Pro134fs|549/991|401/801|134/266||,C|frameshift_variant|HIGH|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.401_402delCT|p.Pro134fs|560/1002|401/801|134/266||,C|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*635_*636delAG|||||635|,C|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*635_*636delAG|||||635|;LOF=(SCO2|SCO2|4|1.00) 22 50962463 . C T . . ANN=T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.378G>A|p.Met126Ile|585/1051|378/801|126/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.378G>A|p.Met126Ile|554/1020|378/801|126/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.378G>A|p.Met126Ile|525/991|378/801|126/266||,T|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.378G>A|p.Met126Ile|536/1002|378/801|126/266||,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*659C>T|||||659|,T|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*659C>T|||||659| 22 50962514 . G A . . ANN=A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.327C>T|p.His109His|534/1051|327/801|109/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.327C>T|p.His109His|503/1020|327/801|109/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.327C>T|p.His109His|474/991|327/801|109/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.327C>T|p.His109His|485/1002|327/801|109/266||,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*710G>A|||||710|,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*710G>A|||||710| 22 50962560 . A G . . ANN=G|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.281T>C|p.Leu94Pro|488/1051|281/801|94/266||,G|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.281T>C|p.Leu94Pro|457/1020|281/801|94/266||,G|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.281T>C|p.Leu94Pro|428/991|281/801|94/266||,G|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.281T>C|p.Leu94Pro|439/1002|281/801|94/266||,G|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*756A>G|||||756|,G|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*756A>G|||||756| 22 50962640 . G A . . ANN=A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.201C>T|p.Phe67Phe|408/1051|201/801|67/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.201C>T|p.Phe67Phe|377/1020|201/801|67/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.201C>T|p.Phe67Phe|348/991|201/801|67/266||,A|synonymous_variant|LOW|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.201C>T|p.Phe67Phe|359/1002|201/801|67/266||,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*836G>A|||||836|,A|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*836G>A|||||836| 22 50962782 . C G . . ANN=G|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169109.1|Coding|2/2|c.59G>C|p.Arg20Pro|266/1051|59/801|20/266||,G|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169111.1|Coding|2/2|c.59G>C|p.Arg20Pro|235/1020|59/801|20/266||,G|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_005138.2|Coding|2/2|c.59G>C|p.Arg20Pro|206/991|59/801|20/266||,G|missense_variant|MODERATE|SCO2|SCO2|transcript|NM_001169110.1|Coding|2/2|c.59G>C|p.Arg20Pro|217/1002|59/801|20/266||,G|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_001185011.1|Coding|20/20|c.*978C>G|||||978|,G|3_prime_UTR_variant|MODIFIER|NCAPH2|NCAPH2|transcript|NM_152299.3|Coding|20/20|c.*978C>G|||||978| 22 50964153 . T C . . ANN=C|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+522A>G||||||,C|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169110.1|Coding|1/1|c.-14+277A>G|||||| 22 50964236 . G A . . ANN=A|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257989.1|Coding|10/10|c.1427C>T|p.Ser476Leu|1619/1674|1427/1464|476/487||,A|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113755.2|Coding|10/10|c.1412C>T|p.Ser471Leu|1616/1671|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113756.2|Coding|9/9|c.1412C>T|p.Ser471Leu|1788/1843|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257988.1|Coding|10/10|c.1412C>T|p.Ser471Leu|1639/1694|1412/1449|471/482||,A|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001953.4|Coding|10/10|c.1412C>T|p.Ser471Leu|1604/1659|1412/1449|471/482||,A|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+439C>T||||||,A|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169110.1|Coding|1/1|c.-14+194C>T|||||| 22 50964255 . C T . . ANN=T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257989.1|Coding|10/10|c.1408G>A|p.Ala470Thr|1600/1674|1408/1464|470/487||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113755.2|Coding|10/10|c.1393G>A|p.Ala465Thr|1597/1671|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113756.2|Coding|9/9|c.1393G>A|p.Ala465Thr|1769/1843|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257988.1|Coding|10/10|c.1393G>A|p.Ala465Thr|1620/1694|1393/1449|465/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001953.4|Coding|10/10|c.1393G>A|p.Ala465Thr|1585/1659|1393/1449|465/482||,T|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+420G>A||||||,T|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169110.1|Coding|1/1|c.-14+175G>A|||||| 22 50964402 . G A . . ANN=A|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+273C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|9/9|c.1315+28C>T||||||,A|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169110.1|Coding|1/1|c.-14+28C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|9/9|c.1300+28C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|8/8|c.1300+28C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|9/9|c.1300+28C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|9/9|c.1300+28C>T|||||| 22 50964446 . A T . . ANN=T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257989.1|Coding|9/10|c.1299T>A|p.Gly433Gly|1491/1674|1299/1464|433/487||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113755.2|Coding|9/10|c.1284T>A|p.Gly428Gly|1488/1671|1284/1449|428/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113756.2|Coding|8/9|c.1284T>A|p.Gly428Gly|1660/1843|1284/1449|428/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257988.1|Coding|9/10|c.1284T>A|p.Gly428Gly|1511/1694|1284/1449|428/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001953.4|Coding|9/10|c.1284T>A|p.Gly428Gly|1476/1659|1284/1449|428/482||,T|5_prime_UTR_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169110.1|Coding|1/2|c.-30T>A|||||1606|,T|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+229T>A|||||| 22 50964599 . G C . . ANN=C|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+76C>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|8/9|c.1160-14C>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|8/9|c.1160-29C>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|7/8|c.1160-29C>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|8/9|c.1160-29C>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|8/9|c.1160-29C>G|||||| 22 50964618 . C T . . ANN=T|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+57G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|8/9|c.1160-33G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|8/9|c.1160-48G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|7/8|c.1160-48G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|8/9|c.1160-48G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|8/9|c.1160-48G>A|||||| 22 50964637 . G T . . ANN=T|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+38C>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|8/9|c.1159+38C>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|8/9|c.1159+38C>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|7/8|c.1159+38C>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|8/9|c.1159+38C>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|8/9|c.1159+38C>A|||||| 22 50964653 . C A . . ANN=A|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+22G>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|8/9|c.1159+22G>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|8/9|c.1159+22G>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|7/8|c.1159+22G>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|8/9|c.1159+22G>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|8/9|c.1159+22G>T|||||| 22 50964663 . C T . . ANN=T|intron_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/1|c.-14+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|8/9|c.1159+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|8/9|c.1159+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|7/8|c.1159+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|8/9|c.1159+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|8/9|c.1159+12G>A|||||| 22 50964862 . G A . . ANN=A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257989.1|Coding|8/10|c.972C>T|p.Ala324Ala|1164/1674|972/1464|324/487||,A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113755.2|Coding|8/10|c.972C>T|p.Ala324Ala|1176/1671|972/1449|324/482||,A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113756.2|Coding|7/9|c.972C>T|p.Ala324Ala|1348/1843|972/1449|324/482||,A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257988.1|Coding|8/10|c.972C>T|p.Ala324Ala|1199/1694|972/1449|324/482||,A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001953.4|Coding|8/10|c.972C>T|p.Ala324Ala|1164/1659|972/1449|324/482||,A|5_prime_UTR_variant|MODIFIER|SCO2|SCO2|transcript|NM_001169109.1|Coding|1/2|c.-201C>T|||||2022| 22 50964907 . TGCGG T . . ANN=T|splice_region_variant&intron_variant|LOW|TYMP|TYMP|transcript|NM_001257989.1|Coding|7/9|c.929-6_929-3delCCGC||||||,T|splice_region_variant&intron_variant|LOW|TYMP|TYMP|transcript|NM_001113755.2|Coding|7/9|c.929-6_929-3delCCGC||||||,T|splice_region_variant&intron_variant|LOW|TYMP|TYMP|transcript|NM_001113756.2|Coding|6/8|c.929-6_929-3delCCGC||||||,T|splice_region_variant&intron_variant|LOW|TYMP|TYMP|transcript|NM_001257988.1|Coding|7/9|c.929-6_929-3delCCGC||||||,T|splice_region_variant&intron_variant|LOW|TYMP|TYMP|transcript|NM_001953.4|Coding|7/9|c.929-6_929-3delCCGC|||||| 22 50965102 . C T . . ANN=T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257989.1|Coding|7/10|c.831G>A|p.Leu277Leu|1023/1674|831/1464|277/487||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113755.2|Coding|7/10|c.831G>A|p.Leu277Leu|1035/1671|831/1449|277/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113756.2|Coding|6/9|c.831G>A|p.Leu277Leu|1207/1843|831/1449|277/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257988.1|Coding|7/10|c.831G>A|p.Leu277Leu|1058/1694|831/1449|277/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001953.4|Coding|7/10|c.831G>A|p.Leu277Leu|1023/1659|831/1449|277/482|| 22 50965559 . A T . . ANN=T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|6/9|c.765+35T>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|6/9|c.765+35T>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|5/8|c.765+35T>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|6/9|c.765+35T>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|6/9|c.765+35T>A|||||| 22 50965624 . C T . . ANN=T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257989.1|Coding|6/10|c.735G>A|p.Gln245Gln|927/1674|735/1464|245/487||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113755.2|Coding|6/10|c.735G>A|p.Gln245Gln|939/1671|735/1449|245/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113756.2|Coding|5/9|c.735G>A|p.Gln245Gln|1111/1843|735/1449|245/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257988.1|Coding|6/10|c.735G>A|p.Gln245Gln|962/1694|735/1449|245/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001953.4|Coding|6/10|c.735G>A|p.Gln245Gln|927/1659|735/1449|245/482|| 22 50965724 . G A . . ANN=A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|5/9|c.647-12C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|5/9|c.647-12C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|4/8|c.647-12C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|5/9|c.647-12C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|5/9|c.647-12C>T|||||| 22 50966051 . C T . . ANN=T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257989.1|Coding|5/10|c.612G>A|p.Val204Val|804/1674|612/1464|204/487||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113755.2|Coding|5/10|c.612G>A|p.Val204Val|816/1671|612/1449|204/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113756.2|Coding|4/9|c.612G>A|p.Val204Val|988/1843|612/1449|204/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257988.1|Coding|5/10|c.612G>A|p.Val204Val|839/1694|612/1449|204/482||,T|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001953.4|Coding|5/10|c.612G>A|p.Val204Val|804/1659|612/1449|204/482|| 22 50966144 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|TYMP|TYMP|transcript|NM_001257989.1|Coding|5/10|c.519G>A|p.Met173Ile|711/1674|519/1464|173/487||,T|missense_variant&splice_region_variant|MODERATE|TYMP|TYMP|transcript|NM_001113755.2|Coding|5/10|c.519G>A|p.Met173Ile|723/1671|519/1449|173/482||,T|missense_variant&splice_region_variant|MODERATE|TYMP|TYMP|transcript|NM_001113756.2|Coding|4/9|c.519G>A|p.Met173Ile|895/1843|519/1449|173/482||,T|missense_variant&splice_region_variant|MODERATE|TYMP|TYMP|transcript|NM_001257988.1|Coding|5/10|c.519G>A|p.Met173Ile|746/1694|519/1449|173/482||,T|missense_variant&splice_region_variant|MODERATE|TYMP|TYMP|transcript|NM_001953.4|Coding|5/10|c.519G>A|p.Met173Ile|711/1659|519/1449|173/482|| 22 50966173 . G A . . ANN=A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|4/9|c.517-27C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|4/9|c.517-27C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|3/8|c.517-27C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|4/9|c.517-27C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|4/9|c.517-27C>T|||||| 22 50966184 . A G . . ANN=G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|4/9|c.517-38T>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|4/9|c.517-38T>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|3/8|c.517-38T>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|4/9|c.517-38T>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|4/9|c.517-38T>C|||||| 22 50966908 . C G . . ANN=G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|4/9|c.516+33G>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|4/9|c.516+33G>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|3/8|c.516+33G>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|4/9|c.516+33G>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|4/9|c.516+33G>C|||||| 22 50966914 . T C . . ANN=C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|4/9|c.516+27A>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|4/9|c.516+27A>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|3/8|c.516+27A>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|4/9|c.516+27A>G||||||,C|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|4/9|c.516+27A>G|||||| 22 50966932 . G A . . ANN=A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|4/9|c.516+9C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|4/9|c.516+9C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|3/8|c.516+9C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|4/9|c.516+9C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|4/9|c.516+9C>T|||||| 22 50967020 . C T . . ANN=T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257989.1|Coding|4/10|c.437G>A|p.Arg146His|629/1674|437/1464|146/487||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113755.2|Coding|4/10|c.437G>A|p.Arg146His|641/1671|437/1449|146/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113756.2|Coding|3/9|c.437G>A|p.Arg146His|813/1843|437/1449|146/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257988.1|Coding|4/10|c.437G>A|p.Arg146His|664/1694|437/1449|146/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001953.4|Coding|4/10|c.437G>A|p.Arg146His|629/1659|437/1449|146/482|| 22 50967024 . C T . . ANN=T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257989.1|Coding|4/10|c.433G>A|p.Gly145Arg|625/1674|433/1464|145/487||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113755.2|Coding|4/10|c.433G>A|p.Gly145Arg|637/1671|433/1449|145/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113756.2|Coding|3/9|c.433G>A|p.Gly145Arg|809/1843|433/1449|145/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257988.1|Coding|4/10|c.433G>A|p.Gly145Arg|660/1694|433/1449|145/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001953.4|Coding|4/10|c.433G>A|p.Gly145Arg|625/1659|433/1449|145/482|| 22 50967538 . C G . . ANN=G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|3/9|c.417+27G>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|3/9|c.417+27G>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|2/8|c.417+27G>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|3/9|c.417+27G>C||||||,G|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|3/9|c.417+27G>C|||||| 22 50967540 . G A . . ANN=A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|3/9|c.417+25C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|3/9|c.417+25C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|2/8|c.417+25C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|3/9|c.417+25C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|3/9|c.417+25C>T|||||| 22 50967666 . C G . . ANN=G|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257989.1|Coding|3/10|c.316G>C|p.Glu106Gln|508/1674|316/1464|106/487||,G|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113755.2|Coding|3/10|c.316G>C|p.Glu106Gln|520/1671|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113756.2|Coding|2/9|c.316G>C|p.Glu106Gln|692/1843|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257988.1|Coding|3/10|c.316G>C|p.Glu106Gln|543/1694|316/1449|106/482||,G|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001953.4|Coding|3/10|c.316G>C|p.Glu106Gln|508/1659|316/1449|106/482|| 22 50967740 . C T . . ANN=T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257989.1|Coding|3/10|c.242G>A|p.Arg81Gln|434/1674|242/1464|81/487||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113755.2|Coding|3/10|c.242G>A|p.Arg81Gln|446/1671|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001113756.2|Coding|2/9|c.242G>A|p.Arg81Gln|618/1843|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001257988.1|Coding|3/10|c.242G>A|p.Arg81Gln|469/1694|242/1449|81/482||,T|missense_variant|MODERATE|TYMP|TYMP|transcript|NM_001953.4|Coding|3/10|c.242G>A|p.Arg81Gln|434/1659|242/1449|81/482|| 22 50967801 . C T . . ANN=T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|2/9|c.215-34G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|2/9|c.215-34G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|1/8|c.215-34G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|2/9|c.215-34G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|2/9|c.215-34G>A|||||| 22 50967905 . G A . . ANN=A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|2/9|c.214+20C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|2/9|c.214+20C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|1/8|c.214+20C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|2/9|c.214+20C>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|2/9|c.214+20C>T|||||| 22 50967912 . C T . . ANN=T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|2/9|c.214+13G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|2/9|c.214+13G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|1/8|c.214+13G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|2/9|c.214+13G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|2/9|c.214+13G>A|||||| 22 50967913 . C T . . ANN=T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|2/9|c.214+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|2/9|c.214+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|1/8|c.214+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257988.1|Coding|2/9|c.214+12G>A||||||,T|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|2/9|c.214+12G>A|||||| 22 50967935 . G A . . ANN=A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257989.1|Coding|2/10|c.204C>T|p.Gly68Gly|396/1674|204/1464|68/487||,A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113755.2|Coding|2/10|c.204C>T|p.Gly68Gly|408/1671|204/1449|68/482||,A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001113756.2|Coding|1/9|c.204C>T|p.Gly68Gly|580/1843|204/1449|68/482||,A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001257988.1|Coding|2/10|c.204C>T|p.Gly68Gly|431/1694|204/1449|68/482||,A|synonymous_variant|LOW|TYMP|TYMP|transcript|NM_001953.4|Coding|2/10|c.204C>T|p.Gly68Gly|396/1659|204/1449|68/482|| 22 50968184 . C A . . ANN=A|splice_acceptor_variant&intron_variant|HIGH|TYMP|TYMP|transcript|NM_001257988.1|Coding|1/9|c.-45-1G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|TYMP|TYMP|transcript|NM_001113756.2|Coding|1/9|c.-46G>T||||||,A|5_prime_UTR_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113756.2|Coding|1/9|c.-46G>T|||||46|,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001257989.1|Coding|1/9|c.-10-36G>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001113755.2|Coding|1/9|c.-22-24G>T||||||,A|intron_variant|MODIFIER|TYMP|TYMP|transcript|NM_001953.4|Coding|1/9|c.-10-36G>T||||||;LOF=(TYMP|TYMP|5|0.20) 22 50969312 . C T . . ANN=T|intron_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|5/6|c.541-31G>A|||||| 22 50969352 . G T . . ANN=T|intron_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|5/6|c.540+14C>A|||||| 22 50969450 . C T . . ANN=T|synonymous_variant|LOW|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|5/7|c.456G>A|p.Pro152Pro|593/970|456/762|152/253|| 22 50969647 . C G . . ANN=G|missense_variant|MODERATE|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|4/7|c.391G>C|p.Gly131Arg|528/970|391/762|131/253|| 22 50969752 . G C . . ANN=C|intron_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|3/6|c.314-28C>G|||||| 22 50969765 . G A . . ANN=A|intron_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|3/6|c.314-41C>T|||||| 22 50970068 . C T . . ANN=T|missense_variant|MODERATE|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|3/7|c.244G>A|p.Asp82Asn|381/970|244/762|82/253|| 22 50970219 . T C . . ANN=C|intron_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|2/6|c.110-17A>G|||||| 22 50970231 . G C . . ANN=C|intron_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|2/6|c.110-29C>G|||||| 22 50970354 . C A . . ANN=A|intron_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|2/6|c.109+44G>T|||||| 22 50970516 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|2/7|c.-10C>T|||||10| 22 50970517 . G C . . ANN=C|5_prime_UTR_variant|MODIFIER|ODF3B|ODF3B|transcript|NM_001014440.3|Coding|2/7|c.-11C>G|||||11| 22 50987175 . G T . . ANN=T|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.580G>T|p.Val194Leu|714/2991|580/1785|194/594|| 22 50987273 . G T . . ANN=T|synonymous_variant|LOW|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.678G>T|p.Val226Val|812/2991|678/1785|226/594|| 22 50987287 . A G . . ANN=G|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.692A>G|p.Gln231Arg|826/2991|692/1785|231/594|| 22 50987353 . T C . . ANN=C|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.758T>C|p.Val253Ala|892/2991|758/1785|253/594|| 22 50987601 . A T . . ANN=T|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1006A>T|p.Thr336Ser|1140/2991|1006/1785|336/594|| 22 50987609 . GC G . . ANN=|frameshift_variant|HIGH|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1017delC|p.Pro339fs|1151/2991|1017/1785|339/594||INFO_REALIGN_3_PRIME;LOF=(KLHDC7B|KLHDC7B|1|1.00) 22 50987690 . C T . . ANN=T|synonymous_variant|LOW|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1095C>T|p.Ser365Ser|1229/2991|1095/1785|365/594|| 22 50987843 . C T . . ANN=T|synonymous_variant|LOW|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1248C>T|p.Tyr416Tyr|1382/2991|1248/1785|416/594|| 22 50987859 . G A . . ANN=A|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1264G>A|p.Asp422Asn|1398/2991|1264/1785|422/594|| 22 50987990 . G A . . ANN=A|synonymous_variant|LOW|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1395G>A|p.Arg465Arg|1529/2991|1395/1785|465/594|| 22 50988038 . C T . . ANN=T|synonymous_variant|LOW|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1443C>T|p.Ser481Ser|1577/2991|1443/1785|481/594|| 22 50988062 . G T . . ANN=T|synonymous_variant|LOW|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1467G>T|p.Val489Val|1601/2991|1467/1785|489/594|| 22 50988105 . G A . . ANN=A|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1510G>A|p.Val504Met|1644/2991|1510/1785|504/594|| 22 50988141 . G A . . ANN=A|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1546G>A|p.Gly516Ser|1680/2991|1546/1785|516/594|| 22 50988183 . G A . . ANN=A|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1588G>A|p.Ala530Thr|1722/2991|1588/1785|530/594|| 22 50988192 . C A . . ANN=A|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1597C>A|p.His533Asn|1731/2991|1597/1785|533/594|| 22 50988193 . A G . . ANN=G|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1598A>G|p.His533Arg|1732/2991|1598/1785|533/594|| 22 50988317 . C T . . ANN=T|synonymous_variant|LOW|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1722C>T|p.Thr574Thr|1856/2991|1722/1785|574/594|| 22 50988352 . C A . . ANN=A|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1757C>A|p.Pro586His|1891/2991|1757/1785|586/594|| 22 50988376 . T C . . ANN=C|missense_variant|MODERATE|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.1781T>C|p.Leu594Pro|1915/2991|1781/1785|594/594|| 22 50988413 . C G . . ANN=G|3_prime_UTR_variant|MODIFIER|KLHDC7B|KLHDC7B|transcript|NM_138433.3|Coding|1/1|c.*33C>G|||||33| 22 51007725 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|19/19|c.*42G>A|||||42|,T|3_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|19/19|c.*42G>A|||||42|,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|19/19|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|18/18|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|19/19|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|18/18|c.*2+40G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|19/19|c.*2+40G>A||||||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|29/30|n.3926G>A|||||| 22 51007847 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|19/20|c.2239G>A|p.Ala747Thr|2377/2680|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|18/19|c.2239G>A|p.Ala747Thr|2401/2704|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|19/19|c.2239G>A|p.Ala747Thr|2338/2895|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|19/20|c.2239G>A|p.Ala747Thr|2338/2641|2239/2319|747/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|18/19|c.2137G>A|p.Ala713Thr|2275/2578|2137/2217|713/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|19/20|c.1996G>A|p.Ala666Thr|2134/2437|1996/2076|666/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|19/19|c.2239G>A|p.Ala747Thr|2377/2934|2239/2319|747/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|29/30|n.3804G>A|||||| 22 51007848 . G A . . ANN=A|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|19/20|c.2238C>T|p.Asn746Asn|2376/2680|2238/2319|746/772||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|29/30|n.3803C>T||||||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|18/19|c.2238C>T|p.Asn746Asn|2400/2704|2238/2319|746/772||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|19/19|c.2238C>T|p.Asn746Asn|2337/2895|2238/2319|746/772||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|19/20|c.2238C>T|p.Asn746Asn|2337/2641|2238/2319|746/772||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|18/19|c.2136C>T|p.Asn712Asn|2274/2578|2136/2217|712/738||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|19/20|c.1995C>T|p.Asn665Asn|2133/2437|1995/2076|665/691||,A|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|19/19|c.2238C>T|p.Asn746Asn|2376/2934|2238/2319|746/772|| 22 51007987 . C A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|18/19|c.2235+18G>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|28/29|n.3800+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|17/18|c.2235+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|18/18|c.2235+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|18/19|c.2235+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|17/18|c.2133+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|18/19|c.1992+18G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|18/18|c.2235+18G>T|||||| 22 51007989 . G T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|18/19|c.2235+16C>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|28/29|n.3800+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|17/18|c.2235+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|18/18|c.2235+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|18/19|c.2235+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|17/18|c.2133+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|18/19|c.1992+16C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|18/18|c.2235+16C>A|||||| 22 51008045 . A G . . ANN=G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|18/20|c.2195T>C|p.Ile732Thr|2333/2680|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|17/19|c.2195T>C|p.Ile732Thr|2357/2704|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|18/19|c.2195T>C|p.Ile732Thr|2294/2895|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|18/20|c.2195T>C|p.Ile732Thr|2294/2641|2195/2319|732/772||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|17/19|c.2093T>C|p.Ile698Thr|2231/2578|2093/2217|698/738||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|18/20|c.1952T>C|p.Ile651Thr|2090/2437|1952/2076|651/691||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|18/19|c.2195T>C|p.Ile732Thr|2333/2934|2195/2319|732/772||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|28/30|n.3760T>C|||||| 22 51008048 . G A . . ANN=A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|18/20|c.2192C>T|p.Thr731Met|2330/2680|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|17/19|c.2192C>T|p.Thr731Met|2354/2704|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|18/19|c.2192C>T|p.Thr731Met|2291/2895|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|18/20|c.2192C>T|p.Thr731Met|2291/2641|2192/2319|731/772||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|17/19|c.2090C>T|p.Thr697Met|2228/2578|2090/2217|697/738||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|18/20|c.1949C>T|p.Thr650Met|2087/2437|1949/2076|650/691||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|18/19|c.2192C>T|p.Thr731Met|2330/2934|2192/2319|731/772||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|28/30|n.3757C>T|||||| 22 51008055 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|18/20|c.2185G>A|p.Glu729Lys|2323/2680|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|17/19|c.2185G>A|p.Glu729Lys|2347/2704|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|18/19|c.2185G>A|p.Glu729Lys|2284/2895|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|18/20|c.2185G>A|p.Glu729Lys|2284/2641|2185/2319|729/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|17/19|c.2083G>A|p.Glu695Lys|2221/2578|2083/2217|695/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|18/20|c.1942G>A|p.Glu648Lys|2080/2437|1942/2076|648/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|18/19|c.2185G>A|p.Glu729Lys|2323/2934|2185/2319|729/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|28/30|n.3750G>A|||||| 22 51008121 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|17/19|c.2143-24C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|27/29|n.3708-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|16/18|c.2143-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|17/18|c.2143-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|17/19|c.2143-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|16/18|c.2041-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|17/19|c.1900-24C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|17/18|c.2143-24C>T|||||| 22 51008135 . A G . . ANN=G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|17/19|c.2143-38T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|27/29|n.3708-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|16/18|c.2143-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|17/18|c.2143-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|17/19|c.2143-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|16/18|c.2041-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|17/19|c.1900-38T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|17/18|c.2143-38T>C|||||| 22 51008141 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|17/19|c.2143-44C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|27/29|n.3708-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|16/18|c.2143-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|17/18|c.2143-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|17/19|c.2143-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|16/18|c.2041-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|17/19|c.1900-44C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|17/18|c.2143-44C>T|||||| 22 51008731 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|17/20|c.2133C>T|p.Gly711Gly|2271/2680|2133/2319|711/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|16/19|c.2133C>T|p.Gly711Gly|2295/2704|2133/2319|711/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|17/19|c.2133C>T|p.Gly711Gly|2232/2895|2133/2319|711/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|17/20|c.2133C>T|p.Gly711Gly|2232/2641|2133/2319|711/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|16/19|c.2031C>T|p.Gly677Gly|2169/2578|2031/2217|677/738||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|17/20|c.1890C>T|p.Gly630Gly|2028/2437|1890/2076|630/691||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|17/19|c.2133C>T|p.Gly711Gly|2271/2934|2133/2319|711/772||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|27/30|n.3698C>T|||||| 22 51008816 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|17/20|c.2048G>A|p.Arg683His|2186/2680|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|16/19|c.2048G>A|p.Arg683His|2210/2704|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|17/19|c.2048G>A|p.Arg683His|2147/2895|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|17/20|c.2048G>A|p.Arg683His|2147/2641|2048/2319|683/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|16/19|c.1946G>A|p.Arg649His|2084/2578|1946/2217|649/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|17/20|c.1805G>A|p.Arg602His|1943/2437|1805/2076|602/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|17/19|c.2048G>A|p.Arg683His|2186/2934|2048/2319|683/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|27/30|n.3613G>A|||||| 22 51008850 . A G . . ANN=G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|16/19|c.2029-15T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|26/29|n.3594-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|15/18|c.2029-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|16/18|c.2029-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|16/19|c.2029-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|15/18|c.1927-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|16/19|c.1786-15T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|16/18|c.2029-15T>C|||||| 22 51009310 . C T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|16/19|c.2028+10G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|26/29|n.3593+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|15/18|c.2028+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|16/18|c.2028+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|16/19|c.2028+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|15/18|c.1926+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|16/19|c.1785+10G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|16/18|c.2028+10G>A|||||| 22 51009371 . G C . . ANN=C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|16/20|c.1977C>G|p.Cys659Trp|2115/2680|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|15/19|c.1977C>G|p.Cys659Trp|2139/2704|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|16/19|c.1977C>G|p.Cys659Trp|2076/2895|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|16/20|c.1977C>G|p.Cys659Trp|2076/2641|1977/2319|659/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|15/19|c.1875C>G|p.Cys625Trp|2013/2578|1875/2217|625/738||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|16/20|c.1734C>G|p.Cys578Trp|1872/2437|1734/2076|578/691||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|16/19|c.1977C>G|p.Cys659Trp|2115/2934|1977/2319|659/772||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|26/30|n.3542C>G|||||| 22 51009468 . G T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|16/20|c.1880C>A|p.Ala627Glu|2018/2680|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|15/19|c.1880C>A|p.Ala627Glu|2042/2704|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|16/19|c.1880C>A|p.Ala627Glu|1979/2895|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|16/20|c.1880C>A|p.Ala627Glu|1979/2641|1880/2319|627/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|15/19|c.1778C>A|p.Ala593Glu|1916/2578|1778/2217|593/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|16/20|c.1637C>A|p.Ala546Glu|1775/2437|1637/2076|546/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|16/19|c.1880C>A|p.Ala627Glu|2018/2934|1880/2319|627/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|26/30|n.3445C>A|||||| 22 51009486 . G T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|15/19|c.1876-14C>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|25/29|n.3441-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|14/18|c.1876-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|15/18|c.1876-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|15/19|c.1876-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|14/18|c.1774-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|15/19|c.1633-14C>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|15/18|c.1876-14C>A|||||| 22 51009487 . T C . . ANN=C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|15/19|c.1876-15A>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|25/29|n.3441-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|14/18|c.1876-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|15/18|c.1876-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|15/19|c.1876-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|14/18|c.1774-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|15/19|c.1633-15A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|15/18|c.1876-15A>G|||||| 22 51009560 . A AC . . ANN=AC|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|15/19|c.1875+26_1875+27insG||||||,AC|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|25/29|n.3440+26_3440+27insG||||||,AC|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|14/18|c.1875+26_1875+27insG||||||,AC|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|15/18|c.1875+26_1875+27insG||||||,AC|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|15/19|c.1875+26_1875+27insG||||||,AC|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|14/18|c.1773+26_1773+27insG||||||,AC|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|15/19|c.1632+26_1632+27insG||||||,AC|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|15/18|c.1875+26_1875+27insG|||||| 22 51009624 . G A . . ANN=A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|15/20|c.1838C>T|p.Thr613Ile|1976/2680|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|14/19|c.1838C>T|p.Thr613Ile|2000/2704|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|15/19|c.1838C>T|p.Thr613Ile|1937/2895|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|15/20|c.1838C>T|p.Thr613Ile|1937/2641|1838/2319|613/772||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|14/19|c.1736C>T|p.Thr579Ile|1874/2578|1736/2217|579/738||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|15/20|c.1595C>T|p.Thr532Ile|1733/2437|1595/2076|532/691||,A|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|15/19|c.1838C>T|p.Thr613Ile|1976/2934|1838/2319|613/772||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|25/30|n.3403C>T|||||| 22 51009736 . G C . . ANN=C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|14/19|c.1741-15C>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|24/29|n.3311-20C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|13/18|c.1741-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|14/18|c.1741-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|14/19|c.1741-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|13/18|c.1639-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|14/19|c.1498-15C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|14/18|c.1741-15C>G|||||| 22 51009806 . G A . . ANN=A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|14/20|c.1738C>T|p.Arg580Trp|1876/2680|1738/2319|580/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|13/19|c.1738C>T|p.Arg580Trp|1900/2704|1738/2319|580/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|14/19|c.1738C>T|p.Arg580Trp|1837/2895|1738/2319|580/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|14/20|c.1738C>T|p.Arg580Trp|1837/2641|1738/2319|580/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|13/19|c.1636C>T|p.Arg546Trp|1774/2578|1636/2217|546/738||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|14/20|c.1495C>T|p.Arg499Trp|1633/2437|1495/2076|499/691||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|14/19|c.1738C>T|p.Arg580Trp|1876/2934|1738/2319|580/772||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|24/30|n.3308C>T|||||| 22 51009856 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|14/20|c.1688G>A|p.Arg563Gln|1826/2680|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|13/19|c.1688G>A|p.Arg563Gln|1850/2704|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|14/19|c.1688G>A|p.Arg563Gln|1787/2895|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|14/20|c.1688G>A|p.Arg563Gln|1787/2641|1688/2319|563/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|13/19|c.1586G>A|p.Arg529Gln|1724/2578|1586/2217|529/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|14/20|c.1445G>A|p.Arg482Gln|1583/2437|1445/2076|482/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|14/19|c.1688G>A|p.Arg563Gln|1826/2934|1688/2319|563/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|24/30|n.3258G>A|||||| 22 51009918 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|14/20|c.1626C>T|p.Asp542Asp|1764/2680|1626/2319|542/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|13/19|c.1626C>T|p.Asp542Asp|1788/2704|1626/2319|542/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|14/19|c.1626C>T|p.Asp542Asp|1725/2895|1626/2319|542/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|14/20|c.1626C>T|p.Asp542Asp|1725/2641|1626/2319|542/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|13/19|c.1524C>T|p.Asp508Asp|1662/2578|1524/2217|508/738||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|14/20|c.1383C>T|p.Asp461Asp|1521/2437|1383/2076|461/691||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|14/19|c.1626C>T|p.Asp542Asp|1764/2934|1626/2319|542/772||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|24/30|n.3196C>T|||||| 22 51009938 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|14/20|c.1606G>A|p.Val536Met|1744/2680|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|13/19|c.1606G>A|p.Val536Met|1768/2704|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|14/19|c.1606G>A|p.Val536Met|1705/2895|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|14/20|c.1606G>A|p.Val536Met|1705/2641|1606/2319|536/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|13/19|c.1504G>A|p.Val502Met|1642/2578|1504/2217|502/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|14/20|c.1363G>A|p.Val455Met|1501/2437|1363/2076|455/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|14/19|c.1606G>A|p.Val536Met|1744/2934|1606/2319|536/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|24/30|n.3176G>A|||||| 22 51009953 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|14/20|c.1591G>A|p.Glu531Lys|1729/2680|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|13/19|c.1591G>A|p.Glu531Lys|1753/2704|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|14/19|c.1591G>A|p.Glu531Lys|1690/2895|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|14/20|c.1591G>A|p.Glu531Lys|1690/2641|1591/2319|531/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|13/19|c.1489G>A|p.Glu497Lys|1627/2578|1489/2217|497/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|14/20|c.1348G>A|p.Glu450Lys|1486/2437|1348/2076|450/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|14/19|c.1591G>A|p.Glu531Lys|1729/2934|1591/2319|531/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|24/30|n.3161G>A|||||| 22 51010416 . C T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|13/19|c.1575+19G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|23/29|n.3145+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|12/18|c.1575+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|13/18|c.1575+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|13/19|c.1575+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|12/18|c.1473+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|13/19|c.1332+19G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|13/18|c.1575+19G>A|||||| 22 51010540 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|13/20|c.1470C>T|p.Gly490Gly|1608/2680|1470/2319|490/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|12/19|c.1470C>T|p.Gly490Gly|1632/2704|1470/2319|490/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|13/19|c.1470C>T|p.Gly490Gly|1569/2895|1470/2319|490/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|13/20|c.1470C>T|p.Gly490Gly|1569/2641|1470/2319|490/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|12/19|c.1368C>T|p.Gly456Gly|1506/2578|1368/2217|456/738||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|13/20|c.1227C>T|p.Gly409Gly|1365/2437|1227/2076|409/691||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|13/19|c.1470C>T|p.Gly490Gly|1608/2934|1470/2319|490/772||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|23/30|n.3040C>T|||||| 22 51010558 . G C . . ANN=C|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|12/19|c.1459-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|22/29|n.3029-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|11/18|c.1459-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|12/18|c.1459-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|12/19|c.1459-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|11/18|c.1357-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|12/19|c.1216-7C>G||||||,C|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|12/18|c.1459-7C>G|||||| 22 51010603 . C A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|12/19|c.1458+29G>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|22/29|n.3028+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|11/18|c.1458+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|12/18|c.1458+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|12/19|c.1458+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|11/18|c.1356+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|12/19|c.1215+29G>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|12/18|c.1458+29G>T|||||| 22 51010609 . G C . . ANN=C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|12/19|c.1458+23C>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|22/29|n.3028+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|11/18|c.1458+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|12/18|c.1458+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|12/19|c.1458+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|11/18|c.1356+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|12/19|c.1215+23C>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|12/18|c.1458+23C>G|||||| 22 51010668 . C T . . ANN=T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|12/20|c.1422G>A|p.Ala474Ala|1560/2680|1422/2319|474/772||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|11/19|c.1422G>A|p.Ala474Ala|1584/2704|1422/2319|474/772||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|12/19|c.1422G>A|p.Ala474Ala|1521/2895|1422/2319|474/772||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|12/20|c.1422G>A|p.Ala474Ala|1521/2641|1422/2319|474/772||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|11/19|c.1320G>A|p.Ala440Ala|1458/2578|1320/2217|440/738||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|12/20|c.1179G>A|p.Ala393Ala|1317/2437|1179/2076|393/691||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|12/19|c.1422G>A|p.Ala474Ala|1560/2934|1422/2319|474/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|22/30|n.2992G>A|||||| 22 51010737 . C T . . ANN=T|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|12/20|c.1353G>A|p.Arg451Arg|1491/2680|1353/2319|451/772||,T|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|22/30|n.2923G>A||||||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|11/19|c.1353G>A|p.Arg451Arg|1515/2704|1353/2319|451/772||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|12/19|c.1353G>A|p.Arg451Arg|1452/2895|1353/2319|451/772||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|12/20|c.1353G>A|p.Arg451Arg|1452/2641|1353/2319|451/772||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|11/19|c.1251G>A|p.Arg417Arg|1389/2578|1251/2217|417/738||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|12/20|c.1110G>A|p.Arg370Arg|1248/2437|1110/2076|370/691||,T|splice_region_variant&synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|12/19|c.1353G>A|p.Arg451Arg|1491/2934|1353/2319|451/772|| 22 51010743 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|11/19|c.1353-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|21/29|n.2923-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|10/18|c.1353-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|11/18|c.1353-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|11/19|c.1353-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|10/18|c.1251-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|11/19|c.1110-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|11/18|c.1353-6C>T|||||| 22 51011300 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|11/19|c.1352+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|21/29|n.2922+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|10/18|c.1352+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|11/18|c.1352+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|11/19|c.1352+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|10/18|c.1250+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|11/19|c.1109+4C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|11/18|c.1352+4C>T|||||| 22 51011348 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|11/20|c.1308C>T|p.Leu436Leu|1446/2680|1308/2319|436/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|10/19|c.1308C>T|p.Leu436Leu|1470/2704|1308/2319|436/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|11/19|c.1308C>T|p.Leu436Leu|1407/2895|1308/2319|436/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|11/20|c.1308C>T|p.Leu436Leu|1407/2641|1308/2319|436/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|10/19|c.1206C>T|p.Leu402Leu|1344/2578|1206/2217|402/738||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|11/20|c.1065C>T|p.Leu355Leu|1203/2437|1065/2076|355/691||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|11/19|c.1308C>T|p.Leu436Leu|1446/2934|1308/2319|436/772||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|21/30|n.2878C>T|||||| 22 51011376 . G C . . ANN=C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|11/20|c.1280C>G|p.Ser427Cys|1418/2680|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|10/19|c.1280C>G|p.Ser427Cys|1442/2704|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|11/19|c.1280C>G|p.Ser427Cys|1379/2895|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|11/20|c.1280C>G|p.Ser427Cys|1379/2641|1280/2319|427/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|10/19|c.1178C>G|p.Ser393Cys|1316/2578|1178/2217|393/738||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|11/19|c.1280C>G|p.Ser427Cys|1418/2934|1280/2319|427/772||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|10/19|c.1062-25C>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|21/30|n.2850C>G|||||| 22 51011453 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|11/20|c.1203C>T|p.Ser401Ser|1341/2680|1203/2319|401/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|10/19|c.1203C>T|p.Ser401Ser|1365/2704|1203/2319|401/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|11/19|c.1203C>T|p.Ser401Ser|1302/2895|1203/2319|401/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|11/20|c.1203C>T|p.Ser401Ser|1302/2641|1203/2319|401/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|10/19|c.1101C>T|p.Ser367Ser|1239/2578|1101/2217|367/738||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|11/19|c.1203C>T|p.Ser401Ser|1341/2934|1203/2319|401/772||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|10/19|c.1062-102C>T||||||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|21/30|n.2773C>T|||||| 22 51011522 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|10/19|c.1167-33C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|20/29|n.2737-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|9/18|c.1167-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|10/18|c.1167-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|10/19|c.1167-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|9/18|c.1065-33C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|10/19|c.1062-171C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|10/18|c.1167-33C>T|||||| 22 51011926 . A G . . ANN=G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|10/19|c.1166+23T>C||||||,G|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|20/29|n.2736+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|9/18|c.1166+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|10/18|c.1166+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|10/19|c.1166+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|9/18|c.1064+23T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|10/19|c.1061+128T>C||||||,G|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|10/18|c.1166+23T>C|||||| 22 51011936 . T C . . ANN=C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|10/19|c.1166+13A>G||||||,C|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|20/29|n.2736+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|9/18|c.1166+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|10/18|c.1166+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|10/19|c.1166+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|9/18|c.1064+13A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|10/19|c.1061+118A>G||||||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|10/18|c.1166+13A>G|||||| 22 51012057 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|10/20|c.1058G>A|p.Arg353His|1196/2680|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|9/19|c.1058G>A|p.Arg353His|1220/2704|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|10/19|c.1058G>A|p.Arg353His|1157/2895|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|10/20|c.1058G>A|p.Arg353His|1157/2641|1058/2319|353/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|9/19|c.956G>A|p.Arg319His|1094/2578|956/2217|319/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|10/20|c.1058G>A|p.Arg353His|1196/2437|1058/2076|353/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|10/19|c.1058G>A|p.Arg353His|1196/2934|1058/2319|353/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|20/30|n.2628G>A|||||| 22 51012117 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|10/20|c.998G>A|p.Arg333Gln|1136/2680|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|9/19|c.998G>A|p.Arg333Gln|1160/2704|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|10/19|c.998G>A|p.Arg333Gln|1097/2895|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|10/20|c.998G>A|p.Arg333Gln|1097/2641|998/2319|333/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|9/19|c.896G>A|p.Arg299Gln|1034/2578|896/2217|299/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|10/20|c.998G>A|p.Arg333Gln|1136/2437|998/2076|333/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|10/19|c.998G>A|p.Arg333Gln|1136/2934|998/2319|333/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|20/30|n.2568G>A|||||| 22 51012175 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|9/19|c.971-31C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|19/29|n.2541-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|8/18|c.971-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|9/18|c.971-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|9/19|c.971-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|8/18|c.869-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|9/19|c.971-31C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|9/18|c.971-31C>T|||||| 22 51012775 . C T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|9/20|c.959G>A|p.Gly320Asp|1097/2680|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|8/19|c.959G>A|p.Gly320Asp|1121/2704|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|9/19|c.959G>A|p.Gly320Asp|1058/2895|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|9/20|c.959G>A|p.Gly320Asp|1058/2641|959/2319|320/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|8/19|c.857G>A|p.Gly286Asp|995/2578|857/2217|286/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|9/20|c.959G>A|p.Gly320Asp|1097/2437|959/2076|320/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|9/19|c.959G>A|p.Gly320Asp|1097/2934|959/2319|320/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|19/30|n.2529G>A|||||| 22 51012777 . C T . . ANN=T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|9/20|c.957G>A|p.Pro319Pro|1095/2680|957/2319|319/772||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|8/19|c.957G>A|p.Pro319Pro|1119/2704|957/2319|319/772||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|9/19|c.957G>A|p.Pro319Pro|1056/2895|957/2319|319/772||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|9/20|c.957G>A|p.Pro319Pro|1056/2641|957/2319|319/772||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|8/19|c.855G>A|p.Pro285Pro|993/2578|855/2217|285/738||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|9/20|c.957G>A|p.Pro319Pro|1095/2437|957/2076|319/691||,T|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|9/19|c.957G>A|p.Pro319Pro|1095/2934|957/2319|319/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|19/30|n.2527G>A|||||| 22 51012854 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|8/19|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|18/29|n.2456-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|7/18|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|8/18|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|8/19|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|7/18|c.784-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|8/19|c.886-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|8/18|c.886-6C>T|||||| 22 51012979 . G T . . ANN=T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|8/20|c.828C>A|p.Asn276Lys|966/2680|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|7/19|c.828C>A|p.Asn276Lys|990/2704|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|8/19|c.828C>A|p.Asn276Lys|927/2895|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|8/20|c.828C>A|p.Asn276Lys|927/2641|828/2319|276/772||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|7/19|c.726C>A|p.Asn242Lys|864/2578|726/2217|242/738||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|8/20|c.828C>A|p.Asn276Lys|966/2437|828/2076|276/691||,T|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|8/19|c.828C>A|p.Asn276Lys|966/2934|828/2319|276/772||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|18/30|n.2398C>A|||||| 22 51013003 . G A . . ANN=A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|8/20|c.804C>T|p.Asp268Asp|942/2680|804/2319|268/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|7/19|c.804C>T|p.Asp268Asp|966/2704|804/2319|268/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|8/19|c.804C>T|p.Asp268Asp|903/2895|804/2319|268/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|8/20|c.804C>T|p.Asp268Asp|903/2641|804/2319|268/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|7/19|c.702C>T|p.Asp234Asp|840/2578|702/2217|234/738||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|8/20|c.804C>T|p.Asp268Asp|942/2437|804/2076|268/691||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|8/19|c.804C>T|p.Asp268Asp|942/2934|804/2319|268/772||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|18/30|n.2374C>T|||||| 22 51013072 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|7/19|c.778-43C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|17/29|n.2348-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|6/18|c.778-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|7/18|c.778-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|7/19|c.778-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|6/18|c.676-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|7/19|c.778-43C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|7/18|c.778-43C>T|||||| 22 51014691 . T C . . ANN=C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|6/20|c.635A>G|p.Gln212Arg|773/2680|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|5/19|c.635A>G|p.Gln212Arg|797/2704|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|6/19|c.635A>G|p.Gln212Arg|734/2895|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|6/20|c.635A>G|p.Gln212Arg|734/2641|635/2319|212/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|5/19|c.533A>G|p.Gln178Arg|671/2578|533/2217|178/738||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|6/20|c.635A>G|p.Gln212Arg|773/2437|635/2076|212/691||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|6/19|c.635A>G|p.Gln212Arg|773/2934|635/2319|212/772||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|16/30|n.2205A>G|||||| 22 51014787 . C T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|5/19|c.562-23G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|15/29|n.2132-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|4/18|c.562-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|5/18|c.562-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|5/19|c.562-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|4/18|c.460-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|5/19|c.562-23G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|5/18|c.562-23G>A|||||| 22 51014925 . A T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|5/19|c.561+40T>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|15/29|n.2131+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|4/18|c.561+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|5/18|c.561+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|5/19|c.561+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|4/18|c.460-161T>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|5/19|c.561+40T>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|5/18|c.561+40T>A|||||| 22 51014966 . C A,T . . ANN=A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|5/20|c.560G>T|p.Arg187Leu|698/2680|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|5/20|c.560G>A|p.Arg187Gln|698/2680|560/2319|187/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|4/19|c.560G>T|p.Arg187Leu|722/2704|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|4/19|c.560G>A|p.Arg187Gln|722/2704|560/2319|187/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|5/19|c.560G>T|p.Arg187Leu|659/2895|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|5/19|c.560G>A|p.Arg187Gln|659/2895|560/2319|187/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|5/20|c.560G>T|p.Arg187Leu|659/2641|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|5/20|c.560G>A|p.Arg187Gln|659/2641|560/2319|187/772||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|5/20|c.560G>T|p.Arg187Leu|698/2437|560/2076|187/691||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|5/20|c.560G>A|p.Arg187Gln|698/2437|560/2076|187/691||,A|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|5/19|c.560G>T|p.Arg187Leu|698/2934|560/2319|187/772||,T|missense_variant&splice_region_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|5/19|c.560G>A|p.Arg187Gln|698/2934|560/2319|187/772||,A|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|15/30|n.2130G>T||||||,T|splice_region_variant&non_coding_exon_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|15/30|n.2130G>A||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|4/18|c.460-202G>T||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|4/18|c.460-202G>A|||||| 22 51015003 . T C . . ANN=C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|5/20|c.523A>G|p.Lys175Glu|661/2680|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|4/19|c.523A>G|p.Lys175Glu|685/2704|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|5/19|c.523A>G|p.Lys175Glu|622/2895|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|5/20|c.523A>G|p.Lys175Glu|622/2641|523/2319|175/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|5/20|c.523A>G|p.Lys175Glu|661/2437|523/2076|175/691||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|5/19|c.523A>G|p.Lys175Glu|661/2934|523/2319|175/772||,C|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|4/18|c.460-239A>G||||||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|15/30|n.2093A>G|||||| 22 51015069 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|4/19|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|14/29|n.2030-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|3/18|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|4/18|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|4/19|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|4/19|c.460-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|4/18|c.460-3C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|4/18|c.459+217C>T|||||| 22 51015403 . C A . . ANN=A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|4/20|c.342G>T|p.Thr114Thr|480/2680|342/2319|114/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|3/19|c.342G>T|p.Thr114Thr|504/2704|342/2319|114/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|4/19|c.342G>T|p.Thr114Thr|441/2895|342/2319|114/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|4/20|c.342G>T|p.Thr114Thr|441/2641|342/2319|114/772||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|4/19|c.342G>T|p.Thr114Thr|480/2578|342/2217|114/738||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|4/20|c.342G>T|p.Thr114Thr|480/2437|342/2076|114/691||,A|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|4/19|c.342G>T|p.Thr114Thr|480/2934|342/2319|114/772||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|14/30|n.1912G>T|||||| 22 51015481 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|3/19|c.282-18C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|13/29|n.1852-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|2/18|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|3/18|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|3/19|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|3/18|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|3/19|c.282-18C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|3/18|c.282-18C>T|||||| 22 51015490 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|3/19|c.282-27C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|13/29|n.1852-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|2/18|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|3/18|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|3/19|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|3/18|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|3/19|c.282-27C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|3/18|c.282-27C>T|||||| 22 51015706 . C T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|3/19|c.281+47G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|13/29|n.1851+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|2/18|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|3/18|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|3/19|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|3/18|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|3/19|c.281+47G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|3/18|c.281+47G>A|||||| 22 51015793 . A G . . ANN=G|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|3/20|c.241T>C|p.Leu81Leu|379/2680|241/2319|81/772||,G|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|2/19|c.241T>C|p.Leu81Leu|403/2704|241/2319|81/772||,G|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|3/19|c.241T>C|p.Leu81Leu|340/2895|241/2319|81/772||,G|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|3/20|c.241T>C|p.Leu81Leu|340/2641|241/2319|81/772||,G|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|3/19|c.241T>C|p.Leu81Leu|379/2578|241/2217|81/738||,G|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|3/20|c.241T>C|p.Leu81Leu|379/2437|241/2076|81/691||,G|synonymous_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|3/19|c.241T>C|p.Leu81Leu|379/2934|241/2319|81/772||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|13/30|n.1811T>C|||||| 22 51015801 . T G . . ANN=G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|3/20|c.233A>C|p.Asp78Ala|371/2680|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|2/19|c.233A>C|p.Asp78Ala|395/2704|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|3/19|c.233A>C|p.Asp78Ala|332/2895|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|3/20|c.233A>C|p.Asp78Ala|332/2641|233/2319|78/772||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|3/19|c.233A>C|p.Asp78Ala|371/2578|233/2217|78/738||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|3/20|c.233A>C|p.Asp78Ala|371/2437|233/2076|78/691||,G|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|3/19|c.233A>C|p.Asp78Ala|371/2934|233/2319|78/772||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|13/30|n.1803A>C|||||| 22 51015838 . T C . . ANN=C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|3/20|c.196A>G|p.Ile66Val|334/2680|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|2/19|c.196A>G|p.Ile66Val|358/2704|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_004377.3|Coding|3/19|c.196A>G|p.Ile66Val|295/2895|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152246.2|Coding|3/20|c.196A>G|p.Ile66Val|295/2641|196/2319|66/772||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|3/19|c.196A>G|p.Ile66Val|334/2578|196/2217|66/738||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|3/20|c.196A>G|p.Ile66Val|334/2437|196/2076|66/691||,C|missense_variant|MODERATE|CPT1B|CPT1B|transcript|NM_152245.2|Coding|3/19|c.196A>G|p.Ile66Val|334/2934|196/2319|66/772||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|13/30|n.1766A>G|||||| 22 51015931 . C T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|2/19|c.142-39G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|12/29|n.1712-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|1/18|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|2/18|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|2/19|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|2/18|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|2/19|c.142-39G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|2/18|c.142-39G>A|||||| 22 51016158 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|2/19|c.141+46C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|12/29|n.1711+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|1/18|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|2/18|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|2/19|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|2/18|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|2/19|c.141+46C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|2/18|c.141+46C>T|||||| 22 51016165 . G A . . ANN=A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|2/19|c.141+39C>T||||||,A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|12/29|n.1711+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|1/18|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|2/18|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|2/19|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|2/18|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|2/19|c.141+39C>T||||||,A|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|2/18|c.141+39C>T|||||| 22 51016170 . C T . . ANN=T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|2/19|c.141+34G>A||||||,T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|12/29|n.1711+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|1/18|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|2/18|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|2/19|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|2/18|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|2/19|c.141+34G>A||||||,T|intron_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|2/18|c.141+34G>A|||||| 22 51016360 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|2/20|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|1/19|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_004377.3|Coding|2/19|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152246.2|Coding|2/20|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|2/19|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|2/20|c.-16C>T|||||16|,A|5_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_152245.2|Coding|2/19|c.-16C>T|||||16|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|12/30|n.1555C>T|||||| 22 51016370 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145135.1|Coding|1/19|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|11/29|n.1552-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_004377.3|Coding|1/18|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152246.2|Coding|1/19|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145134.1|Coding|1/18|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_001145136.1|Coding|1/19|c.-19-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CPT1B|CPT1B|transcript|NM_152245.2|Coding|1/18|c.-19-7G>C||||||,G|5_prime_UTR_variant|MODIFIER|CPT1B|CPT1B|transcript|NM_001145137.1|Coding|1/19|c.-26G>C|||||26| 22 51017690 . G A . . ANN=A|splice_region_variant&intron_variant|LOW|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|10/29|n.1332-6C>T||||||,A|splice_region_variant&intron_variant|LOW|CHKB|CHKB|transcript|NM_005198.4|Coding|10/10|c.1114-6C>T|||||| 22 51017713 . G A . . ANN=A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|10/29|n.1332-29C>T||||||,A|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|10/10|c.1114-29C>T|||||| 22 51018129 . T TA . . ANN=TA|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|9/29|n.1249+26_1249+27insT||||||,TA|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|9/10|c.1031+26_1031+27insT|||||| 22 51018204 . T C . . ANN=C|missense_variant|MODERATE|CHKB|CHKB|transcript|NM_005198.4|Coding|9/11|c.983A>G|p.Gln328Arg|1201/1629|983/1188|328/395||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|9/30|n.1201A>G|||||| 22 51018297 . T C . . ANN=C|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|8/29|n.1146-38A>G||||||,C|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|8/10|c.928-38A>G|||||| 22 51018574 . G A . . ANN=A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|7/29|n.1036+45C>T||||||,A|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|7/10|c.818+45C>T|||||| 22 51018579 . A G . . ANN=G|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|7/29|n.1036+40T>C||||||,G|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|7/10|c.818+40T>C|||||| 22 51018623 . A G . . ANN=G|missense_variant|MODERATE|CHKB|CHKB|transcript|NM_005198.4|Coding|7/11|c.814T>C|p.Tyr272His|1032/1629|814/1188|272/395||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|7/30|n.1032T>C|||||| 22 51018814 . C T . . ANN=T|missense_variant|MODERATE|CHKB|CHKB|transcript|NM_005198.4|Coding|6/11|c.709G>A|p.Val237Ile|927/1629|709/1188|237/395||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|6/30|n.927G>A|||||| 22 51018955 . G A . . ANN=A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|5/29|n.895+39C>T||||||,A|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|5/10|c.677+39C>T|||||| 22 51019105 . T C . . ANN=C|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/29|n.800-16A>G||||||,C|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|4/10|c.582-16A>G|||||| 22 51019113 . A C . . ANN=C|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/29|n.800-24T>G||||||,C|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|4/10|c.582-24T>G|||||| 22 51019138 . C T . . ANN=T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/29|n.800-49G>A||||||,T|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|4/10|c.582-49G>A|||||| 22 51019802 . A T . . ANN=T|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/29|n.799+47T>A||||||,T|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|4/10|c.581+47T>A|||||| 22 51019857 . G T . . ANN=T|synonymous_variant|LOW|CHKB|CHKB|transcript|NM_005198.4|Coding|4/11|c.573C>A|p.Thr191Thr|791/1629|573/1188|191/395||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/30|n.791C>A|||||| 22 51019914 . C T . . ANN=T|synonymous_variant|LOW|CHKB|CHKB|transcript|NM_005198.4|Coding|4/11|c.516G>A|p.Ala172Ala|734/1629|516/1188|172/395||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/30|n.734G>A|||||| 22 51019929 . A C . . ANN=C|missense_variant|MODERATE|CHKB|CHKB|transcript|NM_005198.4|Coding|4/11|c.501T>G|p.Ile167Met|719/1629|501/1188|167/395||,C|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/30|n.719T>G|||||| 22 51019973 . A G . . ANN=G|synonymous_variant|LOW|CHKB|CHKB|transcript|NM_005198.4|Coding|4/11|c.457T>C|p.Leu153Leu|675/1629|457/1188|153/395||,G|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/30|n.675T>C|||||| 22 51019978 . C T . . ANN=T|missense_variant|MODERATE|CHKB|CHKB|transcript|NM_005198.4|Coding|4/11|c.452G>A|p.Arg151Gln|670/1629|452/1188|151/395||,T|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|4/30|n.670G>A|||||| 22 51020279 . G A . . ANN=A|synonymous_variant|LOW|CHKB|CHKB|transcript|NM_005198.4|Coding|3/11|c.346C>T|p.Leu116Leu|564/1629|346/1188|116/395||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|3/30|n.564C>T|||||| 22 51020668 . C A . . ANN=A|intron_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|2/29|n.551+10G>T||||||,A|intron_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|2/10|c.333+10G>T|||||| 22 51020762 . G A . . ANN=A|synonymous_variant|LOW|CHKB|CHKB|transcript|NM_005198.4|Coding|2/11|c.249C>T|p.Phe83Phe|467/1629|249/1188|83/395||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|2/30|n.467C>T|||||| 22 51020995 . G A . . ANN=A|synonymous_variant|LOW|CHKB|CHKB|transcript|NM_005198.4|Coding|1/11|c.216C>T|p.Tyr72Tyr|434/1629|216/1188|72/395||,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|1/30|n.434C>T|||||| 22 51021258 . C A . . ANN=A|5_prime_UTR_variant|MODIFIER|CHKB|CHKB|transcript|NM_005198.4|Coding|1/11|c.-48G>T|||||48|,A|non_coding_exon_variant|MODIFIER|CHKB-CPT1B|CHKB-CPT1B|transcript|NR_027928.2|Noncoding|1/30|n.171G>T|||||| 22 51063571 . C T . . ANN=T|3_prime_UTR_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|8/8|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|9/9|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|9/9|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|9/9|c.*2G>A|||||2|,T|3_prime_UTR_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|8/8|c.*2G>A|||||2| 22 51063610 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|8/8|c.1493G>A|p.Arg498His|1887/4315|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|9/9|c.1493G>A|p.Arg498His|1782/4210|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|9/9|c.1493G>A|p.Arg498His|1734/4162|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|9/9|c.1493G>A|p.Arg498His|1689/4117|1493/1530|498/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|8/8|c.1235G>A|p.Arg412His|1497/3925|1235/1272|412/423|| 22 51063616 . G A . . ANN=A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|8/8|c.1487C>T|p.Thr496Ile|1881/4315|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|9/9|c.1487C>T|p.Thr496Ile|1776/4210|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|9/9|c.1487C>T|p.Thr496Ile|1728/4162|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|9/9|c.1487C>T|p.Thr496Ile|1683/4117|1487/1530|496/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|8/8|c.1229C>T|p.Thr410Ile|1491/3925|1229/1272|410/423|| 22 51063656 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|8/8|c.1447G>A|p.Glu483Lys|1841/4315|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|9/9|c.1447G>A|p.Glu483Lys|1736/4210|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|9/9|c.1447G>A|p.Glu483Lys|1688/4162|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|9/9|c.1447G>A|p.Glu483Lys|1643/4117|1447/1530|483/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|8/8|c.1189G>A|p.Glu397Lys|1451/3925|1189/1272|397/423|| 22 51063758 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|8/8|c.1345G>A|p.Gly449Arg|1739/4315|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|9/9|c.1345G>A|p.Gly449Arg|1634/4210|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|9/9|c.1345G>A|p.Gly449Arg|1586/4162|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|9/9|c.1345G>A|p.Gly449Arg|1541/4117|1345/1530|449/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|8/8|c.1087G>A|p.Gly363Arg|1349/3925|1087/1272|363/423|| 22 51063778 . T C . . ANN=C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|8/8|c.1325A>G|p.Asn442Ser|1719/4315|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|9/9|c.1325A>G|p.Asn442Ser|1614/4210|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|9/9|c.1325A>G|p.Asn442Ser|1566/4162|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|9/9|c.1325A>G|p.Asn442Ser|1521/4117|1325/1530|442/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|8/8|c.1067A>G|p.Asn356Ser|1329/3925|1067/1272|356/423|| 22 51063806 . G C . . ANN=C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|8/8|c.1297C>G|p.Leu433Val|1691/4315|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|9/9|c.1297C>G|p.Leu433Val|1586/4210|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|9/9|c.1297C>G|p.Leu433Val|1538/4162|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|9/9|c.1297C>G|p.Leu433Val|1493/4117|1297/1530|433/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|8/8|c.1039C>G|p.Leu347Val|1301/3925|1039/1272|347/423|| 22 51063852 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|8/8|c.1251C>T|p.His417His|1645/4315|1251/1530|417/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|9/9|c.1251C>T|p.His417His|1540/4210|1251/1530|417/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|9/9|c.1251C>T|p.His417His|1492/4162|1251/1530|417/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|9/9|c.1251C>T|p.His417His|1447/4117|1251/1530|417/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|8/8|c.993C>T|p.His331His|1255/3925|993/1272|331/423|| 22 51063959 . G A . . ANN=A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|7/7|c.1210+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|8/8|c.1210+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|8/8|c.1210+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|8/8|c.1210+48C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|7/7|c.952+48C>T|||||| 22 51063987 . G C . . ANN=C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|7/7|c.1210+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|8/8|c.1210+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|8/8|c.1210+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|8/8|c.1210+20C>G||||||,C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|7/7|c.952+20C>G|||||| 22 51063994 . G T . . ANN=T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|7/7|c.1210+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|8/8|c.1210+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|8/8|c.1210+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|8/8|c.1210+13C>A||||||,T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|7/7|c.952+13C>A|||||| 22 51064039 . G C . . ANN=C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|7/8|c.1178C>G|p.Thr393Ser|1572/4315|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|8/9|c.1178C>G|p.Thr393Ser|1467/4210|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|8/9|c.1178C>G|p.Thr393Ser|1419/4162|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|8/9|c.1178C>G|p.Thr393Ser|1374/4117|1178/1530|393/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|7/8|c.920C>G|p.Thr307Ser|1182/3925|920/1272|307/423|| 22 51064068 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|7/8|c.1149C>T|p.Asp383Asp|1543/4315|1149/1530|383/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|8/9|c.1149C>T|p.Asp383Asp|1438/4210|1149/1530|383/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|8/9|c.1149C>T|p.Asp383Asp|1390/4162|1149/1530|383/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|8/9|c.1149C>T|p.Asp383Asp|1345/4117|1149/1530|383/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|7/8|c.891C>T|p.Asp297Asp|1153/3925|891/1272|297/423|| 22 51064138 . G A . . ANN=A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|6/7|c.1108-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|7/8|c.1108-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|7/8|c.1108-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|7/8|c.1108-29C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|6/7|c.850-29C>T|||||| 22 51064141 . G A . . ANN=A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|6/7|c.1108-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|7/8|c.1108-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|7/8|c.1108-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|7/8|c.1108-32C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|6/7|c.850-32C>T|||||| 22 51064365 . T G . . ANN=G|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|6/8|c.1106A>C|p.Lys369Thr|1500/4315|1106/1530|369/509||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|7/9|c.1106A>C|p.Lys369Thr|1395/4210|1106/1530|369/509||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|7/9|c.1106A>C|p.Lys369Thr|1347/4162|1106/1530|369/509||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|7/9|c.1106A>C|p.Lys369Thr|1302/4117|1106/1530|369/509||,G|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|6/8|c.848A>C|p.Lys283Thr|1110/3925|848/1272|283/423|| 22 51064416 . T C . . ANN=C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|6/8|c.1055A>G|p.Asn352Ser|1449/4315|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|7/9|c.1055A>G|p.Asn352Ser|1344/4210|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|7/9|c.1055A>G|p.Asn352Ser|1296/4162|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|7/9|c.1055A>G|p.Asn352Ser|1251/4117|1055/1530|352/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|6/8|c.797A>G|p.Asn266Ser|1059/3925|797/1272|266/423|| 22 51064469 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|6/8|c.1002C>T|p.Ser334Ser|1396/4315|1002/1530|334/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|7/9|c.1002C>T|p.Ser334Ser|1291/4210|1002/1530|334/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|7/9|c.1002C>T|p.Ser334Ser|1243/4162|1002/1530|334/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|7/9|c.1002C>T|p.Ser334Ser|1198/4117|1002/1530|334/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|6/8|c.744C>T|p.Ser248Ser|1006/3925|744/1272|248/423|| 22 51064489 . C T . . ANN=T|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|6/8|c.982G>A|p.Val328Met|1376/4315|982/1530|328/509||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|7/9|c.982G>A|p.Val328Met|1271/4210|982/1530|328/509||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|7/9|c.982G>A|p.Val328Met|1223/4162|982/1530|328/509||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|7/9|c.982G>A|p.Val328Met|1178/4117|982/1530|328/509||,T|missense_variant&splice_region_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|6/8|c.724G>A|p.Val242Met|986/3925|724/1272|242/423|| 22 51064524 . C T . . ANN=T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|5/7|c.980-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|6/8|c.980-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|6/8|c.980-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|6/8|c.980-33G>A||||||,T|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|5/7|c.722-33G>A|||||| 22 51064544 . T C . . ANN=C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|5/7|c.979+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|6/8|c.979+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|6/8|c.979+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|6/8|c.979+38A>G||||||,C|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|5/7|c.721+38A>G|||||| 22 51064589 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|5/8|c.972C>T|p.Ile324Ile|1366/4315|972/1530|324/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|6/9|c.972C>T|p.Ile324Ile|1261/4210|972/1530|324/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|6/9|c.972C>T|p.Ile324Ile|1213/4162|972/1530|324/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|6/9|c.972C>T|p.Ile324Ile|1168/4117|972/1530|324/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|5/8|c.714C>T|p.Ile238Ile|976/3925|714/1272|238/423|| 22 51064659 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|5/8|c.902G>A|p.Arg301Gln|1296/4315|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|6/9|c.902G>A|p.Arg301Gln|1191/4210|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|6/9|c.902G>A|p.Arg301Gln|1143/4162|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|6/9|c.902G>A|p.Arg301Gln|1098/4117|902/1530|301/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|5/8|c.644G>A|p.Arg215Gln|906/3925|644/1272|215/423|| 22 51064668 . C A . . ANN=A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|5/8|c.893G>T|p.Gly298Val|1287/4315|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|6/9|c.893G>T|p.Gly298Val|1182/4210|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|6/9|c.893G>T|p.Gly298Val|1134/4162|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|6/9|c.893G>T|p.Gly298Val|1089/4117|893/1530|298/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|5/8|c.635G>T|p.Gly212Val|897/3925|635/1272|212/423|| 22 51065229 . G A . . ANN=A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|3/7|c.684+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/8|c.684+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/8|c.684+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/8|c.684+33C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/7|c.426+33C>T|||||| 22 51065266 . G C . . ANN=C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|3/8|c.680C>G|p.Ser227Cys|1074/4315|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/9|c.680C>G|p.Ser227Cys|969/4210|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/9|c.680C>G|p.Ser227Cys|921/4162|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/9|c.680C>G|p.Ser227Cys|876/4117|680/1530|227/509||,C|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/8|c.422C>G|p.Ser141Cys|684/3925|422/1272|141/423|| 22 51065287 . G A . . ANN=A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|3/8|c.659C>T|p.Pro220Leu|1053/4315|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/9|c.659C>T|p.Pro220Leu|948/4210|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/9|c.659C>T|p.Pro220Leu|900/4162|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/9|c.659C>T|p.Pro220Leu|855/4117|659/1530|220/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/8|c.401C>T|p.Pro134Leu|663/3925|401/1272|134/423|| 22 51065310 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|3/8|c.636C>T|p.Ala212Ala|1030/4315|636/1530|212/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/9|c.636C>T|p.Ala212Ala|925/4210|636/1530|212/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/9|c.636C>T|p.Ala212Ala|877/4162|636/1530|212/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/9|c.636C>T|p.Ala212Ala|832/4117|636/1530|212/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/8|c.378C>T|p.Ala126Ala|640/3925|378/1272|126/423|| 22 51065322 . A G . . ANN=G|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|3/8|c.624T>C|p.His208His|1018/4315|624/1530|208/509||,G|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/9|c.624T>C|p.His208His|913/4210|624/1530|208/509||,G|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/9|c.624T>C|p.His208His|865/4162|624/1530|208/509||,G|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/9|c.624T>C|p.His208His|820/4117|624/1530|208/509||,G|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/8|c.366T>C|p.His122His|628/3925|366/1272|122/423|| 22 51065341 . C T . . ANN=T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|3/8|c.605G>A|p.Arg202His|999/4315|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/9|c.605G>A|p.Arg202His|894/4210|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/9|c.605G>A|p.Arg202His|846/4162|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/9|c.605G>A|p.Arg202His|801/4117|605/1530|202/509||,T|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/8|c.347G>A|p.Arg116His|609/3925|347/1272|116/423|| 22 51065361 . C A . . ANN=A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|3/8|c.585G>T|p.Trp195Cys|979/4315|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/9|c.585G>T|p.Trp195Cys|874/4210|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/9|c.585G>T|p.Trp195Cys|826/4162|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/9|c.585G>T|p.Trp195Cys|781/4117|585/1530|195/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/8|c.327G>T|p.Trp109Cys|589/3925|327/1272|109/423|| 22 51065382 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|3/8|c.564C>T|p.Ser188Ser|958/4315|564/1530|188/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/9|c.564C>T|p.Ser188Ser|853/4210|564/1530|188/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/9|c.564C>T|p.Ser188Ser|805/4162|564/1530|188/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/9|c.564C>T|p.Ser188Ser|760/4117|564/1530|188/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/8|c.306C>T|p.Ser102Ser|568/3925|306/1272|102/423|| 22 51065451 . C T . . ANN=T|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|3/8|c.495G>A|p.Pro165Pro|889/4315|495/1530|165/509||,T|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|4/9|c.495G>A|p.Pro165Pro|784/4210|495/1530|165/509||,T|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|4/9|c.495G>A|p.Pro165Pro|736/4162|495/1530|165/509||,T|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|4/9|c.495G>A|p.Pro165Pro|691/4117|495/1530|165/509||,T|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|3/8|c.237G>A|p.Pro79Pro|499/3925|237/1272|79/423|| 22 51065487 . C G . . ANN=G|splice_region_variant&intron_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|2/7|c.466-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|3/8|c.466-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|3/8|c.466-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|3/8|c.466-7G>C||||||,G|splice_region_variant&intron_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|2/7|c.208-7G>C|||||| 22 51065524 . C A . . ANN=A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|2/7|c.466-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|3/8|c.466-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|3/8|c.466-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|3/8|c.466-44G>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|2/7|c.208-44G>T|||||| 22 51065581 . G A . . ANN=A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_000487.5|Coding|2/7|c.465+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085425.2|Coding|3/8|c.465+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085426.2|Coding|3/8|c.465+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085427.2|Coding|3/8|c.465+13C>T||||||,A|intron_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|2/7|c.207+13C>T|||||| 22 51065600 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|2/8|c.459C>T|p.His153His|853/4315|459/1530|153/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|3/9|c.459C>T|p.His153His|748/4210|459/1530|153/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|3/9|c.459C>T|p.His153His|700/4162|459/1530|153/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|3/9|c.459C>T|p.His153His|655/4117|459/1530|153/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|2/8|c.201C>T|p.His67His|463/3925|201/1272|67/423|| 22 51065610 . G A . . ANN=A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_000487.5|Coding|2/8|c.449C>T|p.Pro150Leu|843/4315|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085425.2|Coding|3/9|c.449C>T|p.Pro150Leu|738/4210|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085426.2|Coding|3/9|c.449C>T|p.Pro150Leu|690/4162|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085427.2|Coding|3/9|c.449C>T|p.Pro150Leu|645/4117|449/1530|150/509||,A|missense_variant|MODERATE|ARSA|ARSA|transcript|NM_001085428.2|Coding|2/8|c.191C>T|p.Pro64Leu|453/3925|191/1272|64/423|| 22 51065642 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|2/8|c.417C>T|p.Pro139Pro|811/4315|417/1530|139/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|3/9|c.417C>T|p.Pro139Pro|706/4210|417/1530|139/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|3/9|c.417C>T|p.Pro139Pro|658/4162|417/1530|139/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|3/9|c.417C>T|p.Pro139Pro|613/4117|417/1530|139/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085428.2|Coding|2/8|c.159C>T|p.Pro53Pro|421/3925|159/1272|53/423|| 22 51065816 . G A . . ANN=A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_000487.5|Coding|2/8|c.243C>T|p.Gly81Gly|637/4315|243/1530|81/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085425.2|Coding|3/9|c.243C>T|p.Gly81Gly|532/4210|243/1530|81/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085426.2|Coding|3/9|c.243C>T|p.Gly81Gly|484/4162|243/1530|81/509||,A|synonymous_variant|LOW|ARSA|ARSA|transcript|NM_001085427.2|Coding|3/9|c.243C>T|p.Gly81Gly|439/4117|243/1530|81/509||,A|5_prime_UTR_variant|MODIFIER|ARSA|ARSA|transcript|NM_001085428.2|Coding|2/8|c.-16C>T|||||16| 22 51117002 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|3/21|c.340-11C>T|||||| 22 51117137 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|4/21|c.448+16G>A|||||| 22 51117159 . C A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|4/21|c.448+38C>A|||||| 22 51117175 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|4/21|c.449-22C>T|||||| 22 51117219 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|5/22|c.471C>T|p.Ala157Ala|471/7054|471/5154|157/1717|| 22 51117231 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|5/22|c.483C>T|p.Asn161Asn|483/7054|483/5154|161/1717|| 22 51117369 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|5/21|c.600+21G>A|||||| 22 51117521 . G T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|6/22|c.675G>T|p.Leu225Leu|675/7054|675/5154|225/1717|| 22 51117564 . C T . . ANN=T|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|6/22|c.718C>T|p.His240Tyr|718/7054|718/5154|240/1717|| 22 51117580 . T C . . ANN=C|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|6/22|c.734T>C|p.Ile245Thr|734/7054|734/5154|245/1717|| 22 51117660 . T G . . ANN=G|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|6/21|c.768+46T>G|||||| 22 51117713 . C G . . ANN=G|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|6/21|c.769-27C>G|||||| 22 51117865 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|7/21|c.885+9G>A|||||| 22 51121760 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|7/21|c.886-8C>T|||||| 22 51121773 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|8/22|c.891C>T|p.Ser297Ser|891/7054|891/5154|297/1717|| 22 51121852 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|8/21|c.963+7C>T|||||| 22 51122989 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|8/21|c.964-24G>A|||||| 22 51123008 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|8/21|c.964-5C>T|||||| 22 51123101 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|9/21|c.1030+22G>A|||||| 22 51123122 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|9/21|c.1030+43G>A|||||| 22 51133246 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|10/22|c.1074G>A|p.Leu358Leu|1074/7054|1074/5154|358/1717|| 22 51133329 . C T . . ANN=T|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|10/22|c.1157C>T|p.Ala386Val|1157/7054|1157/5154|386/1717|| 22 51133417 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|10/22|c.1245C>T|p.Ala415Ala|1245/7054|1245/5154|415/1717|| 22 51133518 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|10/21|c.1304+42G>A|||||| 22 51133524 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|10/21|c.1304+48C>T|||||| 22 51135990 . T G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|SHANK3|SHANK3|transcript|NM_033517.1|Coding|10/21|c.1305-2T>G||||||;LOF=(SHANK3|SHANK3|1|1.00) 22 51135991 . T G . . ANN=G|splice_acceptor_variant&intron_variant|HIGH|SHANK3|SHANK3|transcript|NM_033517.1|Coding|10/21|c.1305-1T>G||||||;LOF=(SHANK3|SHANK3|1|1.00) 22 51137093 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|11/21|c.1457-25C>T|||||| 22 51137094 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|11/21|c.1457-24G>A|||||| 22 51137096 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|11/21|c.1457-22C>T|||||| 22 51137249 . T C . . ANN=C|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|12/21|c.1570+18T>C|||||| 22 51137253 . C G . . ANN=G|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|12/21|c.1570+22C>G|||||| 22 51142255 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|12/21|c.1571-33C>T|||||| 22 51142280 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|12/21|c.1571-8C>T|||||| 22 51142381 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|13/21|c.1646+18G>A|||||| 22 51142642 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|14/22|c.1695C>T|p.His565His|1695/7054|1695/5154|565/1717|| 22 51142692 . T A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|14/21|c.1729+16T>A|||||| 22 51142703 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|14/21|c.1729+27C>T|||||| 22 51143124 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|14/21|c.1730-42C>T|||||| 22 51143197 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|15/22|c.1761G>A|p.Thr587Thr|1761/7054|1761/5154|587/1717|| 22 51143226 . A G . . ANN=G|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|15/22|c.1790A>G|p.Glu597Gly|1790/7054|1790/5154|597/1717|| 22 51143287 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|15/22|c.1851C>T|p.Ile617Ile|1851/7054|1851/5154|617/1717|| 22 51143308 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|15/21|c.1854+18G>A|||||| 22 51143309 . G C . . ANN=C|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|15/21|c.1854+19G>C|||||| 22 51143351 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|15/21|c.1855-41C>T|||||| 22 51143401 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|16/22|c.1864G>A|p.Val622Met|1864/7054|1864/5154|622/1717|| 22 51143462 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|16/22|c.1925G>A|p.Arg642His|1925/7054|1925/5154|642/1717|| 22 51143508 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|16/22|c.1971C>T|p.Asp657Asp|1971/7054|1971/5154|657/1717|| 22 51143520 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|16/22|c.1983C>T|p.Arg661Arg|1983/7054|1983/5154|661/1717|| 22 51144464 . T C . . ANN=C|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|16/21|c.1988-36T>C|||||| 22 51144541 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|17/22|c.2029C>T|p.Leu677Leu|2029/7054|2029/5154|677/1717|| 22 51144589 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|17/21|c.2068+9C>T|||||| 22 51150038 . C T . . ANN=T|splice_region_variant&intron_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|17/21|c.2069-5C>T|||||| 22 51150075 . T C . . ANN=C|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|18/21|c.2092+9T>C|||||| 22 51153355 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|19/22|c.2103C>T|p.Asp701Asp|2103/7054|2103/5154|701/1717|| 22 51153371 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|19/22|c.2119G>A|p.Ala707Thr|2119/7054|2119/5154|707/1717|| 22 51153463 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|19/22|c.2211C>T|p.Pro737Pro|2211/7054|2211/5154|737/1717|| 22 51153501 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|19/21|c.2223+26G>A|||||| 22 51153509 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|19/21|c.2223+34G>A|||||| 22 51154048 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|19/21|c.2224-49G>A|||||| 22 51154141 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|20/22|c.2268G>A|p.Pro756Pro|2268/7054|2268/5154|756/1717|| 22 51159258 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.2955C>T|p.Tyr985Tyr|2955/7054|2955/5154|985/1717|| 22 51159408 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.3105C>T|p.Pro1035Pro|3105/7054|3105/5154|1035/1717|| 22 51159417 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.3114C>T|p.Ser1038Ser|3114/7054|3114/5154|1038/1717|| 22 51159624 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.3321C>T|p.Ser1107Ser|3321/7054|3321/5154|1107/1717|| 22 51159652 . G C . . ANN=C|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.3349G>C|p.Val1117Leu|3349/7054|3349/5154|1117/1717|| 22 51159667 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.3364G>A|p.Ala1122Thr|3364/7054|3364/5154|1122/1717|| 22 51159778 . G A . . ANN=A|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.3475G>A|p.Ala1159Thr|3475/7054|3475/5154|1159/1717|| 22 51159798 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.3495G>A|p.Lys1165Lys|3495/7054|3495/5154|1165/1717|| 22 51159802 . C A . . ANN=A|missense_variant|MODERATE|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.3499C>A|p.Pro1167Thr|3499/7054|3499/5154|1167/1717|| 22 51160536 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.4233G>A|p.Gly1411Gly|4233/7054|4233/5154|1411/1717|| 22 51160539 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.4236G>A|p.Pro1412Pro|4236/7054|4236/5154|1412/1717|| 22 51160707 . G A . . ANN=A|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.4404G>A|p.Gly1468Gly|4404/7054|4404/5154|1468/1717|| 22 51160839 . C T . . ANN=T|synonymous_variant|LOW|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/22|c.4536C>T|p.Ala1512Ala|4536/7054|4536/5154|1512/1717|| 22 51160876 . C T . . ANN=T|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/21|c.4562+11C>T|||||| 22 51160877 . G A . . ANN=A|intron_variant|MODIFIER|SHANK3|SHANK3|transcript|NM_033517.1|Coding|21/21|c.4562+12G>A|||||| 22 51176616 . G A . . ANN=A|intergenic_region|MODIFIER|SHANK3-ACR|SHANK3-ACR|intergenic_region|SHANK3-ACR||||||||| 22 51176660 . G A . . ANN=A|5_prime_UTR_variant|MODIFIER|ACR|ACR|transcript|NM_001097.2|Coding|1/5|c.-4G>A|||||4| 22 51176664 . A G . . ANN=G|start_lost|HIGH|ACR|ACR|transcript|NM_001097.2|Coding|1/5|c.1A>G|p.Met1?|13/1370|1/1266|1/421||;LOF=(ACR|ACR|1|1.00) 22 51176734 . C T . . ANN=T|missense_variant|MODERATE|ACR|ACR|transcript|NM_001097.2|Coding|1/5|c.71C>T|p.Thr24Met|83/1370|71/1266|24/421|| 22 51176739 . G GA . . ANN=A|frameshift_variant|HIGH|ACR|ACR|transcript|NM_001097.2|Coding|1/5|c.66_67insA|p.Ala23fs|79/1370|67/1266|23/421||INFO_REALIGN_3_PRIME;LOF=(ACR|ACR|1|1.00) 22 51176775 . T C . . ANN=C|intron_variant|MODIFIER|ACR|ACR|transcript|NM_001097.2|Coding|1/4|c.77+35T>C|||||| 22 51177751 . G A . . ANN=A|missense_variant|MODERATE|ACR|ACR|transcript|NM_001097.2|Coding|2/5|c.130G>A|p.Val44Ile|142/1370|130/1266|44/421|| 22 51177756 . C T . . ANN=T|synonymous_variant|LOW|ACR|ACR|transcript|NM_001097.2|Coding|2/5|c.135C>T|p.Gly45Gly|147/1370|135/1266|45/421|| 22 51177812 . C T . . ANN=T|missense_variant|MODERATE|ACR|ACR|transcript|NM_001097.2|Coding|2/5|c.191C>T|p.Thr64Met|203/1370|191/1266|64/421|| 22 51177864 . A T . . ANN=T|synonymous_variant|LOW|ACR|ACR|transcript|NM_001097.2|Coding|2/5|c.243A>T|p.Arg81Arg|255/1370|243/1266|81/421|| 22 51177891 . C T . . ANN=T|synonymous_variant|LOW|ACR|ACR|transcript|NM_001097.2|Coding|2/5|c.270C>T|p.Phe90Phe|282/1370|270/1266|90/421|| 22 51177928 . G A . . ANN=A|intron_variant|MODIFIER|ACR|ACR|transcript|NM_001097.2|Coding|2/4|c.281+26G>A|||||| 22 51178077 . C G . . ANN=G|intron_variant|MODIFIER|ACR|ACR|transcript|NM_001097.2|Coding|2/4|c.282-45C>G|||||| 22 51178090 . G A . . ANN=A|intron_variant|MODIFIER|ACR|ACR|transcript|NM_001097.2|Coding|2/4|c.282-32G>A|||||| 22 51178224 . C A . . ANN=A|synonymous_variant|LOW|ACR|ACR|transcript|NM_001097.2|Coding|3/5|c.384C>A|p.Ile128Ile|396/1370|384/1266|128/421|| 22 51178419 . C T . . ANN=T|intron_variant|MODIFIER|ACR|ACR|transcript|NM_001097.2|Coding|3/4|c.565+14C>T|||||| 22 51208005 . GTC G . . ANN=G|intron_variant|MODIFIER|RPL23AP82|RPL23AP82|transcript|NR_026981.1|Noncoding|1/3|n.241+12252_241+12253delTC||||||,G|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130923.1|Coding|7/9|c.410-30_410-29delGA||||||,G|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001003789.1|Coding|6/8|c.410-27_410-26delGA||||||,G|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130919.1|Coding|6/8|c.410-27_410-26delGA||||||,G|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130920.1|Coding|7/9|c.410-27_410-26delGA||||||,G|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130921.1|Coding|7/9|c.410-27_410-26delGA||||||,G|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130922.1|Coding|6/8|c.410-30_410-29delGA||||||,G|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_007081.2|Coding|6/8|c.410-30_410-29delGA|||||| 22 51216332 . G A,T . . ANN=A|intron_variant|MODIFIER|RPL23AP82|RPL23AP82|transcript|NR_026981.1|Noncoding|1/3|n.242-5216G>A||||||,T|intron_variant|MODIFIER|RPL23AP82|RPL23AP82|transcript|NR_026981.1|Noncoding|1/3|n.242-5216G>T||||||,A|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130923.1|Coding|4/9|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130923.1|Coding|4/9|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001003789.1|Coding|3/8|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001003789.1|Coding|3/8|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130919.1|Coding|3/8|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130919.1|Coding|3/8|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130920.1|Coding|4/9|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130920.1|Coding|4/9|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130921.1|Coding|4/9|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130921.1|Coding|4/9|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130922.1|Coding|3/8|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_001130922.1|Coding|3/8|c.137+48C>A||||||,A|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_007081.2|Coding|3/8|c.137+48C>T||||||,T|intron_variant|MODIFIER|RABL2B|RABL2B|transcript|NM_007081.2|Coding|3/8|c.137+48C>A||||||